Incidental Mutation 'IGL00925:Tmem45a2'
ID29144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem45a2
Ensembl Gene ENSMUSG00000046748
Gene Nametransmembrane protein 45A2
Synonyms2310005G13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL00925
Quality Score
Status
Chromosome16
Chromosomal Location57036967-57071372 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57045255 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 189 (N189Y)
Ref Sequence ENSEMBL: ENSMUSP00000154589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067173] [ENSMUST00000227043]
Predicted Effect probably damaging
Transcript: ENSMUST00000067173
AA Change: N189Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: N189Y

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 108 126 N/A INTRINSIC
Pfam:DUF716 133 255 9.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226147
Predicted Effect probably damaging
Transcript: ENSMUST00000227043
AA Change: N189Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,931,040 Y325N probably damaging Het
Atoh8 A G 6: 72,234,569 V199A probably benign Het
Celf2 A T 2: 6,721,577 D6E probably benign Het
Cep170 T C 1: 176,793,524 D29G probably damaging Het
Cpb2 T C 14: 75,260,750 Y118H possibly damaging Het
Esf1 A G 2: 140,167,817 S200P probably benign Het
Glmn A T 5: 107,557,327 N474K probably damaging Het
Maea T C 5: 33,372,301 V377A probably benign Het
Npepps A G 11: 97,280,283 V59A probably damaging Het
Ocrl A G X: 47,947,097 E565G probably benign Het
Olfr1043 T C 2: 86,162,920 T10A probably benign Het
Pclo T C 5: 14,766,741 S4544P unknown Het
Per3 T C 4: 151,013,598 Y693C probably benign Het
Prkacb G T 3: 146,748,042 P167H probably benign Het
Ptprt A G 2: 161,656,163 S837P possibly damaging Het
Sema7a G T 9: 57,955,838 C264F probably damaging Het
Slitrk4 G T X: 64,272,051 P337T probably damaging Het
Tango6 T G 8: 106,695,445 probably benign Het
Tecta T C 9: 42,375,035 D775G probably benign Het
Ttc8 A G 12: 98,976,018 N364S probably damaging Het
Uhrf1 A G 17: 56,320,535 D697G probably benign Het
Vmn1r185 G A 7: 26,611,190 L297F probably benign Het
Vmn2r11 T C 5: 109,047,019 T814A probably benign Het
Wdr36 A G 18: 32,845,631 T198A possibly damaging Het
Zfhx2 G A 14: 55,073,061 P676L probably benign Het
Zfp451 A G 1: 33,776,261 probably benign Het
Other mutations in Tmem45a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Tmem45a2 APN 16 57040790 missense possibly damaging 0.81
IGL01481:Tmem45a2 APN 16 57047012 missense probably benign 0.00
R0230:Tmem45a2 UTSW 16 57046996 missense possibly damaging 0.79
R0633:Tmem45a2 UTSW 16 57049414 missense probably benign 0.03
R0850:Tmem45a2 UTSW 16 57045369 missense probably benign 0.00
R1164:Tmem45a2 UTSW 16 57049426 missense probably damaging 0.99
R1874:Tmem45a2 UTSW 16 57047084 missense possibly damaging 0.86
R3938:Tmem45a2 UTSW 16 57039035 missense probably benign
R4084:Tmem45a2 UTSW 16 57071024 missense probably benign
R5309:Tmem45a2 UTSW 16 57039007 missense possibly damaging 0.70
R5312:Tmem45a2 UTSW 16 57039007 missense possibly damaging 0.70
R6866:Tmem45a2 UTSW 16 57047023 missense probably damaging 0.97
Posted On2013-04-17