Incidental Mutation 'R6263:Gpatch1'
| ID |
506823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch1
|
| Ensembl Gene |
ENSMUSG00000063808 |
| Gene Name |
G patch domain containing 1 |
| Synonyms |
Gpatc1, 1300003A17Rik |
| MMRRC Submission |
044437-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35002848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 221
(D221Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
| AlphaFold |
Q9DBM1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079693
AA Change: D221Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: D221Y
| 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: D221Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: D221Y
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,995,641 (GRCm39) |
I5642V |
probably benign |
Het |
| Atp5f1a |
A |
G |
18: 77,866,930 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,985,260 (GRCm39) |
N863K |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,990,453 (GRCm39) |
F1766L |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,938,807 (GRCm39) |
Q266R |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,964,154 (GRCm39) |
D105E |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,539 (GRCm39) |
D418V |
probably damaging |
Het |
| Cnnm2 |
C |
A |
19: 46,845,344 (GRCm39) |
T612K |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,735 (GRCm39) |
V55A |
unknown |
Het |
| Cpd |
A |
C |
11: 76,737,097 (GRCm39) |
D232E |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,947,333 (GRCm39) |
H95R |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,937,130 (GRCm39) |
H596L |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,726,515 (GRCm39) |
R855G |
possibly damaging |
Het |
| Cwc25 |
A |
G |
11: 97,644,053 (GRCm39) |
Y227H |
probably damaging |
Het |
| Cyp2c38 |
G |
A |
19: 39,380,659 (GRCm39) |
P409S |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,679,139 (GRCm39) |
S2P |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,348,238 (GRCm39) |
G2570W |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,174,292 (GRCm39) |
V528E |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,810,312 (GRCm39) |
D3150N |
unknown |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,213,895 (GRCm39) |
Y1225C |
probably damaging |
Het |
| Itga7 |
T |
A |
10: 128,779,955 (GRCm39) |
D501E |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,243 (GRCm39) |
S743P |
possibly damaging |
Het |
| Lilra5 |
A |
T |
7: 4,241,360 (GRCm39) |
Y99F |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,410,265 (GRCm39) |
V49A |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,603 (GRCm39) |
R267* |
probably null |
Het |
| Mapkbp1 |
T |
C |
2: 119,853,772 (GRCm39) |
S1199P |
probably damaging |
Het |
| Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
| Myh10 |
A |
T |
11: 68,701,058 (GRCm39) |
N1756Y |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,159,378 (GRCm39) |
I31T |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,708,570 (GRCm39) |
F732I |
probably benign |
Het |
| Or4a39 |
C |
G |
2: 89,237,074 (GRCm39) |
M116I |
possibly damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,104 (GRCm39) |
C145S |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,403 (GRCm39) |
V269F |
possibly damaging |
Het |
| Pax6 |
T |
C |
2: 105,523,199 (GRCm39) |
|
probably null |
Het |
| Phb1 |
A |
G |
11: 95,568,941 (GRCm39) |
E192G |
probably damaging |
Het |
| Plekhn1 |
A |
T |
4: 156,309,650 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,046,189 (GRCm39) |
V942E |
probably damaging |
Het |
| Potegl |
T |
A |
2: 23,156,745 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
G |
A |
5: 123,877,751 (GRCm39) |
|
probably benign |
Het |
| Septin8 |
G |
A |
11: 53,439,210 (GRCm39) |
C460Y |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,130,508 (GRCm39) |
I59T |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,065,365 (GRCm39) |
I172N |
possibly damaging |
Het |
| Smg5 |
A |
T |
3: 88,249,208 (GRCm39) |
N40Y |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,818,541 (GRCm39) |
V633A |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,324 (GRCm39) |
V22A |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,076,295 (GRCm39) |
M741K |
probably damaging |
Het |
| Spata31d1d |
T |
C |
13: 59,873,797 (GRCm39) |
Q1246R |
probably benign |
Het |
| Sval1 |
A |
G |
6: 41,928,660 (GRCm39) |
E24G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,867 (GRCm39) |
I59V |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,857,992 (GRCm39) |
T85S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,996 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
A |
C |
19: 18,831,472 (GRCm39) |
T1446P |
possibly damaging |
Het |
| Tsc22d4 |
A |
T |
5: 137,766,441 (GRCm39) |
K502N |
possibly damaging |
Het |
| Tssk3 |
C |
T |
4: 129,383,051 (GRCm39) |
S207N |
probably benign |
Het |
| Ttbk1 |
G |
T |
17: 46,778,188 (GRCm39) |
P618Q |
probably damaging |
Het |
| Ttll6 |
A |
T |
11: 96,047,371 (GRCm39) |
M657L |
probably benign |
Het |
| Ubash3a |
T |
A |
17: 31,434,069 (GRCm39) |
I138N |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,090,839 (GRCm39) |
Y490C |
probably damaging |
Het |
| Vmn1r82 |
G |
T |
7: 12,039,461 (GRCm39) |
V127F |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,479,691 (GRCm39) |
S161T |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,388,824 (GRCm39) |
I58M |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,579,417 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,619 (GRCm39) |
Y324* |
probably null |
Het |
| Zfp747 |
A |
C |
7: 126,975,138 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,905,702 (GRCm39) |
Y33C |
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 |
|
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 |
|
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'- CAGTGTTACTGCTTTTACAACATGG -3'
(R):5'- TGGTCATTGATGGCAGCAG -3'
Sequencing Primer
(F):5'- CATGGAAACTTTTACCTGGCCAG -3'
(R):5'- TCATTGATGGCAGCAGAAGTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation