Incidental Mutation 'IGL02679:Tmem255b'
ID303272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem255b
Ensembl Gene ENSMUSG00000038457
Gene Nametransmembrane protein 255B
SynonymsFam70b, LOC272465
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02679
Quality Score
Status
Chromosome8
Chromosomal Location13435189-13468473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 13457055 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 240 (M240I)
Ref Sequence ENSEMBL: ENSMUSP00000127421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167071] [ENSMUST00000167505] [ENSMUST00000210804]
Predicted Effect probably benign
Transcript: ENSMUST00000167071
AA Change: M240I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127421
Gene: ENSMUSG00000038457
AA Change: M240I

DomainStartEndE-ValueType
Pfam:FAM70 1 68 8.2e-28 PFAM
Pfam:FAM70 66 307 1.8e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167505
AA Change: M261I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130504
Gene: ENSMUSG00000038457
AA Change: M261I

DomainStartEndE-ValueType
Pfam:FAM70 6 328 6e-166 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209950
Predicted Effect probably benign
Transcript: ENSMUST00000210804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211356
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Tmem255b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Tmem255b APN 8 13457054 missense probably benign
IGL02635:Tmem255b APN 8 13455195 missense probably damaging 1.00
IGL02945:Tmem255b APN 8 13455141 missense probably damaging 0.98
IGL03007:Tmem255b APN 8 13457066 missense possibly damaging 0.94
IGL03146:Tmem255b APN 8 13454174 missense probably damaging 1.00
R2278:Tmem255b UTSW 8 13451081 missense probably damaging 1.00
R2410:Tmem255b UTSW 8 13441278 missense probably benign 0.22
R3081:Tmem255b UTSW 8 13451048 missense probably damaging 0.99
R4498:Tmem255b UTSW 8 13455998 missense probably damaging 1.00
R4612:Tmem255b UTSW 8 13454228 missense probably benign 0.00
R6018:Tmem255b UTSW 8 13455138 missense probably benign 0.00
R6073:Tmem255b UTSW 8 13456958 missense probably damaging 0.98
R6240:Tmem255b UTSW 8 13454216 missense probably damaging 1.00
R6737:Tmem255b UTSW 8 13457096 critical splice donor site probably null
Posted On2015-04-16