Incidental Mutation 'IGL02349:Gpatch1'
| ID |
289418 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpatch1
|
| Ensembl Gene |
ENSMUSG00000063808 |
| Gene Name |
G patch domain containing 1 |
| Synonyms |
Gpatc1, 1300003A17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35006680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 163
(M163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
| AlphaFold |
Q9DBM1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079693
AA Change: M163L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: M163L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1604
|
31 |
116 |
2.1e-39 |
PFAM |
|
G_patch
|
150 |
191 |
4.72e-1 |
SMART |
|
low complexity region
|
200 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
897 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131143
|
| SMART Domains |
Protein: ENSMUSP00000121711
Gene: ENSMUSG00000063808
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1604
|
29 |
98 |
2.2e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131213
AA Change: M163L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: M163L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1604
|
31 |
116 |
7.9e-40 |
PFAM |
|
G_patch
|
150 |
191 |
4.72e-1 |
SMART |
|
low complexity region
|
200 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153778
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,462 (GRCm39) |
I484V |
probably benign |
Het |
| Acly |
C |
T |
11: 100,410,505 (GRCm39) |
E158K |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,837,226 (GRCm39) |
D3E |
probably benign |
Het |
| Alg8 |
A |
G |
7: 97,029,101 (GRCm39) |
N152S |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,319,212 (GRCm39) |
T323A |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,744,989 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Cacnb3 |
A |
T |
15: 98,538,842 (GRCm39) |
K159* |
probably null |
Het |
| Capns2 |
T |
A |
8: 93,628,690 (GRCm39) |
V193D |
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,889,044 (GRCm39) |
I48T |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,876 (GRCm39) |
S555P |
probably damaging |
Het |
| Col5a3 |
T |
C |
9: 20,683,657 (GRCm39) |
E1533G |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,655,936 (GRCm39) |
L451P |
probably damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,170 (GRCm39) |
E407G |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,844,336 (GRCm39) |
Y50H |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,049 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
T |
11: 49,698,530 (GRCm39) |
I42F |
probably benign |
Het |
| Glcci1 |
A |
G |
6: 8,558,581 (GRCm39) |
K35E |
probably damaging |
Het |
| Gpr132 |
T |
C |
12: 112,816,475 (GRCm39) |
Y117C |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,754,223 (GRCm39) |
P650S |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,352,189 (GRCm39) |
D464G |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,427,327 (GRCm39) |
G185C |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,687,661 (GRCm39) |
M570K |
probably damaging |
Het |
| Macir |
A |
G |
1: 97,573,777 (GRCm39) |
L96P |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,506 (GRCm39) |
D615V |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,352,901 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
C |
3: 88,818,205 (GRCm39) |
S360R |
possibly damaging |
Het |
| Myo15b |
C |
A |
11: 115,753,931 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
T |
C |
19: 56,580,151 (GRCm39) |
V428A |
possibly damaging |
Het |
| Or13a28 |
T |
C |
7: 140,218,384 (GRCm39) |
F257L |
probably benign |
Het |
| Or1j19 |
A |
C |
2: 36,677,058 (GRCm39) |
T174P |
possibly damaging |
Het |
| Or51a39 |
G |
A |
7: 102,363,333 (GRCm39) |
R96C |
probably damaging |
Het |
| Or51f2 |
A |
T |
7: 102,527,116 (GRCm39) |
Y263F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,812 (GRCm39) |
S43P |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,657,502 (GRCm39) |
M24K |
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,741,192 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
T |
12: 76,609,074 (GRCm39) |
N149I |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,676 (GRCm39) |
H541Q |
probably damaging |
Het |
| Rgp1 |
T |
C |
4: 43,581,236 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
A |
T |
10: 89,493,800 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
C |
6: 42,193,010 (GRCm39) |
H250P |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,268 (GRCm39) |
V189A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,029,555 (GRCm39) |
S1875L |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,944 (GRCm39) |
L60H |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,667,898 (GRCm39) |
D217G |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,724 (GRCm39) |
L638P |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,774,401 (GRCm39) |
N148S |
possibly damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,266,467 (GRCm39) |
Q241* |
probably null |
Het |
| Zfp990 |
A |
G |
4: 145,257,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpatch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Gpatch1
|
APN |
7 |
34,976,238 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01143:Gpatch1
|
APN |
7 |
35,000,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL01523:Gpatch1
|
APN |
7 |
35,007,763 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01862:Gpatch1
|
APN |
7 |
34,994,703 (GRCm39) |
missense |
probably benign |
|
|
IGL02792:Gpatch1
|
APN |
7 |
35,001,018 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02926:Gpatch1
|
APN |
7 |
35,007,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03099:Gpatch1
|
APN |
7 |
34,996,948 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03107:Gpatch1
|
APN |
7 |
35,002,742 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03324:Gpatch1
|
APN |
7 |
34,993,120 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03324:Gpatch1
|
APN |
7 |
34,998,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0066:Gpatch1
|
UTSW |
7 |
34,986,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Gpatch1
|
UTSW |
7 |
34,986,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Gpatch1
|
UTSW |
7 |
34,986,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Gpatch1
|
UTSW |
7 |
34,997,056 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0382:Gpatch1
|
UTSW |
7 |
35,001,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Gpatch1
|
UTSW |
7 |
34,980,806 (GRCm39) |
intron |
probably benign |
|
|
R0791:Gpatch1
|
UTSW |
7 |
34,980,801 (GRCm39) |
intron |
probably benign |
|
|
R1162:Gpatch1
|
UTSW |
7 |
35,002,905 (GRCm39) |
splice site |
probably benign |
|
|
R1374:Gpatch1
|
UTSW |
7 |
34,991,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Gpatch1
|
UTSW |
7 |
35,002,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Gpatch1
|
UTSW |
7 |
34,994,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1682:Gpatch1
|
UTSW |
7 |
35,002,812 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1887:Gpatch1
|
UTSW |
7 |
35,002,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1935:Gpatch1
|
UTSW |
7 |
34,994,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Gpatch1
|
UTSW |
7 |
34,994,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Gpatch1
|
UTSW |
7 |
34,998,701 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2205:Gpatch1
|
UTSW |
7 |
34,991,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Gpatch1
|
UTSW |
7 |
34,993,252 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2274:Gpatch1
|
UTSW |
7 |
34,988,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2275:Gpatch1
|
UTSW |
7 |
34,988,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4126:Gpatch1
|
UTSW |
7 |
34,993,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4705:Gpatch1
|
UTSW |
7 |
34,998,730 (GRCm39) |
splice site |
probably null |
|
|
R5227:Gpatch1
|
UTSW |
7 |
35,008,776 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5567:Gpatch1
|
UTSW |
7 |
35,006,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5810:Gpatch1
|
UTSW |
7 |
34,994,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5946:Gpatch1
|
UTSW |
7 |
34,991,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6263:Gpatch1
|
UTSW |
7 |
35,002,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6386:Gpatch1
|
UTSW |
7 |
34,991,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6569:Gpatch1
|
UTSW |
7 |
34,991,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6847:Gpatch1
|
UTSW |
7 |
34,992,983 (GRCm39) |
splice site |
probably null |
|
|
R7186:Gpatch1
|
UTSW |
7 |
34,994,738 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7259:Gpatch1
|
UTSW |
7 |
34,986,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7276:Gpatch1
|
UTSW |
7 |
34,996,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7516:Gpatch1
|
UTSW |
7 |
35,007,625 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7521:Gpatch1
|
UTSW |
7 |
34,993,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Gpatch1
|
UTSW |
7 |
35,008,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Gpatch1
|
UTSW |
7 |
34,993,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7588:Gpatch1
|
UTSW |
7 |
34,991,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Gpatch1
|
UTSW |
7 |
34,980,879 (GRCm39) |
missense |
unknown |
|
|
R8353:Gpatch1
|
UTSW |
7 |
34,976,704 (GRCm39) |
intron |
probably benign |
|
|
R8430:Gpatch1
|
UTSW |
7 |
35,007,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Gpatch1
|
UTSW |
7 |
34,991,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Gpatch1
|
UTSW |
7 |
34,994,806 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Gpatch1
|
UTSW |
7 |
35,009,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Gpatch1
|
UTSW |
7 |
35,017,770 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Gpatch1
|
UTSW |
7 |
34,997,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1186:Gpatch1
|
UTSW |
7 |
34,980,797 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gpatch1
|
UTSW |
7 |
35,017,770 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Gpatch1
|
UTSW |
7 |
34,997,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1191:Gpatch1
|
UTSW |
7 |
34,980,797 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation