Incidental Mutation 'R1556:Gpatch1'
| ID |
170265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch1
|
| Ensembl Gene |
ENSMUSG00000063808 |
| Gene Name |
G patch domain containing 1 |
| Synonyms |
Gpatc1, 1300003A17Rik |
| MMRRC Submission |
039595-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34994776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 497
(T497A)
|
| 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: T497A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: T497A
| 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: T497A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: T497A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,203,477 (GRCm39) |
S302P |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,466,819 (GRCm39) |
T1626A |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Arid5a |
T |
A |
1: 36,359,245 (GRCm39) |
Y520* |
probably null |
Het |
| Aven |
G |
A |
2: 112,461,230 (GRCm39) |
M215I |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,837 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,535,551 (GRCm39) |
Y168H |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,556,676 (GRCm39) |
T44S |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,338,558 (GRCm39) |
I867N |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,672 (GRCm39) |
V1783A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,208,214 (GRCm39) |
S31P |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,958,761 (GRCm39) |
W279R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,890,921 (GRCm39) |
I2817F |
possibly damaging |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gdf7 |
T |
C |
12: 8,351,698 (GRCm39) |
N79S |
unknown |
Het |
| Gpam |
A |
G |
19: 55,064,763 (GRCm39) |
V647A |
possibly damaging |
Het |
| Grin2a |
A |
T |
16: 9,525,579 (GRCm39) |
F337L |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,503,390 (GRCm39) |
V69D |
possibly damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,205 (GRCm39) |
Y56H |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,351,219 (GRCm39) |
|
probably null |
Het |
| Krt77 |
A |
G |
15: 101,769,713 (GRCm39) |
S386P |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,566,203 (GRCm39) |
M342K |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,010 (GRCm39) |
T186A |
probably benign |
Het |
| Lins1 |
C |
A |
7: 66,360,385 (GRCm39) |
C168* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,923,928 (GRCm39) |
T413M |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,348,813 (GRCm39) |
D4038G |
probably damaging |
Het |
| Mark3 |
T |
G |
12: 111,594,275 (GRCm39) |
N308K |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,367 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,179,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15c |
G |
A |
14: 50,321,916 (GRCm39) |
A74V |
possibly damaging |
Het |
| Or51a24 |
T |
A |
7: 103,733,468 (GRCm39) |
H273L |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,242 (GRCm39) |
V168A |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,894,068 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,015,836 (GRCm39) |
T408A |
probably damaging |
Het |
| Pcdh8 |
T |
G |
14: 80,007,843 (GRCm39) |
D240A |
probably damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,502,911 (GRCm39) |
|
probably null |
Het |
| Pecr |
T |
A |
1: 72,298,542 (GRCm39) |
I293L |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,226,402 (GRCm39) |
V583A |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,602,143 (GRCm39) |
K371R |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,196,626 (GRCm39) |
R769G |
possibly damaging |
Het |
| Sgtb |
T |
A |
13: 104,276,284 (GRCm39) |
N237K |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,476,751 (GRCm39) |
V91A |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,554 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,778,872 (GRCm38) |
V940A |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,499 (GRCm39) |
T740A |
probably benign |
Het |
| Tnk2 |
G |
T |
16: 32,489,737 (GRCm39) |
|
probably null |
Het |
| Trpv2 |
A |
G |
11: 62,483,059 (GRCm39) |
Y450C |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,948,054 (GRCm39) |
T354A |
probably benign |
Het |
| Tvp23a |
A |
T |
16: 10,264,862 (GRCm39) |
D16E |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,997,850 (GRCm39) |
F460L |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,356 (GRCm39) |
L1021P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,837,993 (GRCm39) |
Y1848H |
probably damaging |
Het |
| Vwa8 |
T |
G |
14: 79,324,121 (GRCm39) |
N1141K |
probably benign |
Het |
| Yipf3 |
A |
G |
17: 46,561,793 (GRCm39) |
Y200C |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,044 (GRCm39) |
V680A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,347 (GRCm39) |
E722G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,806,059 (GRCm39) |
L2665H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGAGGGTCTGAAAACTCTGCAC -3'
(R):5'- TTACACACTCCAGGCATTGGCG -3'
Sequencing Primer
(F):5'- TGCACCATTTATACCAAGTGGAC -3'
(R):5'- GGCCAGTTATGTAAATATGCAGCTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation