Incidental Mutation 'IGL01786:Tmem50a'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem50a
Ensembl Gene ENSMUSG00000028822
Gene Nametransmembrane protein 50A
SynonymsSmp1, CAM, 3200001F09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #IGL01786
Quality Score
Chromosomal Location134897849-134915024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134898447 bp
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]
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

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

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

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: 24,996,839 H20L probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Ddx1 A T 12: 13,229,136 D468E probably benign Het
Hk2 A G 6: 82,739,553 S333P probably benign Het
Kctd19 T C 8: 105,390,304 T398A probably benign Het
Klra8 T A 6: 130,119,068 probably null Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Mylk3 T C 8: 85,359,317 Q36R probably benign Het
Myom2 T C 8: 15,106,330 S726P probably damaging Het
Nuf2 T C 1: 169,510,483 S242G possibly damaging Het
Nup210l T A 3: 90,122,776 Y265* probably null Het
Olfr1445 C T 19: 12,884,277 T132I probably damaging Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Papolg A G 11: 23,874,488 V298A probably damaging Het
Phc1 T C 6: 122,319,520 D847G possibly damaging Het
Pkd2l1 A G 19: 44,191,442 F110L probably damaging Het
Plxnd1 T A 6: 115,959,935 T1638S probably damaging Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Rnf32 T C 5: 29,206,814 probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Slc44a2 A G 9: 21,352,486 Y650C probably damaging Het
Sv2a A T 3: 96,188,209 Y306F probably benign Het
Tor1a A G 2: 30,963,703 probably null Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Other mutations in Tmem50a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Tmem50a APN 4 134898447 missense probably damaging 1.00
IGL01951:Tmem50a APN 4 134898428 utr 3 prime probably benign
R1502:Tmem50a UTSW 4 134909669 missense probably benign 0.00
R1708:Tmem50a UTSW 4 134898468 missense probably benign 0.19
R1935:Tmem50a UTSW 4 134903642 splice site probably benign
R4902:Tmem50a UTSW 4 134909706 missense probably damaging 0.97
R5625:Tmem50a UTSW 4 134898467 small deletion probably benign
Z1176:Tmem50a UTSW 4 134903744 critical splice acceptor site probably null
Posted On2015-04-16