Incidental Mutation 'R7718:Gmip'
ID |
595047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gmip
|
Ensembl Gene |
ENSMUSG00000036246 |
Gene Name |
Gem-interacting protein |
Synonyms |
5031419I10Rik |
MMRRC Submission |
045775-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R7718 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70261329-70274520 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70270383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 698
(R698W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034325]
[ENSMUST00000036074]
[ENSMUST00000123453]
[ENSMUST00000164890]
|
AlphaFold |
Q6PGG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034325
|
SMART Domains |
Protein: ENSMUSP00000034325 Gene: ENSMUSG00000031861
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
40 |
307 |
8.1e-10 |
PFAM |
Pfam:7tm_1
|
46 |
292 |
5.1e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036074
AA Change: R698W
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045676 Gene: ENSMUSG00000036246 AA Change: R698W
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: R698W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116542 Gene: ENSMUSG00000036246 AA Change: R698W
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 |
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 |
probably benign
Transcript: ENSMUST00000164890
|
SMART Domains |
Protein: ENSMUSP00000128261 Gene: ENSMUSG00000031861
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
40 |
307 |
8.1e-10 |
PFAM |
Pfam:7tm_1
|
46 |
292 |
1.1e-32 |
PFAM |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (77/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
T |
5: 138,646,122 (GRCm39) |
H669L |
possibly damaging |
Het |
Abcb1a |
A |
T |
5: 8,765,788 (GRCm39) |
N700I |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,626,816 (GRCm39) |
K1414E |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,100,785 (GRCm39) |
V779A |
probably benign |
Het |
Agap2 |
A |
G |
10: 126,915,734 (GRCm39) |
S82G |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,305 (GRCm39) |
N864S |
probably damaging |
Het |
Ang2 |
A |
T |
14: 51,433,217 (GRCm39) |
V55E |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,758,662 (GRCm39) |
M179T |
possibly damaging |
Het |
Atrnl1 |
T |
A |
19: 57,728,615 (GRCm39) |
C1090* |
probably null |
Het |
Atxn1l |
A |
G |
8: 110,459,866 (GRCm39) |
L132P |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,972,282 (GRCm39) |
V862A |
possibly damaging |
Het |
Capn11 |
C |
A |
17: 45,954,707 (GRCm39) |
K143N |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,129,269 (GRCm39) |
V709A |
possibly damaging |
Het |
Cavin4 |
C |
T |
4: 48,671,984 (GRCm39) |
A143V |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,984,133 (GRCm39) |
I160T |
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,755,782 (GRCm39) |
N511Y |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,174,835 (GRCm39) |
I480N |
probably damaging |
Het |
Elf2 |
G |
T |
3: 51,173,385 (GRCm39) |
|
probably benign |
Het |
Enoph1 |
T |
C |
5: 100,210,019 (GRCm39) |
V133A |
possibly damaging |
Het |
Ezh2 |
A |
T |
6: 47,531,125 (GRCm39) |
D186E |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,626 (GRCm39) |
F1106S |
probably damaging |
Het |
Gfra1 |
T |
C |
19: 58,441,889 (GRCm39) |
D14G |
possibly damaging |
Het |
Grk4 |
A |
G |
5: 34,852,160 (GRCm39) |
N135D |
probably benign |
Het |
Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
Htatip2 |
T |
G |
7: 49,420,632 (GRCm39) |
H159Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,774 (GRCm39) |
E1264G |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,352,539 (GRCm39) |
S194P |
probably benign |
Het |
Katnb1 |
T |
A |
8: 95,821,836 (GRCm39) |
V223E |
possibly damaging |
Het |
Klra6 |
AGG |
AG |
6: 129,990,315 (GRCm39) |
|
probably null |
Het |
Masp2 |
C |
T |
4: 148,687,204 (GRCm39) |
R29C |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,887,498 (GRCm39) |
C123* |
probably null |
Het |
Mdn1 |
T |
C |
4: 32,718,420 (GRCm39) |
V2225A |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,561,953 (GRCm39) |
L44S |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,583,577 (GRCm39) |
N380S |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,933,728 (GRCm39) |
T153A |
unknown |
Het |
Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
Myocd |
A |
T |
11: 65,109,452 (GRCm39) |
D106E |
probably damaging |
Het |
Oat |
T |
C |
7: 132,159,988 (GRCm39) |
I411V |
probably benign |
Het |
Or2d2 |
A |
T |
7: 106,727,925 (GRCm39) |
V225D |
probably damaging |
Het |
Or5p59 |
T |
C |
7: 107,702,855 (GRCm39) |
V113A |
probably benign |
Het |
Or8k38 |
A |
G |
2: 86,488,373 (GRCm39) |
V143A |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,519,476 (GRCm39) |
H246Q |
possibly damaging |
Het |
Pank4 |
A |
G |
4: 155,059,100 (GRCm39) |
E411G |
probably damaging |
Het |
Patl2 |
A |
T |
2: 121,957,255 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
A |
G |
18: 37,608,216 (GRCm39) |
N483D |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,704 (GRCm39) |
D410G |
probably damaging |
Het |
Pdcl2 |
A |
G |
5: 76,465,846 (GRCm39) |
C125R |
probably damaging |
Het |
Peli3 |
C |
G |
19: 4,984,584 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,805,474 (GRCm39) |
D3313G |
probably benign |
Het |
Plec |
A |
C |
15: 76,061,639 (GRCm39) |
M2766R |
probably damaging |
Het |
Ppargc1a |
C |
T |
5: 51,655,504 (GRCm39) |
V99M |
probably damaging |
Het |
Prr35 |
T |
A |
17: 26,165,998 (GRCm39) |
R430* |
probably null |
Het |
Psg19 |
G |
A |
7: 18,526,368 (GRCm39) |
A374V |
probably benign |
Het |
Psmd7 |
A |
T |
8: 108,313,261 (GRCm39) |
F54L |
possibly damaging |
Het |
Ptbp2 |
C |
T |
3: 119,514,637 (GRCm39) |
G397R |
probably null |
Het |
Ranbp3 |
A |
G |
17: 57,003,718 (GRCm39) |
D39G |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,786,021 (GRCm39) |
T406A |
probably benign |
Het |
Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
Rpia |
A |
T |
6: 70,743,602 (GRCm39) |
M283K |
probably damaging |
Het |
Rps6kc1 |
T |
C |
1: 190,604,022 (GRCm39) |
D200G |
probably benign |
Het |
Sipa1l1 |
A |
T |
12: 82,389,271 (GRCm39) |
K499M |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,906,407 (GRCm39) |
L404P |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spmip4 |
G |
A |
6: 50,566,078 (GRCm39) |
|
probably null |
Het |
St7 |
A |
C |
6: 17,854,998 (GRCm39) |
T312P |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,515,294 (GRCm39) |
E244G |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,416,061 (GRCm39) |
T871P |
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,141,049 (GRCm39) |
I286N |
probably damaging |
Het |
Tead3 |
C |
A |
17: 28,552,491 (GRCm39) |
V327F |
probably damaging |
Het |
Tmem132c |
A |
T |
5: 127,640,504 (GRCm39) |
T892S |
probably benign |
Het |
Trmt2a |
T |
C |
16: 18,068,487 (GRCm39) |
S65P |
probably benign |
Het |
Ubp1 |
A |
G |
9: 113,802,597 (GRCm39) |
N479S |
possibly damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,527 (GRCm39) |
L18F |
possibly damaging |
Het |
Uevld |
T |
G |
7: 46,587,804 (GRCm39) |
M299L |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,173,854 (GRCm39) |
Y1561N |
unknown |
Het |
Ylpm1 |
A |
G |
12: 85,075,896 (GRCm39) |
K874E |
probably damaging |
Het |
Zbtb37 |
G |
A |
1: 160,859,802 (GRCm39) |
R168W |
possibly 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 |
|
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 |
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 |
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'- ACACCTAACTTTAACACTGTCCATG -3'
(R):5'- CTGGATTCAAGGCATGCAGG -3'
Sequencing Primer
(F):5'- CATGTAACTAGCTGGTTTCAAGCCG -3'
(R):5'- CCATTCCAAAGATCTGCTCATAGTG -3'
|
Posted On |
2019-11-12 |