Incidental Mutation 'IGL03328:Gmip'
ID 416761
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 # IGL03328
Quality Score
Status
Chromosome 8
Chromosomal Location 70261329-70274520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70264261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 174 (V174M)
Ref Sequence ENSEMBL: ENSMUSP00000116542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034326] [ENSMUST00000036074] [ENSMUST00000123453]
AlphaFold Q6PGG2
Predicted Effect probably benign
Transcript: ENSMUST00000034326
SMART Domains Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862

DomainStartEndE-ValueType
low complexity region 54 62 N/A INTRINSIC
transmembrane domain 64 86 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Pfam:E1-E2_ATPase 264 515 3.2e-24 PFAM
Pfam:Hydrolase 524 781 2.2e-11 PFAM
Pfam:HAD 527 870 2.7e-27 PFAM
low complexity region 883 894 N/A INTRINSIC
transmembrane domain 1045 1067 N/A INTRINSIC
transmembrane domain 1093 1115 N/A INTRINSIC
transmembrane domain 1130 1147 N/A INTRINSIC
low complexity region 1173 1184 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000036074
AA Change: V174M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: V174M

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 possibly damaging
Transcript: ENSMUST00000123453
AA Change: V174M

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: V174M

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: ENSMUST00000138269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156620
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably damaging Het
Other mutations in Gmip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02