Incidental Mutation 'IGL00990:Tmtc1'
ID 306768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmtc1
Ensembl Gene ENSMUSG00000030306
Gene Name transmembrane and tetratricopeptide repeat containing 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL00990
Quality Score
Status
Chromosome 6
Chromosomal Location 148133928-148345887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 148345442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 86 (T86P)
Ref Sequence ENSEMBL: ENSMUSP00000098335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060095] [ENSMUST00000100772] [ENSMUST00000140797] [ENSMUST00000203991]
AlphaFold Q3UV71
Predicted Effect probably benign
Transcript: ENSMUST00000060095
AA Change: T86P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000056353
Gene: ENSMUSG00000030306
AA Change: T86P

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: T86P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000098335
Gene: ENSMUSG00000030306
AA Change: T86P

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 probably benign
Transcript: ENSMUST00000203991
SMART Domains Protein: ENSMUSP00000144991
Gene: ENSMUSG00000030306

DomainStartEndE-ValueType
signal peptide 1 39 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C A 15: 64,694,162 (GRCm39) V372L probably benign Het
Bod1l T C 5: 41,986,208 (GRCm39) D458G probably benign Het
Cacna1c G T 6: 118,590,256 (GRCm39) H1416N probably damaging Het
Cacna2d1 T C 5: 16,140,067 (GRCm39) I19T probably benign Het
Cadps T A 14: 12,715,374 (GRCm38) T153S possibly damaging Het
Cd200r1 A T 16: 44,614,672 (GRCm39) D317V possibly damaging Het
Cimap1c T C 9: 56,756,341 (GRCm39) E225G probably benign Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Dnhd1 A C 7: 105,370,895 (GRCm39) H4725P possibly damaging Het
Echdc3 C A 2: 6,200,538 (GRCm39) L149F probably benign Het
Efhb T G 17: 53,769,649 (GRCm39) Q220P possibly damaging Het
Efr3b A T 12: 4,025,411 (GRCm39) Y18* probably null Het
Eri1 T C 8: 35,949,836 (GRCm39) K41R possibly damaging Het
Eri1 C A 8: 35,949,800 (GRCm39) G53V probably benign Het
Gm10212 A G 19: 11,546,924 (GRCm39) noncoding transcript Het
Gm11168 T G 9: 3,005,124 (GRCm39) F201C probably damaging Het
Gm14412 A C 2: 177,007,479 (GRCm39) S139A probably benign Het
Gm21411 C T 4: 146,977,067 (GRCm39) S69N possibly damaging Het
Gm21738 A G 14: 19,418,885 (GRCm38) C16R probably benign Het
Gm21967 T A 13: 120,071,071 (GRCm39) probably benign Het
Gm4952 A T 19: 12,600,987 (GRCm39) D69V probably damaging Het
Gm5591 T G 7: 38,219,838 (GRCm39) K345T probably benign Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gm9758 G A 5: 14,963,522 (GRCm39) probably benign Het
Gtse1 C A 15: 85,753,018 (GRCm39) Q378K possibly damaging Het
Haus3 T C 5: 34,323,690 (GRCm39) K307E probably benign Het
Hjurp A G 1: 88,197,991 (GRCm39) L96S probably benign Het
Ifi205 T A 1: 173,854,899 (GRCm39) probably benign Het
Ighg1 A G 12: 113,292,804 (GRCm39) V255A unknown Het
Ighv14-4 T A 12: 114,140,252 (GRCm39) M49L probably benign Het
Jak1 A C 4: 101,028,554 (GRCm39) L508R probably damaging Het
Kif18a A G 2: 109,164,767 (GRCm39) Q821R probably benign Het
Kif21b T C 1: 136,080,080 (GRCm39) S539P possibly damaging Het
Klhdc2 T C 12: 69,353,987 (GRCm39) V266A probably benign Het
Lonp2 G T 8: 87,368,161 (GRCm39) probably benign Het
Mpdz C T 4: 81,221,821 (GRCm39) probably benign Het
Mroh2a G T 1: 88,172,692 (GRCm39) M823I probably benign Het
Mroh2a G A 1: 88,161,842 (GRCm39) G309D possibly damaging Het
Mroh2a G A 1: 88,158,468 (GRCm39) E172K probably damaging Het
Mtif3 C A 5: 146,895,914 (GRCm39) G58* probably null Het
Muc4 C T 16: 32,576,179 (GRCm39) probably benign Het
Muc4 C T 16: 32,575,114 (GRCm39) P1233L probably benign Het
Muc4 G T 16: 32,575,139 (GRCm39) K1241N probably benign Het
Muc4 G A 16: 32,575,140 (GRCm39) G1242R probably benign Het
Muc4 T G 16: 32,753,863 (GRCm38) N1246K probably benign Het
Muc4 A T 16: 32,753,886 (GRCm38) E1254V probably benign Het
