Incidental Mutation 'IGL02985:Gpatch8'
| ID |
406681 |
| 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: 0.596)
|
| Stock # |
IGL02985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102372336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 401
(H401N)
|
| 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: H401N
|
| SMART Domains |
Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: H401N
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,118,634 (GRCm39) |
I722F |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
| Galr1 |
A |
T |
18: 82,411,855 (GRCm39) |
M337K |
probably benign |
Het |
| Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
| Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,690,444 (GRCm39) |
M153V |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,267,209 (GRCm39) |
R30* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
| Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
| Pde7a |
T |
A |
3: 19,365,047 (GRCm39) |
H40L |
probably damaging |
Het |
| Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
| Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
| Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
possibly 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 |
|
IGL00971:Gpatch8
|
APN |
11 |
102,370,743 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation