Incidental Mutation 'IGL00584:Gimap7'
ID5450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gimap7
Ensembl Gene ENSMUSG00000043931
Gene NameGTPase, IMAP family member 7
SynonymsIAN7, Ian3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL00584
Quality Score
Status
Chromosome6
Chromosomal Location48718621-48724636 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 48723733 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 84 (C84*)
Ref Sequence ENSEMBL: ENSMUSP00000145238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052503] [ENSMUST00000127537] [ENSMUST00000204785]
Predicted Effect probably null
Transcript: ENSMUST00000052503
AA Change: C84*
SMART Domains Protein: ENSMUSP00000057143
Gene: ENSMUSG00000043931
AA Change: C84*

DomainStartEndE-ValueType
Pfam:AIG1 9 218 1.2e-82 PFAM
Pfam:MMR_HSR1 10 144 8.7e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204317
Predicted Effect probably null
Transcript: ENSMUST00000204785
AA Change: C84*
SMART Domains Protein: ENSMUSP00000145238
Gene: ENSMUSG00000043931
AA Change: C84*

DomainStartEndE-ValueType
Pfam:FeoB_N 9 82 7.2e-5 PFAM
Pfam:AIG1 9 86 3.9e-31 PFAM
Pfam:MMR_HSR1 10 86 7.5e-10 PFAM
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
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 T C 9: 87,221,090 probably benign Het
Ces4a G T 8: 105,145,163 M288I probably benign Het
Dusp19 G A 2: 80,630,782 probably null Het
Eif4g1 C A 16: 20,686,754 probably benign Het
Farp1 T G 14: 121,237,149 I258S probably damaging Het
Galnt18 T A 7: 111,471,995 Q589L probably damaging Het
Il12rb2 T C 6: 67,357,692 T168A probably damaging Het
Krba1 T C 6: 48,406,318 L216S possibly damaging Het
Mki67 T C 7: 135,695,695 K2537E probably damaging Het
Myo6 G T 9: 80,242,273 probably benign Het
Nbea T A 3: 56,082,448 N329I probably damaging Het
Ndufb11 T A X: 20,617,100 Q54L possibly damaging Het
Nudt1 T C 5: 140,337,710 F139S probably damaging Het
Rgn A T X: 20,557,517 M118L probably benign Het
Syt12 C T 19: 4,447,845 V370M probably damaging Het
Syt14 A T 1: 192,930,484 N669K possibly damaging Het
Other mutations in Gimap7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Gimap7 APN 6 48724296 missense probably damaging 0.98
IGL03134:Gimap7 UTSW 6 48723501 missense probably benign 0.04
R0848:Gimap7 UTSW 6 48723723 missense probably damaging 0.99
R1590:Gimap7 UTSW 6 48724019 missense probably damaging 0.96
R1603:Gimap7 UTSW 6 48723930 missense probably damaging 1.00
R1874:Gimap7 UTSW 6 48723515 missense possibly damaging 0.81
R1982:Gimap7 UTSW 6 48724241 missense possibly damaging 0.83
R2471:Gimap7 UTSW 6 48724052 missense probably damaging 0.99
R3888:Gimap7 UTSW 6 48723845 missense probably benign 0.05
R5512:Gimap7 UTSW 6 48723596 missense probably benign 0.07
R6378:Gimap7 UTSW 6 48724182 missense probably damaging 1.00
R7699:Gimap7 UTSW 6 48723857 missense possibly damaging 0.48
R7700:Gimap7 UTSW 6 48723857 missense possibly damaging 0.48
Z1176:Gimap7 UTSW 6 48724153 missense probably benign 0.03
Z1177:Gimap7 UTSW 6 48724321 frame shift probably null
Posted On2012-04-20