Incidental Mutation 'IGL01786:Tmem50a'
ID 278913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem50a
Ensembl Gene ENSMUSG00000028822
Gene Name transmembrane protein 50A
Synonyms 3200001F09Rik, CAM, Smp1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # IGL01786
Quality Score
Status
Chromosome 4
Chromosomal Location 134625160-134642307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134625758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 153 (E153G)
Ref Sequence ENSEMBL: ENSMUSP00000101489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030626] [ENSMUST00000030627] [ENSMUST00000105863]
AlphaFold Q9CXL1
Predicted Effect probably damaging
Transcript: ENSMUST00000030626
AA Change: E153G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030626
Gene: ENSMUSG00000028822
AA Change: E153G

DomainStartEndE-ValueType
Pfam:UPF0220 1 157 1.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030627
SMART Domains Protein: ENSMUSP00000030627
Gene: ENSMUSG00000028825

DomainStartEndE-ValueType
Pfam:Ammonium_transp 21 400 1.2e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105863
AA Change: E153G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101489
Gene: ENSMUSG00000028822
AA Change: E153G

DomainStartEndE-ValueType
Pfam:UPF0220 5 156 2.4e-50 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 25,486,855 (GRCm39) H20L probably damaging Het
Ano3 T A 2: 110,513,060 (GRCm39) Q645L probably damaging Het
Clasp1 T A 1: 118,425,466 (GRCm39) L272Q possibly damaging Het
Corin T C 5: 72,497,219 (GRCm39) N532S probably damaging Het
Ddx1 A T 12: 13,279,137 (GRCm39) D468E probably benign Het
Hk2 A G 6: 82,716,534 (GRCm39) S333P probably benign Het
Kctd19 T C 8: 106,116,936 (GRCm39) T398A probably benign Het
Klra8 T A 6: 130,096,031 (GRCm39) probably null Het
Mcm8 A G 2: 132,669,868 (GRCm39) D314G probably benign Het
Mga T A 2: 119,733,393 (GRCm39) D80E probably damaging Het
Mylk3 T C 8: 86,085,946 (GRCm39) Q36R probably benign Het
Myom2 T C 8: 15,156,330 (GRCm39) S726P probably damaging Het
Nuf2 T C 1: 169,338,052 (GRCm39) S242G possibly damaging Het
Nup210l T A 3: 90,030,083 (GRCm39) Y265* probably null Het
Or12j3 T A 7: 139,953,038 (GRCm39) M162L probably benign Het
Or5b12b C T 19: 12,861,641 (GRCm39) T132I probably damaging Het
Otud3 T C 4: 138,624,208 (GRCm39) D278G probably benign Het
Papolg A G 11: 23,824,488 (GRCm39) V298A probably damaging Het
Phc1 T C 6: 122,296,479 (GRCm39) D847G possibly damaging Het
Pkd2l1 A G 19: 44,179,881 (GRCm39) F110L probably damaging Het
Plxnd1 T A 6: 115,936,896 (GRCm39) T1638S probably damaging Het
Polr3a G A 14: 24,534,188 (GRCm39) Q106* probably null Het
Rnf32 T C 5: 29,411,812 (GRCm39) probably benign Het
Slc30a9 A G 5: 67,503,581 (GRCm39) probably benign Het
Slc44a2 A G 9: 21,263,782 (GRCm39) Y650C probably damaging Het
Sv2a A T 3: 96,095,525 (GRCm39) Y306F probably benign Het
Tor1a A G 2: 30,853,715 (GRCm39) probably null Het
Trarg1 G A 11: 76,571,292 (GRCm39) V103I probably benign Het
Usp20 A G 2: 30,907,175 (GRCm39) E594G probably benign Het
Other mutations in Tmem50a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Tmem50a APN 4 134,625,758 (GRCm39) missense probably damaging 1.00
IGL01951:Tmem50a APN 4 134,625,739 (GRCm39) utr 3 prime probably benign
R1502:Tmem50a UTSW 4 134,636,980 (GRCm39) missense probably benign 0.00
R1708:Tmem50a UTSW 4 134,625,779 (GRCm39) missense probably benign 0.19
R1935:Tmem50a UTSW 4 134,630,953 (GRCm39) splice site probably benign
R4902:Tmem50a UTSW 4 134,637,017 (GRCm39) missense probably damaging 0.97
R5625:Tmem50a UTSW 4 134,625,778 (GRCm39) small deletion probably benign
Z1176:Tmem50a UTSW 4 134,631,055 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16