Incidental Mutation 'N/A:Gimap6'
ID 41
Institutional Source Beutler Lab
Gene Symbol Gimap6
Ensembl Gene ENSMUSG00000047867
Gene Name GTPase, IMAP family member 6
Synonyms 4833419H03Rik, Ian6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # N/A of strain 294
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 48678516-48685159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48679349 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Aspartic acid to Glycine at position 229 (D229G)
Ref Sequence ENSEMBL: ENSMUSP00000059371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053661] [ENSMUST00000119315] [ENSMUST00000126422]
AlphaFold Q8K349
Predicted Effect probably damaging
Transcript: ENSMUST00000053661
AA Change: D229G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
AA Change: D229G

DomainStartEndE-ValueType
low complexity region 66 71 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
Pfam:AIG1 104 303 7.7e-73 PFAM
Pfam:MMR_HSR1 105 226 2.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119315
SMART Domains Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867

DomainStartEndE-ValueType
low complexity region 66 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126422
SMART Domains Protein: ENSMUSP00000145325
Gene: ENSMUSG00000047867

DomainStartEndE-ValueType
low complexity region 66 71 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132725
Meta Mutation Damage Score 0.8801 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 76.0%
Validation Efficiency 91% (106/116)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016P04Rik T A 6: 13,415,772 (GRCm39) noncoding transcript Homo
Aif1 A G 17: 35,391,496 (GRCm39) L7S possibly damaging Homo
Ankrd26 T C 6: 118,506,535 (GRCm39) D646G probably benign Homo
Cacna1s A G 1: 136,001,247 (GRCm39) I233V probably benign Homo
Cfap92 A T 6: 87,667,773 (GRCm39) noncoding transcript Homo
Chchd4 T C 6: 91,442,187 (GRCm39) Y77C probably damaging Homo
Crocc G A 4: 140,749,057 (GRCm39) R1419C probably damaging Homo
Cyp4f39 A C 17: 32,687,655 (GRCm39) M74L probably benign Homo
Fgf9 C A 14: 58,327,421 (GRCm39) probably benign Homo
Glp1r T C 17: 31,150,257 (GRCm39) F393S probably damaging Homo
Lrrc7 T G 3: 157,865,977 (GRCm39) I1255L probably benign Homo
Mtrr C A 13: 68,723,516 (GRCm39) probably benign Homo
Pde6b A T 5: 108,576,969 (GRCm39) probably benign Homo
Rbm19 A T 5: 120,282,162 (GRCm39) I840F probably damaging Homo
Serpina3c A C 12: 104,115,864 (GRCm39) S227A probably benign Homo
Spag17 G A 3: 99,889,570 (GRCm39) probably benign Homo
Spmip3 G A 1: 177,561,100 (GRCm39) R13H probably damaging Homo
Zbtb8b T C 4: 129,326,361 (GRCm39) D268G probably benign Homo
Other mutations in Gimap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Gimap6 APN 6 48,679,355 (GRCm39) missense possibly damaging 0.91
IGL00896:Gimap6 APN 6 48,679,394 (GRCm39) missense probably benign 0.12
IGL02126:Gimap6 APN 6 48,679,635 (GRCm39) missense probably damaging 1.00
IGL02450:Gimap6 APN 6 48,681,351 (GRCm39) missense probably benign 0.07
IGL02493:Gimap6 APN 6 48,679,603 (GRCm39) missense probably damaging 0.99
IGL02601:Gimap6 APN 6 48,679,409 (GRCm39) missense probably damaging 1.00
natural UTSW 6 48,679,388 (GRCm39) missense probably damaging 0.99
PIT4515001:Gimap6 UTSW 6 48,679,502 (GRCm39) missense probably benign 0.00
PIT4519001:Gimap6 UTSW 6 48,684,995 (GRCm39) missense probably benign 0.06
R0066:Gimap6 UTSW 6 48,679,404 (GRCm39) missense probably damaging 1.00
R0066:Gimap6 UTSW 6 48,679,404 (GRCm39) missense probably damaging 1.00
R1594:Gimap6 UTSW 6 48,679,125 (GRCm39) missense probably benign 0.06
R2233:Gimap6 UTSW 6 48,681,418 (GRCm39) missense possibly damaging 0.92
R4982:Gimap6 UTSW 6 48,684,933 (GRCm39) missense probably benign 0.03
R5664:Gimap6 UTSW 6 48,679,209 (GRCm39) missense probably benign 0.01
R6235:Gimap6 UTSW 6 48,679,391 (GRCm39) missense probably benign 0.00
R7469:Gimap6 UTSW 6 48,679,392 (GRCm39) missense probably benign 0.00
R7997:Gimap6 UTSW 6 48,679,249 (GRCm39) missense probably damaging 1.00
R8715:Gimap6 UTSW 6 48,679,552 (GRCm39) missense probably damaging 1.00
R8910:Gimap6 UTSW 6 48,679,388 (GRCm39) missense probably damaging 0.99
R9638:Gimap6 UTSW 6 48,679,424 (GRCm39) missense probably benign 0.00
R9699:Gimap6 UTSW 6 48,684,951 (GRCm39) missense probably benign 0.41
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 780 of the Gimap6transcript, in exon 3 of 3 total exons. Two transcripts of Gimap6 exist on Ensembl. The mutated nucleotide causes an aspartic acid to glycine substitution at amino acid 229. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Gimap6 gene encodes a 305 amino acid long protein with evidence at the transcript level (Uniprot Q8K349). The GTPase immunity-associated nucleotide 6 protein (GIMAP6) belongs to the immunity-associated nucleotide (IAN) GTP-binding protein family. The function of these proteins are generally unknown, although they are differentially regulated during T cell differentiation and GIMAP4 is involved in T cell apoptosis. GIMAP5 is a negative regulator of apoptosis in lymphocytes and is required for lymphocyte survival. Mice deficient in GIMAP5 function display defects in lymphocyte development in addition to other hematopoietic defects (see the record for sphinx). Nucleotide binding sites for GIMAP6 occur at amino acids 110-117, 158-161, and 227-229. 
 
The D229G mutation alters the conserved aspartic acid residue at amino acid 229 in the GIMAP6 protein that is likely to be necessary for GTPase activity. The mutation is predicted to be probably damaging by the PolyPhen program.
Posted On 2009-11-10