Incidental Mutation 'IGL02635:Tmem255b'
ID301498
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: 0.056) question?
Stock #IGL02635
Quality Score
Status
Chromosome8
Chromosomal Location13435189-13468473 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 13455195 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 167 (D167Y)
Ref Sequence ENSEMBL: ENSMUSP00000130504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167071] [ENSMUST00000167505] [ENSMUST00000210804]
Predicted Effect probably damaging
Transcript: ENSMUST00000167071
AA Change: D146Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127421
Gene: ENSMUSG00000038457
AA Change: D146Y

DomainStartEndE-ValueType
Pfam:FAM70 1 68 8.2e-28 PFAM
Pfam:FAM70 66 307 1.8e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167505
AA Change: D167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130504
Gene: ENSMUSG00000038457
AA Change: D167Y

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A C 12: 112,415,152 noncoding transcript Het
Abcc12 C T 8: 86,509,682 probably benign Het
Akap9 T C 5: 4,070,500 S3639P possibly damaging Het
Ankar C T 1: 72,652,431 V1124I possibly damaging Het
AW209491 C T 13: 14,637,267 A235V possibly damaging Het
Cask A T X: 13,714,770 D58E probably damaging Het
Cdhr4 T A 9: 107,992,871 M25K probably benign Het
Clasp2 A G 9: 113,908,842 I1096V probably damaging Het
Fam234a T A 17: 26,214,453 I410F possibly damaging Het
Gbe1 T C 16: 70,569,014 L693P probably damaging Het
Golgb1 G T 16: 36,915,013 V1541L probably benign Het
Gpr143 G A X: 152,808,261 E382K probably damaging Het
Gpr171 C T 3: 59,097,596 V253I probably benign Het
Gsap T A 5: 21,289,816 W10R probably damaging Het
Hsd17b12 T A 2: 94,083,211 D116V possibly damaging Het
Ifih1 A T 2: 62,611,829 L348Q probably damaging Het
Ighv1-50 G A 12: 115,119,995 A35V probably benign Het
Lrcol1 A C 5: 110,354,593 M112L probably benign Het
Lrrc59 T A 11: 94,643,456 V280E probably damaging Het
Med17 A T 9: 15,274,549 I223K probably damaging Het
Olfr1508 T C 14: 52,463,794 I72V probably damaging Het
Oog3 T C 4: 144,158,145 N407S probably damaging Het
Pear1 T C 3: 87,750,146 *1035W probably null Het
Pkd1 T A 17: 24,572,811 F1157L probably damaging Het
Pkp4 T C 2: 59,305,498 probably benign Het
Ppl T C 16: 5,089,767 E888G probably benign Het
Prh1 G A 6: 132,572,283 G251E unknown Het
Prkar2a A G 9: 108,728,277 E178G probably damaging Het
Rfx6 A T 10: 51,716,026 T352S possibly damaging Het
S1pr1 T C 3: 115,712,090 K285R probably benign Het
Slc12a1 A G 2: 125,225,978 H995R probably benign Het
Slc25a54 T A 3: 109,112,817 N382K possibly damaging Het
Snrnp48 T G 13: 38,209,869 probably benign Het
Spg11 T C 2: 122,113,068 D201G possibly damaging Het
Stox1 T C 10: 62,664,906 D625G probably benign Het
Supt6 T C 11: 78,212,739 H1380R probably damaging Het
Tcp1 T A 17: 12,923,409 M430K probably benign Het
Tlr12 A T 4: 128,616,816 V547E probably damaging Het
Trpc7 T C 13: 56,776,168 R735G probably damaging Het
Trpm1 A G 7: 64,199,224 T73A probably benign Het
Ubr3 A T 2: 70,020,483 L1748F probably damaging Het
Xirp2 T C 2: 67,507,910 I165T possibly damaging Het
Ybx1 T C 4: 119,279,089 N282S possibly damaging Het
Zdhhc12 T A 2: 30,093,519 I24F probably damaging Het
Other mutations in Tmem255b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Tmem255b APN 8 13457054 missense probably benign
IGL02679:Tmem255b APN 8 13457055 missense probably benign 0.04
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
R8231:Tmem255b UTSW 8 13454225 missense probably damaging 0.97
Posted On2015-04-16