Incidental Mutation 'R1255:Gimap1'
ID 151415
Institutional Source Beutler Lab
Gene Symbol Gimap1
Ensembl Gene ENSMUSG00000090019
Gene Name GTPase, IMAP family member 1
Synonyms 38kDa, Imap38, IAP38, imap
MMRRC Submission 039322-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1255 (G1)
Quality Score 171
Status Not validated
Chromosome 6
Chromosomal Location 48715988-48720729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48719940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 184 (V184E)
Ref Sequence ENSEMBL: ENSMUSP00000145479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054368] [ENSMUST00000055558] [ENSMUST00000127537] [ENSMUST00000140054] [ENSMUST00000204168] [ENSMUST00000204408]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000054368
AA Change: V184E

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062108
Gene: ENSMUSG00000090019
AA Change: V184E

DomainStartEndE-ValueType
Pfam:AIG1 27 239 3.8e-81 PFAM
transmembrane domain 274 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055558
SMART Domains Protein: ENSMUSP00000056820
Gene: ENSMUSG00000043505

DomainStartEndE-ValueType
Pfam:AIG1 27 240 5.4e-80 PFAM
Pfam:MMR_HSR1 28 151 9.5e-8 PFAM
transmembrane domain 283 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135174
Predicted Effect probably benign
Transcript: ENSMUST00000140054
SMART Domains Protein: ENSMUSP00000118345
Gene: ENSMUSG00000090019

DomainStartEndE-ValueType
Pfam:AIG1 27 74 1.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147047
Predicted Effect probably benign
Transcript: ENSMUST00000204168
AA Change: V184E

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145479
Gene: ENSMUSG00000090019
AA Change: V184E

DomainStartEndE-ValueType
Pfam:AIG1 27 239 3.8e-81 PFAM
transmembrane domain 274 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203006
Predicted Effect probably benign
Transcript: ENSMUST00000204408
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. Sequence analysis identified two alternatively spliced variants that encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have defects in the development of mature B and T lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,807,016 (GRCm39) S21C probably damaging Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acsf3 T C 8: 123,512,705 (GRCm39) probably null Het
Aff3 A T 1: 38,243,965 (GRCm39) probably null Het
Antxr2 A T 5: 98,123,231 (GRCm39) I272N probably benign Het
Asphd2 A C 5: 112,539,677 (GRCm39) V52G probably damaging Het
Atxn3 T A 12: 101,900,593 (GRCm39) Q230L probably damaging Het
Bltp3b T C 10: 89,581,132 (GRCm39) I9T probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Ciz1 T A 2: 32,255,888 (GRCm39) probably null Het
Dennd5b A T 6: 148,943,148 (GRCm39) M576K possibly damaging Het
Ebf3 C T 7: 136,826,941 (GRCm39) V315I probably benign Het
Epha5 G T 5: 84,298,254 (GRCm39) A383E probably damaging Het
Epha5 C T 5: 84,298,255 (GRCm39) A383T probably damaging Het
Gtf2f1 A G 17: 57,317,982 (GRCm39) V18A probably damaging Het
Kcnn3 A T 3: 89,559,416 (GRCm39) D562V possibly damaging Het
Kif20b A G 19: 34,927,506 (GRCm39) T883A probably benign Het
Kmt2c A T 5: 25,556,151 (GRCm39) L1198Q probably damaging Het
Nipal2 T C 15: 34,584,828 (GRCm39) I247V probably benign Het
Or5ak22 T A 2: 85,230,647 (GRCm39) I77F probably damaging Het
Rad51ap2 G T 12: 11,508,095 (GRCm39) K672N possibly damaging Het
Rbm28 C T 6: 29,158,246 (GRCm39) G155D probably damaging Het
Sema6a A T 18: 47,382,366 (GRCm39) M701K probably damaging Het
Slc47a1 A T 11: 61,260,974 (GRCm39) L142Q probably damaging Het
Snx25 A T 8: 46,569,275 (GRCm39) N207K probably benign Het
Son T A 16: 91,461,583 (GRCm39) V205E probably damaging Het
Spz1 C A 13: 92,712,138 (GRCm39) V113F probably benign Het
Tcn2 T C 11: 3,872,120 (GRCm39) T336A probably benign Het
Tln1 T C 4: 43,538,044 (GRCm39) D1852G probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zfp729a T C 13: 67,769,965 (GRCm39) E88G probably benign Het
Other mutations in Gimap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Gimap1 APN 6 48,720,258 (GRCm39) missense probably damaging 0.99
Lien UTSW 6 48,720,290 (GRCm39) makesense probably null
vonnegut UTSW 6 48,720,032 (GRCm39) missense probably damaging 1.00
R0555:Gimap1 UTSW 6 48,718,363 (GRCm39) splice site probably benign
R0638:Gimap1 UTSW 6 48,718,359 (GRCm39) splice site probably benign
R4043:Gimap1 UTSW 6 48,720,176 (GRCm39) missense probably damaging 0.99
R5177:Gimap1 UTSW 6 48,720,032 (GRCm39) missense probably damaging 1.00
R6076:Gimap1 UTSW 6 48,719,521 (GRCm39) nonsense probably null
R6372:Gimap1 UTSW 6 48,720,290 (GRCm39) makesense probably null
R9729:Gimap1 UTSW 6 48,719,386 (GRCm39) missense unknown
Z1176:Gimap1 UTSW 6 48,720,290 (GRCm39) makesense probably null
Z1176:Gimap1 UTSW 6 48,720,183 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATATCTTCAGCTCCGAGATCCCGC -3'
(R):5'- AGCCCTTCCAGTAGAATTTCCGCC -3'

Sequencing Primer
(F):5'- TCGCTTCACCATGCAGGAC -3'
(R):5'- AGTAGAATTTCCGCCATCCC -3'
Posted On 2014-01-29