Incidental Mutation 'R5767:Tmc3'
ID 446327
Institutional Source Beutler Lab
Gene Symbol Tmc3
Ensembl Gene ENSMUSG00000038540
Gene Name transmembrane channel-like gene family 3
Synonyms
MMRRC Submission 043367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5767 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83234135-83274822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83249190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 260 (A260T)
Ref Sequence ENSEMBL: ENSMUSP00000130348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039317
AA Change: A260T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: A260T

DomainStartEndE-ValueType
transmembrane domain 143 165 N/A INTRINSIC
transmembrane domain 195 214 N/A INTRINSIC
transmembrane domain 227 246 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
transmembrane domain 362 381 N/A INTRINSIC
transmembrane domain 396 415 N/A INTRINSIC
Pfam:TMC 500 615 5e-42 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 1071 1089 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163297
Predicted Effect probably benign
Transcript: ENSMUST00000164944
AA Change: A260T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: A260T

DomainStartEndE-ValueType
transmembrane domain 143 165 N/A INTRINSIC
transmembrane domain 195 214 N/A INTRINSIC
transmembrane domain 227 246 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
transmembrane domain 362 381 N/A INTRINSIC
transmembrane domain 396 415 N/A INTRINSIC
Pfam:TMC 500 615 1.1e-45 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 1042 1060 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171397
Meta Mutation Damage Score 0.1186 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 A T 10: 89,562,617 (GRCm39) D87E probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 37,461,383 (GRCm39) probably null Het
Ano3 A T 2: 110,491,616 (GRCm39) Y887N probably damaging Het
Arid4a A G 12: 71,106,867 (GRCm39) D313G probably damaging Het
Armc2 A G 10: 41,887,923 (GRCm39) V20A probably benign Het
Bltp3b A G 10: 89,623,061 (GRCm39) D312G possibly damaging Het
C2 T A 17: 35,095,432 (GRCm39) N171I possibly damaging Het
Cdh1 C A 8: 107,395,187 (GRCm39) N865K probably damaging Het
Cep89 T A 7: 35,117,070 (GRCm39) V224E probably damaging Het
Cfap251 G A 5: 123,436,584 (GRCm39) V1038I probably benign Het
Dennd2d C T 3: 106,395,131 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,408 (GRCm39) K1157N probably damaging Het
Dsg4 T A 18: 20,595,549 (GRCm39) L584* probably null Het
Exoc4 G A 6: 33,895,367 (GRCm39) A795T probably benign Het
Fbln5 A T 12: 101,731,468 (GRCm39) I242N probably damaging Het
Gls2 A G 10: 128,041,090 (GRCm39) H394R probably damaging Het
Gm27013 C T 6: 130,652,921 (GRCm39) C847Y possibly damaging Het
Ifna5 C A 4: 88,754,036 (GRCm39) T92K possibly damaging Het
Ireb2 A G 9: 54,807,800 (GRCm39) M674V probably benign Het
Itga2 C T 13: 114,976,106 (GRCm39) V1089M possibly damaging Het
Kctd16 A T 18: 40,391,922 (GRCm39) Y170F probably benign Het
Kif15 A G 9: 122,843,039 (GRCm39) N45D possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mink1 A G 11: 70,496,901 (GRCm39) K420E possibly damaging Het
Ms4a14 G T 19: 11,279,391 (GRCm39) Q1056K probably benign Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or5k8 T C 16: 58,644,316 (GRCm39) Y252C probably benign Het
Or8k21 T A 2: 86,144,742 (GRCm39) E296V probably damaging Het
Ovch2 T C 7: 107,381,185 (GRCm39) E571G probably benign Het
Pmel T C 10: 128,550,250 (GRCm39) V95A probably damaging Het
Ptger2 G T 14: 45,226,599 (GRCm39) G60C probably benign Het
Ranbp2 T G 10: 58,312,647 (GRCm39) S1122R probably benign Het
Rasal2 T C 1: 157,003,732 (GRCm39) D309G probably damaging Het
Rcc2 T A 4: 140,443,230 (GRCm39) C303S probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpini1 C T 3: 75,520,388 (GRCm39) probably benign Het
Sgo2a G T 1: 58,058,819 (GRCm39) E1133* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smarcc1 G A 9: 109,961,251 (GRCm39) probably benign Het
Tbcd A G 11: 121,483,518 (GRCm39) E749G probably benign Het
Tnfrsf21 A G 17: 43,348,550 (GRCm39) Y54C probably damaging Het
Urb1 T A 16: 90,573,051 (GRCm39) M994L probably benign Het
Usp14 A T 18: 10,009,935 (GRCm39) probably benign Het
Vps13a T C 19: 16,641,928 (GRCm39) Y2233C probably damaging Het
Wnt2 G T 6: 17,990,027 (GRCm39) A290E probably damaging Het
Zc3h8 A T 2: 128,772,812 (GRCm39) C225* probably null Het
Other mutations in Tmc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Tmc3 APN 7 83,252,682 (GRCm39) missense probably null 1.00
IGL01372:Tmc3 APN 7 83,261,746 (GRCm39) missense probably damaging 1.00
IGL02072:Tmc3 APN 7 83,265,148 (GRCm39) missense probably benign 0.00
IGL02168:Tmc3 APN 7 83,269,203 (GRCm39) missense possibly damaging 0.87
IGL02344:Tmc3 APN 7 83,258,302 (GRCm39) missense probably benign 0.00
IGL02421:Tmc3 APN 7 83,271,952 (GRCm39) missense probably benign
IGL02604:Tmc3 APN 7 83,271,827 (GRCm39) missense possibly damaging 0.85
IGL02863:Tmc3 APN 7 83,271,493 (GRCm39) missense possibly damaging 0.61
IGL02863:Tmc3 APN 7 83,271,494 (GRCm39) missense probably benign 0.04
IGL03058:Tmc3 APN 7 83,265,094 (GRCm39) missense possibly damaging 0.91
IGL03303:Tmc3 APN 7 83,239,933 (GRCm39) splice site probably benign
F5770:Tmc3 UTSW 7 83,271,713 (GRCm39) missense probably benign 0.01
R0133:Tmc3 UTSW 7 83,261,681 (GRCm39) missense probably damaging 1.00
R0147:Tmc3 UTSW 7 83,256,950 (GRCm39) missense probably damaging 1.00
R0304:Tmc3 UTSW 7 83,245,347 (GRCm39) missense probably damaging 1.00
R0320:Tmc3 UTSW 7 83,257,027 (GRCm39) splice site probably benign
R0478:Tmc3 UTSW 7 83,271,360 (GRCm39) missense possibly damaging 0.66
R0714:Tmc3 UTSW 7 83,265,969 (GRCm39) missense possibly damaging 0.94
R1471:Tmc3 UTSW 7 83,247,498 (GRCm39) missense probably damaging 1.00
R1725:Tmc3 UTSW 7 83,253,940 (GRCm39) missense probably damaging 1.00
R1775:Tmc3 UTSW 7 83,261,740 (GRCm39) missense probably benign 0.39
R2176:Tmc3 UTSW 7 83,258,516 (GRCm39) missense probably damaging 1.00
R4001:Tmc3 UTSW 7 83,269,271 (GRCm39) missense probably benign 0.01
R4229:Tmc3 UTSW 7 83,246,610 (GRCm39) intron probably benign
R4635:Tmc3 UTSW 7 83,234,290 (GRCm39) unclassified probably benign
R4715:Tmc3 UTSW 7 83,271,604 (GRCm39) missense probably benign 0.05
R4789:Tmc3 UTSW 7 83,271,746 (GRCm39) missense probably damaging 0.99
R4998:Tmc3 UTSW 7 83,271,529 (GRCm39) missense probably benign 0.16
R5044:Tmc3 UTSW 7 83,258,326 (GRCm39) missense probably benign 0.00
R5108:Tmc3 UTSW 7 83,269,156 (GRCm39) missense probably damaging 0.97
R5119:Tmc3 UTSW 7 83,264,218 (GRCm39) missense probably damaging 1.00
R5428:Tmc3 UTSW 7 83,261,755 (GRCm39) missense probably damaging 1.00
R5447:Tmc3 UTSW 7 83,271,569 (GRCm39) missense possibly damaging 0.63
R5801:Tmc3 UTSW 7 83,271,686 (GRCm39) missense possibly damaging 0.94
R6115:Tmc3 UTSW 7 83,264,170 (GRCm39) missense possibly damaging 0.47
R6193:Tmc3 UTSW 7 83,252,543 (GRCm39) missense probably benign 0.26
R6436:Tmc3 UTSW 7 83,247,695 (GRCm39) missense probably damaging 1.00
R6478:Tmc3 UTSW 7 83,271,524 (GRCm39) missense probably benign 0.31
R6648:Tmc3 UTSW 7 83,246,751 (GRCm39) missense probably damaging 1.00
R6849:Tmc3 UTSW 7 83,235,565 (GRCm39) missense probably damaging 1.00
R7030:Tmc3 UTSW 7 83,266,025 (GRCm39) splice site probably null
R7085:Tmc3 UTSW 7 83,271,353 (GRCm39) missense possibly damaging 0.88
R7574:Tmc3 UTSW 7 83,247,481 (GRCm39) missense probably damaging 0.99
R7685:Tmc3 UTSW 7 83,246,666 (GRCm39) missense probably damaging 1.00
R7888:Tmc3 UTSW 7 83,249,217 (GRCm39) missense probably damaging 1.00
R8474:Tmc3 UTSW 7 83,259,122 (GRCm39) missense probably damaging 1.00
R8961:Tmc3 UTSW 7 83,256,970 (GRCm39) missense probably damaging 1.00
R9286:Tmc3 UTSW 7 83,252,643 (GRCm39) missense probably damaging 0.96
V7581:Tmc3 UTSW 7 83,271,713 (GRCm39) missense probably benign 0.01
Z1088:Tmc3 UTSW 7 83,252,676 (GRCm39) missense probably damaging 1.00
Z1188:Tmc3 UTSW 7 83,261,686 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTCCACACAGGTAAAGGATGG -3'
(R):5'- GAGAACAGTACTGGTTCTGCC -3'

Sequencing Primer
(F):5'- CTATGGTTAAAGTCCAGCCAGTGC -3'
(R):5'- TGGTTCTGCCAGCAGGG -3'
Posted On 2016-11-21