Incidental Mutation 'R4249:Gimd1'
ID 320520
Institutional Source Beutler Lab
Gene Symbol Gimd1
Ensembl Gene ENSMUSG00000091721
Gene Name GIMAP family P-loop NTPase domain containing 1
Synonyms Gm5549
MMRRC Submission 041065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4249 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 132335581-132351112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132350169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 144 (V144A)
Ref Sequence ENSEMBL: ENSMUSP00000148832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163241] [ENSMUST00000196701] [ENSMUST00000212594] [ENSMUST00000212804] [ENSMUST00000212852]
AlphaFold E9PW74
Predicted Effect possibly damaging
Transcript: ENSMUST00000163241
AA Change: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126832
Gene: ENSMUSG00000091721
AA Change: V144A

DomainStartEndE-ValueType
Pfam:AIG1 9 215 5.2e-30 PFAM
Pfam:MMR_HSR1 10 210 1.5e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196701
AA Change: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142630
Gene: ENSMUSG00000091721
AA Change: V144A

DomainStartEndE-ValueType
Pfam:AIG1 9 215 6.4e-30 PFAM
Pfam:MMR_HSR1 10 210 5e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212594
AA Change: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212804
AA Change: V144A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212852
AA Change: V26A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ankrd39 A G 1: 36,586,236 (GRCm39) S11P probably benign Het
Aox1 A G 1: 58,338,978 (GRCm39) S324G probably benign Het
Atl3 T C 19: 7,509,703 (GRCm39) V477A probably benign Het
Bcar1 T C 8: 112,447,525 (GRCm39) T151A probably benign Het
Cdc42bpg A G 19: 6,365,296 (GRCm39) T718A possibly damaging Het
Col9a1 C T 1: 24,283,462 (GRCm39) R843C probably damaging Het
Dnah12 T A 14: 26,430,341 (GRCm39) D316E possibly damaging Het
Fat2 A G 11: 55,175,127 (GRCm39) V1862A probably damaging Het
Fbxw5 C A 2: 25,393,472 (GRCm39) N233K probably damaging Het
Fcer2a A G 8: 3,738,831 (GRCm39) F75L probably benign Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Glt1d1 T C 5: 127,768,176 (GRCm39) probably null Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Kansl1l C T 1: 66,812,637 (GRCm39) D459N probably damaging Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Muc4 T C 16: 32,576,200 (GRCm39) probably benign Het
Myom1 T A 17: 71,399,135 (GRCm39) V999E probably damaging Het
Nckap5 A G 1: 125,955,376 (GRCm39) L460P probably benign Het
Or12d17 T C 17: 37,777,715 (GRCm39) M206T probably damaging Het
Phf13 A T 4: 152,076,552 (GRCm39) N213K probably damaging Het
Phldb3 T C 7: 24,326,745 (GRCm39) I591T probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Plekhh2 A G 17: 84,893,765 (GRCm39) E860G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Rest A G 5: 77,429,959 (GRCm39) T793A probably benign Het
Ropn1 C T 16: 34,498,826 (GRCm39) Q205* probably null Het
Sacs A C 14: 61,440,906 (GRCm39) K984T probably benign Het
Samd11 G A 4: 156,334,943 (GRCm39) R102C probably damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Shank1 C A 7: 43,969,160 (GRCm39) H352N unknown Het
Slc22a27 A T 19: 7,903,244 (GRCm39) I162K possibly damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Tln1 A T 4: 43,536,104 (GRCm39) V2027E probably damaging Het
Trdn A G 10: 33,326,994 (GRCm39) I594M probably benign Het
Trim5 C G 7: 103,926,022 (GRCm39) E180Q possibly damaging Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tubb1 A T 2: 174,297,526 (GRCm39) E45V probably null Het
Vmn2r67 T A 7: 84,799,722 (GRCm39) probably null Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign Het
Zfp160 T A 17: 21,246,000 (GRCm39) F183L probably benign Het
Other mutations in Gimd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0400:Gimd1 UTSW 3 132,340,588 (GRCm39) missense probably benign
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
R9096:Gimd1 UTSW 3 132,340,661 (GRCm39) missense probably benign 0.13
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'- TCAGAAATATCATGACACATGGGTC -3'
(R):5'- GACCCTGATTAATACCTGGAGCTC -3'

Sequencing Primer
(F):5'- ACACATGGGTCTGTTGGCTAAC -3'
(R):5'- TGATTAATACCTGGAGCTCTCTTC -3'
Posted On 2015-06-12