Incidental Mutation 'R0786:Tmc5'
ID 76858
Institutional Source Beutler Lab
Gene Symbol Tmc5
Ensembl Gene ENSMUSG00000030650
Gene Name transmembrane channel-like gene family 5
Synonyms 4932443L08Rik
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 118196520-118274308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118226433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 266 (I266T)
Ref Sequence ENSEMBL: ENSMUSP00000114137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098088] [ENSMUST00000121715] [ENSMUST00000121744] [ENSMUST00000155572]
AlphaFold Q32NZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000098088
AA Change: I266T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: I266T

DomainStartEndE-ValueType
internal_repeat_1 7 105 2.08e-10 PROSPERO
internal_repeat_2 10 108 2.75e-10 PROSPERO
internal_repeat_2 127 234 2.75e-10 PROSPERO
internal_repeat_1 152 266 2.08e-10 PROSPERO
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 618 640 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
Pfam:TMC 686 791 1.2e-42 PFAM
transmembrane domain 796 818 N/A INTRINSIC
transmembrane domain 862 884 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121715
AA Change: I266T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: I266T

DomainStartEndE-ValueType
internal_repeat_1 7 105 2.08e-10 PROSPERO
internal_repeat_2 10 108 2.75e-10 PROSPERO
internal_repeat_2 127 234 2.75e-10 PROSPERO
internal_repeat_1 152 266 2.08e-10 PROSPERO
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 618 640 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
Pfam:TMC 686 791 1.1e-43 PFAM
transmembrane domain 796 818 N/A INTRINSIC
transmembrane domain 862 884 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121744
AA Change: I266T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: I266T

