Incidental Mutation 'IGL02168:Tmc3'
ID 282792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc3
Ensembl Gene ENSMUSG00000038540
Gene Name transmembrane channel-like gene family 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02168
Quality Score
Status
Chromosome 7
Chromosomal Location 83234135-83274822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83269203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 768 (N768I)
Ref Sequence ENSEMBL: ENSMUSP00000130348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039317
AA Change: N797I

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: N797I

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: N768I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: N768I

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: ENSMUST00000208892
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010007H06Rik T C 9: 51,191,801 (GRCm39) probably benign Het
6030468B19Rik T A 11: 117,689,244 (GRCm39) probably benign Het
Ankra2 G A 13: 98,409,882 (GRCm39) probably benign Het
Astn1 C A 1: 158,436,911 (GRCm39) A823E possibly damaging Het
Cfap43 T C 19: 47,740,362 (GRCm39) probably benign Het
Clec4b2 T A 6: 123,181,156 (GRCm39) N180K probably damaging Het
Col7a1 A G 9: 108,813,143 (GRCm39) probably benign Het
Dhrs7c T C 11: 67,706,693 (GRCm39) F284L probably benign Het
Dock1 T C 7: 134,678,860 (GRCm39) probably benign Het
Entpd5 A T 12: 84,433,752 (GRCm39) probably null Het
Heatr5b A T 17: 79,139,020 (GRCm39) probably benign Het
Kdm3a A G 6: 71,577,101 (GRCm39) V738A probably damaging Het
Klf10 A T 15: 38,297,085 (GRCm39) F318L probably damaging Het
Mcc A C 18: 44,582,366 (GRCm39) I770S probably damaging Het
Muc19 C T 15: 91,778,292 (GRCm39) noncoding transcript Het
Or9a4 A T 6: 40,548,317 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,635 (GRCm39) T1038A probably benign Het
Pole2 A G 12: 69,248,660 (GRCm39) probably benign Het
Polr2c A G 8: 95,584,394 (GRCm39) R36G probably damaging Het
Ptgs2 A G 1: 149,979,430 (GRCm39) probably null Het
Scart1 A T 7: 139,803,399 (GRCm39) H321L probably benign Het
Taf5 A G 19: 47,070,917 (GRCm39) D747G probably damaging Het
Tll1 T G 8: 64,507,001 (GRCm39) K580T possibly damaging Het
Top1 G T 2: 160,546,893 (GRCm39) probably null Het
Ubtf T C 11: 102,204,994 (GRCm39) K97E probably damaging Het
Vcl T C 14: 21,057,355 (GRCm39) V509A probably benign Het
Vmn2r110 A T 17: 20,804,062 (GRCm39) probably benign Het
Zfp106 A G 2: 120,364,712 (GRCm39) V565A possibly damaging Het
Zfp458 A T 13: 67,406,098 (GRCm39) C111S probably damaging 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
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
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
Posted On 2015-04-16