Incidental Mutation 'R4355:Tmtc1'
ID 327486
Institutional Source Beutler Lab
Gene Symbol Tmtc1
Ensembl Gene ENSMUSG00000030306
Gene Name transmembrane and tetratricopeptide repeat containing 1
Synonyms
MMRRC Submission 041108-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4355 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 148133928-148345887 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 148256596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060095] [ENSMUST00000100772] [ENSMUST00000140797]
AlphaFold Q3UV71
Predicted Effect probably benign
Transcript: ENSMUST00000060095
SMART Domains Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306

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 noncoding transcript
Transcript: ENSMUST00000071745
SMART Domains Protein: ENSMUSP00000071658
Gene: ENSMUSG00000063171

DomainStartEndE-ValueType
Pfam:RS4NT 3 39 4.3e-24 PFAM
S4 42 106 1.23e-5 SMART
Pfam:KOW 177 211 4.3e-8 PFAM
Pfam:40S_S4_C 212 259 1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100772
SMART Domains Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204618
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T G 8: 44,023,222 (GRCm39) Q89H probably benign Het
Adgrb1 T C 15: 74,415,511 (GRCm39) F697S probably damaging Het
Adgrl2 A T 3: 148,544,788 (GRCm39) V769E probably damaging Het
Aldh7a1 A T 18: 56,681,566 (GRCm39) F173L probably null Het
Bcl3 G T 7: 19,545,505 (GRCm39) C208* probably null Het
Bmal1 A G 7: 112,902,613 (GRCm39) I421V possibly damaging Het
Casz1 T C 4: 149,036,792 (GRCm39) S1685P unknown Het
Cep250 A G 2: 155,833,445 (GRCm39) E1789G probably damaging Het
Cep76 A T 18: 67,759,710 (GRCm39) D334E probably benign Het
Clca3b A T 3: 144,531,219 (GRCm39) probably null Het
Col9a3 A G 2: 180,248,271 (GRCm39) S208G probably benign Het
Ddx47 T C 6: 134,998,468 (GRCm39) V388A probably benign Het
Dync1h1 C T 12: 110,599,333 (GRCm39) A1896V possibly damaging Het
Eif2ak2 T A 17: 79,165,963 (GRCm39) R411S probably benign Het
F7 A G 8: 13,084,774 (GRCm39) T267A probably benign Het
Fras1 C A 5: 96,848,101 (GRCm39) D1770E probably benign Het
G2e3 T A 12: 51,412,120 (GRCm39) Y387N probably benign Het
Hspg2 C T 4: 137,256,729 (GRCm39) L1491F probably damaging Het
Ighv3-4 T C 12: 114,217,260 (GRCm39) I110M probably benign Het
Itgb5 T A 16: 33,665,367 (GRCm39) C28S probably damaging Het
Itprid2 A G 2: 79,472,342 (GRCm39) N132S probably benign Het
Kbtbd11 C A 8: 15,078,578 (GRCm39) N392K probably damaging Het
Kcnmb4 A G 10: 116,309,189 (GRCm39) S80P possibly damaging Het
Kif21a C T 15: 90,855,036 (GRCm39) C721Y probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klrc3 T C 6: 129,616,125 (GRCm39) M189V probably benign Het
Macf1 T A 4: 123,368,884 (GRCm39) E394V possibly damaging Het
Mrgprb4 C T 7: 47,848,449 (GRCm39) G160R possibly damaging Het
Myb A G 10: 21,028,516 (GRCm39) S116P probably damaging Het
Nf2 G A 11: 4,730,613 (GRCm39) Q513* probably null Het
Nmnat3 C T 9: 98,292,205 (GRCm39) T150M possibly damaging Het
Obi1 A G 14: 104,716,693 (GRCm39) V560A probably benign Het
Or11g27 T C 14: 50,771,216 (GRCm39) C116R possibly damaging Het
Or12k8 C A 2: 36,974,942 (GRCm39) V273F probably benign Het
Patj T G 4: 98,538,691 (GRCm39) C210W possibly damaging Het
Pde3b A G 7: 114,015,522 (GRCm39) H246R probably benign Het
Pnp2 A G 14: 51,197,082 (GRCm39) H56R probably benign Het
Prkg1 A G 19: 30,546,629 (GRCm39) probably benign Het
Rhbdf1 C T 11: 32,166,236 (GRCm39) S8N probably damaging Het
Rimbp3 A G 16: 17,027,556 (GRCm39) K327E possibly damaging Het
Rsph6a T A 7: 18,801,003 (GRCm39) probably null Het
Ryr2 T C 13: 11,664,698 (GRCm39) N3535S probably benign Het
Ston1 T G 17: 88,944,436 (GRCm39) V614G probably damaging Het
Svep1 T A 4: 58,138,695 (GRCm39) T466S possibly damaging Het
Tas2r109 A T 6: 132,957,144 (GRCm39) I262N probably benign Het
Tshz2 G A 2: 169,726,858 (GRCm39) E16K possibly damaging Het
Ufsp2 T A 8: 46,438,502 (GRCm39) S193R possibly damaging Het
Ugt2b5 C A 5: 87,287,622 (GRCm39) E182* probably null Het
Usp43 A G 11: 67,782,290 (GRCm39) V376A probably benign Het
Utp15 A T 13: 98,395,755 (GRCm39) F76I possibly damaging Het
Wdr62 A C 7: 29,941,673 (GRCm39) L1141R probably damaging Het
Zfp418 T A 7: 7,175,161 (GRCm39) M18K probably benign 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
R0243:Tmtc1 UTSW 6 148,148,335 (GRCm39) missense probably damaging 1.00
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
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'- TTAAGGTCGACGGCAAGGTC -3'
(R):5'- TGGCATCTTTCACGTGGACC -3'

Sequencing Primer
(F):5'- TCAGAACCGATGTGGCCTAC -3'
(R):5'- TGGACCACGTCAAAGGAGCC -3'
Posted On 2015-07-07