Incidental Mutation 'R1763:Tmtc1'
ID 193193
Institutional Source Beutler Lab
Gene Symbol Tmtc1
Ensembl Gene ENSMUSG00000030306
Gene Name transmembrane and tetratricopeptide repeat containing 1
Synonyms
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 148133928-148345887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 148196116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 499 (G499W)
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: G499W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: G499W

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: G499W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: G499W

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 damaging
Transcript: ENSMUST00000140797
AA Change: G409W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115543
Gene: ENSMUSG00000030306
AA Change: G409W

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 0.3282 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,396,529 (GRCm39) V401A probably benign Het
Abca4 G A 3: 121,904,330 (GRCm39) V794M probably benign Het
Abca4 A T 3: 121,957,479 (GRCm39) T772S probably damaging Het
Acox3 G A 5: 35,765,683 (GRCm39) probably null Het
Adamts17 A G 7: 66,797,463 (GRCm39) N1060S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Als2 T C 1: 59,214,150 (GRCm39) Y1346C probably benign Het
Apol10b A T 15: 77,469,215 (GRCm39) F321I probably benign Het
Atp5pb A G 3: 105,858,905 (GRCm39) probably null Het
Bloc1s5 A G 13: 38,803,060 (GRCm39) probably benign Het
Btbd9 T C 17: 30,553,271 (GRCm39) N397S possibly damaging Het
Cacna1d A G 14: 29,821,153 (GRCm39) V1121A probably benign Het
Cad G A 5: 31,218,295 (GRCm39) V460I probably damaging Het
Caprin2 A T 6: 148,744,619 (GRCm39) D935E probably damaging Het
Ccdc150 A T 1: 54,393,795 (GRCm39) K686N probably benign Het
Ccnt2 T C 1: 127,727,143 (GRCm39) F186L possibly damaging Het
Cd5l G A 3: 87,275,187 (GRCm39) probably null Het
Chrna7 A G 7: 62,749,000 (GRCm39) V494A probably benign Het
Clec2i T G 6: 128,872,388 (GRCm39) Y198* probably null Het
Col22a1 A G 15: 71,879,025 (GRCm39) V44A probably damaging Het
Cspg4 T A 9: 56,794,263 (GRCm39) I666N probably damaging Het
Cyp3a16 A T 5: 145,401,841 (GRCm39) probably null Het
Dlk1 G T 12: 109,424,045 (GRCm39) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Dscc1 T A 15: 54,947,535 (GRCm39) H215L probably damaging Het
Dus1l C G 11: 120,686,497 (GRCm39) G15R probably benign Het
Eps8l1 G T 7: 4,474,822 (GRCm39) V268L probably benign Het
F2 A C 2: 91,465,251 (GRCm39) C104W probably damaging Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fmn2 T C 1: 174,329,832 (GRCm39) L74P unknown Het
Frmd6 G A 12: 70,940,396 (GRCm39) R347Q possibly damaging Het
Gabbr1 T G 17: 37,365,659 (GRCm39) S158A probably damaging Het
Galc T C 12: 98,200,525 (GRCm39) N295S probably damaging Het
Gm6408 A T 5: 146,419,132 (GRCm39) N49I probably damaging Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Grm8 C T 6: 27,285,866 (GRCm39) V849I possibly damaging Het
Hmcn2 A G 2: 31,204,602 (GRCm39) D59G probably damaging Het
Iars1 G A 13: 49,876,553 (GRCm39) probably null Het
Ifi27l2a C T 12: 103,403,941 (GRCm39) A127V possibly damaging Het
Ikbip A G 10: 90,932,343 (GRCm39) N329S probably damaging Het
Ikbke T C 1: 131,193,614 (GRCm39) T479A probably benign Het
Krt12 T A 11: 99,306,886 (GRCm39) N472I probably damaging Het
Lmnb2 A T 10: 80,743,025 (GRCm39) L193Q probably damaging Het
Lrriq4 T C 3: 30,704,401 (GRCm39) V128A probably benign Het
Map4k4 C A 1: 40,039,917 (GRCm39) probably benign Het
Mtmr7 T C 8: 41,004,852 (GRCm39) T575A probably benign Het
Myh13 G A 11: 67,225,402 (GRCm39) A256T probably benign Het
Napepld A G 5: 21,888,408 (GRCm39) Y14H probably benign Het
Npr1 T C 3: 90,366,644 (GRCm39) T552A probably damaging Het
Nudt15 A G 14: 73,759,087 (GRCm39) F127S probably benign Het
Nwd2 T A 5: 63,965,614 (GRCm39) S1733T probably benign Het
Or11a4 T C 17: 37,536,321 (GRCm39) F102L probably benign Het
Or4c102 A G 2: 88,422,780 (GRCm39) I211V probably benign Het
Or4c10b G A 2: 89,711,473 (GRCm39) G101E probably damaging Het
Or6z1 T G 7: 6,504,440 (GRCm39) I262L probably benign Het
Or8b44 A G 9: 38,410,334 (GRCm39) Y123C probably damaging Het
Paqr7 A T 4: 134,234,409 (GRCm39) I89F probably benign Het
Pidd1 C A 7: 141,019,543 (GRCm39) V706L probably benign Het
Polr3c A T 3: 96,620,911 (GRCm39) I469N probably damaging Het
Ppip5k1 A G 2: 121,179,028 (GRCm39) Y233H probably damaging Het
Psmc3 A G 2: 90,886,340 (GRCm39) T166A possibly damaging Het
Ptchd3 A T 11: 121,733,368 (GRCm39) I753L probably benign Het
Rad21 T C 15: 51,841,566 (GRCm39) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs20 C T 1: 4,980,863 (GRCm39) R154Q probably damaging Het
Sbf1 T C 15: 89,178,628 (GRCm39) D1449G probably damaging Het
Sema4g C T 19: 44,990,044 (GRCm39) R708* probably null Het
Septin9 T C 11: 117,181,254 (GRCm39) I18T probably benign Het
Serpinb6b A G 13: 33,162,041 (GRCm39) E280G probably damaging Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,158 (GRCm39) W554* probably null Het
Slco1a4 A C 6: 141,758,457 (GRCm39) I518R probably benign Het
Stab1 T A 14: 30,890,373 (GRCm39) Q26L probably benign Het
Stox1 A G 10: 62,503,744 (GRCm39) F104L probably damaging Het
Suco T C 1: 161,662,518 (GRCm39) K638E possibly damaging Het
Synpo T C 18: 60,735,856 (GRCm39) K458E probably damaging Het
Szt2 A T 4: 118,229,565 (GRCm39) W2820R unknown Het
Tonsl A C 15: 76,522,266 (GRCm39) S242R probably damaging Het
Trpc4 G T 3: 54,102,243 (GRCm39) S47I possibly damaging Het
Zfp106 G A 2: 120,350,909 (GRCm39) R1581C probably benign Het
Zfp27 A G 7: 29,594,801 (GRCm39) L388P possibly 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
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
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'- TGTTCCAGAGAAAGCCACAGCC -3'
(R):5'- cacaTTGACACTCCTACCACAGCAC -3'

Sequencing Primer
(F):5'- GTGACTGATTCTACAGCCCAG -3'
(R):5'- CTACCACAGCACCACCAC -3'
Posted On 2014-05-23