Incidental Mutation 'R8758:Gimd1'
ID 671728
Institutional Source Beutler Lab
Gene Symbol Gimd1
Ensembl Gene ENSMUSG00000091721
Gene Name GIMAP family P-loop NTPase domain containing 1
Synonyms Gm5549
MMRRC Submission 068598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 132335581-132351112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132340799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 105 (L105H)
Ref Sequence ENSEMBL: ENSMUSP00000142630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163241] [ENSMUST00000196701] [ENSMUST00000212594] [ENSMUST00000212804] [ENSMUST00000212852]
AlphaFold E9PW74
Predicted Effect probably damaging
Transcript: ENSMUST00000163241
AA Change: L105H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126832
Gene: ENSMUSG00000091721
AA Change: L105H

DomainStartEndE-ValueType
Pfam:AIG1 9 215 5.2e-30 PFAM
Pfam:MMR_HSR1 10 210 1.5e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196701
AA Change: L105H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142630
Gene: ENSMUSG00000091721
AA Change: L105H

DomainStartEndE-ValueType
Pfam:AIG1 9 215 6.4e-30 PFAM
Pfam:MMR_HSR1 10 210 5e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212594
AA Change: L105H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212804
AA Change: L105H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212852
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik G A 4: 39,450,811 (GRCm39) D6N probably benign Het
AC157566.4 T C 15: 76,418,382 (GRCm39) I42M probably benign Het
Amer2 C T 14: 60,616,326 (GRCm39) R174C probably damaging Het
Arl8a A T 1: 135,082,189 (GRCm39) D139V possibly damaging Het
Csmd3 A G 15: 47,469,593 (GRCm39) Y2525H Het
Cwc22 T C 2: 77,747,441 (GRCm39) E424G possibly damaging Het
D930048N14Rik A G 11: 51,544,568 (GRCm39) T80A unknown Het
Ddx25 T A 9: 35,453,300 (GRCm39) E483D probably benign Het
Dock4 A T 12: 40,838,231 (GRCm39) E1057D probably benign Het
Dock7 C T 4: 98,949,555 (GRCm39) R429Q Het
Dzip3 T C 16: 48,798,300 (GRCm39) Y135C probably damaging Het
Evi5l G T 8: 4,255,860 (GRCm39) A618S probably benign Het
Fibp A G 19: 5,514,970 (GRCm39) D348G possibly damaging Het
Glra1 T A 11: 55,418,191 (GRCm39) I268F possibly damaging Het
Gm30191 A G 4: 133,977,099 (GRCm39) T104A probably benign Het
Gm49359 A T 13: 62,602,150 (GRCm39) I350K possibly damaging Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
Igkv4-74 AG A 6: 69,162,311 (GRCm39) probably null Het
Ikzf1 A G 11: 11,711,359 (GRCm39) S198G probably benign Het
Kcna4 T A 2: 107,126,494 (GRCm39) D409E probably damaging Het
Lipt2 GGCGCCCGCGCGCG GGCG 7: 99,808,888 (GRCm39) probably null Het
Mgam T A 6: 40,705,977 (GRCm39) D15E probably benign Het
Mmrn1 A G 6: 60,964,193 (GRCm39) D1065G possibly damaging Het
Plxnc1 A C 10: 94,758,607 (GRCm39) V363G possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Psg21 T C 7: 18,384,678 (GRCm39) Y356C probably damaging Het
Ranbp1 T C 16: 18,059,659 (GRCm39) D130G probably damaging Het
Rb1cc1 A T 1: 6,310,451 (GRCm39) Q283L probably benign Het
Rph3a A T 5: 121,097,365 (GRCm39) H250Q probably benign Het
Secisbp2 G A 13: 51,833,869 (GRCm39) V670I possibly damaging Het
Skil C T 3: 31,172,686 (GRCm39) A605V probably damaging Het
Slc28a3 T C 13: 58,720,424 (GRCm39) T312A probably benign Het
Ssh2 T A 11: 77,344,843 (GRCm39) C943S probably benign Het
Tgfbi C T 13: 56,779,894 (GRCm39) A481V probably damaging Het
Tgfbr3 G A 5: 107,297,750 (GRCm39) P217S probably damaging Het
Tmem135 A T 7: 88,954,721 (GRCm39) W99R probably benign Het
Tmx1 A G 12: 70,502,788 (GRCm39) Y52C possibly damaging Het
Ube3b A T 5: 114,553,261 (GRCm39) probably benign Het
Vmn2r57 G T 7: 41,078,163 (GRCm39) N98K probably damaging Het
Vwa3b A G 1: 37,176,873 (GRCm39) D40G Het
Zfyve26 A G 12: 79,311,083 (GRCm39) probably benign 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
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'- CAGGCTCCGTAACCAAAGAGTG -3'
(R):5'- CTACTGCTATATGGCTAGCACC -3'

Sequencing Primer
(F):5'- CGTAACCAAAGAGTGCAGCCTG -3'
(R):5'- CTGCTATATGGCTAGCACCTTATAG -3'
Posted On 2021-04-30