Incidental Mutation 'IGL01372:Tmc3'
ID76170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmc3
Ensembl Gene ENSMUSG00000038540
Gene Nametransmembrane channel-like gene family 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01372
Quality Score
Status
Chromosome7
Chromosomal Location83584927-83625614 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83612538 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 608 (H608R)
Ref Sequence ENSEMBL: ENSMUSP00000130348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]
Predicted Effect probably damaging
Transcript: ENSMUST00000039317
AA Change: H608R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: H608R

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: H608R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: H608R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A G 3: 91,088,309 probably benign Het
Abca7 G A 10: 80,006,255 D1049N probably benign Het
Ankdd1a A T 9: 65,504,139 L362Q probably damaging Het
Ankib1 A T 5: 3,772,594 N37K probably damaging Het
Ankrd55 T A 13: 112,323,143 D90E probably damaging Het
Atp1a2 T C 1: 172,278,943 R831G probably damaging Het
Bcar3 A G 3: 122,523,294 D638G probably damaging Het
Cabp4 T A 19: 4,139,323 E78D probably benign Het
Cmtm8 A G 9: 114,790,687 V130A possibly damaging Het
Cyth3 A G 5: 143,692,638 T66A possibly damaging Het
Dmbt1 A T 7: 131,103,679 I1171F possibly damaging Het
Dnah10 G A 5: 124,779,154 G2060D probably damaging Het
Dnah11 T C 12: 118,192,399 H172R probably damaging Het
Dnah5 C T 15: 28,230,490 A178V probably benign Het
Efcab6 T G 15: 84,044,304 M30L possibly damaging Het
Ehbp1l1 T C 19: 5,715,789 probably benign Het
Eps15 G A 4: 109,322,106 E230K probably damaging Het
Fam91a1 A G 15: 58,430,062 I258M probably damaging Het
Gm5581 G A 6: 131,168,403 noncoding transcript Het
Hrh1 G A 6: 114,479,997 V80I probably damaging Het
Ldhd G A 8: 111,628,400 H290Y probably benign Het
Lepr G A 4: 101,735,577 E130K possibly damaging Het
Mycbpap T C 11: 94,506,456 I40V possibly damaging Het
Nrap T A 19: 56,329,102 probably null Het
Olfr206 A G 16: 59,345,161 I180T probably damaging Het
Olfr342 T A 2: 36,527,451 I13N probably benign Het
Opn5 T A 17: 42,580,544 probably null Het
Otop3 A T 11: 115,345,104 T521S possibly damaging Het
Pcsk5 T G 19: 17,617,744 T409P probably damaging Het
Pde9a T A 17: 31,461,711 F322Y probably benign Het
Pgm5 T A 19: 24,733,621 I406F probably damaging Het
Prrc2b T C 2: 32,223,930 S1998P probably damaging Het
Prune2 T C 19: 17,125,069 Y2531H probably damaging Het
Ptprk T C 10: 28,569,927 V932A probably benign Het
Rapgef6 T A 11: 54,668,611 probably benign Het
Rgsl1 T A 1: 153,826,141 Y224F probably damaging Het
Rps6kl1 A T 12: 85,146,889 C143S probably damaging Het
Slc5a5 G A 8: 70,890,376 probably benign Het
Tfb2m A G 1: 179,542,313 S182P probably damaging Het
Trim37 T A 11: 87,184,946 H459Q probably benign Het
Vmn2r71 A T 7: 85,620,814 probably benign Het
Xirp2 T C 2: 67,513,990 S2192P possibly damaging Het
Other mutations in Tmc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Tmc3 APN 7 83603474 missense probably null 1.00
IGL02072:Tmc3 APN 7 83615940 missense probably benign 0.00
IGL02168:Tmc3 APN 7 83619995 missense possibly damaging 0.87
IGL02344:Tmc3 APN 7 83609094 missense probably benign 0.00
IGL02421:Tmc3 APN 7 83622744 missense probably benign
IGL02604:Tmc3 APN 7 83622619 missense possibly damaging 0.85
IGL02863:Tmc3 APN 7 83622286 missense probably benign 0.04
IGL02863:Tmc3 APN 7 83622285 missense possibly damaging 0.61
IGL03058:Tmc3 APN 7 83615886 missense possibly damaging 0.91
IGL03303:Tmc3 APN 7 83590725 splice site probably benign
F5770:Tmc3 UTSW 7 83622505 missense probably benign 0.01
R0133:Tmc3 UTSW 7 83612473 missense probably damaging 1.00
R0147:Tmc3 UTSW 7 83607742 missense probably damaging 1.00
R0304:Tmc3 UTSW 7 83596139 missense probably damaging 1.00
R0320:Tmc3 UTSW 7 83607819 splice site probably benign
R0478:Tmc3 UTSW 7 83622152 missense possibly damaging 0.66
R0714:Tmc3 UTSW 7 83616761 missense possibly damaging 0.94
R1471:Tmc3 UTSW 7 83598290 missense probably damaging 1.00
R1725:Tmc3 UTSW 7 83604732 missense probably damaging 1.00
R1775:Tmc3 UTSW 7 83612532 missense probably benign 0.39
R2176:Tmc3 UTSW 7 83609308 missense probably damaging 1.00
R4001:Tmc3 UTSW 7 83620063 missense probably benign 0.01
R4229:Tmc3 UTSW 7 83597402 intron probably benign
R4635:Tmc3 UTSW 7 83585082 unclassified probably benign
R4715:Tmc3 UTSW 7 83622396 missense probably benign 0.05
R4789:Tmc3 UTSW 7 83622538 missense probably damaging 0.99
R4998:Tmc3 UTSW 7 83622321 missense probably benign 0.16
R5044:Tmc3 UTSW 7 83609118 missense probably benign 0.00
R5108:Tmc3 UTSW 7 83619948 missense probably damaging 0.97
R5119:Tmc3 UTSW 7 83615010 missense probably damaging 1.00
R5428:Tmc3 UTSW 7 83612547 missense probably damaging 1.00
R5447:Tmc3 UTSW 7 83622361 missense possibly damaging 0.63
R5767:Tmc3 UTSW 7 83599982 missense probably benign 0.43
R5801:Tmc3 UTSW 7 83622478 missense possibly damaging 0.94
R6115:Tmc3 UTSW 7 83614962 missense possibly damaging 0.47
R6193:Tmc3 UTSW 7 83603335 missense probably benign 0.26
R6436:Tmc3 UTSW 7 83598487 missense probably damaging 1.00
R6478:Tmc3 UTSW 7 83622316 missense probably benign 0.31
R6648:Tmc3 UTSW 7 83597543 missense probably damaging 1.00
R6849:Tmc3 UTSW 7 83586357 missense probably damaging 1.00
R7085:Tmc3 UTSW 7 83622145 missense possibly damaging 0.88
V7581:Tmc3 UTSW 7 83622505 missense probably benign 0.01
Z1088:Tmc3 UTSW 7 83603468 missense probably damaging 1.00
Posted On2013-10-07