Incidental Mutation 'R6788:Gmip'
ID 532498
Institutional Source Beutler Lab
Gene Symbol Gmip
Ensembl Gene ENSMUSG00000036246
Gene Name Gem-interacting protein
Synonyms 5031419I10Rik
MMRRC Submission 044902-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R6788 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70261329-70274520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70263824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 89 (L89F)
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: L89F

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: L89F

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: L89F

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: L89F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.4%
Validation Efficiency 97% (68/70)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,580,199 (GRCm39) V2001E probably benign Het
Ahsg A G 16: 22,713,585 (GRCm39) D122G probably benign Het
Ank3 A G 10: 69,840,553 (GRCm39) Y1616C probably damaging Het
Arhgef1 A G 7: 24,619,205 (GRCm39) probably null Het
Atp7b T C 8: 22,494,391 (GRCm39) I1023V probably benign Het
Bod1l A T 5: 41,979,216 (GRCm39) Y699* probably null Het
Car12 C T 9: 66,659,244 (GRCm39) S183L probably damaging Het
Cep290 T C 10: 100,324,490 (GRCm39) S57P probably damaging Het
Cep57l1 T C 10: 41,619,145 (GRCm39) D74G probably damaging Het
Cers6 T C 2: 68,938,903 (GRCm39) Y374H possibly damaging Het
Chmp4c T A 3: 10,432,195 (GRCm39) M35K possibly damaging Het
Crkl G A 16: 17,301,645 (GRCm39) D300N probably damaging Het
Cyp3a41a A G 5: 145,642,639 (GRCm39) M240T probably benign Het
Dipk2a C T 9: 94,406,502 (GRCm39) V302I probably benign Het
Dnah12 G T 14: 26,523,470 (GRCm39) L1986F probably damaging Het
Dnah8 T C 17: 30,867,439 (GRCm39) I297T probably benign Het
Dock10 T A 1: 80,508,962 (GRCm39) I1610F probably damaging Het
Dpys T A 15: 39,720,559 (GRCm39) H67L probably damaging Het
Epc2 T G 2: 49,422,099 (GRCm39) V331G probably benign Het
Fnbp1l G A 3: 122,339,956 (GRCm39) R344* probably null Het
Gpi1 A G 7: 33,928,415 (GRCm39) S74P probably damaging Het
Gys1 G A 7: 45,094,102 (GRCm39) E406K probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Klhl29 C T 12: 5,134,393 (GRCm39) V673M probably damaging Het
Lnpk T C 2: 74,360,020 (GRCm39) T332A probably benign Het
Loxl4 T C 19: 42,596,792 (GRCm39) D60G probably damaging Het
Lrr1 T C 12: 69,221,449 (GRCm39) I197T probably damaging Het
Map1lc3b A G 8: 122,320,316 (GRCm39) N43S probably benign Het
Map3k21 A T 8: 126,666,605 (GRCm39) D599V probably benign Het
Mastl T C 2: 23,023,710 (GRCm39) N338D probably benign Het
Mepe A T 5: 104,486,074 (GRCm39) R405* probably null Het
Mrps30 T C 13: 118,516,908 (GRCm39) E437G probably benign Het
Mup15 A G 4: 61,356,465 (GRCm39) V100A possibly damaging Het
Olfml1 A T 7: 107,167,075 (GRCm39) I35F probably damaging Het
Olfml2a T A 2: 38,850,238 (GRCm39) Y651* probably null Het
Or2h1b T A 17: 37,462,713 (GRCm39) D50V probably damaging Het
Otog T C 7: 45,947,741 (GRCm39) V113A probably damaging Het
Parvg C T 15: 84,210,464 (GRCm39) L44F possibly damaging Het
Pcnx2 G T 8: 126,498,839 (GRCm39) D1553E probably damaging Het
Pcyt2 C T 11: 120,505,200 (GRCm39) G122S probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Polq C T 16: 36,897,510 (GRCm39) T2134I probably damaging Het
Prkce T G 17: 86,937,489 (GRCm39) F641V probably damaging Het
Prss1 T C 6: 41,440,654 (GRCm39) I243T possibly damaging Het
Pxmp2 A G 5: 110,429,185 (GRCm39) F91L probably benign Het
Ralgapb G A 2: 158,278,486 (GRCm39) G5R probably damaging Het
Rasgef1a T G 6: 118,064,174 (GRCm39) M337R possibly damaging Het
Rassf2 A G 2: 131,844,845 (GRCm39) M199T probably damaging Het
Rtbdn A T 8: 85,679,303 (GRCm39) Y67F probably null Het
Scamp3 T C 3: 89,089,256 (GRCm39) V271A probably benign Het
Sema3a A T 5: 13,647,584 (GRCm39) R613W possibly damaging Het
Slc4a3 A T 1: 75,527,959 (GRCm39) I206F probably damaging Het
Slc9b1 A G 3: 135,063,518 (GRCm39) probably null Het
Smchd1 C A 17: 71,782,096 (GRCm39) V22F probably benign Het
Smg1 A G 7: 117,783,794 (GRCm39) probably benign Het
Spaca7b T C 8: 11,728,584 (GRCm39) E29G possibly damaging Het
Spata31e4 A C 13: 50,857,131 (GRCm39) H923P probably damaging Het
Stab1 A G 14: 30,861,117 (GRCm39) L89P probably damaging Het
Stim1 A G 7: 102,076,498 (GRCm39) E152G probably damaging Het
Tenm3 A G 8: 49,127,528 (GRCm39) F50S probably damaging Het
Tpgs2 T G 18: 25,262,927 (GRCm39) N231H probably benign Het
Trank1 T A 9: 111,219,747 (GRCm39) N2161K probably damaging Het
Trim28 A G 7: 12,759,273 (GRCm39) D129G probably benign Het
Trim66 A T 7: 109,076,961 (GRCm39) I326N probably damaging Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Uggt1 T A 1: 36,269,769 (GRCm39) T83S probably benign Het
Wdr91 A G 6: 34,863,754 (GRCm39) I587T probably damaging Het
Zpld1 A T 16: 55,052,603 (GRCm39) V337D possibly 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
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
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'- GGATCCACGCCCTATCCTAAAG -3'
(R):5'- AGCAAACTCGAGCTCTAGGAGG -3'

Sequencing Primer
(F):5'- AGGATTCCCCAGTCTTAGTAGAG -3'
(R):5'- CTCGAGCTCTAGGAGGAGGAG -3'
Posted On 2018-08-29