Incidental Mutation 'R6436:Tmc3'
ID 518776
Institutional Source Beutler Lab
Gene Symbol Tmc3
Ensembl Gene ENSMUSG00000038540
Gene Name transmembrane channel-like gene family 3
Synonyms
MMRRC Submission 044574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6436 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 83234135-83274822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83247695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 230 (Y230H)
Ref Sequence ENSEMBL: ENSMUSP00000130348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039317
AA Change: Y230H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: Y230H

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 damaging
Transcript: ENSMUST00000164944
AA Change: Y230H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: Y230H

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 0.6312 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.5%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc C A 15: 74,544,098 (GRCm39) V42L possibly damaging Het
Clip1 C T 5: 123,779,848 (GRCm39) E433K probably damaging Het
Cmya5 T C 13: 93,225,723 (GRCm39) T3122A probably damaging Het
Ctf2 G T 7: 127,318,603 (GRCm39) A92E probably damaging Het
Ctsw G T 19: 5,516,322 (GRCm39) R184S possibly damaging Het
D130043K22Rik A G 13: 25,061,918 (GRCm39) E629G probably damaging Het
Dmbt1 T C 7: 130,718,370 (GRCm39) V1523A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fanci T C 7: 79,090,446 (GRCm39) I982T probably benign Het
Fnbp1 T C 2: 30,986,139 (GRCm39) D3G probably damaging Het
Gm10770 G A 2: 150,020,830 (GRCm39) T229I probably benign Het
Gm35315 G A 5: 110,226,578 (GRCm39) T287I probably benign Het
Itgb3 T A 11: 104,524,318 (GRCm39) D151E probably damaging Het
Lcn8 A T 2: 25,544,990 (GRCm39) probably null Het
Ninl A G 2: 150,808,098 (GRCm39) L310P probably damaging Het
Nop2 A G 6: 125,114,274 (GRCm39) D215G probably benign Het
Or4d10c T C 19: 12,065,299 (GRCm39) T286A probably benign Het
Or6c3 A G 10: 129,308,773 (GRCm39) T71A probably damaging Het
Parg T C 14: 31,993,634 (GRCm39) W289R probably damaging Het
Pdcd4 A G 19: 53,915,362 (GRCm39) probably null Het
Plk2 G T 13: 110,532,570 (GRCm39) E95* probably null Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Ptprc T C 1: 138,011,377 (GRCm39) D560G possibly damaging Het
Rasal3 T C 17: 32,616,478 (GRCm39) Y290C probably damaging Het
Rcsd1 T A 1: 165,485,184 (GRCm39) S90C probably damaging Het
Rttn T C 18: 89,128,853 (GRCm39) L1935P probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tnfrsf25 A T 4: 152,204,084 (GRCm39) probably null Het
Ubl7 T C 9: 57,827,793 (GRCm39) L160P probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp646 T A 7: 127,479,113 (GRCm39) V430E probably benign 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
R5767:Tmc3 UTSW 7 83,249,190 (GRCm39) missense probably benign 0.43
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
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'- CTGACTACACCCAGACCTTG -3'
(R):5'- TCAGCATACAGTAAGTGCTGG -3'

Sequencing Primer
(F):5'- CCTTGCGGGAGAGCTGAAG -3'
(R):5'- CATACAGTAAGTGCTGGCTAAAC -3'
Posted On 2018-05-24