Incidental Mutation 'IGL03107:Gpatch1'
ID |
419035 |
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 # |
IGL03107
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 35002742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 256
(N256T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
AlphaFold |
Q9DBM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079693
AA Change: N256T
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000078632 Gene: ENSMUSG00000063808 AA Change: N256T
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 benign
Transcript: ENSMUST00000131213
AA Change: N256T
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117475 Gene: ENSMUSG00000063808 AA Change: N256T
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
C |
16: 19,702,518 (GRCm39) |
|
noncoding transcript |
Het |
Angpt4 |
A |
G |
2: 151,785,342 (GRCm39) |
M453V |
probably benign |
Het |
Atr |
T |
A |
9: 95,779,783 (GRCm39) |
D1380E |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,278,438 (GRCm39) |
M177K |
probably damaging |
Het |
Cenpk |
T |
A |
13: 104,379,280 (GRCm39) |
I203N |
probably damaging |
Het |
Cerk |
A |
T |
15: 86,027,014 (GRCm39) |
N165K |
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,242,869 (GRCm39) |
|
probably benign |
Het |
Crb2 |
A |
T |
2: 37,681,428 (GRCm39) |
D757V |
probably benign |
Het |
Csnk1a1 |
A |
G |
18: 61,701,376 (GRCm39) |
D91G |
probably damaging |
Het |
Dnajc6 |
G |
T |
4: 101,474,057 (GRCm39) |
W486L |
probably damaging |
Het |
Elmod1 |
C |
T |
9: 53,841,507 (GRCm39) |
|
probably benign |
Het |
Ercc3 |
G |
T |
18: 32,381,360 (GRCm39) |
R392L |
possibly damaging |
Het |
Fam135b |
C |
T |
15: 71,335,410 (GRCm39) |
V595I |
probably benign |
Het |
Fem1al |
T |
A |
11: 29,774,360 (GRCm39) |
I366F |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,775,059 (GRCm39) |
S256T |
probably damaging |
Het |
Fstl5 |
G |
T |
3: 76,443,618 (GRCm39) |
C321F |
probably damaging |
Het |
Gpd2 |
T |
A |
2: 57,245,581 (GRCm39) |
S425R |
probably damaging |
Het |
Igkv4-57-1 |
T |
G |
6: 69,521,574 (GRCm39) |
M43L |
probably benign |
Het |
Itgae |
A |
G |
11: 73,004,427 (GRCm39) |
Q238R |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,588,510 (GRCm39) |
D1042E |
probably benign |
Het |
Lcn8 |
G |
A |
2: 25,545,377 (GRCm39) |
G156D |
probably damaging |
Het |
Loxl4 |
A |
C |
19: 42,593,718 (GRCm39) |
V224G |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,285,177 (GRCm39) |
D3827V |
probably damaging |
Het |
Neb |
C |
A |
2: 52,073,837 (GRCm39) |
R231S |
probably benign |
Het |
Or2g1 |
G |
A |
17: 38,106,679 (GRCm39) |
V115I |
probably benign |
Het |
Or5b105 |
A |
T |
19: 13,080,401 (GRCm39) |
M89K |
probably benign |
Het |
Or6c211 |
A |
G |
10: 129,505,809 (GRCm39) |
M193T |
probably benign |
Het |
Or6d13 |
T |
G |
6: 116,517,900 (GRCm39) |
M162R |
possibly damaging |
Het |
Or8g54 |
T |
G |
9: 39,707,475 (GRCm39) |
M268R |
probably benign |
Het |
Pappa |
T |
G |
4: 65,122,940 (GRCm39) |
S758R |
probably damaging |
Het |
Pced1a |
G |
A |
2: 130,264,755 (GRCm39) |
T61I |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,250,594 (GRCm39) |
D731G |
probably damaging |
Het |
Plxnb1 |
G |
A |
9: 108,934,054 (GRCm39) |
D761N |
probably benign |
Het |
Pmp22 |
T |
C |
11: 63,049,135 (GRCm39) |
V126A |
probably benign |
Het |
Ppp6r2 |
G |
T |
15: 89,152,748 (GRCm39) |
R296S |
probably damaging |
Het |
Prkcq |
A |
C |
2: 11,265,597 (GRCm39) |
H438P |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,774,624 (GRCm39) |
Y2339F |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,765,686 (GRCm39) |
|
probably benign |
Het |
Scp2 |
T |
A |
4: 107,955,312 (GRCm39) |
I144F |
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,806,793 (GRCm39) |
|
probably null |
Het |
Sema5a |
T |
A |
15: 32,669,554 (GRCm39) |
Y693N |
probably damaging |
Het |
Sin3b |
T |
A |
8: 73,480,213 (GRCm39) |
I905K |
probably damaging |
Het |
Slc13a3 |
T |
A |
2: 165,279,227 (GRCm39) |
M195L |
probably benign |
Het |
Strada |
A |
G |
11: 106,054,863 (GRCm39) |
|
probably benign |
Het |
Stx18 |
G |
A |
5: 38,293,655 (GRCm39) |
V294M |
probably damaging |
Het |
Tbpl2 |
A |
T |
2: 23,983,845 (GRCm39) |
N197K |
probably benign |
Het |
Tdrd9 |
A |
T |
12: 112,009,274 (GRCm39) |
H1060L |
probably damaging |
Het |
Tm4sf5 |
G |
A |
11: 70,396,223 (GRCm39) |
V23M |
possibly damaging |
Het |
Tmem54 |
C |
A |
4: 129,004,705 (GRCm39) |
L187I |
probably damaging |
Het |
Tmprss5 |
A |
G |
9: 49,024,528 (GRCm39) |
H281R |
possibly damaging |
Het |
Trim30c |
A |
G |
7: 104,031,820 (GRCm39) |
Y332H |
possibly damaging |
Het |
Uba6 |
T |
A |
5: 86,275,633 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
A |
1: 66,670,613 (GRCm39) |
P1912Q |
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 |
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 |
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 |
2016-08-02 |