Incidental Mutation 'IGL02932:Tmem255a'
ID 364157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem255a
Ensembl Gene ENSMUSG00000036502
Gene Name transmembrane protein 255A
Synonyms Fam70a, 6430550H21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02932
Quality Score
Status
Chromosome X
Chromosomal Location 37285450-37341316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37296940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 280 (T280S)
Ref Sequence ENSEMBL: ENSMUSP00000086457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066498] [ENSMUST00000089054] [ENSMUST00000089056]
AlphaFold Q8BHW5
Predicted Effect probably benign
Transcript: ENSMUST00000066498
AA Change: T280S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064511
Gene: ENSMUSG00000036502
AA Change: T280S

DomainStartEndE-ValueType
Pfam:FAM70 7 350 3e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089054
AA Change: T257S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000086455
Gene: ENSMUSG00000036502
AA Change: T257S

DomainStartEndE-ValueType
Pfam:FAM70 2 328 1e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089056
AA Change: T280S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086457
Gene: ENSMUSG00000036502
AA Change: T280S

DomainStartEndE-ValueType
Pfam:FAM70 2 319 4.4e-148 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175053
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,709 (GRCm39) E122D probably damaging Het
Asb3 G A 11: 30,979,067 (GRCm39) probably null Het
Avl9 T C 6: 56,713,536 (GRCm39) S265P probably benign Het
Cep44 C T 8: 57,000,459 (GRCm39) R18Q probably damaging Het
Clec10a T C 11: 70,060,554 (GRCm39) probably benign Het
Cog4 A G 8: 111,579,065 (GRCm39) I115V probably benign Het
Coq3 C T 4: 21,900,430 (GRCm39) A219V probably benign Het
Cry2 G A 2: 92,243,462 (GRCm39) R460* probably null Het
Ddx39b A G 17: 35,472,337 (GRCm39) probably benign Het
Dhx40 G A 11: 86,662,755 (GRCm39) R646C probably damaging Het
Ears2 G A 7: 121,662,284 (GRCm39) R55C probably damaging Het
Eif3m C T 2: 104,845,214 (GRCm39) G26R probably damaging Het
Exo5 A G 4: 120,779,742 (GRCm39) L41P probably benign Het
Fut10 A G 8: 31,749,965 (GRCm39) H417R probably damaging Het
Gars1 T A 6: 55,037,929 (GRCm39) L296Q probably damaging Het
Gpr143 A T X: 151,576,439 (GRCm39) probably benign Het
Htr1b C A 9: 81,513,689 (GRCm39) R306L probably damaging Het
Lama3 G A 18: 12,661,858 (GRCm39) A2185T probably damaging Het
Mbd5 C A 2: 49,169,460 (GRCm39) Q1544K possibly damaging Het
Mccc1 T C 3: 36,014,178 (GRCm39) E713G possibly damaging Het
Mttp A G 3: 137,817,505 (GRCm39) F415S probably benign Het
Mug1 A G 6: 121,864,386 (GRCm39) T1428A probably benign Het
Mup6 A C 4: 60,006,009 (GRCm39) D159A probably damaging Het
Nsd2 T C 5: 34,037,472 (GRCm39) L698P probably damaging Het
Or2w6 A T 13: 21,843,001 (GRCm39) M164K probably damaging Het
Or4p22 G T 2: 88,317,519 (GRCm39) V148F probably benign Het
Or5p70 A G 7: 107,994,720 (GRCm39) N131S probably benign Het
Or6c217 A T 10: 129,738,287 (GRCm39) C97* probably null Het
Osgepl1 G A 1: 53,360,675 (GRCm39) R372H probably benign Het
Pias2 C T 18: 77,232,799 (GRCm39) H537Y probably damaging Het
Slc38a7 A C 8: 96,572,783 (GRCm39) I149M probably damaging Het
Smn1 A G 13: 100,264,472 (GRCm39) T68A probably benign Het
Syde2 A G 3: 145,707,231 (GRCm39) K657R possibly damaging Het
Tdrd5 A T 1: 156,098,190 (GRCm39) H625Q possibly damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Ttpa A G 4: 20,021,215 (GRCm39) T128A possibly damaging Het
Wdhd1 A G 14: 47,509,591 (GRCm39) probably null Het
Other mutations in Tmem255a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0481:Tmem255a UTSW X 37,288,523 (GRCm39) missense probably damaging 0.96
Posted On 2015-12-18