Incidental Mutation 'R5646:Tmtc1'
ID 441148
Institutional Source Beutler Lab
Gene Symbol Tmtc1
Ensembl Gene ENSMUSG00000030306
Gene Name transmembrane and tetratricopeptide repeat containing 1
Synonyms
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 148133928-148345887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148148329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 751 (A751V)
Ref Sequence ENSEMBL: ENSMUSP00000056353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060095] [ENSMUST00000100772] [ENSMUST00000140797]
AlphaFold Q3UV71
Predicted Effect probably damaging
Transcript: ENSMUST00000060095
AA Change: A751V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: A751V

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 benign
Transcript: ENSMUST00000100772
AA Change: A713V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: A713V

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null 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
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
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'- ATATGAGCATCACACAGCCG -3'
(R):5'- GGGTTCAACATGACCTTGATCC -3'

Sequencing Primer
(F):5'- CTTCCAGCTCAGAGGCTCAG -3'
(R):5'- GGTTCAACATGACCTTGATCCAAAAC -3'
Posted On 2016-11-08