Incidental Mutation 'IGL02529:Gmip'
| ID |
297215 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
IGL02529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70269439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 537
(G537E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036074]
[ENSMUST00000123453]
|
| AlphaFold |
Q6PGG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036074
AA Change: G537E
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: G537E
| 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 damaging
Transcript: ENSMUST00000123453
AA Change: G537E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: G537E
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
| Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
| Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
| Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
| Ccdc7b |
C |
T |
8: 129,904,706 (GRCm39) |
L115F |
possibly damaging |
Het |
| Ces2a |
T |
A |
8: 105,463,851 (GRCm39) |
|
probably benign |
Het |
| Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
| Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,831 (GRCm39) |
R70* |
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,792 (GRCm39) |
H353Q |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
| Limch1 |
C |
A |
5: 67,159,956 (GRCm39) |
N617K |
possibly damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,890,770 (GRCm39) |
K152R |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
| Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
| Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
| Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
| Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
| Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
probably damaging |
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 |
|
|
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 |
|
R6163:Gmip
|
UTSW |
8 |
70,270,022 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation