Incidental Mutation 'R6058:Prg4'
| ID |
483029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prg4
|
| Ensembl Gene |
ENSMUSG00000006014 |
| Gene Name |
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) |
| Synonyms |
MSF, SZP, lubricin, DOL54 |
| MMRRC Submission |
044224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6058 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
150325163-150341916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 150327197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 873
(G873D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006171]
[ENSMUST00000111901]
[ENSMUST00000111902]
[ENSMUST00000119161]
[ENSMUST00000124484]
[ENSMUST00000124973]
[ENSMUST00000164600]
[ENSMUST00000161611]
[ENSMUST00000162367]
[ENSMUST00000161320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006171
AA Change: G284D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006171
Gene: ENSMUSG00000006014
AA Change: G284D
| 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: G826D
|
| SMART Domains |
Protein: ENSMUSP00000107532
Gene: ENSMUSG00000006014
AA Change: G826D
| 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 |
probably damaging
Transcript: ENSMUST00000111902
AA Change: G873D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: G873D
| 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 |
unknown
Transcript: ENSMUST00000164600
AA Change: G1082D
|
| SMART Domains |
Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: G1082D
| 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: G1082D
|
| SMART Domains |
Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: G1082D
| 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 damaging
Transcript: ENSMUST00000162367
AA Change: G284D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125551
Gene: ENSMUSG00000006014
AA Change: G284D
| 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 |
noncoding transcript
Transcript: ENSMUST00000130779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152967
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Adamts20 |
G |
A |
15: 94,227,928 (GRCm39) |
R1040* |
probably null |
Het |
| Akt1 |
A |
G |
12: 112,628,634 (GRCm39) |
L52P |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,176,742 (GRCm39) |
T1521S |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,403,488 (GRCm39) |
N191S |
probably damaging |
Het |
| Ascl1 |
T |
G |
10: 87,328,562 (GRCm39) |
N130T |
probably damaging |
Het |
| Bahcc1 |
T |
G |
11: 120,178,211 (GRCm39) |
S2257A |
probably damaging |
Het |
| Cd86 |
T |
C |
16: 36,449,377 (GRCm39) |
M7V |
possibly damaging |
Het |
| Cep57 |
A |
T |
9: 13,722,057 (GRCm39) |
S304R |
possibly damaging |
Het |
| Cep57l1 |
A |
T |
10: 41,616,918 (GRCm39) |
I123N |
possibly damaging |
Het |
| Cers6 |
A |
G |
2: 68,692,008 (GRCm39) |
N10S |
probably benign |
Het |
| Chrng |
A |
G |
1: 87,139,074 (GRCm39) |
D475G |
probably damaging |
Het |
| Crabp1 |
T |
A |
9: 54,680,129 (GRCm39) |
V128E |
probably damaging |
Het |
| Csnk2a1-ps3 |
T |
C |
1: 156,352,425 (GRCm39) |
Y209H |
probably damaging |
Het |
| Dcdc2a |
T |
C |
13: 25,240,354 (GRCm39) |
V34A |
possibly damaging |
Het |
| Eeig1 |
G |
A |
2: 32,450,102 (GRCm39) |
V117I |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,308,532 (GRCm39) |
C177R |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,857,844 (GRCm39) |
D2046G |
probably benign |
Het |
| Glul |
T |
C |
1: 153,783,087 (GRCm39) |
I220T |
probably benign |
Het |
| Gpc6 |
C |
T |
14: 118,202,182 (GRCm39) |
T464M |
probably damaging |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| H2-K2 |
G |
T |
17: 34,218,304 (GRCm39) |
T204K |
probably benign |
Het |
| H2-K2 |
T |
C |
17: 34,218,305 (GRCm39) |
T204A |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,963,135 (GRCm39) |
H792R |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,110,821 (GRCm39) |
I244K |
possibly damaging |
Het |
| Hsd11b2 |
G |
T |
8: 106,249,966 (GRCm39) |
R359L |
possibly damaging |
Het |
| Igsf9 |
G |
A |
1: 172,312,456 (GRCm39) |
E56K |
probably damaging |
Het |
| Il9 |
T |
C |
13: 56,628,495 (GRCm39) |
T65A |
possibly damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,592,478 (GRCm39) |
T102A |
probably damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,551,555 (GRCm39) |
S74P |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,012,575 (GRCm39) |
D700N |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,633,905 (GRCm39) |
T322A |
possibly damaging |
Het |
| Lix1 |
A |
T |
17: 17,664,012 (GRCm39) |
I117F |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,454,573 (GRCm39) |
D1154E |
probably benign |
Het |
| Marco |
A |
T |
1: 120,404,435 (GRCm39) |
I425N |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,160,310 (GRCm39) |
E650G |
probably benign |
Het |
| Mink1 |
A |
G |
11: 70,502,546 (GRCm39) |
T1086A |
possibly damaging |
Het |
| Nxf1 |
G |
A |
19: 8,745,186 (GRCm39) |
V479M |
probably damaging |
Het |
| Or10v1 |
T |
A |
19: 11,873,388 (GRCm39) |
M1K |
probably null |
Het |
| Or11g2 |
T |
C |
14: 50,856,158 (GRCm39) |
F160L |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,150 (GRCm39) |
T163A |
probably damaging |
Het |
| Or5h23 |
T |
C |
16: 58,906,273 (GRCm39) |
D191G |
probably damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,792 (GRCm39) |
V18A |
probably benign |
Het |
| Or6c5 |
T |
C |
10: 129,074,329 (GRCm39) |
S104P |
probably damaging |
Het |
| Otx2 |
T |
C |
14: 48,896,215 (GRCm39) |
D281G |
probably damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,808,141 (GRCm39) |
D198V |
probably damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,104,500 (GRCm39) |
V273A |
probably benign |
Het |
| Ppp6r2 |
T |
C |
15: 89,137,455 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
T |
A |
12: 88,143,995 (GRCm39) |
I273F |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,471,135 (GRCm39) |
N1422S |
probably benign |
Het |
| Rbm27 |
A |
T |
18: 42,460,570 (GRCm39) |
K839M |
probably damaging |
Het |
| Rere |
A |
T |
4: 150,553,255 (GRCm39) |
N149I |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,156,280 (GRCm39) |
L340S |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,082,889 (GRCm39) |
D583V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,354,308 (GRCm39) |
D76V |
possibly damaging |
Het |
| Slc5a3 |
C |
A |
16: 91,875,963 (GRCm39) |
S673R |
probably benign |
Het |
| Spink1 |
A |
T |
18: 43,861,247 (GRCm39) |
I74N |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,435,352 (GRCm39) |
S497T |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,260,278 (GRCm39) |
R741Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,747,022 (GRCm39) |
C4676R |
probably benign |
Het |
| Ubqlnl |
G |
A |
7: 103,797,959 (GRCm39) |
P513S |
probably benign |
Het |
| Unc13d |
C |
T |
11: 115,964,394 (GRCm39) |
|
probably null |
Het |
| Vmn1r125 |
TGG |
TG |
7: 21,006,144 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
A |
T |
3: 64,632,436 (GRCm39) |
C9S |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,213,264 (GRCm39) |
M829L |
probably damaging |
Het |
| Zcrb1 |
A |
G |
15: 93,285,463 (GRCm39) |
F173L |
probably benign |
Het |
| Zfp41 |
T |
C |
15: 75,490,372 (GRCm39) |
V108A |
probably damaging |
Het |
| Zfp438 |
T |
C |
18: 5,213,209 (GRCm39) |
E583G |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,923,917 (GRCm39) |
L713P |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,042 (GRCm39) |
C145* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,786,042 (GRCm39) |
C390R |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,010 (GRCm39) |
P450S |
probably damaging |
Het |
|
| Other mutations in Prg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Prg4
|
APN |
1 |
150,327,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02033:Prg4
|
APN |
1 |
150,331,619 (GRCm39) |
intron |
probably benign |
|
|
IGL02154:Prg4
|
APN |
1 |
150,330,613 (GRCm39) |
intron |
probably benign |
|
|
IGL03111:Prg4
|
APN |
1 |
150,327,653 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03177:Prg4
|
APN |
1 |
150,331,354 (GRCm39) |
intron |
probably benign |
|
|
IGL03260:Prg4
|
APN |
1 |
150,331,378 (GRCm39) |
intron |
probably benign |
|
|
IGL03281:Prg4
|
APN |
1 |
150,325,839 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Prg4
|
UTSW |
1 |
150,331,837 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0046:Prg4
|
UTSW |
1 |
150,331,837 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0196:Prg4
|
UTSW |
1 |
150,330,243 (GRCm39) |
intron |
probably benign |
|
|
R0233:Prg4
|
UTSW |
1 |
150,329,298 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Prg4
|
UTSW |
1 |
150,331,558 (GRCm39) |
intron |
probably benign |
|
|
R0616:Prg4
|
UTSW |
1 |
150,336,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Prg4
|
UTSW |
1 |
150,330,442 (GRCm39) |
intron |
probably benign |
|
|
R1826:Prg4
|
UTSW |
1 |
150,327,760 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1862:Prg4
|
UTSW |
1 |
150,336,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Prg4
|
UTSW |
1 |
150,336,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1922:Prg4
|
UTSW |
1 |
150,325,750 (GRCm39) |
nonsense |
probably null |
|
|
R1940:Prg4
|
UTSW |
1 |
150,331,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3765:Prg4
|
UTSW |
1 |
150,327,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3855:Prg4
|
UTSW |
1 |
150,327,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
|
R3895:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
|
R3912:Prg4
|
UTSW |
1 |
150,327,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3935:Prg4
|
UTSW |
1 |
150,333,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4050:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
|
R4475:Prg4
|
UTSW |
1 |
150,330,610 (GRCm39) |
intron |
probably benign |
|
|
R4794:Prg4
|
UTSW |
1 |
150,330,297 (GRCm39) |
intron |
probably benign |
|
|
R4910:Prg4
|
UTSW |
1 |
150,331,574 (GRCm39) |
intron |
probably benign |
|
|
R4911:Prg4
|
UTSW |
1 |
150,331,574 (GRCm39) |
intron |
probably benign |
|
|
R4993:Prg4
|
UTSW |
1 |
150,336,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Prg4
|
UTSW |
1 |
150,330,977 (GRCm39) |
intron |
probably benign |
|
|
R5381:Prg4
|
UTSW |
1 |
150,330,204 (GRCm39) |
intron |
probably benign |
|
|
R5452:Prg4
|
UTSW |
1 |
150,331,519 (GRCm39) |
intron |
probably benign |
|
|
R5870:Prg4
|
UTSW |
1 |
150,331,300 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Prg4
|
UTSW |
1 |
150,328,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Prg4
|
UTSW |
1 |
150,329,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6059:Prg4
|
UTSW |
1 |
150,325,748 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6232:Prg4
|
UTSW |
1 |
150,331,567 (GRCm39) |
intron |
probably benign |
|
|
R6272:Prg4
|
UTSW |
1 |
150,330,517 (GRCm39) |
intron |
probably benign |
|
|
R6459:Prg4
|
UTSW |
1 |
150,330,052 (GRCm39) |
intron |
probably benign |
|
|
R6659:Prg4
|
UTSW |
1 |
150,336,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Prg4
|
UTSW |
1 |
150,330,852 (GRCm39) |
intron |
probably benign |
|
|
R6882:Prg4
|
UTSW |
1 |
150,329,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Prg4
|
UTSW |
1 |
150,331,657 (GRCm39) |
intron |
probably benign |
|
|
R7078:Prg4
|
UTSW |
1 |
150,334,014 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7102:Prg4
|
UTSW |
1 |
150,328,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Prg4
|
UTSW |
1 |
150,329,818 (GRCm39) |
missense |
not run |
|
|
R7487:Prg4
|
UTSW |
1 |
150,331,656 (GRCm39) |
missense |
unknown |
|
|
R7531:Prg4
|
UTSW |
1 |
150,330,786 (GRCm39) |
missense |
unknown |
|
|
R7651:Prg4
|
UTSW |
1 |
150,330,696 (GRCm39) |
missense |
unknown |
|
|
R7701:Prg4
|
UTSW |
1 |
150,333,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8072:Prg4
|
UTSW |
1 |
150,331,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8168:Prg4
|
UTSW |
1 |
150,331,601 (GRCm39) |
missense |
unknown |
|
|
R8248:Prg4
|
UTSW |
1 |
150,330,877 (GRCm39) |
missense |
unknown |
|
|
R8436:Prg4
|
UTSW |
1 |
150,331,318 (GRCm39) |
missense |
unknown |
|
|
R8460:Prg4
|
UTSW |
1 |
150,331,692 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8514:Prg4
|
UTSW |
1 |
150,330,396 (GRCm39) |
missense |
unknown |
|
|
R8904:Prg4
|
UTSW |
1 |
150,331,810 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9072:Prg4
|
UTSW |
1 |
150,331,288 (GRCm39) |
missense |
unknown |
|
|
R9073:Prg4
|
UTSW |
1 |
150,331,288 (GRCm39) |
missense |
unknown |
|
|
R9274:Prg4
|
UTSW |
1 |
150,331,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9337:Prg4
|
UTSW |
1 |
150,327,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Prg4
|
UTSW |
1 |
150,327,024 (GRCm39) |
missense |
probably benign |
|
|
R9613:Prg4
|
UTSW |
1 |
150,331,660 (GRCm39) |
missense |
unknown |
|
|
R9670:Prg4
|
UTSW |
1 |
150,326,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Prg4
|
UTSW |
1 |
150,330,243 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGAGTAATGGATCCTGAAGG -3'
(R):5'- TCAAACAACTGGACTTTCAGATCAC -3'
Sequencing Primer
(F):5'- ATCCTGAAGGTGTGTGTCTGGAAAG -3'
(R):5'- GGCAACTGTAACCCATTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation