Incidental Mutation 'IGL02926:Gpatch1'
ID |
363880 |
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 # |
IGL02926
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35007694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
AlphaFold |
Q9DBM1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079693
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078632 Gene: ENSMUSG00000063808 AA Change: D122G
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: D122G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117475 Gene: ENSMUSG00000063808 AA Change: D122G
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,685,326 (GRCm39) |
K399R |
probably benign |
Het |
Ciao3 |
A |
G |
17: 26,001,128 (GRCm39) |
H460R |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,972,568 (GRCm39) |
|
probably null |
Het |
Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,376,439 (GRCm39) |
N320K |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
probably damaging |
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 |
|
IGL02349:Gpatch1
|
APN |
7 |
35,006,680 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02792:Gpatch1
|
APN |
7 |
35,001,018 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
2015-12-18 |