Incidental Mutation 'IGL01930:Tmem273'
ID 180410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem273
Ensembl Gene ENSMUSG00000041707
Gene Name transmembrane protein 273
Synonyms 1810011H11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01930
Quality Score
Status
Chromosome 14
Chromosomal Location 32507920-32539941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32538814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 92 (E92K)
Ref Sequence ENSEMBL: ENSMUSP00000153805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039191] [ENSMUST00000227060] [ENSMUST00000227871]
AlphaFold E9PVZ2
Predicted Effect probably benign
Transcript: ENSMUST00000039191
AA Change: E92K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132997
Gene: ENSMUSG00000041707
AA Change: E92K

DomainStartEndE-ValueType
Pfam:DUF4514 16 75 3.6e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000227060
AA Change: E48K
Predicted Effect probably benign
Transcript: ENSMUST00000227871
AA Change: E92K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect silent
Transcript: ENSMUST00000228481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228955
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C T 9: 3,134,875 (GRCm39) noncoding transcript Het
Acsf3 A G 8: 123,507,085 (GRCm39) Y126C probably benign Het
Akr1c20 T A 13: 4,557,647 (GRCm39) probably benign Het
Cdan1 T C 2: 120,557,063 (GRCm39) probably benign Het
Cdc42bpg C T 19: 6,361,398 (GRCm39) A308V probably damaging Het
Dek T C 13: 47,241,611 (GRCm39) I318V probably benign Het
Dvl1 A G 4: 155,940,645 (GRCm39) M422V possibly damaging Het
Dync2i1 A G 12: 116,189,583 (GRCm39) probably null Het
Erbin G A 13: 103,977,680 (GRCm39) L626F probably damaging Het
Fa2h A T 8: 112,075,936 (GRCm39) V229E possibly damaging Het
Gfpt1 T A 6: 87,036,397 (GRCm39) H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gpr162 A G 6: 124,838,575 (GRCm39) L25P possibly damaging Het
Hsd3b5 T C 3: 98,529,475 (GRCm39) T52A probably benign Het
Megf8 T A 7: 25,034,286 (GRCm39) V668D probably damaging Het
Or10j2 T C 1: 173,098,177 (GRCm39) V145A probably benign Het
Prkdc A G 16: 15,516,751 (GRCm39) T1042A probably damaging Het
Rasgrf2 A G 13: 92,130,857 (GRCm39) S735P probably damaging Het
Serpina3n T A 12: 104,375,231 (GRCm39) L101H probably damaging Het
Sipa1l2 T C 8: 126,145,978 (GRCm39) D1674G probably damaging Het
Sval3 A G 6: 41,949,455 (GRCm39) N98D probably benign Het
Tbc1d16 G A 11: 119,046,901 (GRCm39) R449C possibly damaging Het
Tm7sf3 A C 6: 146,512,431 (GRCm39) I321S possibly damaging Het
Trappc13 A G 13: 104,284,586 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr76 A G 2: 121,341,303 (GRCm39) D116G possibly damaging Het
Zscan18 T C 7: 12,509,275 (GRCm39) probably benign Het
Other mutations in Tmem273
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03225:Tmem273 APN 14 32,527,133 (GRCm39) missense probably damaging 0.97
R0060:Tmem273 UTSW 14 32,528,726 (GRCm39) intron probably benign
R0255:Tmem273 UTSW 14 32,530,320 (GRCm39) missense possibly damaging 0.91
R1520:Tmem273 UTSW 14 32,527,083 (GRCm39) intron probably benign
R4641:Tmem273 UTSW 14 32,528,839 (GRCm39) missense probably damaging 0.99
R5218:Tmem273 UTSW 14 32,538,793 (GRCm39) splice site probably null
R6111:Tmem273 UTSW 14 32,528,755 (GRCm39) missense possibly damaging 0.93
R6793:Tmem273 UTSW 14 32,528,778 (GRCm39) missense probably benign
R7714:Tmem273 UTSW 14 32,527,129 (GRCm39) missense possibly damaging 0.63
R8087:Tmem273 UTSW 14 32,507,926 (GRCm39) unclassified probably benign
Posted On 2014-05-07