Incidental Mutation 'R1755:Gmip'
| ID |
194781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmip
|
| Ensembl Gene |
ENSMUSG00000036246 |
| Gene Name |
Gem-interacting protein |
| Synonyms |
5031419I10Rik |
| MMRRC Submission |
039787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R1755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70266774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 296
(I296M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036074]
[ENSMUST00000123453]
|
| AlphaFold |
Q6PGG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036074
AA Change: I296M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: I296M
| 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: I296M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: I296M
| 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: ENSMUST00000156620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154903
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
A |
8: 88,315,585 (GRCm39) |
R225H |
possibly damaging |
Het |
| 9330159F19Rik |
A |
T |
10: 29,098,290 (GRCm39) |
H199L |
possibly damaging |
Het |
| Acaca |
AC |
A |
11: 84,167,390 (GRCm39) |
|
probably null |
Het |
| Adam23 |
G |
A |
1: 63,582,329 (GRCm39) |
V326M |
probably damaging |
Het |
| Aldh1a2 |
T |
A |
9: 71,169,023 (GRCm39) |
Y168* |
probably null |
Het |
| Ano6 |
A |
G |
15: 95,870,451 (GRCm39) |
K869E |
possibly damaging |
Het |
| Aplp2 |
G |
A |
9: 31,088,400 (GRCm39) |
A106V |
probably damaging |
Het |
| Arhgdib |
T |
A |
6: 136,906,612 (GRCm39) |
K30* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,650,638 (GRCm39) |
T83A |
possibly damaging |
Het |
| Card9 |
T |
C |
2: 26,249,546 (GRCm39) |
E5G |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,123,194 (GRCm39) |
V474A |
probably damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,904,601 (GRCm39) |
F89L |
probably benign |
Het |
| Celf2 |
T |
A |
2: 6,889,769 (GRCm39) |
M1L |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,451,205 (GRCm39) |
D2174G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cox6b2 |
A |
G |
7: 4,754,937 (GRCm39) |
F74S |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,279,543 (GRCm39) |
I107T |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,326,782 (GRCm39) |
Y1997F |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,189,649 (GRCm39) |
L620P |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,364,460 (GRCm39) |
I683N |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,639 (GRCm39) |
S202P |
probably damaging |
Het |
| Ifi208 |
C |
A |
1: 173,505,476 (GRCm39) |
D75E |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,680 (GRCm39) |
N132S |
possibly damaging |
Het |
| Katnal2 |
A |
G |
18: 77,099,763 (GRCm39) |
C124R |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,867,270 (GRCm39) |
L791Q |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,141,445 (GRCm39) |
D418V |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,906,089 (GRCm39) |
V618A |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,927,154 (GRCm39) |
V1179E |
possibly damaging |
Het |
| Lpp |
A |
G |
16: 24,663,874 (GRCm39) |
I259V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 130,986,087 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
T |
C |
2: 60,065,265 (GRCm39) |
S514P |
probably benign |
Het |
| Nr4a2 |
T |
A |
2: 56,999,104 (GRCm39) |
L381F |
probably damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,660,115 (GRCm39) |
D328G |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,568,445 (GRCm39) |
K144E |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,746,845 (GRCm39) |
M735K |
possibly damaging |
Het |
| Olfml2b |
G |
A |
1: 170,509,346 (GRCm39) |
V565M |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,255,819 (GRCm39) |
V108A |
probably damaging |
Het |
| Orc3 |
G |
A |
4: 34,575,114 (GRCm39) |
A590V |
possibly damaging |
Het |
| Picalm |
T |
C |
7: 89,809,757 (GRCm39) |
S78P |
possibly damaging |
Het |
| Por |
T |
A |
5: 135,758,339 (GRCm39) |
Y105* |
probably null |
Het |
| Ppara |
A |
G |
15: 85,682,180 (GRCm39) |
K292R |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,577,380 (GRCm39) |
F3S |
probably damaging |
Het |
| Prss59 |
T |
G |
6: 40,903,096 (GRCm39) |
Y92S |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,558 (GRCm39) |
I844N |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,027,441 (GRCm39) |
Y519H |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,332,060 (GRCm39) |
V1261A |
probably benign |
Het |
| Slc2a2 |
T |
A |
3: 28,767,811 (GRCm39) |
|
probably null |
Het |
| Slc5a7 |
T |
C |
17: 54,600,006 (GRCm39) |
M136V |
probably benign |
Het |
| Smc4 |
C |
A |
3: 68,941,441 (GRCm39) |
A1232E |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,802,287 (GRCm39) |
C270* |
probably null |
Het |
| Sparcl1 |
C |
T |
5: 104,240,690 (GRCm39) |
E245K |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,879,850 (GRCm39) |
H1162R |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,851,010 (GRCm39) |
D105G |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,814,958 (GRCm39) |
|
probably null |
Het |
| Triobp |
G |
A |
15: 78,850,679 (GRCm39) |
A278T |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,642,003 (GRCm39) |
C151W |
probably damaging |
Het |
| Upk1b |
T |
G |
16: 38,600,402 (GRCm39) |
M193L |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,968,949 (GRCm39) |
M334T |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,645,631 (GRCm39) |
S541P |
probably benign |
Het |
| Vmn1r61 |
A |
T |
7: 5,614,302 (GRCm39) |
L4* |
probably null |
Het |
| Vmn2r96 |
G |
A |
17: 18,802,915 (GRCm39) |
G83D |
possibly damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,110 (GRCm39) |
D387G |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,365,656 (GRCm39) |
N250K |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,811,043 (GRCm39) |
V667A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTACATTCAACGCAGAGAGGAC -3'
(R):5'- TCAGGGTATGGGGCCTACAGTAAAG -3'
Sequencing Primer
(F):5'- TGAGGACCCTCCTTCCCAG -3'
(R):5'- CCTACAGTAAAGATGGTGTCCTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation