Incidental Mutation 'IGL00971:Gpatch8'
| ID |
28633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpatch8
|
| Ensembl Gene |
ENSMUSG00000034621 |
| Gene Name |
G patch domain containing 8 |
| Synonyms |
Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
IGL00971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102370743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 932
(Y932H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143842]
|
| AlphaFold |
A2A6A1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069673
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143842
AA Change: Y932H
|
| SMART Domains |
Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: Y932H
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
38 |
84 |
6.03e-12 |
SMART |
|
coiled coil region
|
89 |
130 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
136 |
160 |
6.4e0 |
SMART |
|
coiled coil region
|
183 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
307 |
391 |
1.55e-5 |
PROSPERO |
|
low complexity region
|
474 |
490 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
583 |
658 |
1.55e-5 |
PROSPERO |
|
low complexity region
|
666 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
885 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1208 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1342 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1361 |
N/A |
INTRINSIC |
|
low complexity region
|
1379 |
1404 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1452 |
N/A |
INTRINSIC |
|
low complexity region
|
1463 |
1490 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
| Cimip2b |
A |
G |
4: 43,428,377 (GRCm39) |
L51P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
| Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
| Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
| Kin |
T |
C |
2: 10,095,159 (GRCm39) |
W121R |
possibly damaging |
Het |
| Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
| Mmel1 |
C |
T |
4: 154,972,289 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
| Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,475 (GRCm39) |
F254I |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
| Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
| Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
| Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,496 (GRCm39) |
I121N |
probably damaging |
Het |
| Slamf7 |
T |
A |
1: 171,466,810 (GRCm39) |
I132L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
| Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
| Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
| Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
| Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
probably damaging |
Het |
|
| Other mutations in Gpatch8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Gpatch8
|
APN |
11 |
102,369,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00590:Gpatch8
|
APN |
11 |
102,371,375 (GRCm39) |
missense |
unknown |
|
|
IGL00835:Gpatch8
|
APN |
11 |
102,369,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01395:Gpatch8
|
APN |
11 |
102,371,534 (GRCm39) |
missense |
unknown |
|
|
IGL02386:Gpatch8
|
APN |
11 |
102,398,983 (GRCm39) |
missense |
unknown |
|
|
IGL02476:Gpatch8
|
APN |
11 |
102,369,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02809:Gpatch8
|
APN |
11 |
102,378,416 (GRCm39) |
missense |
unknown |
|
|
IGL02985:Gpatch8
|
APN |
11 |
102,372,336 (GRCm39) |
missense |
unknown |
|
|
IGL03013:Gpatch8
|
APN |
11 |
102,399,023 (GRCm39) |
missense |
unknown |
|
|
PIT4810001:Gpatch8
|
UTSW |
11 |
102,372,668 (GRCm39) |
missense |
unknown |
|
|
R0332:Gpatch8
|
UTSW |
11 |
102,372,668 (GRCm39) |
missense |
unknown |
|
|
R0464:Gpatch8
|
UTSW |
11 |
102,371,712 (GRCm39) |
missense |
unknown |
|
|
R0710:Gpatch8
|
UTSW |
11 |
102,372,759 (GRCm39) |
missense |
unknown |
|
|
R0734:Gpatch8
|
UTSW |
11 |
102,372,226 (GRCm39) |
missense |
unknown |
|
|
R1458:Gpatch8
|
UTSW |
11 |
102,372,055 (GRCm39) |
missense |
unknown |
|
|
R1919:Gpatch8
|
UTSW |
11 |
102,398,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2007:Gpatch8
|
UTSW |
11 |
102,391,657 (GRCm39) |
missense |
unknown |
|
|
R2495:Gpatch8
|
UTSW |
11 |
102,369,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2881:Gpatch8
|
UTSW |
11 |
102,370,743 (GRCm39) |
missense |
unknown |
|
|
R2939:Gpatch8
|
UTSW |
11 |
102,399,010 (GRCm39) |
missense |
unknown |
|
|
R4672:Gpatch8
|
UTSW |
11 |
102,369,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Gpatch8
|
UTSW |
11 |
102,370,959 (GRCm39) |
missense |
unknown |
|
|
R4931:Gpatch8
|
UTSW |
11 |
102,372,050 (GRCm39) |
missense |
unknown |
|
|
R5230:Gpatch8
|
UTSW |
11 |
102,370,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Gpatch8
|
UTSW |
11 |
102,399,053 (GRCm39) |
splice site |
probably null |
|
|
R5384:Gpatch8
|
UTSW |
11 |
102,399,053 (GRCm39) |
splice site |
probably null |
|
|
R5386:Gpatch8
|
UTSW |
11 |
102,399,053 (GRCm39) |
splice site |
probably null |
|
|
R5564:Gpatch8
|
UTSW |
11 |
102,429,111 (GRCm39) |
missense |
unknown |
|
|
R5668:Gpatch8
|
UTSW |
11 |
102,391,693 (GRCm39) |
missense |
unknown |
|
|
R5954:Gpatch8
|
UTSW |
11 |
102,371,767 (GRCm39) |
missense |
unknown |
|
|
R5966:Gpatch8
|
UTSW |
11 |
102,371,058 (GRCm39) |
missense |
unknown |
|
|
R6018:Gpatch8
|
UTSW |
11 |
102,371,741 (GRCm39) |
missense |
unknown |
|
|
R6176:Gpatch8
|
UTSW |
11 |
102,378,350 (GRCm39) |
missense |
unknown |
|
|
R6388:Gpatch8
|
UTSW |
11 |
102,369,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Gpatch8
|
UTSW |
11 |
102,371,014 (GRCm39) |
small insertion |
probably benign |
|
|
R7155:Gpatch8
|
UTSW |
11 |
102,371,014 (GRCm39) |
small insertion |
probably benign |
|
|
R7163:Gpatch8
|
UTSW |
11 |
102,371,014 (GRCm39) |
small insertion |
probably benign |
|
|
R7238:Gpatch8
|
UTSW |
11 |
102,369,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Gpatch8
|
UTSW |
11 |
102,370,656 (GRCm39) |
missense |
unknown |
|
|
R7825:Gpatch8
|
UTSW |
11 |
102,372,268 (GRCm39) |
missense |
unknown |
|
|
R8205:Gpatch8
|
UTSW |
11 |
102,371,213 (GRCm39) |
missense |
unknown |
|
|
R8241:Gpatch8
|
UTSW |
11 |
102,378,347 (GRCm39) |
missense |
unknown |
|
|
R8805:Gpatch8
|
UTSW |
11 |
102,371,018 (GRCm39) |
missense |
unknown |
|
|
R8847:Gpatch8
|
UTSW |
11 |
102,372,010 (GRCm39) |
missense |
unknown |
|
|
R9156:Gpatch8
|
UTSW |
11 |
102,370,299 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1088:Gpatch8
|
UTSW |
11 |
102,371,771 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation