Incidental Mutation 'IGL00334:Tmem120b'
ID 6391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem120b
Ensembl Gene ENSMUSG00000054434
Gene Name transmembrane protein 120B
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL00334
Quality Score
Status
Chromosome 5
Chromosomal Location 123214329-123256276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123253230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 210 (E210D)
Ref Sequence ENSEMBL: ENSMUSP00000107246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031401] [ENSMUST00000067505] [ENSMUST00000111619] [ENSMUST00000160344] [ENSMUST00000160479] [ENSMUST00000186469] [ENSMUST00000161059]
AlphaFold Q3TA38
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: E249D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434
AA Change: E249D

DomainStartEndE-ValueType
Pfam:TMPIT 9 332 1.9e-158 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111619
AA Change: E210D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434
AA Change: E210D

DomainStartEndE-ValueType
Pfam:TMPIT 7 64 1.3e-14 PFAM
Pfam:TMPIT 60 298 1.3e-127 PFAM
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000161660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162208
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 probably benign
Transcript: ENSMUST00000161059
SMART Domains Protein: ENSMUSP00000124358
Gene: ENSMUSG00000054434

DomainStartEndE-ValueType
Pfam:TMPIT 7 106 3.2e-31 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsb T G 13: 94,075,787 (GRCm39) H423Q probably benign Het
Bltp2 T A 11: 78,160,400 (GRCm39) L620I possibly damaging Het
Ces1f T C 8: 93,994,620 (GRCm39) T264A probably benign Het
Clcn6 C A 4: 148,102,359 (GRCm39) probably null Het
Cyb5r3 C A 15: 83,044,605 (GRCm39) A138S probably benign Het
Cyp3a57 A T 5: 145,307,834 (GRCm39) N197Y probably damaging Het
Dctn2 A G 10: 127,113,559 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,821,566 (GRCm39) A1197T possibly damaging Het
Dock2 T C 11: 34,595,488 (GRCm39) D436G probably damaging Het
Drd4 A G 7: 140,872,096 (GRCm39) N49S probably damaging Het
Dst T A 1: 34,205,373 (GRCm39) V521D probably damaging Het
Eif5b T C 1: 38,080,800 (GRCm39) S714P probably damaging Het
Glis3 A G 19: 28,517,664 (GRCm39) I178T probably damaging Het
Gm11565 T A 11: 99,806,021 (GRCm39) C138S possibly damaging Het
H1f8 T A 6: 115,924,588 (GRCm39) probably benign Het
Hdx T A X: 110,492,578 (GRCm39) I623F probably benign Het
Huwe1 T G X: 150,668,623 (GRCm39) L843V probably damaging Het
Hyal2 T C 9: 107,447,604 (GRCm39) Y86H probably damaging Het
Irf7 A T 7: 140,844,553 (GRCm39) S157T probably benign Het
Jmjd4 T A 11: 59,346,140 (GRCm39) M331K probably damaging Het
Kdm2a A T 19: 4,406,926 (GRCm39) D112E possibly damaging Het
Mamdc2 A C 19: 23,356,138 (GRCm39) Y103* probably null Het
Map2k3 T C 11: 60,834,041 (GRCm39) V77A possibly damaging Het
Mideas G A 12: 84,219,629 (GRCm39) R442* probably null Het
Mprip T A 11: 59,639,417 (GRCm39) D403E probably benign Het
Mutyh T A 4: 116,676,516 (GRCm39) V496D possibly damaging Het
Nbeal1 T C 1: 60,321,042 (GRCm39) V2051A probably damaging Het
Nbeal1 T C 1: 60,367,262 (GRCm39) L2575P probably damaging Het
Or10j5 T G 1: 172,785,158 (GRCm39) S265R possibly damaging Het
Or51a6 T C 7: 102,604,311 (GRCm39) K173E probably benign Het
Pcdhb6 T A 18: 37,467,277 (GRCm39) I66N probably damaging Het
Pck2 T C 14: 55,780,098 (GRCm39) Y89H probably benign Het
Poglut3 T A 9: 53,309,330 (GRCm39) probably benign Het
Poglut3 C A 9: 53,309,328 (GRCm39) probably benign Het
Polr3e C T 7: 120,540,034 (GRCm39) Q594* probably null Het
Ptpro T G 6: 137,371,907 (GRCm39) probably null Het
Rfx4 A G 10: 84,615,917 (GRCm39) K28E possibly damaging Het
Shox2 T C 3: 66,888,774 (GRCm39) E39G possibly damaging Het
Slc22a16 A T 10: 40,449,930 (GRCm39) D122V probably benign Het
Smr3a A C 5: 88,155,919 (GRCm39) probably benign Het
Spmip8 G A 8: 96,039,676 (GRCm39) R31H probably damaging Het
Taf4 G T 2: 179,618,418 (GRCm39) L8M unknown Het
Tbkbp1 T A 11: 97,028,474 (GRCm39) probably benign Het
Trim21 C T 7: 102,208,805 (GRCm39) V305M probably damaging Het
Ube4a A T 9: 44,859,439 (GRCm39) L353Q probably damaging Het
Zfyve1 A T 12: 83,621,572 (GRCm39) N274K probably benign Het
Other mutations in Tmem120b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Tmem120b APN 5 123,253,229 (GRCm39) splice site probably null
IGL03064:Tmem120b APN 5 123,240,336 (GRCm39) missense possibly damaging 0.74
altogether UTSW 5 123,254,302 (GRCm39) missense probably damaging 1.00
R3176:Tmem120b UTSW 5 123,252,167 (GRCm39) missense probably damaging 1.00
R3276:Tmem120b UTSW 5 123,252,167 (GRCm39) missense probably damaging 1.00
R5603:Tmem120b UTSW 5 123,239,705 (GRCm39) missense possibly damaging 0.78
R5990:Tmem120b UTSW 5 123,242,544 (GRCm39) missense probably damaging 1.00
R6102:Tmem120b UTSW 5 123,253,207 (GRCm39) missense probably damaging 1.00
R6264:Tmem120b UTSW 5 123,253,763 (GRCm39) missense probably damaging 1.00
R6577:Tmem120b UTSW 5 123,254,710 (GRCm39) missense probably damaging 0.98
R6936:Tmem120b UTSW 5 123,254,287 (GRCm39) missense possibly damaging 0.81
R7114:Tmem120b UTSW 5 123,254,741 (GRCm39) missense probably damaging 1.00
R8169:Tmem120b UTSW 5 123,237,999 (GRCm39) nonsense probably null
R8893:Tmem120b UTSW 5 123,254,302 (GRCm39) missense probably damaging 1.00
R9067:Tmem120b UTSW 5 123,236,307 (GRCm39) missense probably damaging 1.00
R9159:Tmem120b UTSW 5 123,242,566 (GRCm39) missense possibly damaging 0.89
R9659:Tmem120b UTSW 5 123,253,788 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20