Incidental Mutation 'IGL02450:Gimap6'
ID294146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap6
Ensembl Gene ENSMUSG00000047867
Gene NameGTPase, IMAP family member 6
Synonyms4833419H03Rik, Ian6
Accession Numbers

Genbank: NM_153175; MGI: 1918876

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02450
Quality Score
Status
Chromosome6
Chromosomal Location48701582-48708225 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48704417 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 94 (I94M)
Ref Sequence ENSEMBL: ENSMUSP00000113918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053661] [ENSMUST00000119315] [ENSMUST00000126422]
Predicted Effect probably benign
Transcript: ENSMUST00000053661
SMART Domains Protein: ENSMUSP00000059371
Gene: ENSMUSG00000047867

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
AA Change: I94M

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113918
Gene: ENSMUSG00000047867
AA Change: I94M

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bdnf G A 2: 109,723,604 V108I possibly damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Egfem1 G A 3: 29,657,268 probably null Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Jup C T 11: 100,378,357 C410Y probably damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Lsm1 C A 8: 25,793,778 L73I possibly damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Obox6 A G 7: 15,833,713 C270R probably damaging Het
Olfr525 A G 7: 140,323,227 H176R possibly damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Gimap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Gimap6 APN 6 48702421 missense possibly damaging 0.91
IGL00896:Gimap6 APN 6 48702460 missense probably benign 0.12
IGL02126:Gimap6 APN 6 48702701 missense probably damaging 1.00
IGL02493:Gimap6 APN 6 48702669 missense probably damaging 0.99
IGL02601:Gimap6 APN 6 48702475 missense probably damaging 1.00
N/A:Gimap6 UTSW 6 48702415 missense probably damaging 0.99
PIT4515001:Gimap6 UTSW 6 48702568 missense probably benign 0.00
PIT4519001:Gimap6 UTSW 6 48708061 missense probably benign 0.06
R0066:Gimap6 UTSW 6 48702470 missense probably damaging 1.00
R0066:Gimap6 UTSW 6 48702470 missense probably damaging 1.00
R1594:Gimap6 UTSW 6 48702191 missense probably benign 0.06
R2233:Gimap6 UTSW 6 48704484 missense possibly damaging 0.92
R4982:Gimap6 UTSW 6 48707999 missense probably benign 0.03
R5664:Gimap6 UTSW 6 48702275 missense probably benign 0.01
R6235:Gimap6 UTSW 6 48702457 missense probably benign 0.00
R7469:Gimap6 UTSW 6 48702458 missense probably benign 0.00
R7997:Gimap6 UTSW 6 48702315 missense probably damaging 1.00
Posted On2015-04-16