Incidental Mutation 'R6163:Gmip'
| ID |
489976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R6163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70270022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 675
(V675E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036074]
[ENSMUST00000123453]
|
| AlphaFold |
Q6PGG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036074
AA Change: V675E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: V675E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QWE|A
|
85 |
356 |
1e-149 |
PDB |
|
low complexity region
|
358 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
C1
|
491 |
536 |
1.75e-6 |
SMART |
|
RhoGAP
|
561 |
753 |
1.06e-61 |
SMART |
|
Blast:RhoGAP
|
824 |
971 |
1e-53 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123453
AA Change: V675E
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: V675E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QWE|A
|
85 |
356 |
1e-150 |
PDB |
|
low complexity region
|
358 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
C1
|
491 |
536 |
1.75e-6 |
SMART |
|
RhoGAP
|
561 |
753 |
1.06e-61 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142659
|
| SMART Domains |
Protein: ENSMUSP00000114525
Gene: ENSMUSG00000036246
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
2 |
25 |
1e-7 |
BLAST |
|
SCOP:d1f7ca_
|
3 |
32 |
7e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154903
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,098 (GRCm39) |
Q228* |
probably null |
Het |
| Asic5 |
A |
G |
3: 81,913,833 (GRCm39) |
N169S |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,004,593 (GRCm39) |
L374H |
probably benign |
Het |
| Birc2 |
G |
A |
9: 7,819,036 (GRCm39) |
T544I |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Cc2d2b |
C |
T |
19: 40,744,950 (GRCm39) |
T23I |
probably benign |
Het |
| Ccdc137 |
G |
T |
11: 120,350,927 (GRCm39) |
R108L |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,764 (GRCm39) |
I2308T |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,308,620 (GRCm39) |
T103A |
probably benign |
Het |
| Cpvl |
C |
A |
6: 53,850,503 (GRCm39) |
V445F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,950 (GRCm39) |
S303P |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,657,761 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cyp51 |
T |
A |
5: 4,150,199 (GRCm39) |
I175F |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,723,828 (GRCm39) |
P695S |
possibly damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,896,641 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,493,926 (GRCm39) |
L1694P |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,411,729 (GRCm39) |
Q298* |
probably null |
Het |
| Dsg2 |
G |
T |
18: 20,731,726 (GRCm39) |
|
probably null |
Het |
| Esr2 |
A |
C |
12: 76,168,643 (GRCm39) |
V522G |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,494,962 (GRCm39) |
H262L |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,178,051 (GRCm39) |
M373L |
probably benign |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,423,092 (GRCm39) |
E213D |
probably damaging |
Het |
| Grb10 |
C |
A |
11: 11,893,932 (GRCm39) |
E330* |
probably null |
Het |
| H2ac13 |
A |
T |
13: 21,900,859 (GRCm39) |
N90Y |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,736 (GRCm39) |
K778R |
probably damaging |
Het |
| Ighv1-26 |
T |
C |
12: 114,752,416 (GRCm39) |
S4G |
probably benign |
Het |
| Igkv3-3 |
T |
A |
6: 70,664,257 (GRCm39) |
V33E |
possibly damaging |
Het |
| Itga2 |
C |
A |
13: 115,002,726 (GRCm39) |
G588V |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,365,245 (GRCm39) |
H58Y |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,083,827 (GRCm39) |
D2365E |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,686,809 (GRCm39) |
Y518C |
probably damaging |
Het |
| Marchf6 |
G |
C |
15: 31,465,497 (GRCm39) |
H802Q |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,268,126 (GRCm39) |
S26P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,716,040 (GRCm39) |
L2074Q |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,793 (GRCm39) |
E174G |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,326 (GRCm39) |
H860R |
probably benign |
Het |
| Neurod1 |
A |
G |
2: 79,284,505 (GRCm39) |
F293L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,131 (GRCm39) |
A905E |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,592 (GRCm39) |
I4N |
possibly damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,595 (GRCm39) |
Y220* |
probably null |
Het |
| Or5b12b |
A |
C |
19: 12,861,472 (GRCm39) |
T76P |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,024 (GRCm39) |
I297T |
probably benign |
Het |
| Otop1 |
C |
A |
5: 38,445,234 (GRCm39) |
|
probably null |
Het |
| Otp |
A |
G |
13: 95,012,288 (GRCm39) |
H4R |
probably damaging |
Het |
| P4htm |
A |
C |
9: 108,459,150 (GRCm39) |
Y261D |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,369 (GRCm39) |
R1419W |
probably damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,605 (GRCm39) |
K183E |
probably damaging |
Het |
| Prkd3 |
C |
A |
17: 79,273,784 (GRCm39) |
D491Y |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,454 (GRCm39) |
L64R |
possibly damaging |
Het |
| Pygo1 |
G |
T |
9: 72,851,980 (GRCm39) |
A56S |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,404,470 (GRCm39) |
T189A |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,349,254 (GRCm39) |
H3784L |
possibly damaging |
Het |
| Rps6ka5 |
T |
G |
12: 100,562,179 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
T |
A |
7: 99,338,106 (GRCm39) |
I93F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,690 (GRCm39) |
*408W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,109,443 (GRCm39) |
E51* |
probably null |
Het |
| Ssc5d |
T |
A |
7: 4,930,253 (GRCm39) |
H111Q |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,280,981 (GRCm39) |
N41D |
probably benign |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,882,710 (GRCm39) |
E2G |
possibly damaging |
Het |
| Tff2 |
T |
C |
17: 31,363,152 (GRCm39) |
E24G |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,103,068 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,946,477 (GRCm39) |
D311E |
probably benign |
Het |
| Usp15 |
G |
T |
10: 123,004,210 (GRCm39) |
N181K |
probably damaging |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,591 (GRCm39) |
E12A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,773 (GRCm39) |
S302P |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,825 (GRCm39) |
M690T |
probably benign |
Het |
| Wee1 |
T |
A |
7: 109,734,858 (GRCm39) |
H465Q |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
Het |
|
| Other mutations in Gmip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Gmip
|
APN |
8 |
70,269,661 (GRCm39) |
nonsense |
probably null |
|
|
IGL02529:Gmip
|
APN |
8 |
70,269,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03185:Gmip
|
APN |
8 |
70,262,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03328:Gmip
|
APN |
8 |
70,264,261 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
microdot
|
UTSW |
8 |
70,266,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
minnox
|
UTSW |
8 |
70,270,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
puncta
|
UTSW |
8 |
70,268,736 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0110:Gmip
|
UTSW |
8 |
70,268,259 (GRCm39) |
unclassified |
probably benign |
|
|
R0329:Gmip
|
UTSW |
8 |
70,263,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0330:Gmip
|
UTSW |
8 |
70,263,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0510:Gmip
|
UTSW |
8 |
70,268,259 (GRCm39) |
unclassified |
probably benign |
|
|
R0638:Gmip
|
UTSW |
8 |
70,264,095 (GRCm39) |
splice site |
probably benign |
|
|
R1692:Gmip
|
UTSW |
8 |
70,266,553 (GRCm39) |
missense |
probably benign |
|
|
R1721:Gmip
|
UTSW |
8 |
70,263,882 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1755:Gmip
|
UTSW |
8 |
70,266,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Gmip
|
UTSW |
8 |
70,267,127 (GRCm39) |
missense |
probably benign |
|
|
R1894:Gmip
|
UTSW |
8 |
70,273,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Gmip
|
UTSW |
8 |
70,268,170 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2005:Gmip
|
UTSW |
8 |
70,266,693 (GRCm39) |
missense |
probably benign |
|
|
R4280:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4281:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4282:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4283:Gmip
|
UTSW |
8 |
70,266,251 (GRCm39) |
unclassified |
probably benign |
|
|
R5221:Gmip
|
UTSW |
8 |
70,266,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Gmip
|
UTSW |
8 |
70,270,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5521:Gmip
|
UTSW |
8 |
70,270,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Gmip
|
UTSW |
8 |
70,270,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Gmip
|
UTSW |
8 |
70,269,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Gmip
|
UTSW |
8 |
70,268,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Gmip
|
UTSW |
8 |
70,268,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6787:Gmip
|
UTSW |
8 |
70,266,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Gmip
|
UTSW |
8 |
70,263,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Gmip
|
UTSW |
8 |
70,263,824 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6852:Gmip
|
UTSW |
8 |
70,270,641 (GRCm39) |
nonsense |
probably null |
|
|
R6934:Gmip
|
UTSW |
8 |
70,273,576 (GRCm39) |
missense |
probably benign |
|
|
R7010:Gmip
|
UTSW |
8 |
70,264,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Gmip
|
UTSW |
8 |
70,270,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7254:Gmip
|
UTSW |
8 |
70,269,118 (GRCm39) |
splice site |
probably null |
|
|
R7351:Gmip
|
UTSW |
8 |
70,270,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Gmip
|
UTSW |
8 |
70,263,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Gmip
|
UTSW |
8 |
70,273,149 (GRCm39) |
missense |
probably benign |
|
|
R7577:Gmip
|
UTSW |
8 |
70,267,085 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7718:Gmip
|
UTSW |
8 |
70,270,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8018:Gmip
|
UTSW |
8 |
70,268,143 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8080:Gmip
|
UTSW |
8 |
70,268,736 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8694:Gmip
|
UTSW |
8 |
70,270,485 (GRCm39) |
missense |
probably benign |
|
|
R8750:Gmip
|
UTSW |
8 |
70,273,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8826:Gmip
|
UTSW |
8 |
70,268,748 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8917:Gmip
|
UTSW |
8 |
70,270,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Gmip
|
UTSW |
8 |
70,269,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Gmip
|
UTSW |
8 |
70,273,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9350:Gmip
|
UTSW |
8 |
70,263,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9463:Gmip
|
UTSW |
8 |
70,269,693 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9547:Gmip
|
UTSW |
8 |
70,273,381 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9771:Gmip
|
UTSW |
8 |
70,266,718 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0063:Gmip
|
UTSW |
8 |
70,262,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gmip
|
UTSW |
8 |
70,268,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGATTTCTTCAGGAGGTAG -3'
(R):5'- GCATCCACAGTTCAGAGTTCAG -3'
Sequencing Primer
(F):5'- TAGGTGGTTCCAGGCCAGAG -3'
(R):5'- ACAGTTCAGAGTTCAGAAGAAATATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation