Incidental Mutation 'R0196:Prg4'
| ID |
23409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prg4
|
| Ensembl Gene |
ENSMUSG00000006014 |
| Gene Name |
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) |
| Synonyms |
DOL54, SZP, lubricin, MSF |
| MMRRC Submission |
038455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R0196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
150449412-150466165 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 150454492 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006171]
[ENSMUST00000111901]
[ENSMUST00000111902]
[ENSMUST00000119161]
[ENSMUST00000124484]
[ENSMUST00000124973]
[ENSMUST00000159035]
[ENSMUST00000164600]
[ENSMUST00000161611]
[ENSMUST00000162367]
[ENSMUST00000161320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006171
|
| SMART Domains |
Protein: ENSMUSP00000006171
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
4.21e-12 |
SMART |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
HX
|
169 |
211 |
1.67e-7 |
SMART |
|
HX
|
213 |
256 |
3.76e-10 |
SMART |
|
Blast:HX
|
369 |
422 |
2e-27 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111901
AA Change: N554S
|
| SMART Domains |
Protein: ENSMUSP00000107532
Gene: ENSMUSG00000006014
AA Change: N554S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
4.21e-12 |
SMART |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
623 |
N/A |
INTRINSIC |
|
HX
|
711 |
753 |
1.67e-7 |
SMART |
|
HX
|
755 |
798 |
3.76e-10 |
SMART |
|
Blast:HX
|
911 |
964 |
5e-27 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111902
AA Change: N601S
|
| SMART Domains |
Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: N601S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
25 |
67 |
2.71e-15 |
SMART |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
582 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
588 |
614 |
2.72e-5 |
PROSPERO |
|
low complexity region
|
617 |
670 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
680 |
706 |
2.72e-5 |
PROSPERO |
|
HX
|
758 |
800 |
1.67e-7 |
SMART |
|
HX
|
802 |
845 |
3.76e-10 |
SMART |
|
Blast:HX
|
958 |
1011 |
4e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119161
|
| SMART Domains |
Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
49 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
coiled coil region
|
539 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1019 |
N/A |
INTRINSIC |
|
Pfam:TPR_MLP1_2
|
1036 |
1167 |
9.1e-33 |
PFAM |
|
coiled coil region
|
1215 |
1421 |
N/A |
INTRINSIC |
|
coiled coil region
|
1473 |
1629 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1630 |
1691 |
1.48e-5 |
PROSPERO |
|
low complexity region
|
1695 |
1717 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1777 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1814 |
1827 |
5.58e-5 |
PROSPERO |
|
internal_repeat_3
|
1819 |
1881 |
1.48e-5 |
PROSPERO |
|
internal_repeat_4
|
1875 |
1895 |
5.58e-5 |
PROSPERO |
|
internal_repeat_1
|
1893 |
1919 |
2.03e-6 |
PROSPERO |
|
low complexity region
|
1920 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1981 |
N/A |
INTRINSIC |
|
low complexity region
|
1989 |
2014 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
2017 |
2036 |
5.58e-5 |
PROSPERO |
|
low complexity region
|
2059 |
2078 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2084 |
2135 |
3.95e-6 |
PROSPERO |
|
internal_repeat_5
|
2127 |
2140 |
5.58e-5 |
PROSPERO |
|
internal_repeat_1
|
2154 |
2179 |
2.03e-6 |
PROSPERO |
|
internal_repeat_2
|
2156 |
2212 |
3.95e-6 |
PROSPERO |
|
low complexity region
|
2239 |
2251 |
N/A |
INTRINSIC |
|
low complexity region
|
2263 |
2277 |
N/A |
INTRINSIC |
|
low complexity region
|
2292 |
2314 |
N/A |
INTRINSIC |
|
low complexity region
|
2346 |
2357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124484
|
| SMART Domains |
Protein: ENSMUSP00000121991
Gene: ENSMUSG00000006005
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124973
|
| SMART Domains |
Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
123 |
444 |
N/A |
INTRINSIC |
|
coiled coil region
|
497 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
608 |
N/A |
INTRINSIC |
|
coiled coil region
|
613 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
1077 |
1093 |
N/A |
INTRINSIC |
|
Pfam:TPR_MLP1_2
|
1112 |
1240 |
5.1e-37 |
PFAM |
|
coiled coil region
|
1289 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1682 |
1698 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1703 |
1750 |
8.04e-5 |
PROSPERO |
|
internal_repeat_3
|
1704 |
1765 |
1.07e-5 |
PROSPERO |
|
low complexity region
|
1769 |
1791 |
N/A |
INTRINSIC |
|
low complexity region
|
1835 |
1851 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1857 |
1900 |
8.04e-5 |
PROSPERO |
|
internal_repeat_6
|
1887 |
1911 |
8.04e-5 |
PROSPERO |
|
internal_repeat_3
|
1893 |
1955 |
1.07e-5 |
PROSPERO |
|
internal_repeat_4
|
1949 |
1969 |
4.1e-5 |
PROSPERO |
|
internal_repeat_1
|
1967 |
1993 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
1994 |
2007 |
N/A |
INTRINSIC |
|
low complexity region
|
2016 |
2055 |
N/A |
INTRINSIC |
|
low complexity region
|
2063 |
2088 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
2091 |
2110 |
4.1e-5 |
PROSPERO |
|
internal_repeat_6
|
2108 |
2132 |
8.04e-5 |
PROSPERO |
|
low complexity region
|
2133 |
2152 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2158 |
2209 |
2.78e-6 |
PROSPERO |
|
internal_repeat_1
|
2228 |
2253 |
1.42e-6 |
PROSPERO |
|
internal_repeat_2
|
2230 |
2286 |
2.78e-6 |
PROSPERO |
|
low complexity region
|
2313 |
2325 |
N/A |
INTRINSIC |
|
low complexity region
|
2337 |
2351 |
N/A |
INTRINSIC |
|
low complexity region
|
2366 |
2388 |
N/A |
INTRINSIC |
|
low complexity region
|
2420 |
2431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152967
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159035
|
| SMART Domains |
Protein: ENSMUSP00000124410
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
25 |
67 |
2.71e-15 |
SMART |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
99 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164600
AA Change: N810S
|
| SMART Domains |
Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: N810S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
2.77e-12 |
SMART |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
244 |
271 |
7.42e-5 |
PROSPERO |
|
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
|
Pfam:Cornifin
|
404 |
497 |
2.4e-14 |
PFAM |
|
Pfam:Cornifin
|
468 |
584 |
3.2e-15 |
PFAM |
|
Pfam:Cornifin
|
550 |
648 |
3.3e-16 |
PFAM |
|
Pfam:Cornifin
|
625 |
722 |
2.1e-15 |
PFAM |
|
Pfam:Cornifin
|
647 |
743 |
7.8e-16 |
PFAM |
|
Pfam:Cornifin
|
706 |
822 |
1.4e-12 |
PFAM |
|
low complexity region
|
826 |
879 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
889 |
915 |
1.24e-5 |
PROSPERO |
|
HX
|
967 |
1009 |
1.67e-7 |
SMART |
|
HX
|
1011 |
1054 |
3.76e-10 |
SMART |
|
Blast:HX
|
1167 |
1220 |
6e-27 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161611
AA Change: N810S
|
| SMART Domains |
Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: N810S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
2.77e-12 |
SMART |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
244 |
271 |
7.42e-5 |
PROSPERO |
|
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
|
Pfam:Cornifin
|
578 |
691 |
2.2e-9 |
PFAM |
|
internal_repeat_3
|
796 |
825 |
7.42e-5 |
PROSPERO |
|
internal_repeat_2
|
797 |
823 |
1.24e-5 |
PROSPERO |
|
low complexity region
|
826 |
879 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
889 |
915 |
1.24e-5 |
PROSPERO |
|
HX
|
967 |
1009 |
1.67e-7 |
SMART |
|
HX
|
1011 |
1054 |
3.76e-10 |
SMART |
|
Blast:HX
|
1167 |
1220 |
6e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162367
|
| SMART Domains |
Protein: ENSMUSP00000125551
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
4.21e-12 |
SMART |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
HX
|
169 |
211 |
1.67e-7 |
SMART |
|
HX
|
213 |
256 |
3.76e-10 |
SMART |
|
Blast:HX
|
369 |
422 |
2e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161320
|
| SMART Domains |
Protein: ENSMUSP00000124801
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
25 |
67 |
3.83e-15 |
SMART |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 81.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Aging homozygous null mice develop a hopping gait, irregular endochondral growth plates, altered cartilage surface, camptodactyly, progressive synovial hyperplasia and, ultimately, joint failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,616,247 (GRCm38) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,109,520 (GRCm38) |
P317L |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,259,813 (GRCm38) |
N2313I |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,508 (GRCm38) |
I46T |
probably benign |
Het |
| Adipoq |
T |
G |
16: 23,146,643 (GRCm38) |
|
probably null |
Het |
| Amy1 |
A |
T |
3: 113,569,421 (GRCm38) |
D92E |
probably benign |
Het |
| Asb15 |
G |
A |
6: 24,564,393 (GRCm38) |
R282Q |
probably damaging |
Het |
| Bag6 |
G |
C |
17: 35,144,263 (GRCm38) |
G693A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,580,287 (GRCm38) |
I870T |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,789,502 (GRCm38) |
K356R |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 122,633,337 (GRCm38) |
Q525R |
possibly damaging |
Het |
| Ccdc94 |
C |
A |
17: 55,964,653 (GRCm38) |
D191E |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,867,806 (GRCm38) |
R339G |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,190,434 (GRCm38) |
S350P |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,338,213 (GRCm38) |
S469T |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,285,422 (GRCm38) |
S279T |
probably benign |
Het |
| Clnk |
T |
A |
5: 38,769,939 (GRCm38) |
N66Y |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,224,266 (GRCm38) |
T64S |
probably benign |
Het |
| Crtc1 |
T |
C |
8: 70,386,221 (GRCm38) |
D599G |
probably damaging |
Het |
| Cyp2c23 |
A |
C |
19: 44,012,356 (GRCm38) |
I363S |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,834,075 (GRCm38) |
I4519F |
possibly damaging |
Het |
| Dner |
T |
A |
1: 84,370,832 (GRCm38) |
I716F |
probably damaging |
Het |
| Dsel |
T |
G |
1: 111,861,603 (GRCm38) |
T401P |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,911,746 (GRCm38) |
D1175G |
probably benign |
Het |
| Ephb3 |
A |
T |
16: 21,218,054 (GRCm38) |
N343I |
probably damaging |
Het |
| Fbxw10 |
T |
A |
11: 62,877,244 (GRCm38) |
F974I |
probably benign |
Het |
| Gfi1b |
T |
C |
2: 28,613,774 (GRCm38) |
Y138C |
probably damaging |
Het |
| Gm11168 |
T |
A |
9: 3,005,175 (GRCm38) |
L6H |
probably benign |
Het |
| Grb10 |
A |
C |
11: 11,945,583 (GRCm38) |
V247G |
probably damaging |
Het |
| Gstp2 |
A |
T |
19: 4,040,514 (GRCm38) |
|
probably null |
Het |
| Hars2 |
C |
T |
18: 36,789,204 (GRCm38) |
Q291* |
probably null |
Het |
| Hyal4 |
G |
T |
6: 24,756,221 (GRCm38) |
W146L |
probably damaging |
Het |
| Il22ra1 |
C |
T |
4: 135,734,245 (GRCm38) |
T107I |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,204,729 (GRCm38) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,865,702 (GRCm38) |
S119P |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,463,627 (GRCm38) |
R24L |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,606,770 (GRCm38) |
V137A |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,176,625 (GRCm38) |
E226V |
probably damaging |
Het |
| Mcemp1 |
A |
T |
8: 3,668,201 (GRCm38) |
Q165L |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,027,996 (GRCm38) |
K82M |
probably benign |
Het |
| Mpzl3 |
A |
G |
9: 45,062,160 (GRCm38) |
T66A |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 87,980,360 (GRCm38) |
V143I |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,838,725 (GRCm38) |
|
probably null |
Het |
| Ncr1 |
G |
T |
7: 4,340,973 (GRCm38) |
C153F |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,468,769 (GRCm38) |
M1411K |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,578,272 (GRCm38) |
V786D |
probably damaging |
Het |
| Nisch |
T |
C |
14: 31,203,394 (GRCm38) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,806,351 (GRCm38) |
Y1093N |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,756,145 (GRCm38) |
R39C |
probably damaging |
Het |
| Olfr1352 |
C |
T |
10: 78,984,189 (GRCm38) |
T133I |
possibly damaging |
Het |
| Olfr392 |
A |
T |
11: 73,814,905 (GRCm38) |
M59K |
probably damaging |
Het |
| Oxa1l |
T |
C |
14: 54,363,487 (GRCm38) |
I139T |
probably damaging |
Het |
| P3h3 |
T |
A |
6: 124,845,272 (GRCm38) |
N583Y |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,756,698 (GRCm38) |
|
probably null |
Het |
| Pcnp |
C |
T |
16: 56,024,533 (GRCm38) |
|
probably benign |
Het |
| Pdzd8 |
G |
T |
19: 59,301,131 (GRCm38) |
D612E |
probably benign |
Het |
| Pi4kb |
T |
C |
3: 94,998,950 (GRCm38) |
S8P |
probably damaging |
Het |
| Pikfyve |
T |
G |
1: 65,256,072 (GRCm38) |
V1454G |
possibly damaging |
Het |
| Podn |
T |
C |
4: 108,021,498 (GRCm38) |
N246D |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,484,521 (GRCm38) |
Y523H |
probably damaging |
Het |
| Rpf1 |
T |
A |
3: 146,508,149 (GRCm38) |
E231V |
possibly damaging |
Het |
| Slc16a10 |
C |
T |
10: 40,056,615 (GRCm38) |
E317K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,412,265 (GRCm38) |
I435F |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,433,387 (GRCm38) |
D629G |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 57,146,100 (GRCm38) |
I472T |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,588,680 (GRCm38) |
Y202C |
probably damaging |
Het |
| Ttc14 |
T |
A |
3: 33,809,254 (GRCm38) |
|
probably benign |
Het |
| Ugt1a1 |
C |
T |
1: 88,212,555 (GRCm38) |
A185V |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 49,028,278 (GRCm38) |
D655G |
probably damaging |
Het |
| Vmn1r215 |
C |
T |
13: 23,076,084 (GRCm38) |
T98I |
probably damaging |
Het |
| Vmn2r121 |
G |
T |
X: 124,132,182 (GRCm38) |
T426N |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,394,573 (GRCm38) |
N852D |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 147,047,660 (GRCm38) |
D654E |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,896,145 (GRCm38) |
A849P |
possibly damaging |
Het |
| Zfp954 |
C |
T |
7: 7,115,391 (GRCm38) |
V385M |
probably damaging |
Het |
| Zmynd15 |
A |
G |
11: 70,464,226 (GRCm38) |
T350A |
probably damaging |
Het |
|
| Other mutations in Prg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Prg4
|
APN |
1 |
150,451,920 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02033:Prg4
|
APN |
1 |
150,455,868 (GRCm38) |
intron |
probably benign |
|
|
IGL02154:Prg4
|
APN |
1 |
150,454,862 (GRCm38) |
intron |
probably benign |
|
|
IGL03111:Prg4
|
APN |
1 |
150,451,902 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03177:Prg4
|
APN |
1 |
150,455,603 (GRCm38) |
intron |
probably benign |
|
|
IGL03260:Prg4
|
APN |
1 |
150,455,627 (GRCm38) |
intron |
probably benign |
|
|
IGL03281:Prg4
|
APN |
1 |
150,450,088 (GRCm38) |
splice site |
probably benign |
|
|
R0046:Prg4
|
UTSW |
1 |
150,456,086 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0046:Prg4
|
UTSW |
1 |
150,456,086 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0233:Prg4
|
UTSW |
1 |
150,453,547 (GRCm38) |
splice site |
probably benign |
|
|
R0255:Prg4
|
UTSW |
1 |
150,455,807 (GRCm38) |
intron |
probably benign |
|
|
R0616:Prg4
|
UTSW |
1 |
150,460,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1016:Prg4
|
UTSW |
1 |
150,454,691 (GRCm38) |
intron |
probably benign |
|
|
R1826:Prg4
|
UTSW |
1 |
150,452,009 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1862:Prg4
|
UTSW |
1 |
150,460,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1863:Prg4
|
UTSW |
1 |
150,460,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1922:Prg4
|
UTSW |
1 |
150,449,999 (GRCm38) |
nonsense |
probably null |
|
|
R1940:Prg4
|
UTSW |
1 |
150,456,023 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R3765:Prg4
|
UTSW |
1 |
150,451,371 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3855:Prg4
|
UTSW |
1 |
150,452,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3894:Prg4
|
UTSW |
1 |
150,454,759 (GRCm38) |
intron |
probably benign |
|
|
R3895:Prg4
|
UTSW |
1 |
150,454,759 (GRCm38) |
intron |
probably benign |
|
|
R3912:Prg4
|
UTSW |
1 |
150,451,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3935:Prg4
|
UTSW |
1 |
150,458,157 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4050:Prg4
|
UTSW |
1 |
150,454,759 (GRCm38) |
intron |
probably benign |
|
|
R4475:Prg4
|
UTSW |
1 |
150,454,859 (GRCm38) |
intron |
probably benign |
|
|
R4794:Prg4
|
UTSW |
1 |
150,454,546 (GRCm38) |
intron |
probably benign |
|
|
R4910:Prg4
|
UTSW |
1 |
150,455,823 (GRCm38) |
intron |
probably benign |
|
|
R4911:Prg4
|
UTSW |
1 |
150,455,823 (GRCm38) |
intron |
probably benign |
|
|
R4993:Prg4
|
UTSW |
1 |
150,460,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5378:Prg4
|
UTSW |
1 |
150,455,226 (GRCm38) |
intron |
probably benign |
|
|
R5381:Prg4
|
UTSW |
1 |
150,454,453 (GRCm38) |
intron |
probably benign |
|
|
R5452:Prg4
|
UTSW |
1 |
150,455,768 (GRCm38) |
intron |
probably benign |
|
|
R5870:Prg4
|
UTSW |
1 |
150,455,549 (GRCm38) |
nonsense |
probably null |
|
|
R5888:Prg4
|
UTSW |
1 |
150,452,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5929:Prg4
|
UTSW |
1 |
150,454,129 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6058:Prg4
|
UTSW |
1 |
150,451,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6059:Prg4
|
UTSW |
1 |
150,449,997 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6232:Prg4
|
UTSW |
1 |
150,455,816 (GRCm38) |
intron |
probably benign |
|
|
R6272:Prg4
|
UTSW |
1 |
150,454,766 (GRCm38) |
intron |
probably benign |
|
|
R6459:Prg4
|
UTSW |
1 |
150,454,301 (GRCm38) |
intron |
probably benign |
|
|
R6659:Prg4
|
UTSW |
1 |
150,460,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6663:Prg4
|
UTSW |
1 |
150,455,101 (GRCm38) |
intron |
probably benign |
|
|
R6882:Prg4
|
UTSW |
1 |
150,453,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6970:Prg4
|
UTSW |
1 |
150,455,906 (GRCm38) |
intron |
probably benign |
|
|
R7078:Prg4
|
UTSW |
1 |
150,458,263 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7102:Prg4
|
UTSW |
1 |
150,452,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7264:Prg4
|
UTSW |
1 |
150,454,067 (GRCm38) |
missense |
not run |
|
|
R7487:Prg4
|
UTSW |
1 |
150,455,905 (GRCm38) |
missense |
unknown |
|
|
R7531:Prg4
|
UTSW |
1 |
150,455,035 (GRCm38) |
missense |
unknown |
|
|
R7651:Prg4
|
UTSW |
1 |
150,454,945 (GRCm38) |
missense |
unknown |
|
|
R7701:Prg4
|
UTSW |
1 |
150,457,542 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8072:Prg4
|
UTSW |
1 |
150,456,023 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8168:Prg4
|
UTSW |
1 |
150,455,850 (GRCm38) |
missense |
unknown |
|
|
R8248:Prg4
|
UTSW |
1 |
150,455,126 (GRCm38) |
missense |
unknown |
|
|
R8436:Prg4
|
UTSW |
1 |
150,455,567 (GRCm38) |
missense |
unknown |
|
|
R8460:Prg4
|
UTSW |
1 |
150,455,941 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8514:Prg4
|
UTSW |
1 |
150,454,645 (GRCm38) |
missense |
unknown |
|
|
R8904:Prg4
|
UTSW |
1 |
150,456,059 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9072:Prg4
|
UTSW |
1 |
150,455,537 (GRCm38) |
missense |
unknown |
|
|
R9073:Prg4
|
UTSW |
1 |
150,455,537 (GRCm38) |
missense |
unknown |
|
|
R9274:Prg4
|
UTSW |
1 |
150,456,173 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9337:Prg4
|
UTSW |
1 |
150,451,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9488:Prg4
|
UTSW |
1 |
150,451,273 (GRCm38) |
missense |
probably benign |
|
|
R9613:Prg4
|
UTSW |
1 |
150,455,909 (GRCm38) |
missense |
unknown |
|
|
R9670:Prg4
|
UTSW |
1 |
150,450,867 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0024:Prg4
|
UTSW |
1 |
150,454,492 (GRCm38) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGCCAAAAGATCAGTGCCTG -3'
(R):5'- CTCGCAAGGAGCCTGAACCTAC -3'
Sequencing Primer
(F):5'- CGGGAATCAGAGGTTTTTCTCC -3'
(R):5'- TACAACTCCCAAGGAGCCTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation