Incidental Mutation 'R4001:Tmc3'
ID 312473
Institutional Source Beutler Lab
Gene Symbol Tmc3
Ensembl Gene ENSMUSG00000038540
Gene Name transmembrane channel-like gene family 3
Synonyms
MMRRC Submission 040844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4001 (G1)
Quality Score 202
Status Validated
Chromosome 7
Chromosomal Location 83234135-83274822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83269271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 820 (S820P)
Ref Sequence ENSEMBL: ENSMUSP00000046028 (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: S820P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: S820P

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: S791P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: S791P

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
Meta Mutation Damage Score 0.0752 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (28/28)
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C A 8: 111,768,234 (GRCm39) H202N probably damaging Het
Aipl1 T A 11: 71,922,428 (GRCm39) T94S probably damaging Het
Cdhr2 A T 13: 54,866,079 (GRCm39) E293V probably benign Het
Chd9 C T 8: 91,683,185 (GRCm39) R542C probably damaging Het
Clip4 A T 17: 72,106,071 (GRCm39) I85L probably damaging Het
Cntnap5c G A 17: 58,714,735 (GRCm39) probably null Het
Fbn1 A G 2: 125,319,415 (GRCm39) probably null Het
Hivep2 A G 10: 14,003,476 (GRCm39) R25G probably damaging Het
Klhdc7b A G 15: 89,272,187 (GRCm39) N1023S probably damaging Het
Lipi T A 16: 75,370,759 (GRCm39) R153* probably null Het
Lpcat4 A T 2: 112,070,296 (GRCm39) Q3L probably benign Het
Naa16 C A 14: 79,580,561 (GRCm39) probably null Het
Nalcn G T 14: 123,834,006 (GRCm39) N56K probably damaging Het
Obscn C G 11: 59,025,395 (GRCm39) A412P probably damaging Het
Or1e23 A G 11: 73,407,812 (GRCm39) L71P probably damaging Het
Pde8a T A 7: 80,967,104 (GRCm39) L415Q probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Rbms2 C T 10: 127,987,169 (GRCm39) S13N probably benign Het
Rgsl1 A G 1: 153,693,330 (GRCm39) L617P probably damaging Het
Sap18b T C 8: 96,552,068 (GRCm39) V26A probably benign Het
Senp2 T C 16: 21,847,318 (GRCm39) L282P possibly damaging Het
Srcap T C 7: 127,131,339 (GRCm39) M826T probably damaging Het
Tmprss3 T C 17: 31,405,533 (GRCm39) N353S probably damaging Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Trp53bp1 A G 2: 121,035,566 (GRCm39) S1562P probably damaging Het
Uaca G A 9: 60,778,366 (GRCm39) V916I 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
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'- GGTTCAATGCACAGCAAACC -3'
(R):5'- TAAGGACCTCAGCCTCCTAATG -3'

Sequencing Primer
(F):5'- ACCTGGACATGTCACCTGC -3'
(R):5'- AATGGTTCTGGTCCACCACTGG -3'
Posted On 2015-04-29