Incidental Mutation 'IGL02601:Gimap6'
ID 300096
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02601
Quality Score
Status
Chromosome 6
Chromosomal Location 48678516-48685159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48679409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 209 (Q209L)
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: Q209L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867
AA Change: Q209L

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
Coding Region Coverage
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. [provided by RefSeq, Jul 2008]
Allele List at MGI

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

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
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
natural UTSW 6 48,679,388 (GRCm39) missense probably damaging 0.99
N/A:Gimap6 UTSW 6 48,679,349 (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
Posted On 2015-04-16