Incidental Mutation 'IGL00845:Tmem185a'
ID 9228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem185a
Ensembl Gene ENSMUSG00000073139
Gene Name transmembrane protein 185A
Synonyms BC023829
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00845
Quality Score
Status
Chromosome X
Chromosomal Location 69503359-69520786 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 69505923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101506] [ENSMUST00000114630]
AlphaFold A2AF53
Predicted Effect probably null
Transcript: ENSMUST00000101506
SMART Domains Protein: ENSMUSP00000099043
Gene: ENSMUSG00000073139

DomainStartEndE-ValueType
Pfam:Tmemb_185A 30 141 9.5e-38 PFAM
Pfam:Tmemb_185A 137 225 4.2e-22 PFAM
low complexity region 277 288 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114630
SMART Domains Protein: ENSMUSP00000110277
Gene: ENSMUSG00000073139

DomainStartEndE-ValueType
Pfam:Tmemb_185A 30 253 6.5e-65 PFAM
low complexity region 305 316 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154400
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 transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,823,174 (GRCm39) probably benign Het
Dnah8 T A 17: 31,038,250 (GRCm39) probably null Het
Hmcn1 G A 1: 150,480,757 (GRCm39) S4473F probably damaging Het
Mcf2 T A X: 59,172,446 (GRCm39) D429V probably damaging Het
Myo15a A G 11: 60,368,605 (GRCm39) D455G probably damaging Het
Myom1 T C 17: 71,391,424 (GRCm39) Y978H probably damaging Het
Naglu A G 11: 100,967,778 (GRCm39) E576G possibly damaging Het
Rbm20 T C 19: 53,806,380 (GRCm39) Y487H probably damaging Het
Slc12a1 T A 2: 125,030,158 (GRCm39) C577S probably damaging Het
Slc34a2 T C 5: 53,215,696 (GRCm39) probably benign Het
Sulf1 C T 1: 12,867,191 (GRCm39) T125I probably damaging Het
Tbc1d21 C T 9: 58,269,745 (GRCm39) V198I possibly damaging Het
Tcp11l2 T C 10: 84,440,847 (GRCm39) V351A possibly damaging Het
Tdrd6 T C 17: 43,937,607 (GRCm39) D1147G probably benign Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zfp599 T A 9: 22,162,814 (GRCm39) probably benign Het
Zmym4 A G 4: 126,794,406 (GRCm39) V908A probably benign Het
Other mutations in Tmem185a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3937:Tmem185a UTSW X 69,505,792 (GRCm39) splice site probably null
R3938:Tmem185a UTSW X 69,505,792 (GRCm39) splice site probably null
Posted On 2012-12-06