Incidental Mutation 'IGL00790:Gmip'
ID 11044
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? Possibly non essential (E-score: 0.253) question?
Stock # IGL00790
Quality Score
Status
Chromosome 8
Chromosomal Location 70261329-70274520 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 70269661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 585 (Y585*)
Ref Sequence ENSEMBL: ENSMUSP00000116542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036074] [ENSMUST00000123453]
AlphaFold Q6PGG2
Predicted Effect probably null
Transcript: ENSMUST00000036074
AA Change: Y585*
SMART Domains Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: Y585*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000123453
AA Change: Y585*
SMART Domains Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: Y585*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000154903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144540
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,291,175 (GRCm39) N1419K probably benign Het
Arhgef18 A G 8: 3,479,553 (GRCm39) E79G probably damaging Het
Art4 T A 6: 136,831,493 (GRCm39) Q216L probably damaging Het
Bbs4 T C 9: 59,231,348 (GRCm39) D407G probably benign Het
Cherp A G 8: 73,222,090 (GRCm39) I277T probably damaging Het
Cnot2 A G 10: 116,342,976 (GRCm39) M119T probably benign Het
Disp2 T A 2: 118,616,759 (GRCm39) C73S probably damaging Het
Dock4 T C 12: 40,884,390 (GRCm39) S1686P probably damaging Het
Dsc1 C T 18: 20,227,953 (GRCm39) G468S probably damaging Het
Duox2 T A 2: 122,122,781 (GRCm39) D551V possibly damaging Het
Gnal A G 18: 67,267,360 (GRCm39) probably null Het
Idh1 T G 1: 65,205,281 (GRCm39) Q228P possibly damaging Het
Igsf10 A T 3: 59,226,938 (GRCm39) I2245N probably damaging Het
Mrgpra4 A T 7: 47,631,052 (GRCm39) M183K possibly damaging Het
Npr2 T A 4: 43,641,612 (GRCm39) V472D possibly damaging Het
Pcdh7 A T 5: 57,878,806 (GRCm39) N787I probably damaging Het
Phf8-ps A G 17: 33,286,361 (GRCm39) V147A probably damaging Het
Ppp1r10 A T 17: 36,235,751 (GRCm39) N111I probably damaging Het
Ppp3ca A G 3: 136,640,942 (GRCm39) N508D probably benign Het
Rgs17 A G 10: 5,862,624 (GRCm38) Q25P possibly damaging Het
Slco6d1 T A 1: 98,348,925 (GRCm39) probably benign Het
Tab3 T A X: 84,665,210 (GRCm39) N591K probably damaging Het
Tfcp2 T C 15: 100,411,059 (GRCm39) probably benign Het
Them5 A T 3: 94,250,716 (GRCm39) D93V probably damaging Het
Thoc5 T G 11: 4,868,147 (GRCm39) V275G probably damaging Het
Trmt1l T C 1: 151,318,463 (GRCm39) probably null Het
Zdbf2 G T 1: 63,345,673 (GRCm39) V1351F possibly damaging Het
Zfp14 G T 7: 29,738,312 (GRCm39) Y224* probably null Het
Zfp606 T G 7: 12,228,159 (GRCm39) M702R probably damaging Het
Other mutations in Gmip
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06