Incidental Mutation 'R5625:Tmem50a'
ID 441783
Institutional Source Beutler Lab
Gene Symbol Tmem50a
Ensembl Gene ENSMUSG00000028822
Gene Name transmembrane protein 50A
Synonyms 3200001F09Rik, CAM, Smp1
MMRRC Submission 043164-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R5625 (G1)
Quality Score 217
Status Validated
Chromosome 4
Chromosomal Location 134625160-134642307 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) AACCA to AA at 134625778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030626] [ENSMUST00000030627] [ENSMUST00000105863]
AlphaFold Q9CXL1
Predicted Effect probably benign
Transcript: ENSMUST00000030626
SMART Domains Protein: ENSMUSP00000030626
Gene: ENSMUSG00000028822

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 benign
Transcript: ENSMUST00000105863
SMART Domains Protein: ENSMUSP00000101489
Gene: ENSMUSG00000028822

DomainStartEndE-ValueType
Pfam:UPF0220 5 156 2.4e-50 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T G 9: 44,189,333 (GRCm39) D388A probably benign Het
Ampd3 A C 7: 110,401,730 (GRCm39) E408A probably damaging Het
Bmp1 G T 14: 70,723,606 (GRCm39) N743K probably benign Het
Brsk1 A G 7: 4,709,399 (GRCm39) K398E probably damaging Het
Ccdc157 A T 11: 4,101,888 (GRCm39) M11K probably damaging Het
Cep295 A C 9: 15,252,187 (GRCm39) M394R probably damaging Het
Cfap44 G T 16: 44,280,710 (GRCm39) probably null Het
Col13a1 C T 10: 61,679,388 (GRCm39) G713R unknown Het
Cxcr2 A T 1: 74,197,991 (GRCm39) K162* probably null Het
Cyp3a44 C T 5: 145,716,376 (GRCm39) D405N possibly damaging Het
Exo1 G T 1: 175,721,380 (GRCm39) D340Y possibly damaging Het
Farp2 T G 1: 93,456,470 (GRCm39) L51R probably damaging Het
Fat4 A T 3: 38,943,083 (GRCm39) I659F possibly damaging Het
Gbp2b T A 3: 142,304,806 (GRCm39) W81R probably damaging Het
Gipc2 C T 3: 151,871,541 (GRCm39) probably benign Het
Gm10941 G T 10: 77,094,670 (GRCm39) probably benign Het
Gm1988 A T 7: 38,823,229 (GRCm39) noncoding transcript Het
Hapln3 G T 7: 78,767,006 (GRCm39) probably null Het
Ifi213 A G 1: 173,396,629 (GRCm39) S482P possibly damaging Het
Insc A G 7: 114,428,302 (GRCm39) T92A probably damaging Het
Lrrn1 T A 6: 107,544,315 (GRCm39) C38S probably damaging Het
Mycbpap T C 11: 94,396,519 (GRCm39) E107G probably damaging Het
Neb A T 2: 52,067,547 (GRCm39) L5848* probably null Het
Nrg3 A T 14: 38,092,950 (GRCm39) M545K probably damaging Het
Nudt3 A G 17: 27,802,202 (GRCm39) L28P probably damaging Het
Or8g35 T A 9: 39,381,099 (GRCm39) M308L probably benign Het
Otop1 A T 5: 38,460,104 (GRCm39) Y557F probably damaging Het
Pcare T A 17: 72,058,321 (GRCm39) D452V probably damaging Het
Pdgfra G A 5: 75,349,998 (GRCm39) probably null Het
Pi4kb A G 3: 94,891,988 (GRCm39) M223V probably benign Het
Piezo1 T C 8: 123,209,699 (GRCm39) T2335A probably benign Het
Ppp6c A G 2: 39,087,453 (GRCm39) V251A probably benign Het
Prkg1 C T 19: 31,742,162 (GRCm39) E21K possibly damaging Het
Ptpru T C 4: 131,530,691 (GRCm39) E521G probably null Het
Rasl10b G T 11: 83,309,640 (GRCm39) R199L probably damaging Het
Rhbdf2 G A 11: 116,496,203 (GRCm39) R111C probably damaging Het
Sec23ip G T 7: 128,346,707 (GRCm39) probably benign Het
Sptbn5 A T 2: 119,910,273 (GRCm39) noncoding transcript Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Syne2 T C 12: 76,141,886 (GRCm39) S6141P probably benign Het
Szt2 A G 4: 118,230,414 (GRCm39) V2653A unknown Het
Tex46 T C 4: 136,337,925 (GRCm39) F39S probably damaging Het
Tmem62 G T 2: 120,820,874 (GRCm39) W180L probably damaging Het
Tnxb G A 17: 34,904,185 (GRCm39) A1232T probably benign Het
Tubgcp3 T C 8: 12,674,888 (GRCm39) H744R possibly damaging Het
Uggt2 A G 14: 119,315,136 (GRCm39) I311T probably damaging Het
Usp8 C T 2: 126,584,197 (GRCm39) R469C probably damaging Het
Vmn1r19 T C 6: 57,382,281 (GRCm39) L278S probably damaging Het
Vmn2r129 A T 4: 156,686,505 (GRCm39) noncoding transcript Het
Vmn2r59 A T 7: 41,695,884 (GRCm39) I176N probably benign Het
Wdr93 A G 7: 79,420,766 (GRCm39) T376A probably benign Het
Zfp575 G A 7: 24,285,077 (GRCm39) A188V possibly damaging Het
Other mutations in Tmem50a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Tmem50a APN 4 134,625,758 (GRCm39) missense probably damaging 1.00
IGL01786: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
Z1176:Tmem50a UTSW 4 134,631,055 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGCAGTACACATAGGAGCTCTC -3'
(R):5'- TCGAGGAGGGACACTATGTC -3'

Sequencing Primer
(F):5'- CACATAGGAGCTCTCATGATTCTAGC -3'
(R):5'- AGGGACACTATGTCTTACTTGTC -3'
Posted On 2016-11-08