Incidental Mutation 'IGL02529:Gmip'
ID297215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmip
Ensembl Gene ENSMUSG00000036246
Gene NameGem-interacting protein
Synonyms5031419I10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.196) question?
Stock #IGL02529
Quality Score
Status
Chromosome8
Chromosomal Location69808679-69821870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 69816789 bp
ZygosityHeterozygous
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]
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

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 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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,233 H925L probably benign Het
Agpat5 T A 8: 18,881,754 Y297N possibly damaging Het
Apobec3 C T 15: 79,897,687 probably benign Het
Atpaf1 C A 4: 115,791,269 A161E probably damaging Het
Bnc1 A T 7: 81,977,368 D91E probably damaging Het
Capg G A 6: 72,555,846 V98I probably benign Het
Ccdc7b C T 8: 129,178,225 L115F possibly damaging Het
Ces2a T A 8: 104,737,219 probably benign Het
Cldn6 T G 17: 23,681,317 V85G probably damaging Het
Clec2e T C 6: 129,098,496 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhx38 T C 8: 109,559,013 E396G probably benign Het
Dock8 A T 19: 25,100,926 K532* probably null Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Hacd1 T C 2: 14,045,202 H64R probably damaging Het
Hdac3 G T 18: 37,944,132 Q230K probably benign Het
Htt C T 5: 34,819,043 probably benign Het
Il18r1 A G 1: 40,487,059 D255G possibly damaging Het
Krt82 T A 15: 101,550,396 R70* probably null Het
Krt9 G T 11: 100,189,966 H353Q probably damaging Het
Kyat3 T C 3: 142,720,474 I57T probably benign Het
L1td1 A G 4: 98,737,421 K618E probably benign Het
Limch1 C A 5: 67,002,613 N617K possibly damaging Het
Lsm8 T C 6: 18,851,652 F34S probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mmrn2 C A 14: 34,398,613 A480E possibly damaging Het
Mthfd1 A G 12: 76,303,709 I474V probably benign Het
Mycl A G 4: 122,996,977 K152R probably damaging Het
Numa1 A G 7: 101,999,953 probably null Het
Olfr474 G T 7: 107,955,216 V192F possibly damaging Het
Otog A C 7: 46,259,957 D617A probably damaging Het
Ppef2 A G 5: 92,244,737 I267T probably damaging Het
Ptprq A G 10: 107,635,365 Y1392H probably benign Het
Rasgrp3 G T 17: 75,525,102 K639N possibly damaging Het
Rgs19 C T 2: 181,689,150 R203H probably benign Het
Scnn1g C A 7: 121,742,446 probably benign Het
Tmem181b-ps T C 17: 6,466,921 noncoding transcript Het
Vmn2r118 A G 17: 55,610,870 V214A possibly damaging Het
Zfp811 T C 17: 32,797,815 Y417C probably damaging Het
Other mutations in Gmip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Gmip APN 8 69817011 nonsense probably null
IGL03185:Gmip APN 8 69809783 missense probably benign 0.02
IGL03328:Gmip APN 8 69811611 missense possibly damaging 0.79
microdot UTSW 8 69814135 missense probably damaging 1.00
minnox UTSW 8 69817802 missense probably benign 0.02
puncta UTSW 8 69816086 missense possibly damaging 0.50
R0110:Gmip UTSW 8 69815609 unclassified probably benign
R0329:Gmip UTSW 8 69810818 missense probably benign 0.06
R0330:Gmip UTSW 8 69810818 missense probably benign 0.06
R0510:Gmip UTSW 8 69815609 unclassified probably benign
R0638:Gmip UTSW 8 69811445 splice site probably benign
R1692:Gmip UTSW 8 69813903 missense probably benign
R1721:Gmip UTSW 8 69811232 missense probably damaging 0.96
R1755:Gmip UTSW 8 69814124 missense probably damaging 1.00
R1801:Gmip UTSW 8 69814477 missense probably benign
R1894:Gmip UTSW 8 69820972 missense probably damaging 1.00
R1926:Gmip UTSW 8 69815520 missense probably benign 0.41
R2005:Gmip UTSW 8 69814043 missense probably benign
R4280:Gmip UTSW 8 69813601 unclassified probably benign
R4281:Gmip UTSW 8 69813601 unclassified probably benign
R4282:Gmip UTSW 8 69813601 unclassified probably benign
R4283:Gmip UTSW 8 69813601 unclassified probably benign
R5221:Gmip UTSW 8 69814135 missense probably damaging 1.00
R5512:Gmip UTSW 8 69817890 missense probably benign 0.00
R5521:Gmip UTSW 8 69817399 missense probably damaging 1.00
R5763:Gmip UTSW 8 69817851 missense probably damaging 1.00
R6151:Gmip UTSW 8 69817085 missense probably damaging 1.00
R6163:Gmip UTSW 8 69817372 missense probably benign 0.28
R6228:Gmip UTSW 8 69816123 missense probably damaging 1.00
R6775:Gmip UTSW 8 69815635 missense possibly damaging 0.82
R6787:Gmip UTSW 8 69813786 missense probably damaging 1.00
R6788:Gmip UTSW 8 69811174 missense possibly damaging 0.87
R6788:Gmip UTSW 8 69811176 missense probably damaging 1.00
R6852:Gmip UTSW 8 69817991 nonsense probably null
R6934:Gmip UTSW 8 69820926 missense probably benign
R7010:Gmip UTSW 8 69811400 missense probably damaging 1.00
R7122:Gmip UTSW 8 69817802 missense probably benign 0.02
R7254:Gmip UTSW 8 69816468 splice site probably null
R7351:Gmip UTSW 8 69817384 missense probably benign 0.01
R7360:Gmip UTSW 8 69811242 missense probably damaging 1.00
R7412:Gmip UTSW 8 69820499 missense probably benign
R7577:Gmip UTSW 8 69814435 missense probably benign 0.17
R7718:Gmip UTSW 8 69817733 missense probably damaging 0.99
R8018:Gmip UTSW 8 69815493 missense probably benign 0.41
R8080:Gmip UTSW 8 69816086 missense possibly damaging 0.50
X0063:Gmip UTSW 8 69809816 missense probably damaging 1.00
Z1176:Gmip UTSW 8 69816292 missense probably damaging 1.00
Posted On2015-04-16