Incidental Mutation 'R9191:Dysf'
| ID |
705607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dysf
|
| Ensembl Gene |
ENSMUSG00000033788 |
| Gene Name |
dysferlin |
| Synonyms |
2310004N10Rik |
| MMRRC Submission |
068952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
84008590-84211060 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84068066 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 293
(R293H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081904]
[ENSMUST00000089595]
[ENSMUST00000113818]
[ENSMUST00000113821]
[ENSMUST00000113823]
[ENSMUST00000153860]
[ENSMUST00000168387]
[ENSMUST00000203695]
[ENSMUST00000203803]
[ENSMUST00000204354]
[ENSMUST00000204591]
[ENSMUST00000204987]
|
| AlphaFold |
Q9ESD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081904
AA Change: R324H
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788
AA Change: R324H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
101 |
2.11e-14 |
SMART |
|
low complexity region
|
126 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
|
C2
|
255 |
351 |
4.84e-14 |
SMART |
|
FerI
|
337 |
408 |
5.3e-39 |
SMART |
|
C2
|
414 |
528 |
2.96e-9 |
SMART |
|
FerA
|
714 |
779 |
6.3e-23 |
SMART |
|
FerB
|
806 |
880 |
2.49e-44 |
SMART |
|
DysFN
|
894 |
953 |
1.42e-22 |
SMART |
|
DysFN
|
966 |
1022 |
2.65e-22 |
SMART |
|
DysFC
|
1031 |
1069 |
1.33e-13 |
SMART |
|
DysFC
|
1088 |
1121 |
1.1e-10 |
SMART |
|
C2
|
1173 |
1281 |
2.63e-15 |
SMART |
|
C2
|
1350 |
1457 |
7.13e0 |
SMART |
|
C2
|
1599 |
1698 |
2.52e-12 |
SMART |
|
C2
|
1832 |
1961 |
1.55e-3 |
SMART |
|
Pfam:Ferlin_C
|
1991 |
2095 |
6.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089595
AA Change: R293H
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788
AA Change: R293H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
101 |
2.11e-14 |
SMART |
|
low complexity region
|
126 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
C2
|
224 |
320 |
4.84e-14 |
SMART |
|
FerI
|
306 |
377 |
5.3e-39 |
SMART |
|
C2
|
383 |
497 |
1.12e-9 |
SMART |
|
FerA
|
697 |
762 |
6.3e-23 |
SMART |
|
FerB
|
789 |
863 |
2.49e-44 |
SMART |
|
DysFN
|
877 |
936 |
1.42e-22 |
SMART |
|
DysFN
|
949 |
1005 |
2.65e-22 |
SMART |
|
DysFC
|
1014 |
1052 |
1.33e-13 |
SMART |
|
DysFC
|
1071 |
1104 |
1.1e-10 |
SMART |
|
C2
|
1156 |
1264 |
2.63e-15 |
SMART |
|
C2
|
1333 |
1440 |
7.13e0 |
SMART |
|
C2
|
1582 |
1681 |
2.52e-12 |
SMART |
|
C2
|
1815 |
1944 |
1.55e-3 |
SMART |
|
Pfam:Ferlin_C
|
1974 |
2078 |
3.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113818
AA Change: R293H
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788
AA Change: R293H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
101 |
2.11e-14 |
SMART |
|
low complexity region
|
126 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
C2
|
224 |
320 |
4.84e-14 |
SMART |
|
FerI
|
306 |
377 |
5.3e-39 |
SMART |
|
C2
|
383 |
497 |
2.96e-9 |
SMART |
|
FerA
|
683 |
748 |
6.3e-23 |
SMART |
|
FerB
|
775 |
849 |
2.49e-44 |
SMART |
|
DysFN
|
863 |
922 |
1.42e-22 |
SMART |
|
DysFN
|
935 |
991 |
2.65e-22 |
SMART |
|
DysFC
|
1000 |
1038 |
1.33e-13 |
SMART |
|
DysFC
|
1057 |
1090 |
1.1e-10 |
SMART |
|
C2
|
1142 |
1250 |
2.63e-15 |
SMART |
|
C2
|
1319 |
1426 |
7.13e0 |
SMART |
|
C2
|
1568 |
1667 |
2.52e-12 |
SMART |
|
C2
|
1801 |
1930 |
1.55e-3 |
SMART |
|
transmembrane domain
|
2034 |
2056 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113821
AA Change: R292H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: R292H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
1.62e-15 |
SMART |
|
low complexity region
|
125 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
|
C2
|
223 |
319 |
4.84e-14 |
SMART |
|
FerI
|
305 |
376 |
5.3e-39 |
SMART |
|
C2
|
382 |
496 |
1.12e-9 |
SMART |
|
FerA
|
696 |
761 |
6.3e-23 |
SMART |
|
FerB
|
788 |
862 |
2.49e-44 |
SMART |
|
DysFN
|
876 |
935 |
1.42e-22 |
SMART |
|
DysFN
|
948 |
1004 |
2.65e-22 |
SMART |
|
DysFC
|
1013 |
1051 |
1.33e-13 |
SMART |
|
DysFC
|
1070 |
1103 |
1.1e-10 |
SMART |
|
C2
|
1155 |
1263 |
2.63e-15 |
SMART |
|
C2
|
1332 |
1439 |
7.13e0 |
SMART |
|
C2
|
1581 |
1680 |
2.52e-12 |
SMART |
|
C2
|
1814 |
1943 |
1.55e-3 |
SMART |
|
transmembrane domain
|
2047 |
2069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113823
AA Change: R323H
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: R323H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
1.62e-15 |
SMART |
|
low complexity region
|
125 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
231 |
N/A |
INTRINSIC |
|
C2
|
254 |
350 |
4.84e-14 |
SMART |
|
FerI
|
336 |
407 |
5.3e-39 |
SMART |
|
C2
|
413 |
527 |
2.96e-9 |
SMART |
|
FerA
|
713 |
778 |
6.3e-23 |
SMART |
|
FerB
|
805 |
879 |
2.49e-44 |
SMART |
|
DysFN
|
893 |
952 |
1.42e-22 |
SMART |
|
DysFN
|
965 |
1021 |
2.65e-22 |
SMART |
|
DysFC
|
1030 |
1068 |
1.33e-13 |
SMART |
|
DysFC
|
1087 |
1120 |
1.1e-10 |
SMART |
|
C2
|
1172 |
1280 |
2.63e-15 |
SMART |
|
C2
|
1349 |
1456 |
7.13e0 |
SMART |
|
C2
|
1598 |
1697 |
2.52e-12 |
SMART |
|
C2
|
1831 |
1960 |
1.55e-3 |
SMART |
|
transmembrane domain
|
2064 |
2086 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153860
AA Change: R292H
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: R292H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
1.1e-17 |
SMART |
|
low complexity region
|
125 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
|
C2
|
223 |
319 |
3.2e-16 |
SMART |
|
FerI
|
305 |
376 |
2.6e-43 |
SMART |
|
C2
|
382 |
496 |
7.4e-12 |
SMART |
|
FerA
|
696 |
761 |
3.1e-27 |
SMART |
|
FerB
|
788 |
862 |
1.2e-48 |
SMART |
|
DysFN
|
876 |
935 |
5.3e-25 |
SMART |
|
DysFN
|
948 |
1004 |
9.6e-25 |
SMART |
|
DysFC
|
1013 |
1051 |
4.7e-16 |
SMART |
|
DysFC
|
1070 |
1103 |
4.1e-13 |
SMART |
|
C2
|
1155 |
1263 |
1.7e-17 |
SMART |
|
C2
|
1332 |
1439 |
4.7e-2 |
SMART |
|
C2
|
1602 |
1701 |
1.7e-14 |
SMART |
|
C2
|
1835 |
1964 |
1.1e-5 |
SMART |
|
Pfam:Ferlin_C
|
1994 |
2098 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168387
AA Change: R292H
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: R292H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
1.62e-15 |
SMART |
|
low complexity region
|
125 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
|
C2
|
223 |
319 |
4.84e-14 |
SMART |
|
FerI
|
305 |
376 |
5.3e-39 |
SMART |
|
C2
|
382 |
496 |
1.12e-9 |
SMART |
|
FerA
|
704 |
769 |
6.3e-23 |
SMART |
|
FerB
|
796 |
870 |
2.49e-44 |
SMART |
|
DysFN
|
884 |
943 |
1.42e-22 |
SMART |
|
DysFN
|
956 |
1012 |
2.65e-22 |
SMART |
|
DysFC
|
1021 |
1059 |
1.33e-13 |
SMART |
|
DysFC
|
1078 |
1111 |
1.1e-10 |
SMART |
|
C2
|
1163 |
1271 |
2.63e-15 |
SMART |
|
C2
|
1340 |
1447 |
7.13e0 |
SMART |
|
C2
|
1589 |
1688 |
2.52e-12 |
SMART |
|
C2
|
1822 |
1951 |
1.55e-3 |
SMART |
|
transmembrane domain
|
2055 |
2077 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203695
AA Change: R324H
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788
AA Change: R324H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
101 |
1.4e-16 |
SMART |
|
low complexity region
|
126 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
|
C2
|
255 |
351 |
3.2e-16 |
SMART |
|
FerI
|
337 |
408 |
2.6e-43 |
SMART |
|
C2
|
414 |
528 |
7.4e-12 |
SMART |
|
FerA
|
728 |
793 |
3.1e-27 |
SMART |
|
FerB
|
820 |
894 |
1.2e-48 |
SMART |
|
DysFN
|
908 |
967 |
5.3e-25 |
SMART |
|
DysFN
|
980 |
1036 |
9.6e-25 |
SMART |
|
DysFC
|
1045 |
1083 |
4.7e-16 |
SMART |
|
DysFC
|
1102 |
1135 |
4.1e-13 |
SMART |
|
C2
|
1187 |
1295 |
1.7e-17 |
SMART |
|
C2
|
1364 |
1471 |
4.7e-2 |
SMART |
|
C2
|
1613 |
1712 |
1.7e-14 |
SMART |
|
C2
|
1846 |
1975 |
1.1e-5 |
SMART |
|
Pfam:Ferlin_C
|
2005 |
2109 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203803
AA Change: R323H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: R323H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
1.1e-17 |
SMART |
|
low complexity region
|
125 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
231 |
N/A |
INTRINSIC |
|
C2
|
254 |
350 |
3.2e-16 |
SMART |
|
FerI
|
336 |
407 |
2.6e-43 |
SMART |
|
C2
|
413 |
527 |
7.4e-12 |
SMART |
|
FerA
|
727 |
792 |
3.1e-27 |
SMART |
|
FerB
|
819 |
893 |
1.2e-48 |
SMART |
|
DysFN
|
907 |
966 |
5.3e-25 |
SMART |
|
DysFN
|
979 |
1035 |
9.6e-25 |
SMART |
|
DysFC
|
1044 |
1082 |
4.7e-16 |
SMART |
|
DysFC
|
1101 |
1134 |
4.1e-13 |
SMART |
|
C2
|
1186 |
1294 |
1.7e-17 |
SMART |
|
C2
|
1353 |
1460 |
4.7e-2 |
SMART |
|
C2
|
1602 |
1701 |
1.7e-14 |
SMART |
|
C2
|
1835 |
1964 |
1.1e-5 |
SMART |
|
Pfam:Ferlin_C
|
1994 |
2098 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204354
AA Change: R293H
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788
AA Change: R293H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
101 |
1.4e-16 |
SMART |
|
low complexity region
|
126 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
C2
|
224 |
320 |
3.2e-16 |
SMART |
|
FerI
|
306 |
377 |
2.6e-43 |
SMART |
|
C2
|
383 |
497 |
2e-11 |
SMART |
|
FerA
|
683 |
748 |
3.1e-27 |
SMART |
|
FerB
|
775 |
849 |
1.2e-48 |
SMART |
|
DysFN
|
863 |
922 |
5.3e-25 |
SMART |
|
DysFN
|
935 |
991 |
9.6e-25 |
SMART |
|
DysFC
|
1000 |
1038 |
4.7e-16 |
SMART |
|
DysFC
|
1057 |
1090 |
4.1e-13 |
SMART |
|
C2
|
1142 |
1250 |
1.7e-17 |
SMART |
|
C2
|
1319 |
1426 |
4.7e-2 |
SMART |
|
C2
|
1589 |
1688 |
1.7e-14 |
SMART |
|
C2
|
1822 |
1951 |
1.1e-5 |
SMART |
|
Pfam:Ferlin_C
|
1981 |
2085 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204591
AA Change: R323H
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: R323H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
100 |
1.1e-17 |
SMART |
|
low complexity region
|
125 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
231 |
N/A |
INTRINSIC |
|
C2
|
254 |
350 |
3.2e-16 |
SMART |
|
FerI
|
336 |
407 |
2.6e-43 |
SMART |
|
C2
|
413 |
527 |
2e-11 |
SMART |
|
FerA
|
713 |
778 |
3.1e-27 |
SMART |
|
FerB
|
805 |
879 |
1.2e-48 |
SMART |
|
DysFN
|
893 |
952 |
5.3e-25 |
SMART |
|
DysFN
|
965 |
1021 |
9.6e-25 |
SMART |
|
DysFC
|
1030 |
1068 |
4.7e-16 |
SMART |
|
DysFC
|
1087 |
1120 |
4.1e-13 |
SMART |
|
C2
|
1172 |
1280 |
1.7e-17 |
SMART |
|
C2
|
1349 |
1456 |
4.7e-2 |
SMART |
|
C2
|
1619 |
1718 |
1.7e-14 |
SMART |
|
C2
|
1852 |
1981 |
1.1e-5 |
SMART |
|
Pfam:Ferlin_C
|
2011 |
2115 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204987
AA Change: R293H
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788
AA Change: R293H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
101 |
1.4e-16 |
SMART |
|
low complexity region
|
126 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
C2
|
224 |
320 |
3.2e-16 |
SMART |
|
FerI
|
306 |
377 |
2.6e-43 |
SMART |
|
C2
|
383 |
497 |
7.4e-12 |
SMART |
|
FerA
|
697 |
762 |
3.1e-27 |
SMART |
|
FerB
|
789 |
863 |
1.2e-48 |
SMART |
|
DysFN
|
877 |
936 |
5.3e-25 |
SMART |
|
DysFN
|
949 |
1005 |
9.6e-25 |
SMART |
|
DysFC
|
1014 |
1052 |
4.7e-16 |
SMART |
|
DysFC
|
1071 |
1104 |
4.1e-13 |
SMART |
|
C2
|
1156 |
1264 |
1.7e-17 |
SMART |
|
C2
|
1333 |
1440 |
4.7e-2 |
SMART |
|
C2
|
1603 |
1702 |
1.7e-14 |
SMART |
|
C2
|
1836 |
1965 |
1.1e-5 |
SMART |
|
Pfam:Ferlin_C
|
1995 |
2099 |
4.4e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,182,698 |
R1217W |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,245,080 |
I214F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 49,987,664 |
I529S |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,756,777 |
P352L |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,306,840 |
R277Q |
|
Het |
| Atm |
T |
C |
9: 53,527,290 |
T127A |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 98,872,087 |
E123V |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,685,287 |
Q524R |
probably benign |
Het |
| Ccdc34 |
T |
A |
2: 110,021,956 |
M141K |
possibly damaging |
Het |
| Crybb1 |
T |
A |
5: 112,269,333 |
Y196N |
probably damaging |
Het |
| Ercc8 |
T |
A |
13: 108,169,380 |
D96E |
probably benign |
Het |
| Gm11487 |
A |
T |
4: 73,401,433 |
S269T |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,692,511 |
L605M |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,172,821 |
K1547* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,794 |
V693D |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,644,810 |
K3396E |
unknown |
Het |
| Myo3a |
A |
T |
2: 22,579,829 |
R1475S |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,498,656 |
K366R |
probably damaging |
Het |
| Nphp4 |
A |
T |
4: 152,556,230 |
D1018V |
probably damaging |
Het |
| Nt5e |
T |
C |
9: 88,364,821 |
M370T |
possibly damaging |
Het |
| Pappa2 |
A |
G |
1: 158,857,418 |
V717A |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,326,149 |
I512T |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,715,879 |
Q313R |
probably benign |
Het |
| Prpf40b |
A |
T |
15: 99,304,183 |
Q54L |
probably null |
Het |
| Rasgrf1 |
G |
A |
9: 90,001,870 |
V943M |
probably damaging |
Het |
| Serbp1 |
A |
G |
6: 67,272,854 |
Y244C |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,948,461 |
S219P |
|
Het |
| Slc27a5 |
T |
G |
7: 12,991,320 |
H400P |
probably damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,599,781 |
D1066E |
possibly damaging |
Het |
| Tap1 |
T |
C |
17: 34,194,982 |
|
probably null |
Het |
| Tmem198 |
G |
A |
1: 75,479,782 |
A27T |
unknown |
Het |
| Tpx2 |
A |
G |
2: 152,885,204 |
T464A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,531,158 |
A61G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,242,621 |
T238I |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,265,235 |
V551A |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,866,486 |
T509A |
probably benign |
Het |
|
| Other mutations in Dysf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Dysf
|
APN |
6 |
84108099 |
missense |
probably damaging |
1.00 |
|
IGL00340:Dysf
|
APN |
6 |
84141951 |
missense |
probably benign |
0.02 |
|
IGL00429:Dysf
|
APN |
6 |
84189844 |
missense |
probably damaging |
1.00 |
|
IGL00465:Dysf
|
APN |
6 |
84199848 |
critical splice donor site |
probably null |
|
|
IGL00800:Dysf
|
APN |
6 |
84149998 |
missense |
probably damaging |
1.00 |
|
IGL01069:Dysf
|
APN |
6 |
84199785 |
missense |
possibly damaging |
0.94 |
|
IGL01094:Dysf
|
APN |
6 |
84194386 |
missense |
probably damaging |
1.00 |
|
IGL01420:Dysf
|
APN |
6 |
84149759 |
nonsense |
probably null |
|
|
IGL01649:Dysf
|
APN |
6 |
84199839 |
missense |
probably damaging |
1.00 |
|
IGL01923:Dysf
|
APN |
6 |
84210829 |
makesense |
probably null |
|
|
IGL01991:Dysf
|
APN |
6 |
84113618 |
missense |
probably damaging |
1.00 |
|
IGL01999:Dysf
|
APN |
6 |
84113618 |
missense |
probably damaging |
1.00 |
|
IGL02002:Dysf
|
APN |
6 |
84210787 |
splice site |
probably benign |
|
|
IGL02136:Dysf
|
APN |
6 |
84108167 |
missense |
probably benign |
0.43 |
|
IGL02318:Dysf
|
APN |
6 |
84186464 |
missense |
possibly damaging |
0.50 |
|
IGL02378:Dysf
|
APN |
6 |
84111905 |
missense |
probably damaging |
1.00 |
|
IGL02404:Dysf
|
APN |
6 |
84116061 |
missense |
probably damaging |
1.00 |
|
IGL02416:Dysf
|
APN |
6 |
84192914 |
missense |
possibly damaging |
0.92 |
|
IGL02535:Dysf
|
APN |
6 |
84149697 |
missense |
possibly damaging |
0.45 |
|
IGL02553:Dysf
|
APN |
6 |
84130127 |
missense |
possibly damaging |
0.95 |
|
IGL02559:Dysf
|
APN |
6 |
84067446 |
splice site |
probably benign |
|
|
IGL02563:Dysf
|
APN |
6 |
84186516 |
splice site |
probably benign |
|
|
IGL02647:Dysf
|
APN |
6 |
84137373 |
missense |
probably damaging |
1.00 |
|
IGL02820:Dysf
|
APN |
6 |
84100205 |
missense |
probably damaging |
0.99 |
|
IGL02858:Dysf
|
APN |
6 |
84099489 |
missense |
probably benign |
0.01 |
|
IGL02860:Dysf
|
APN |
6 |
84190898 |
critical splice donor site |
probably null |
|
|
IGL02861:Dysf
|
APN |
6 |
84039537 |
missense |
probably damaging |
0.99 |
|
IGL03008:Dysf
|
APN |
6 |
84073894 |
missense |
probably benign |
0.01 |
|
IGL03023:Dysf
|
APN |
6 |
84193007 |
missense |
probably damaging |
1.00 |
|
IGL03074:Dysf
|
APN |
6 |
84188226 |
missense |
probably benign |
0.25 |
|
IGL03342:Dysf
|
APN |
6 |
84190872 |
missense |
probably benign |
|
|
PIT4305001:Dysf
|
UTSW |
6 |
84100234 |
nonsense |
probably null |
|
|
R0067:Dysf
|
UTSW |
6 |
84063331 |
missense |
possibly damaging |
0.58 |
|
R0106:Dysf
|
UTSW |
6 |
84113336 |
missense |
probably benign |
0.07 |
|
R0106:Dysf
|
UTSW |
6 |
84113336 |
missense |
probably benign |
0.07 |
|
R0124:Dysf
|
UTSW |
6 |
84065102 |
splice site |
probably benign |
|
|
R0219:Dysf
|
UTSW |
6 |
84129461 |
splice site |
probably benign |
|
|
R0238:Dysf
|
UTSW |
6 |
84064479 |
nonsense |
probably null |
|
|
R0238:Dysf
|
UTSW |
6 |
84064479 |
nonsense |
probably null |
|
|
R0239:Dysf
|
UTSW |
6 |
84064479 |
nonsense |
probably null |
|
|
R0239:Dysf
|
UTSW |
6 |
84064479 |
nonsense |
probably null |
|
|
R0426:Dysf
|
UTSW |
6 |
84149757 |
missense |
probably damaging |
1.00 |
|
R0455:Dysf
|
UTSW |
6 |
84140667 |
missense |
probably benign |
0.29 |
|
R0482:Dysf
|
UTSW |
6 |
84152405 |
missense |
probably benign |
0.03 |
|
R0545:Dysf
|
UTSW |
6 |
84099461 |
missense |
probably damaging |
0.99 |
|
R0625:Dysf
|
UTSW |
6 |
84111987 |
splice site |
probably null |
|
|
R0676:Dysf
|
UTSW |
6 |
84113336 |
missense |
probably benign |
0.07 |
|
R0699:Dysf
|
UTSW |
6 |
84190846 |
missense |
probably benign |
0.00 |
|
R1165:Dysf
|
UTSW |
6 |
84067069 |
missense |
probably damaging |
0.98 |
|
R1455:Dysf
|
UTSW |
6 |
84113386 |
missense |
probably benign |
0.01 |
|
R1582:Dysf
|
UTSW |
6 |
84097767 |
missense |
probably damaging |
1.00 |
|
R1584:Dysf
|
UTSW |
6 |
84067047 |
missense |
probably benign |
0.04 |
|
R1605:Dysf
|
UTSW |
6 |
84106941 |
missense |
probably damaging |
0.96 |
|
R1674:Dysf
|
UTSW |
6 |
84179715 |
missense |
probably benign |
0.01 |
|
R1739:Dysf
|
UTSW |
6 |
84112235 |
critical splice donor site |
probably null |
|
|
R1765:Dysf
|
UTSW |
6 |
84190902 |
splice site |
probably null |
|
|
R1813:Dysf
|
UTSW |
6 |
84151924 |
missense |
possibly damaging |
0.83 |
|
R1900:Dysf
|
UTSW |
6 |
84039567 |
missense |
probably damaging |
0.97 |
|
R1960:Dysf
|
UTSW |
6 |
84073903 |
missense |
probably benign |
0.12 |
|
R2216:Dysf
|
UTSW |
6 |
84207245 |
splice site |
probably null |
|
|
R2242:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R2243:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R2245:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R2246:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R2280:Dysf
|
UTSW |
6 |
84064494 |
missense |
probably damaging |
0.99 |
|
R2374:Dysf
|
UTSW |
6 |
84097729 |
missense |
probably damaging |
1.00 |
|
R2403:Dysf
|
UTSW |
6 |
84039567 |
missense |
possibly damaging |
0.84 |
|
R2763:Dysf
|
UTSW |
6 |
84106932 |
missense |
probably benign |
0.00 |
|
R2895:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R2916:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R2918:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3402:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3403:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3434:Dysf
|
UTSW |
6 |
84070888 |
missense |
probably benign |
0.00 |
|
R3772:Dysf
|
UTSW |
6 |
84152351 |
missense |
possibly damaging |
0.63 |
|
R3781:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3789:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3822:Dysf
|
UTSW |
6 |
84207088 |
splice site |
probably benign |
|
|
R3918:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3919:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3939:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R3942:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R4177:Dysf
|
UTSW |
6 |
84067031 |
nonsense |
probably null |
|
|
R4179:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R4180:Dysf
|
UTSW |
6 |
84186509 |
critical splice donor site |
probably null |
|
|
R4299:Dysf
|
UTSW |
6 |
84068077 |
missense |
possibly damaging |
0.78 |
|
R4419:Dysf
|
UTSW |
6 |
84207242 |
critical splice donor site |
probably null |
|
|
R4446:Dysf
|
UTSW |
6 |
84205872 |
missense |
probably damaging |
1.00 |
|
R4577:Dysf
|
UTSW |
6 |
84137326 |
missense |
probably damaging |
1.00 |
|
R4680:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4708:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4709:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4710:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4725:Dysf
|
UTSW |
6 |
84097756 |
missense |
probably damaging |
1.00 |
|
R4742:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4743:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4749:Dysf
|
UTSW |
6 |
84067008 |
missense |
probably damaging |
1.00 |
|
R4787:Dysf
|
UTSW |
6 |
84203328 |
nonsense |
probably null |
|
|
R4850:Dysf
|
UTSW |
6 |
84097715 |
missense |
probably damaging |
0.99 |
|
R4868:Dysf
|
UTSW |
6 |
84179693 |
missense |
probably damaging |
1.00 |
|
R4871:Dysf
|
UTSW |
6 |
84067023 |
missense |
possibly damaging |
0.93 |
|
R4951:Dysf
|
UTSW |
6 |
84114120 |
critical splice donor site |
probably null |
|
|
R4952:Dysf
|
UTSW |
6 |
84149986 |
missense |
possibly damaging |
0.79 |
|
R5009:Dysf
|
UTSW |
6 |
84151986 |
missense |
probably damaging |
1.00 |
|
R5072:Dysf
|
UTSW |
6 |
84137272 |
missense |
probably damaging |
1.00 |
|
R5073:Dysf
|
UTSW |
6 |
84137272 |
missense |
probably damaging |
1.00 |
|
R5074:Dysf
|
UTSW |
6 |
84137272 |
missense |
probably damaging |
1.00 |
|
R5252:Dysf
|
UTSW |
6 |
84186468 |
missense |
probably damaging |
0.98 |
|
R5260:Dysf
|
UTSW |
6 |
84150034 |
missense |
probably damaging |
1.00 |
|
R5447:Dysf
|
UTSW |
6 |
84195263 |
missense |
probably damaging |
0.98 |
|
R5501:Dysf
|
UTSW |
6 |
84087818 |
missense |
probably damaging |
0.99 |
|
R5533:Dysf
|
UTSW |
6 |
84186471 |
missense |
probably damaging |
0.99 |
|
R5611:Dysf
|
UTSW |
6 |
84064878 |
missense |
probably damaging |
0.98 |
|
R5618:Dysf
|
UTSW |
6 |
84106824 |
missense |
probably benign |
0.03 |
|
R5884:Dysf
|
UTSW |
6 |
84186081 |
missense |
probably damaging |
1.00 |
|
R5927:Dysf
|
UTSW |
6 |
84207212 |
missense |
probably damaging |
1.00 |
|
R6045:Dysf
|
UTSW |
6 |
84114072 |
missense |
probably damaging |
0.99 |
|
R6056:Dysf
|
UTSW |
6 |
84106862 |
missense |
probably benign |
|
|
R6084:Dysf
|
UTSW |
6 |
84019604 |
missense |
probably damaging |
0.98 |
|
R6084:Dysf
|
UTSW |
6 |
84112119 |
missense |
probably damaging |
1.00 |
|
R6146:Dysf
|
UTSW |
6 |
84203199 |
missense |
probably damaging |
0.96 |
|
R6220:Dysf
|
UTSW |
6 |
84149745 |
missense |
probably damaging |
0.97 |
|
R6232:Dysf
|
UTSW |
6 |
84098253 |
missense |
probably benign |
0.26 |
|
R6247:Dysf
|
UTSW |
6 |
84066999 |
missense |
probably damaging |
1.00 |
|
R6298:Dysf
|
UTSW |
6 |
84107136 |
splice site |
probably null |
|
|
R6306:Dysf
|
UTSW |
6 |
84137266 |
missense |
possibly damaging |
0.91 |
|
R6377:Dysf
|
UTSW |
6 |
84008963 |
missense |
probably benign |
|
|
R6415:Dysf
|
UTSW |
6 |
84140042 |
missense |
probably damaging |
1.00 |
|
R6444:Dysf
|
UTSW |
6 |
84190840 |
missense |
probably benign |
0.36 |
|
R6470:Dysf
|
UTSW |
6 |
84066944 |
missense |
possibly damaging |
0.93 |
|
R6504:Dysf
|
UTSW |
6 |
84008925 |
missense |
probably benign |
0.03 |
|
R6557:Dysf
|
UTSW |
6 |
84186384 |
missense |
probably damaging |
0.99 |
|
R6665:Dysf
|
UTSW |
6 |
84130116 |
missense |
probably benign |
|
|
R6701:Dysf
|
UTSW |
6 |
84112190 |
missense |
probably damaging |
1.00 |
|
R6776:Dysf
|
UTSW |
6 |
84064894 |
missense |
possibly damaging |
0.88 |
|
R6909:Dysf
|
UTSW |
6 |
84192938 |
missense |
probably damaging |
1.00 |
|
R7007:Dysf
|
UTSW |
6 |
84113980 |
missense |
probably damaging |
1.00 |
|
R7013:Dysf
|
UTSW |
6 |
84137358 |
missense |
probably damaging |
1.00 |
|
R7035:Dysf
|
UTSW |
6 |
84186392 |
missense |
probably benign |
0.02 |
|
R7094:Dysf
|
UTSW |
6 |
84100202 |
missense |
probably benign |
0.43 |
|
R7124:Dysf
|
UTSW |
6 |
84190901 |
splice site |
probably null |
|
|
R7156:Dysf
|
UTSW |
6 |
84087876 |
critical splice donor site |
probably null |
|
|
R7261:Dysf
|
UTSW |
6 |
84193010 |
missense |
probably damaging |
0.98 |
|
R7296:Dysf
|
UTSW |
6 |
84106898 |
missense |
probably benign |
0.33 |
|
R7356:Dysf
|
UTSW |
6 |
84067461 |
missense |
probably damaging |
1.00 |
|
R7359:Dysf
|
UTSW |
6 |
84195324 |
splice site |
probably null |
|
|
R7384:Dysf
|
UTSW |
6 |
84114105 |
missense |
probably benign |
0.17 |
|
R7409:Dysf
|
UTSW |
6 |
84149682 |
missense |
probably benign |
0.00 |
|
R7449:Dysf
|
UTSW |
6 |
84137380 |
missense |
possibly damaging |
0.90 |
|
R7476:Dysf
|
UTSW |
6 |
84064896 |
missense |
probably benign |
0.08 |
|
R7496:Dysf
|
UTSW |
6 |
84067478 |
missense |
probably benign |
0.43 |
|
R7573:Dysf
|
UTSW |
6 |
84130122 |
missense |
possibly damaging |
0.59 |
|
R7616:Dysf
|
UTSW |
6 |
84101963 |
missense |
probably benign |
0.01 |
|
R7684:Dysf
|
UTSW |
6 |
84100135 |
missense |
probably benign |
0.00 |
|
R7808:Dysf
|
UTSW |
6 |
84070929 |
missense |
possibly damaging |
0.86 |
|
R7836:Dysf
|
UTSW |
6 |
84137398 |
missense |
probably damaging |
1.00 |
|
R7868:Dysf
|
UTSW |
6 |
84114099 |
missense |
probably benign |
0.00 |
|
R7873:Dysf
|
UTSW |
6 |
84083765 |
missense |
probably benign |
|
|
R7956:Dysf
|
UTSW |
6 |
84008996 |
missense |
probably benign |
0.01 |
|
R8130:Dysf
|
UTSW |
6 |
84137376 |
missense |
probably damaging |
0.97 |
|
R8357:Dysf
|
UTSW |
6 |
84188245 |
missense |
probably benign |
0.01 |
|
R8383:Dysf
|
UTSW |
6 |
84019583 |
missense |
probably damaging |
1.00 |
|
R8457:Dysf
|
UTSW |
6 |
84188245 |
missense |
probably benign |
0.01 |
|
R8693:Dysf
|
UTSW |
6 |
84111970 |
missense |
probably damaging |
1.00 |
|
R8738:Dysf
|
UTSW |
6 |
84194371 |
missense |
probably damaging |
1.00 |
|
R8808:Dysf
|
UTSW |
6 |
84019484 |
start gained |
probably benign |
|
|
R8836:Dysf
|
UTSW |
6 |
84116123 |
missense |
probably damaging |
1.00 |
|
R8915:Dysf
|
UTSW |
6 |
84179754 |
missense |
probably benign |
|
|
R8959:Dysf
|
UTSW |
6 |
84101963 |
missense |
probably benign |
0.01 |
|
R9091:Dysf
|
UTSW |
6 |
84100234 |
nonsense |
probably null |
|
|
R9095:Dysf
|
UTSW |
6 |
84179684 |
missense |
probably benign |
0.01 |
|
R9162:Dysf
|
UTSW |
6 |
84112233 |
missense |
probably damaging |
1.00 |
|
R9164:Dysf
|
UTSW |
6 |
84203326 |
missense |
probably damaging |
1.00 |
|
R9166:Dysf
|
UTSW |
6 |
84149977 |
missense |
probably damaging |
1.00 |
|
R9173:Dysf
|
UTSW |
6 |
84194397 |
missense |
probably benign |
0.10 |
|
R9270:Dysf
|
UTSW |
6 |
84100234 |
nonsense |
probably null |
|
|
R9328:Dysf
|
UTSW |
6 |
84073913 |
missense |
probably damaging |
1.00 |
|
R9470:Dysf
|
UTSW |
6 |
84113370 |
missense |
possibly damaging |
0.59 |
|
R9509:Dysf
|
UTSW |
6 |
84210797 |
missense |
probably damaging |
0.98 |
|
R9511:Dysf
|
UTSW |
6 |
84113668 |
missense |
probably damaging |
1.00 |
|
R9526:Dysf
|
UTSW |
6 |
84151903 |
missense |
probably damaging |
0.99 |
|
R9751:Dysf
|
UTSW |
6 |
84186468 |
missense |
probably damaging |
0.98 |
|
X0063:Dysf
|
UTSW |
6 |
84063354 |
missense |
probably damaging |
0.97 |
|
X0066:Dysf
|
UTSW |
6 |
84114102 |
missense |
possibly damaging |
0.77 |
|
Z1176:Dysf
|
UTSW |
6 |
84072685 |
missense |
probably damaging |
1.00 |
|
Z1177:Dysf
|
UTSW |
6 |
84064523 |
missense |
probably benign |
|
|
Z1177:Dysf
|
UTSW |
6 |
84087817 |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGATTCTGCACATGCTG -3'
(R):5'- CTACCTTTGGTGAGAGGTTTCC -3'
Sequencing Primer
(F):5'- ACATGCTGTGTGATTTCCCTG -3'
(R):5'- CCTGAGTTGGGAGATTTTACGGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation