Incidental Mutation 'R0147:Tmc3'
ID 22619
Institutional Source Beutler Lab
Gene Symbol Tmc3
Ensembl Gene ENSMUSG00000038540
Gene Name transmembrane channel-like gene family 3
Synonyms
MMRRC Submission 038431-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0147 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 83234135-83274822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83256950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 401 (V401A)
Ref Sequence ENSEMBL: ENSMUSP00000046028 (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: V401A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: V401A

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 possibly damaging
Transcript: ENSMUST00000164944
AA Change: V401A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: V401A

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
Meta Mutation Damage Score 0.1505 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.1%
Validation Efficiency 67% (88/131)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Abtb2 A G 2: 103,397,480 (GRCm39) I137V probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Arl6 T C 16: 59,439,153 (GRCm39) probably benign Het
Avl9 T A 6: 56,713,487 (GRCm39) D248E probably benign Het
Becn1 T C 11: 101,192,562 (GRCm39) E40G probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Btbd16 C T 7: 130,381,324 (GRCm39) T19I probably damaging Het
Casc3 T A 11: 98,713,325 (GRCm39) N246K possibly damaging Het
Celf1 G T 2: 90,835,035 (GRCm39) probably benign Het
Chrm3 G T 13: 9,928,780 (GRCm39) N85K probably damaging Het
Cluh T A 11: 74,556,764 (GRCm39) Y935N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a5 T C 9: 105,802,993 (GRCm39) D1324G unknown Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
D630003M21Rik C T 2: 158,044,987 (GRCm39) probably benign Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dnmt3b T G 2: 153,503,377 (GRCm39) N9K possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fam98c T A 7: 28,852,146 (GRCm39) R340* probably null Het
Fbxw10 T G 11: 62,738,307 (GRCm39) probably null Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Gm28042 T A 2: 119,866,944 (GRCm39) S196T probably benign Het
Grid2 T C 6: 64,510,571 (GRCm39) Y734H probably benign Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Hectd3 T C 4: 116,854,237 (GRCm39) probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Ip6k1 T A 9: 107,923,093 (GRCm39) D408E probably damaging Het
Irs2 A T 8: 11,057,568 (GRCm39) M288K probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Knop1 C A 7: 118,445,061 (GRCm39) R301L probably benign Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mprip T A 11: 59,627,899 (GRCm39) D93E possibly damaging Het
Mtmr14 T A 6: 113,237,627 (GRCm39) probably benign Het
Muc5ac T C 7: 141,364,776 (GRCm39) S1917P probably benign Het
Muc6 C T 7: 141,238,255 (GRCm39) C75Y probably damaging Het
Naip1 A T 13: 100,563,418 (GRCm39) H582Q possibly damaging Het
Nbeal2 G A 9: 110,471,211 (GRCm39) R264* probably null Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nsmce2 T G 15: 59,250,806 (GRCm39) S26A probably damaging Het
Or52s19 T C 7: 103,007,613 (GRCm39) T263A possibly damaging Het
Or5m13b T A 2: 85,754,362 (GRCm39) I250N possibly damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pax1 A G 2: 147,215,654 (GRCm39) S424G probably benign Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Plxna1 C T 6: 89,297,692 (GRCm39) A1831T possibly damaging Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Pygo2 T C 3: 89,340,610 (GRCm39) V299A probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rmc1 C T 18: 12,322,328 (GRCm39) R594C probably damaging Het
Rnf13 A G 3: 57,709,889 (GRCm39) D144G probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Sec23ip C T 7: 128,380,775 (GRCm39) probably benign Het
Slc25a26 T A 6: 94,569,507 (GRCm39) probably null Het
Slc6a7 A G 18: 61,135,183 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,562 (GRCm39) noncoding transcript Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Spata22 T A 11: 73,221,979 (GRCm39) M1K probably null Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tasor A G 14: 27,193,725 (GRCm39) D975G probably benign Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tm9sf4 G T 2: 153,037,233 (GRCm39) V365L probably benign Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Unc5b A T 10: 60,608,076 (GRCm39) S675T probably damaging Het
Vmn1r217 A G 13: 23,298,107 (GRCm39) M265T probably benign Het
Vps54 T A 11: 21,250,259 (GRCm39) D548E probably benign Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfp710 T A 7: 79,731,721 (GRCm39) C299* 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
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
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'- GCCTGTGGCTTTTCAATGACAGC -3'
(R):5'- TAGGGGCACTTTGTGGGGAACAAC -3'

Sequencing Primer
(F):5'- TTTTCAATGACAGCACAAAGAAAGC -3'
(R):5'- GAGGTTGACTATCCAGTCTGAAC -3'
Posted On 2013-04-16