Incidental Mutation 'R7186:Gpatch1'
| ID |
559292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch1
|
| Ensembl Gene |
ENSMUSG00000063808 |
| Gene Name |
G patch domain containing 1 |
| Synonyms |
Gpatc1, 1300003A17Rik |
| MMRRC Submission |
045271-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
34975969-35017865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34994738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 509
(D509E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079693]
[ENSMUST00000131143]
[ENSMUST00000131213]
|
| AlphaFold |
Q9DBM1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079693
AA Change: D509E
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: D509E
| 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 |
possibly damaging
Transcript: ENSMUST00000131213
AA Change: D509E
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: D509E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,910,100 (GRCm39) |
I778F |
possibly damaging |
Het |
| Adam39 |
A |
T |
8: 41,279,349 (GRCm39) |
N580I |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,220,689 (GRCm39) |
S1415P |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,816,758 (GRCm39) |
Y743H |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,831 (GRCm39) |
V320A |
probably damaging |
Het |
| Arid1a |
TGCCGCCGCCGCCGCCGCCGCCG |
TGCCGCCGCCGCCGCCGCCG |
4: 133,480,544 (GRCm39) |
|
|
Het |
| Art5 |
G |
T |
7: 101,746,536 (GRCm39) |
R268S |
probably benign |
Het |
| Bfar |
T |
C |
16: 13,510,371 (GRCm39) |
V238A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
G |
A |
18: 34,770,175 (GRCm39) |
T408I |
probably damaging |
Het |
| Cdh24 |
G |
C |
14: 54,870,949 (GRCm39) |
P522A |
probably benign |
Het |
| Clk4 |
T |
C |
11: 51,159,607 (GRCm39) |
V61A |
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,611,115 (GRCm39) |
|
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,363,787 (GRCm39) |
D292G |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,907,383 (GRCm39) |
E34G |
probably benign |
Het |
| Elovl7 |
A |
G |
13: 108,408,382 (GRCm39) |
E127G |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,187,252 (GRCm39) |
R235* |
probably null |
Het |
| Gbp3 |
G |
A |
3: 142,269,923 (GRCm39) |
V77M |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,372,569 (GRCm39) |
F450I |
probably benign |
Het |
| Gipc1 |
A |
G |
8: 84,390,762 (GRCm39) |
E289G |
possibly damaging |
Het |
| Gm4924 |
T |
C |
10: 82,214,778 (GRCm39) |
Y859H |
unknown |
Het |
| Gpbp1 |
A |
G |
13: 111,577,233 (GRCm39) |
V219A |
possibly damaging |
Het |
| Gpr107 |
A |
T |
2: 31,042,371 (GRCm39) |
M1L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,552,034 (GRCm39) |
F1003L |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,814 (GRCm39) |
T685A |
probably benign |
Het |
| Hpse |
T |
A |
5: 100,843,395 (GRCm39) |
D259V |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,040,826 (GRCm39) |
|
probably null |
Het |
| Ighv14-1 |
T |
C |
12: 113,895,649 (GRCm39) |
D92G |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,385,083 (GRCm39) |
|
probably null |
Het |
| Lsp1 |
T |
C |
7: 142,044,089 (GRCm39) |
V278A |
probably damaging |
Het |
| Lurap1l |
C |
A |
4: 80,829,747 (GRCm39) |
S52R |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,577 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,009,575 (GRCm39) |
E399G |
unknown |
Het |
| Ncapd2 |
A |
G |
6: 125,163,119 (GRCm39) |
S130P |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,178,973 (GRCm39) |
V321A |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,352,954 (GRCm39) |
H17R |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,920 (GRCm39) |
W419R |
probably damaging |
Het |
| Or4d2b |
G |
A |
11: 87,780,591 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,507 (GRCm39) |
D70E |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,473 (GRCm39) |
R270G |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,353,678 (GRCm39) |
M1K |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,822,172 (GRCm39) |
A313V |
probably damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,010,080 (GRCm39) |
N229K |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,401 (GRCm39) |
C104S |
probably damaging |
Het |
| Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
G |
T |
3: 94,865,659 (GRCm39) |
K319N |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,242 (GRCm39) |
T207S |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,125,608 (GRCm39) |
T1305A |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,744 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
A |
C |
14: 75,269,453 (GRCm39) |
D37A |
possibly damaging |
Het |
| Saxo5 |
T |
C |
8: 3,529,049 (GRCm39) |
F208S |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,567 (GRCm39) |
Y802C |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,715 (GRCm39) |
Y433* |
probably null |
Het |
| Sgk3 |
T |
A |
1: 9,956,227 (GRCm39) |
V331D |
probably benign |
Het |
| Sirt7 |
C |
T |
11: 120,511,311 (GRCm39) |
R280H |
probably benign |
Het |
| Snx13 |
G |
C |
12: 35,142,912 (GRCm39) |
R252S |
probably damaging |
Het |
| Stk32b |
G |
T |
5: 37,624,125 (GRCm39) |
D207E |
probably damaging |
Het |
| Sult2a7 |
C |
T |
7: 14,203,978 (GRCm39) |
V262I |
not run |
Het |
| Tcstv7b |
C |
T |
13: 120,702,587 (GRCm39) |
L128F |
probably damaging |
Het |
| Tent5b |
T |
A |
4: 133,213,518 (GRCm39) |
F130I |
probably damaging |
Het |
| Tmem33 |
G |
C |
5: 67,421,130 (GRCm39) |
V35L |
possibly damaging |
Het |
| Uba1y |
A |
G |
Y: 825,537 (GRCm39) |
I300V |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,942,060 (GRCm39) |
V344E |
probably benign |
Het |
| Usp50 |
C |
T |
2: 126,625,218 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
A |
C |
18: 3,122,661 (GRCm39) |
F251C |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,150 (GRCm39) |
Y829* |
probably null |
Het |
| Wars1 |
A |
G |
12: 108,846,982 (GRCm39) |
F141L |
probably damaging |
Het |
| Zfp879 |
A |
G |
11: 50,724,621 (GRCm39) |
V145A |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,640,204 (GRCm39) |
V56D |
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 |
|
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 |
|
|
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'- GCACCATTTATACCAAGTGGACC -3'
(R):5'- GTCAGCTACTTCAGTGTTGGAG -3'
Sequencing Primer
(F):5'- TTATACCAAGTGGACCAAAACTAACG -3'
(R):5'- AGTGTTGGAGTTTCTGTCTCAAAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation