Incidental Mutation 'R0243:Tmtc1'
ID 37851
Institutional Source Beutler Lab
Gene Symbol Tmtc1
Ensembl Gene ENSMUSG00000030306
Gene Name transmembrane and tetratricopeptide repeat containing 1
Synonyms
MMRRC Submission 038481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R0243 (G1)
Quality Score 127
Status Validated
Chromosome 6
Chromosomal Location 148133928-148345887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148148335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 711 (L711Q)
Ref Sequence ENSEMBL: ENSMUSP00000098335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060095] [ENSMUST00000100772] [ENSMUST00000140797]
AlphaFold Q3UV71
Predicted Effect probably damaging
Transcript: ENSMUST00000060095
AA Change: L749Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: L749Q

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 111 130 N/A INTRINSIC
transmembrane domain 142 164 N/A INTRINSIC
low complexity region 170 180 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
low complexity region 250 269 N/A INTRINSIC
transmembrane domain 328 350 N/A INTRINSIC
Pfam:DUF1736 351 425 1.3e-33 PFAM
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 494 516 N/A INTRINSIC
TPR 543 576 2.42e-3 SMART
TPR 577 607 8.76e-1 SMART
TPR 608 641 1.69e-2 SMART
TPR 642 675 1.28e-2 SMART
TPR 676 709 4.31e0 SMART
TPR 710 743 1.11e-2 SMART
TPR 744 776 4.62e0 SMART
TPR 811 844 1.1e-1 SMART
TPR 849 882 4.45e-2 SMART
TPR 883 916 1.05e-3 SMART
low complexity region 926 941 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100772
AA Change: L711Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: L711Q

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 111 130 N/A INTRINSIC
transmembrane domain 142 164 N/A INTRINSIC
low complexity region 170 180 N/A INTRINSIC
transmembrane domain 195 217 N/A INTRINSIC
low complexity region 250 269 N/A INTRINSIC
Pfam:DUF1736 349 427 6.9e-35 PFAM
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 494 516 N/A INTRINSIC
TPR 539 569 8.76e-1 SMART
TPR 570 603 1.69e-2 SMART
TPR 604 637 1.28e-2 SMART
TPR 638 671 4.31e0 SMART
TPR 672 705 1.11e-2 SMART
TPR 706 738 4.62e0 SMART
TPR 773 806 1.1e-1 SMART
TPR 811 844 4.45e-2 SMART
TPR 845 878 1.05e-3 SMART
low complexity region 888 903 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140797
SMART Domains Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
transmembrane domain 112 134 N/A INTRINSIC
low complexity region 160 179 N/A INTRINSIC
Pfam:DUF1736 259 337 9.9e-36 PFAM
transmembrane domain 357 379 N/A INTRINSIC
transmembrane domain 403 425 N/A INTRINSIC
Pfam:TPR_12 449 516 9.6e-10 PFAM
Pfam:TPR_11 451 498 1.3e-9 PFAM
Pfam:TPR_1 453 486 5.7e-6 PFAM
Pfam:TPR_2 453 486 2.6e-7 PFAM
Pfam:TPR_8 453 486 6.5e-4 PFAM
Pfam:TPR_1 487 517 1.6e-3 PFAM
Pfam:TPR_8 496 518 1.5e-3 PFAM
low complexity region 521 539 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency 98% (148/151)
Allele List at MGI
Other mutations in this stock
Total: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T G 5: 64,055,806 (GRCm39) Y181D probably benign Het
1700029H14Rik A G 8: 13,604,715 (GRCm39) V196A possibly damaging Het
2410004B18Rik A G 3: 145,643,833 (GRCm39) D7G probably damaging Het
Acap1 A G 11: 69,776,252 (GRCm39) V249A probably damaging Het
Acat2 A T 17: 13,162,908 (GRCm39) D313E probably benign Het
Actn4 T C 7: 28,604,823 (GRCm39) T325A probably benign Het
Adamdec1 C T 14: 68,819,407 (GRCm39) probably null Het
Adat2 A G 10: 13,429,037 (GRCm39) T10A probably benign Het
Aff4 T A 11: 53,288,685 (GRCm39) S400R possibly damaging Het
Agbl2 C T 2: 90,621,825 (GRCm39) P104L possibly damaging Het
Alox12 G T 11: 70,133,542 (GRCm39) T594K possibly damaging Het
Als2 C A 1: 59,254,546 (GRCm39) K270N probably benign Het
Ankhd1 T A 18: 36,767,787 (GRCm39) C1235S probably damaging Het
Ankrd24 T A 10: 81,470,778 (GRCm39) I69N probably damaging Het
Aox4 G A 1: 58,252,235 (GRCm39) V37I probably benign Het
Arfgap3 A G 15: 83,214,714 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,846,080 (GRCm39) probably null Het
Asic1 C T 15: 99,596,498 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,366,057 (GRCm39) N776S probably benign Het
Bbs7 A G 3: 36,659,883 (GRCm39) I184T probably benign Het
Bbs9 A T 9: 22,425,297 (GRCm39) H117L probably damaging Het
Bnip2 T C 9: 69,902,787 (GRCm39) W10R probably damaging Het
Brd4 G T 17: 32,443,097 (GRCm39) Q175K probably benign Het
Bysl A T 17: 47,917,821 (GRCm39) V124E possibly damaging Het
Cadm3 A G 1: 173,174,140 (GRCm39) probably benign Het
Cc2d2a T C 5: 43,853,980 (GRCm39) probably benign Het
Ccdc134 G T 15: 82,025,147 (GRCm39) E215D probably damaging Het
Celsr3 G T 9: 108,720,923 (GRCm39) probably benign Het
Cntn5 T A 9: 9,781,780 (GRCm39) D428V probably damaging Het
Cog1 A G 11: 113,547,821 (GRCm39) probably benign Het
Col11a2 G T 17: 34,281,520 (GRCm39) probably benign Het
Cyp4f13 G A 17: 33,143,943 (GRCm39) probably benign Het
Dffb T A 4: 154,049,835 (GRCm39) K343* probably null Het
Dnah9 T A 11: 65,802,678 (GRCm39) I224F possibly damaging Het
Dolk A T 2: 30,176,031 (GRCm39) C5S probably benign Het
Dynlt2b A G 16: 32,245,705 (GRCm39) D118G probably damaging Het
Ebf1 A T 11: 44,759,915 (GRCm39) probably benign Het
Elac1 A G 18: 73,875,434 (GRCm39) L199P probably damaging Het
Elmod1 A C 9: 53,842,831 (GRCm39) probably benign Het
Ep400 A C 5: 110,872,273 (GRCm39) probably benign Het
F10 A T 8: 13,098,196 (GRCm39) N133I probably damaging Het
Fasn A G 11: 120,706,141 (GRCm39) Y1068H probably benign Het
Fbxo24 T C 5: 137,622,819 (GRCm39) E12G probably damaging Het
Fer G T 17: 64,385,941 (GRCm39) L304F probably benign Het
Filip1 A C 9: 79,726,285 (GRCm39) L778R probably damaging Het
Fli1 A T 9: 32,335,277 (GRCm39) I385N probably benign Het
Fpgs A T 2: 32,582,506 (GRCm39) L89* probably null Het
Gab2 T G 7: 96,948,448 (GRCm39) I346R probably damaging Het
Gm10764 G A 10: 87,126,841 (GRCm39) G83R unknown Het
Gpr83 G T 9: 14,776,138 (GRCm39) C153F possibly damaging Het
Gtf3c3 A G 1: 54,442,695 (GRCm39) L783P possibly damaging Het
Gys2 A G 6: 142,418,394 (GRCm39) probably benign Het
Heatr9 C T 11: 83,404,164 (GRCm39) V378I possibly damaging Het
Helz A T 11: 107,528,740 (GRCm39) Y920F possibly damaging Het
Inpp5f A T 7: 128,296,907 (GRCm39) Q459L probably damaging Het
Ints12 T C 3: 132,814,806 (GRCm39) S338P probably benign Het
Kif13a T C 13: 46,944,827 (GRCm39) T925A probably benign Het
Kif1a C T 1: 92,969,815 (GRCm39) V1051I probably damaging Het
Kif7 T A 7: 79,349,308 (GRCm39) H1119L possibly damaging Het
Kmt2d C T 15: 98,748,018 (GRCm39) probably benign Het
Krt90 C T 15: 101,471,110 (GRCm39) G51S possibly damaging Het
Krtap31-2 A T 11: 99,827,572 (GRCm39) I135F possibly damaging Het
Lrp2 T C 2: 69,258,974 (GRCm39) E4572G probably benign Het
Mapk8ip1 T C 2: 92,216,289 (GRCm39) E493G probably damaging Het
Matk T G 10: 81,094,326 (GRCm39) L28V probably benign Het
Mcc T A 18: 44,892,366 (GRCm39) T83S probably benign Het
Mtch1 A T 17: 29,559,080 (GRCm39) M204K possibly damaging Het
Muc4 T G 16: 32,586,120 (GRCm39) C2622G possibly damaging Het
Myo5a G A 9: 75,093,405 (GRCm39) probably null Het
Myoz3 T C 18: 60,712,023 (GRCm39) Y185C probably damaging Het
Nnmt A G 9: 48,503,438 (GRCm39) V196A probably benign Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Nup214 T A 2: 31,888,069 (GRCm39) probably benign Het
Or2aj4 T G 16: 19,385,044 (GRCm39) E196D probably damaging Het
Or2y13 T C 11: 49,414,739 (GRCm39) L63P probably damaging Het
Or4c126 T A 2: 89,824,150 (GRCm39) F138I probably benign Het
Pank3 T C 11: 35,672,543 (GRCm39) probably benign Het
Parm1 A T 5: 91,742,153 (GRCm39) N174Y possibly damaging Het
Pcgf2 A T 11: 97,583,244 (GRCm39) probably null Het
Pclo A T 5: 14,825,434 (GRCm39) K4661M unknown Het
Pcsk7 A C 9: 45,827,357 (GRCm39) S375R probably damaging Het
Pdzrn4 G T 15: 92,668,200 (GRCm39) S784I possibly damaging Het
Pex6 T A 17: 47,034,663 (GRCm39) probably null Het
Pi4ka C T 16: 17,115,499 (GRCm39) V1384M probably benign Het
Polr3f T A 2: 144,378,195 (GRCm39) probably benign Het
Ppp2r3d A T 9: 101,089,483 (GRCm39) V280E probably damaging Het
Prdm14 C T 1: 13,192,672 (GRCm39) G356R probably damaging Het
Prepl A G 17: 85,372,466 (GRCm39) probably null Het
Primpol T C 8: 47,052,849 (GRCm39) D154G probably damaging Het
Ptchd4 A C 17: 42,814,307 (GRCm39) H736P probably damaging Het
Rab11fip1 A G 8: 27,642,253 (GRCm39) S849P probably damaging Het
Rap1gap T A 4: 137,446,662 (GRCm39) D405E probably damaging Het
Rbm26 T C 14: 105,369,374 (GRCm39) T686A probably benign Het
Resf1 T C 6: 149,227,739 (GRCm39) Y262H probably damaging Het
Rint1 A G 5: 24,021,930 (GRCm39) probably benign Het
Rnasek G T 11: 70,129,266 (GRCm39) Y62* probably null Het
Rnf17 T G 14: 56,719,541 (GRCm39) N930K possibly damaging Het
Sap130 A G 18: 31,813,734 (GRCm39) probably benign Het
Sectm1b T A 11: 120,946,611 (GRCm39) I95F probably damaging Het
Sema4f A T 6: 82,916,447 (GRCm39) I53N possibly damaging Het
Shld1 T C 2: 132,592,559 (GRCm39) V202A probably benign Het
Siglec1 T C 2: 130,927,396 (GRCm39) T137A probably damaging Het
Six5 A C 7: 18,830,947 (GRCm39) probably null Het
Slc22a30 A T 19: 8,322,721 (GRCm39) I345N probably benign Het
Slc25a27 A T 17: 43,954,518 (GRCm39) M316K probably benign Het
Slc2a8 A T 2: 32,870,116 (GRCm39) probably benign Het
Snx1 G A 9: 66,008,608 (GRCm39) probably benign Het
Spag17 A G 3: 99,992,684 (GRCm39) T1727A probably benign Het
Spata20 T C 11: 94,372,472 (GRCm39) D633G probably benign Het
Spock1 C T 13: 57,583,922 (GRCm39) probably null Het
Sra1 A T 18: 36,808,759 (GRCm39) Y291* probably null Het
Sspo C A 6: 48,470,120 (GRCm39) P4520T probably damaging Het
Stat4 A G 1: 52,051,016 (GRCm39) N25S probably benign Het
Tbx18 A T 9: 87,597,569 (GRCm39) probably benign Het
Tep1 T A 14: 51,084,444 (GRCm39) I187F probably damaging Het
Tfap2b A T 1: 19,304,347 (GRCm39) I368F probably damaging Het
Tmx3 T A 18: 90,556,613 (GRCm39) probably benign Het
Tnc G T 4: 63,888,657 (GRCm39) T1803K probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tpgs1 C T 10: 79,511,700 (GRCm39) P281S probably benign Het
Trim45 A G 3: 100,837,160 (GRCm39) R499G probably benign Het
Tulp3 A T 6: 128,302,921 (GRCm39) Y299* probably null Het
Ube4a A T 9: 44,857,476 (GRCm39) probably benign Het
Ubr3 T G 2: 69,781,749 (GRCm39) S642R probably damaging Het
Vcpip1 A T 1: 9,817,431 (GRCm39) Y317* probably null Het
Vmn1r115 G A 7: 20,578,327 (GRCm39) T195I probably benign Het
Vmn1r226 G A 17: 20,907,839 (GRCm39) V24I probably benign Het
Wdr41 C T 13: 95,153,914 (GRCm39) A321V probably damaging Het
Wfdc5 T C 2: 164,020,755 (GRCm39) N44D probably benign Het
Wnt7b C A 15: 85,443,103 (GRCm39) probably null Het
Zfp108 T C 7: 23,961,208 (GRCm39) S600P possibly damaging Het
Zfp267 A G 3: 36,219,303 (GRCm39) H442R possibly damaging Het
Zfp385b A G 2: 77,246,072 (GRCm39) probably null Het
Zfp395 T C 14: 65,623,929 (GRCm39) S133P probably benign Het
Zfp407 T A 18: 84,576,836 (GRCm39) M1426L probably damaging Het
Zfp641 T G 15: 98,187,008 (GRCm39) N191T possibly damaging Het
Zfp687 T C 3: 94,918,864 (GRCm39) S303G probably damaging Het
Zfp759 T A 13: 67,286,877 (GRCm39) F143I possibly damaging Het
Zgrf1 G C 3: 127,409,095 (GRCm39) E1690Q probably damaging Het
Other mutations in Tmtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Tmtc1 APN 6 148,345,442 (GRCm39) missense probably benign 0.02
IGL01377:Tmtc1 APN 6 148,147,285 (GRCm39) missense possibly damaging 0.82
IGL01728:Tmtc1 APN 6 148,312,564 (GRCm39) missense probably benign 0.02
IGL02904:Tmtc1 APN 6 148,150,980 (GRCm39) splice site probably benign
R0044:Tmtc1 UTSW 6 148,314,327 (GRCm39) splice site probably benign
R0107:Tmtc1 UTSW 6 148,327,411 (GRCm39) missense possibly damaging 0.85
R0114:Tmtc1 UTSW 6 148,314,328 (GRCm39) splice site probably benign
R0310:Tmtc1 UTSW 6 148,151,079 (GRCm39) missense probably benign 0.00
R0441:Tmtc1 UTSW 6 148,317,256 (GRCm39) missense probably damaging 1.00
R0491:Tmtc1 UTSW 6 148,314,138 (GRCm39) critical splice donor site probably null
R0578:Tmtc1 UTSW 6 148,256,716 (GRCm39) intron probably benign
R0685:Tmtc1 UTSW 6 148,312,738 (GRCm39) missense probably benign 0.39
R1470:Tmtc1 UTSW 6 148,207,483 (GRCm39) splice site probably benign
R1533:Tmtc1 UTSW 6 148,147,208 (GRCm39) critical splice donor site probably null
R1577:Tmtc1 UTSW 6 148,314,318 (GRCm39) critical splice acceptor site probably null
R1617:Tmtc1 UTSW 6 148,256,902 (GRCm39) intron probably benign
R1763:Tmtc1 UTSW 6 148,196,116 (GRCm39) missense probably damaging 1.00
R1909:Tmtc1 UTSW 6 148,345,546 (GRCm39) missense possibly damaging 0.93
R1943:Tmtc1 UTSW 6 148,327,416 (GRCm39) nonsense probably null
R2050:Tmtc1 UTSW 6 148,164,381 (GRCm39) missense probably damaging 1.00
R2305:Tmtc1 UTSW 6 148,146,195 (GRCm39) missense probably damaging 0.99
R3813:Tmtc1 UTSW 6 148,256,389 (GRCm39) intron probably benign
R4355:Tmtc1 UTSW 6 148,256,596 (GRCm39) intron probably benign
R4537:Tmtc1 UTSW 6 148,164,280 (GRCm39) critical splice donor site probably null
R4731:Tmtc1 UTSW 6 148,186,478 (GRCm39) splice site probably null
R4732:Tmtc1 UTSW 6 148,186,478 (GRCm39) splice site probably null
R4733:Tmtc1 UTSW 6 148,186,478 (GRCm39) splice site probably null
R4960:Tmtc1 UTSW 6 148,345,445 (GRCm39) unclassified probably benign
R5048:Tmtc1 UTSW 6 148,139,344 (GRCm39) missense possibly damaging 0.96
R5118:Tmtc1 UTSW 6 148,171,485 (GRCm39) intron probably benign
R5279:Tmtc1 UTSW 6 148,256,629 (GRCm39) intron probably benign
R5310:Tmtc1 UTSW 6 148,256,910 (GRCm39) intron probably benign
R5411:Tmtc1 UTSW 6 148,345,397 (GRCm39) critical splice donor site probably null
R5646:Tmtc1 UTSW 6 148,148,329 (GRCm39) missense probably damaging 1.00
R5868:Tmtc1 UTSW 6 148,139,353 (GRCm39) missense probably damaging 1.00
R6482:Tmtc1 UTSW 6 148,314,243 (GRCm39) missense probably benign 0.00
R7162:Tmtc1 UTSW 6 148,172,985 (GRCm39) missense probably damaging 1.00
R7462:Tmtc1 UTSW 6 148,226,643 (GRCm39) missense probably damaging 1.00
R7702:Tmtc1 UTSW 6 148,345,415 (GRCm39) missense probably benign 0.35
R8304:Tmtc1 UTSW 6 148,172,883 (GRCm39) missense probably damaging 0.99
R8353:Tmtc1 UTSW 6 148,327,346 (GRCm39) missense probably benign 0.11
R9032:Tmtc1 UTSW 6 148,237,749 (GRCm39) nonsense probably null
R9085:Tmtc1 UTSW 6 148,237,749 (GRCm39) nonsense probably null
R9089:Tmtc1 UTSW 6 148,147,215 (GRCm39) missense possibly damaging 0.85
R9287:Tmtc1 UTSW 6 148,186,390 (GRCm39) missense probably benign 0.03
R9649:Tmtc1 UTSW 6 148,144,714 (GRCm39) missense probably damaging 1.00
RF018:Tmtc1 UTSW 6 148,149,009 (GRCm39) missense probably damaging 1.00
Z1177:Tmtc1 UTSW 6 148,312,578 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- GGCTCAGCAGTCTCATCTCTGTTTG -3'
(R):5'- AGTTATGCGCTCACAGCACTTACC -3'

Sequencing Primer
(F):5'- GCAAGCTGCACTTATACCTAGTATC -3'
(R):5'- AGGCATTCATTCACTCAGGG -3'
Posted On 2013-05-23