Incidental Mutation 'R9096:Gimd1'
ID 691341
Institutional Source Beutler Lab
Gene Symbol Gimd1
Ensembl Gene ENSMUSG00000091721
Gene Name GIMAP family P-loop NTPase domain containing 1
Synonyms Gm5549
MMRRC Submission 068911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R9096 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 132335581-132351112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132340661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 59 (M59K)
Ref Sequence ENSEMBL: ENSMUSP00000142630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163241] [ENSMUST00000196701] [ENSMUST00000212594] [ENSMUST00000212804] [ENSMUST00000212852]
AlphaFold E9PW74
Predicted Effect probably benign
Transcript: ENSMUST00000163241
AA Change: M59K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126832
Gene: ENSMUSG00000091721
AA Change: M59K

DomainStartEndE-ValueType
Pfam:AIG1 9 215 5.2e-30 PFAM
Pfam:MMR_HSR1 10 210 1.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196701
AA Change: M59K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142630
Gene: ENSMUSG00000091721
AA Change: M59K

DomainStartEndE-ValueType
Pfam:AIG1 9 215 6.4e-30 PFAM
Pfam:MMR_HSR1 10 210 5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212594
AA Change: M59K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000212804
AA Change: M59K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably null
Transcript: ENSMUST00000212852
AA Change: M1K
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,339,793 (GRCm39) V73E Het
Abhd12b T A 12: 70,210,207 (GRCm39) Y128N probably damaging Het
Arhgap40 A T 2: 158,389,584 (GRCm39) M586L probably benign Het
Armt1 T C 10: 4,384,829 (GRCm39) S15P probably damaging Het
Arnt G T 3: 95,397,588 (GRCm39) S535I probably benign Het
Bmper T C 9: 23,134,988 (GRCm39) S18P possibly damaging Het
Catsperg1 G C 7: 28,884,152 (GRCm39) T987R probably damaging Het
Col9a1 A T 1: 24,224,207 (GRCm39) I130F unknown Het
Dennd1a G T 2: 37,690,077 (GRCm39) L1008I probably damaging Het
Depdc1a T A 3: 159,204,117 (GRCm39) D55E probably benign Het
Dlc1 A T 8: 37,080,721 (GRCm39) I10N probably benign Het
Dnah1 T A 14: 30,983,027 (GRCm39) I4203F probably damaging Het
Dzank1 G T 2: 144,316,882 (GRCm39) L767I possibly damaging Het
Eprs1 C A 1: 185,139,303 (GRCm39) A896E probably benign Het
Fryl T C 5: 73,265,920 (GRCm39) D467G probably benign Het
Gab3 TTC TTCCTC X: 74,043,610 (GRCm39) probably benign Het
Gm3667 T C 14: 18,270,388 (GRCm39) Y139C probably damaging Het
Gng2 T A 14: 19,941,471 (GRCm39) probably null Het
Gpr162 A G 6: 124,836,570 (GRCm39) I367T probably benign Het
Hacd4 A G 4: 88,355,695 (GRCm39) probably null Het
Hmcn1 C T 1: 150,532,869 (GRCm39) V3105M probably benign Het
Iws1 T C 18: 32,216,373 (GRCm39) V371A probably benign Het
Kctd10 C T 5: 114,508,232 (GRCm39) R92Q probably damaging Het
Lepr T C 4: 101,631,418 (GRCm39) F643L possibly damaging Het
Lpgat1 T C 1: 191,451,569 (GRCm39) V65A possibly damaging Het
Lrrk2 C T 15: 91,557,459 (GRCm39) probably benign Het
Magel2 A G 7: 62,030,297 (GRCm39) D1067G unknown Het
Mrc2 A G 11: 105,231,398 (GRCm39) D777G probably damaging Het
Nol10 T A 12: 17,466,199 (GRCm39) D531E probably benign Het
Odf2 T A 2: 29,783,508 (GRCm39) V103D probably damaging Het
Or4f7 T A 2: 111,644,196 (GRCm39) K292* probably null Het
Pcdhb21 A G 18: 37,648,071 (GRCm39) Y400C probably damaging Het
Pkn2 C T 3: 142,515,249 (GRCm39) R695Q probably benign Het
Pld3 A G 7: 27,232,089 (GRCm39) V397A probably benign Het
Ppp1r9a A G 6: 4,906,012 (GRCm39) D189G probably damaging Het
Ppp2r1b A G 9: 50,777,856 (GRCm39) K267R probably benign Het
Prkca A G 11: 107,905,061 (GRCm39) S226P probably benign Het
Ptpru T C 4: 131,499,843 (GRCm39) N1267S probably damaging Het
Pxn T A 5: 115,686,680 (GRCm39) C391S probably benign Het
Rars1 T C 11: 35,718,256 (GRCm39) E136G probably benign Het
Rrp12 A T 19: 41,878,577 (GRCm39) D189E probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Sdc1 T C 12: 8,841,665 (GRCm39) L265P probably damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Tasp1 A T 2: 139,725,690 (GRCm39) probably null Het
Telo2 T C 17: 25,324,066 (GRCm39) T550A probably benign Het
Tmem131l A T 3: 83,850,122 (GRCm39) N225K probably damaging Het
Tmem260 T A 14: 48,757,803 (GRCm39) V706D unknown Het
Tnr T A 1: 159,677,804 (GRCm39) M63K probably benign Het
Ttn A G 2: 76,572,413 (GRCm39) I26160T probably damaging Het
Ubap1 T C 4: 41,379,872 (GRCm39) probably null Het
Ush2a C T 1: 188,198,333 (GRCm39) P1466S probably benign Het
Usp24 T G 4: 106,254,508 (GRCm39) M1495R probably benign Het
Utp20 T C 10: 88,611,180 (GRCm39) N1379S probably damaging Het
Vmn1r16 A T 6: 57,300,250 (GRCm39) I124N probably benign Het
Vmn1r181 A G 7: 23,684,444 (GRCm39) N303S probably benign Het
Vmn1r50 G A 6: 90,085,022 (GRCm39) V256I probably benign Het
Vps54 A G 11: 21,227,913 (GRCm39) N288S possibly damaging Het
Zfp266 A T 9: 20,416,440 (GRCm39) F50Y probably damaging Het
Other mutations in Gimd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0400:Gimd1 UTSW 3 132,340,588 (GRCm39) missense probably benign
R4249:Gimd1 UTSW 3 132,350,169 (GRCm39) missense possibly damaging 0.94
R4658:Gimd1 UTSW 3 132,350,343 (GRCm39) missense probably damaging 1.00
R4710:Gimd1 UTSW 3 132,340,609 (GRCm39) missense possibly damaging 0.95
R4992:Gimd1 UTSW 3 132,340,718 (GRCm39) missense probably benign 0.39
R8758:Gimd1 UTSW 3 132,340,799 (GRCm39) missense probably damaging 1.00
R9097:Gimd1 UTSW 3 132,340,661 (GRCm39) missense probably benign 0.13
Z1177:Gimd1 UTSW 3 132,340,831 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTGCCTCTGTTTACCCATAG -3'
(R):5'- GCGTTAGATGCTTCCTGTCC -3'

Sequencing Primer
(F):5'- CTGTTTACCCATAGCTATGACAGAC -3'
(R):5'- GATGCTTCCTGTCCAAAGAAAG -3'
Posted On 2021-12-30