Incidental Mutation 'R6775:Gmip'
ID 532331
Institutional Source Beutler Lab
Gene Symbol Gmip
Ensembl Gene ENSMUSG00000036246
Gene Name Gem-interacting protein
Synonyms 5031419I10Rik
MMRRC Submission 044891-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R6775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 70261329-70274520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70268285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 423 (D423G)
Ref Sequence ENSEMBL: ENSMUSP00000116542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036074] [ENSMUST00000123453]
AlphaFold Q6PGG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000036074
AA Change: D423G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246
AA Change: D423G

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: D423G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246
AA Change: D423G

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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,450,160 (GRCm39) V289M probably damaging Het
Atp10b A G 11: 43,113,040 (GRCm39) D862G possibly damaging Het
Ccn6 T C 10: 39,027,351 (GRCm39) T294A probably damaging Het
Colec10 A G 15: 54,298,419 (GRCm39) E60G possibly damaging Het
Cpne1 A G 2: 155,920,340 (GRCm39) V179A probably damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Ints15 C A 5: 143,297,493 (GRCm39) V185L probably benign Het
Klk1b24 A G 7: 43,840,889 (GRCm39) M106V probably benign Het
Or14c39 A G 7: 86,344,357 (GRCm39) E231G probably benign Het
Or7g30 A T 9: 19,352,718 (GRCm39) T170S possibly damaging Het
Or8k40 G A 2: 86,584,921 (GRCm39) R54C probably damaging Het
Orc1 T A 4: 108,460,652 (GRCm39) F496I probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phf11b A T 14: 59,576,094 (GRCm39) N47K probably benign Het
Plscr4 G A 9: 92,364,858 (GRCm39) M94I probably benign Het
Ppip5k2 A T 1: 97,647,585 (GRCm39) V1047E possibly damaging Het
Scn3a A G 2: 65,352,159 (GRCm39) Y384H possibly damaging Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Smc1b T C 15: 84,973,881 (GRCm39) E925G probably damaging Het
Sorl1 A G 9: 42,003,748 (GRCm39) Y183H possibly damaging Het
Tarbp1 A C 8: 127,163,568 (GRCm39) D1151E probably benign Het
Vmn2r3 T C 3: 64,183,039 (GRCm39) H220R possibly damaging Het
Wdr5 A G 2: 27,423,386 (GRCm39) Y260C 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGTTTTCGGGGCCTCTACC -3'
(R):5'- CAGTGAGTACATCTACACTTGAGG -3'

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