Incidental Mutation 'R2274:Gpatch1'
ID |
244967 |
Institutional Source |
Beutler Lab
|
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 # |
R2274 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34988103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 678
(S678T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
AlphaFold |
Q9DBM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079693
AA Change: S678T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000078632 Gene: ENSMUSG00000063808 AA Change: S678T
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: S678T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000117475 Gene: ENSMUSG00000063808 AA Change: S678T
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: ENSMUST00000206758
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
Abcb10 |
G |
T |
8: 124,709,491 (GRCm39) |
A21E |
probably benign |
Het |
Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,255,766 (GRCm39) |
S1593C |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
Aqp4 |
A |
G |
18: 15,526,537 (GRCm39) |
S315P |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,848 (GRCm39) |
I433V |
probably benign |
Het |
Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
Car5a |
C |
T |
8: 122,671,408 (GRCm39) |
|
probably null |
Het |
Cdk11b |
T |
A |
4: 155,732,051 (GRCm39) |
|
probably benign |
Het |
Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
Egr4 |
A |
T |
6: 85,489,725 (GRCm39) |
F112I |
probably damaging |
Het |
Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,050,048 (GRCm39) |
V3970D |
possibly damaging |
Het |
Fbxw5 |
C |
A |
2: 25,394,773 (GRCm39) |
C222* |
probably null |
Het |
Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
Ghr |
A |
G |
15: 3,349,507 (GRCm39) |
V557A |
probably benign |
Het |
Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,178,479 (GRCm39) |
|
probably null |
Het |
Gucy2f |
A |
T |
X: 140,899,269 (GRCm39) |
M697K |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,520,653 (GRCm39) |
T195A |
probably benign |
Het |
Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
Irf8 |
A |
G |
8: 121,480,266 (GRCm39) |
E168G |
probably damaging |
Het |
Kcnh1 |
T |
G |
1: 192,019,829 (GRCm39) |
V358G |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
L3hypdh |
T |
C |
12: 72,131,632 (GRCm39) |
Y100C |
possibly damaging |
Het |
Map4k1 |
T |
A |
7: 28,701,382 (GRCm39) |
H729Q |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,091,770 (GRCm39) |
S291L |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,081,184 (GRCm39) |
K1267E |
possibly damaging |
Het |
Nbea |
A |
T |
3: 55,895,506 (GRCm39) |
|
probably null |
Het |
Nexmif |
T |
G |
X: 103,131,452 (GRCm39) |
E155A |
possibly damaging |
Het |
Nkpd1 |
A |
G |
7: 19,257,822 (GRCm39) |
I534V |
probably benign |
Het |
Nxph1 |
G |
T |
6: 9,247,746 (GRCm39) |
C239F |
probably damaging |
Het |
Odc1 |
A |
G |
12: 17,598,425 (GRCm39) |
I189V |
probably benign |
Het |
Or1n1 |
A |
T |
2: 36,750,113 (GRCm39) |
N82K |
probably damaging |
Het |
Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,608,496 (GRCm39) |
L576P |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,537,659 (GRCm39) |
D499G |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,647,148 (GRCm39) |
C246* |
probably null |
Het |
Rtl1 |
T |
C |
12: 109,561,101 (GRCm39) |
E246G |
unknown |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,705,283 (GRCm39) |
M830V |
probably benign |
Het |
Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
St3gal6 |
T |
A |
16: 58,309,332 (GRCm39) |
E34D |
possibly damaging |
Het |
Tcstv3 |
C |
T |
13: 120,779,190 (GRCm39) |
Q30* |
probably null |
Het |
Tex16 |
T |
A |
X: 111,030,838 (GRCm39) |
D1112E |
probably damaging |
Het |
Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
Tmf1 |
T |
A |
6: 97,140,547 (GRCm39) |
L776F |
probably damaging |
Het |
Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Vmn1r49 |
G |
A |
6: 90,049,126 (GRCm39) |
T292I |
probably benign |
Het |
Wdr19 |
T |
A |
5: 65,398,334 (GRCm39) |
M853K |
possibly damaging |
Het |
Zkscan8 |
C |
T |
13: 21,705,966 (GRCm39) |
M265I |
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 |
|
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACATGTACATGCACACGGG -3'
(R):5'- AATCTCTGGGCTTGGGTCTC -3'
Sequencing Primer
(F):5'- CACGGGCACACATATGTACATGG -3'
(R):5'- GGCTTGGGTCTCTCTGCAC -3'
|
Posted On |
2014-10-30 |