Incidental Mutation 'IGL00547:Gm7073'
ID 5644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm7073
Ensembl Gene ENSMUSG00000079583
Gene Name predicted gene 7073
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00547
Quality Score
Status
Chromosome X
Chromosomal Location 59481236-59502437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59481748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 204 (D204E)
Ref Sequence ENSEMBL: ENSMUSP00000139835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114687] [ENSMUST00000154051] [ENSMUST00000166562] [ENSMUST00000190178]
AlphaFold E9QAS1
Predicted Effect probably benign
Transcript: ENSMUST00000114687
AA Change: D204E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110335
Gene: ENSMUSG00000079583
AA Change: D204E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138569
Predicted Effect probably benign
Transcript: ENSMUST00000154051
SMART Domains Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 22 91 2.6e-25 PFAM
Pfam:E1-E2_ATPase 96 371 2.7e-13 PFAM
Pfam:Hydrolase 403 725 2.4e-7 PFAM
Pfam:HAD 406 825 3.4e-19 PFAM
Pfam:Cation_ATPase 467 576 8.6e-14 PFAM
Pfam:PhoLip_ATPase_C 842 1094 3.4e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166562
AA Change: D204E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128728
Gene: ENSMUSG00000079583
AA Change: D204E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190178
AA Change: D204E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139835
Gene: ENSMUSG00000079583
AA Change: D204E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,076,302 (GRCm39) Q1345K possibly damaging Het
Arhgap40 T C 2: 158,380,546 (GRCm39) probably benign Het
Atp8b4 A G 2: 126,200,817 (GRCm39) C784R probably damaging Het
Bicral T C 17: 47,136,278 (GRCm39) I311V probably benign Het
Cep290 G A 10: 100,346,570 (GRCm39) R551H probably damaging Het
Chd9 A T 8: 91,732,426 (GRCm39) M842L probably damaging Het
Cntn6 A G 6: 104,627,361 (GRCm39) N65D probably damaging Het
Dnah8 C T 17: 31,034,677 (GRCm39) Q4199* probably null Het
Ercc3 T C 18: 32,397,598 (GRCm39) probably benign Het
Gm454 T C 5: 138,205,389 (GRCm39) noncoding transcript Het
Myo5a A G 9: 75,048,735 (GRCm39) H286R probably benign Het
Nelfb C A 2: 25,094,300 (GRCm39) M354I possibly damaging Het
Oas3 C T 5: 120,915,507 (GRCm39) probably benign Het
Phldb2 A G 16: 45,645,898 (GRCm39) S228P probably benign Het
Pls3 A T X: 74,837,874 (GRCm39) I429N probably damaging Het
Ptprq C T 10: 107,554,402 (GRCm39) V108M probably damaging Het
Rlf A G 4: 121,027,883 (GRCm39) S138P possibly damaging Het
Rpn2 T C 2: 157,156,833 (GRCm39) Y479H probably damaging Het
Sdr16c5 A T 4: 4,012,320 (GRCm39) probably benign Het
Slco6c1 A T 1: 97,015,674 (GRCm39) N372K probably benign Het
Stag2 T C X: 41,335,892 (GRCm39) I563T probably benign Het
Vrk1 T C 12: 106,024,840 (GRCm39) S239P probably damaging Het
Posted On 2012-04-20