DomainStartEndE-ValueType
internal_repeat_1 7 105 2.08e-10 PROSPERO
internal_repeat_2 10 108 2.75e-10 PROSPERO
internal_repeat_2 127 234 2.75e-10 PROSPERO
internal_repeat_1 152 266 2.08e-10 PROSPERO
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 581 603 N/A INTRINSIC
transmembrane domain 618 640 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
Pfam:TMC 686 791 1.1e-43 PFAM
transmembrane domain 796 818 N/A INTRINSIC
transmembrane domain 862 884 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155572
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Tmc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Tmc5 APN 7 118,256,010 (GRCm39) missense probably damaging 1.00
IGL01601:Tmc5 APN 7 118,223,047 (GRCm39) unclassified probably benign
IGL01633:Tmc5 APN 7 118,222,809 (GRCm39) missense probably damaging 0.97
IGL01845:Tmc5 APN 7 118,251,733 (GRCm39) missense possibly damaging 0.93
IGL02148:Tmc5 APN 7 118,244,547 (GRCm39) missense probably damaging 0.97
IGL02638:Tmc5 APN 7 118,226,456 (GRCm39) missense probably benign 0.36
IGL02890:Tmc5 APN 7 118,244,653 (GRCm39) splice site probably benign
hipster UTSW 7 118,265,834 (GRCm39) critical splice donor site probably null
F5426:Tmc5 UTSW 7 118,222,546 (GRCm39) missense probably benign
PIT4802001:Tmc5 UTSW 7 118,271,449 (GRCm39) missense probably benign
R0068:Tmc5 UTSW 7 118,233,460 (GRCm39) missense probably benign 0.44
R0470:Tmc5 UTSW 7 118,239,154 (GRCm39) missense possibly damaging 0.68
R0520:Tmc5 UTSW 7 118,265,799 (GRCm39) missense probably damaging 1.00
R1263:Tmc5 UTSW 7 118,266,093 (GRCm39) missense probably damaging 1.00
R1269:Tmc5 UTSW 7 118,265,816 (GRCm39) missense probably benign 0.30
R1486:Tmc5 UTSW 7 118,272,655 (GRCm39) missense probably benign 0.02
R1702:Tmc5 UTSW 7 118,271,462 (GRCm39) missense probably benign 0.00
R2188:Tmc5 UTSW 7 118,254,178 (GRCm39) missense probably damaging 1.00
R3508:Tmc5 UTSW 7 118,244,618 (GRCm39) missense probably benign 0.01
R3893:Tmc5 UTSW 7 118,244,592 (GRCm39) missense probably damaging 1.00
R3927:Tmc5 UTSW 7 118,251,878 (GRCm39) nonsense probably null
R4171:Tmc5 UTSW 7 118,248,810 (GRCm39) missense probably damaging 0.99
R4279:Tmc5 UTSW 7 118,273,886 (GRCm39) makesense probably null
R4554:Tmc5 UTSW 7 118,269,956 (GRCm39) missense probably benign 0.16
R4555:Tmc5 UTSW 7 118,269,956 (GRCm39) missense probably benign 0.16
R4557:Tmc5 UTSW 7 118,269,956 (GRCm39) missense probably benign 0.16
R4833:Tmc5 UTSW 7 118,228,052 (GRCm39) missense probably benign 0.11
R4845:Tmc5 UTSW 7 118,241,604 (GRCm39) missense probably damaging 1.00
R4852:Tmc5 UTSW 7 118,244,562 (GRCm39) missense probably benign 0.32
R5087:Tmc5 UTSW 7 118,244,609 (GRCm39) missense possibly damaging 0.68
R5214:Tmc5 UTSW 7 118,247,155 (GRCm39) missense probably damaging 1.00
R5723:Tmc5 UTSW 7 118,271,416 (GRCm39) missense probably damaging 1.00
R5739:Tmc5 UTSW 7 118,265,834 (GRCm39) critical splice donor site probably null
R5882:Tmc5 UTSW 7 118,254,142 (GRCm39) missense probably damaging 0.99
R5946:Tmc5 UTSW 7 118,269,948 (GRCm39) missense probably damaging 1.00
R6244:Tmc5 UTSW 7 118,233,437 (GRCm39) missense possibly damaging 0.93
R6360:Tmc5 UTSW 7 118,233,189 (GRCm39) start codon destroyed probably null 1.00
R6375:Tmc5 UTSW 7 118,256,037 (GRCm39) missense probably damaging 1.00
R6458:Tmc5 UTSW 7 118,244,539 (GRCm39) missense probably damaging 1.00
R6566:Tmc5 UTSW 7 118,247,067 (GRCm39) missense probably damaging 1.00
R6681:Tmc5 UTSW 7 118,268,527 (GRCm39) missense probably damaging 1.00
R7202:Tmc5 UTSW 7 118,239,179 (GRCm39) missense possibly damaging 0.49
R7227:Tmc5 UTSW 7 118,269,889 (GRCm39) missense possibly damaging 0.81
R7410:Tmc5 UTSW 7 118,222,820 (GRCm39) nonsense probably null
R7562:Tmc5 UTSW 7 118,222,549 (GRCm39) missense probably benign 0.10
R7808:Tmc5 UTSW 7 118,268,440 (GRCm39) missense probably damaging 1.00
R8560:Tmc5 UTSW 7 118,268,514 (GRCm39) missense probably damaging 1.00
R8682:Tmc5 UTSW 7 118,269,925 (GRCm39) missense possibly damaging 0.77
R8778:Tmc5 UTSW 7 118,222,816 (GRCm39) missense unknown
R8832:Tmc5 UTSW 7 118,222,332 (GRCm39) missense probably benign 0.06
R9026:Tmc5 UTSW 7 118,241,594 (GRCm39) missense possibly damaging 0.92
R9064:Tmc5 UTSW 7 118,233,270 (GRCm39) missense probably benign 0.01
R9159:Tmc5 UTSW 7 118,233,264 (GRCm39) missense probably benign
R9258:Tmc5 UTSW 7 118,222,501 (GRCm39) missense probably benign 0.00
Z1177:Tmc5 UTSW 7 118,222,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTAGTGAGACTTTCTGCCACTGT -3'
(R):5'- AGAGGTCGTCTATCTGCTGGAGGA -3'

Sequencing Primer
(F):5'- gggagggaagaagggagg -3'
(R):5'- CTATCTGCTGGAGGAGGAGTC -3'
Posted On 2013-10-16