Incidental Mutation 'IGL00334:Tmem120b'
ID6392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem120b
Ensembl Gene ENSMUSG00000054434
Gene Nametransmembrane protein 120B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00334
Quality Score
Status
Chromosome5
Chromosomal Location123068415-123117749 bp(+) (GRCm38)
Type of Mutationsplice site (21 bp from exon)
DNA Base Change (assembly) A to T at 123115166 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031401] [ENSMUST00000067505] [ENSMUST00000111619] [ENSMUST00000160344] [ENSMUST00000160479] [ENSMUST00000161059] [ENSMUST00000186469]
Predicted Effect probably benign
Transcript: ENSMUST00000031401
SMART Domains Protein: ENSMUSP00000031401
Gene: ENSMUSG00000029449

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
RHO 22 195 1.5e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000067505
AA Change: E249V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434
AA Change: E249V

DomainStartEndE-ValueType
Pfam:TMPIT 9 332 1.9e-158 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111619
AA Change: E210V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434
AA Change: E210V

DomainStartEndE-ValueType
Pfam:TMPIT 7 64 1.3e-14 PFAM
Pfam:TMPIT 60 298 1.3e-127 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160344
SMART Domains Protein: ENSMUSP00000124971
Gene: ENSMUSG00000054434

DomainStartEndE-ValueType
Pfam:TMPIT 7 64 4.1e-16 PFAM
Pfam:TMPIT 62 120 1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160479
SMART Domains Protein: ENSMUSP00000124866
Gene: ENSMUSG00000029449

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
RHO 22 195 1.5e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161049
Predicted Effect probably benign
Transcript: ENSMUST00000161059
SMART Domains Protein: ENSMUSP00000124358
Gene: ENSMUSG00000054434

DomainStartEndE-ValueType
Pfam:TMPIT 7 106 3.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181022
Predicted Effect probably benign
Transcript: ENSMUST00000186469
SMART Domains Protein: ENSMUSP00000140177
Gene: ENSMUSG00000029449

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
RHO 22 195 1.5e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200411
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Tmem120b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Tmem120b APN 5 123115167 missense probably damaging 0.99
IGL03064:Tmem120b APN 5 123102273 missense possibly damaging 0.74
R3176:Tmem120b UTSW 5 123114104 missense probably damaging 1.00
R3276:Tmem120b UTSW 5 123114104 missense probably damaging 1.00
R5603:Tmem120b UTSW 5 123101642 missense possibly damaging 0.78
R5990:Tmem120b UTSW 5 123104481 missense probably damaging 1.00
R6102:Tmem120b UTSW 5 123115144 missense probably damaging 1.00
R6264:Tmem120b UTSW 5 123115700 missense probably damaging 1.00
R6577:Tmem120b UTSW 5 123116647 missense probably damaging 0.98
R6936:Tmem120b UTSW 5 123116224 missense possibly damaging 0.81
R7114:Tmem120b UTSW 5 123116678 missense probably damaging 1.00
R8169:Tmem120b UTSW 5 123099936 nonsense probably null
R8893:Tmem120b UTSW 5 123116239 missense not run
Posted On2012-04-20