Muc4 C T 16: 32,752,569 (GRCm38) P816S probably benign Het
Muc4 A G 16: 32,575,362 (GRCm39) R1316G probably benign Het
Muc4 C A 16: 32,575,246 (GRCm39) T1277K possibly damaging Het
Muc6 C T 7: 141,638,890 (GRCm38) A1957T possibly damaging Het
Naca T A 10: 127,879,669 (GRCm39) probably benign Het
Nars2 A T 7: 96,651,997 (GRCm39) probably benign Het
Or1j14 A C 2: 36,418,005 (GRCm39) I194L probably benign Het
Or52b3 G T 7: 102,204,098 (GRCm39) L202F probably damaging Het
Or5b12b G T 19: 12,861,265 (GRCm39) V7L probably benign Het
Or6c216 T C 10: 129,678,342 (GRCm39) T190A probably damaging Het
Pcdh7 G A 5: 57,877,806 (GRCm39) E454K possibly damaging Het
Pip5kl1 C A 2: 32,473,359 (GRCm39) A332D probably benign Het
Pisd A T 5: 32,896,702 (GRCm39) S280T probably benign Het
Pramel34 T A 5: 93,784,336 (GRCm39) Q376L probably damaging Het
Pramel5 A G 4: 144,000,549 (GRCm39) L9P probably damaging Het
Prkd3 G T 17: 79,261,952 (GRCm39) N787K probably benign Het
Prkdc A T 16: 15,519,979 (GRCm39) H1139L probably benign Het
R3hdm1 A G 1: 128,089,933 (GRCm39) probably benign Het
Rbfox2 T C 15: 76,987,136 (GRCm39) N206D probably damaging Het
Rlf T C 4: 121,005,536 (GRCm39) E1258G possibly damaging Het
Rpl8 T C 15: 76,789,242 (GRCm39) probably benign Het
Senp5 A C 16: 31,809,092 (GRCm39) V27G probably benign Het
Serpina1b T A 12: 103,694,525 (GRCm39) K406N probably damaging Het
Sfi1 C T 11: 3,085,671 (GRCm39) A853T probably damaging Het
Sfi1 T C 11: 3,093,689 (GRCm39) probably benign Het
Sfi1 G A 11: 3,084,337 (GRCm39) A975V probably benign Het
Shc1 T C 3: 89,331,536 (GRCm39) S154P probably damaging Het
Sirpd C T 3: 15,397,205 (GRCm39) probably null Het
Skint5 A G 4: 113,400,070 (GRCm39) probably null Het
Slc17a8 T C 10: 89,412,392 (GRCm39) D531G probably benign Het
Slc4a10 A C 2: 62,117,284 (GRCm39) T718P probably damaging Het
Slc7a11 C T 3: 50,333,518 (GRCm39) R411Q probably damaging Het
Slitrk3 A G 3: 72,957,414 (GRCm39) F453L probably damaging Het
Slk A C 19: 47,568,691 (GRCm39) Q20P probably damaging Het
Smg5 T C 3: 88,250,345 (GRCm39) probably null Het
Sp110 G A 1: 85,514,002 (GRCm39) R252C possibly damaging Het
Sp140 G A 1: 85,553,854 (GRCm39) R231K probably benign Het
Sp140 C T 1: 85,553,886 (GRCm39) R242C possibly damaging Het
Speer4a3 A C 5: 26,159,222 (GRCm39) W41G probably benign Het
Speer4b G A 5: 27,706,272 (GRCm39) P30S probably damaging Het
Spef1l A C 7: 139,558,016 (GRCm39) V60G probably damaging Het
Stim1 T A 7: 102,075,954 (GRCm39) H395Q probably damaging Het
Sult2a1 T C 7: 13,537,961 (GRCm39) I187M probably benign Het
Thap1 G A 8: 26,652,759 (GRCm39) D189N probably benign Het
Thap1 C T 8: 26,650,910 (GRCm39) P37L possibly damaging Het
Thrap3 C T 4: 126,059,188 (GRCm39) probably benign Het
Tmem132d C T 5: 127,861,896 (GRCm39) V742I possibly damaging Het
Tmprss9 A G 10: 80,728,126 (GRCm39) D572G possibly damaging Het
Trip12 A T 1: 84,729,605 (GRCm39) N1026K probably damaging Het
Ttll5 T A 12: 85,923,363 (GRCm39) V280E probably damaging Het
Ubn2 T A 6: 38,459,540 (GRCm39) D592E possibly damaging Het
Ubr1 T G 2: 120,761,353 (GRCm39) H608P probably damaging Het
Ugt1a6b A T 1: 88,142,900 (GRCm39) probably null Het
Vmn1r77 C A 7: 11,775,695 (GRCm39) S89Y probably benign Het
Vmn1r77 A C 7: 11,775,403 (GRCm39) I60L probably benign Het
Vmn2r114 G A 17: 23,509,939 (GRCm39) A847V probably benign Het
Vmn2r114 A T 17: 23,510,212 (GRCm39) L756Q probably damaging Het
Vmn2r114 G T 17: 23,509,957 (GRCm39) S841Y probably benign Het
Vmn2r115 G A 17: 23,578,753 (GRCm39) G742D probably damaging Het
Vmn2r115 C T 17: 23,565,238 (GRCm39) S375F probably benign Het
Vmn2r115 A G 17: 23,575,934 (GRCm39) M511V probably benign Het
Vmn2r115 A G 17: 23,565,346 (GRCm39) Q411R probably benign Het
Vmn2r115 C T 17: 23,565,345 (GRCm39) Q411* probably null Het
Vmn2r115 C T 17: 23,578,371 (GRCm39) P615S probably damaging Het
Vmn2r115 A G 17: 23,565,135 (GRCm39) N341D probably benign Het
Vmn2r115 G A 17: 23,565,252 (GRCm39) E380K probably benign Het
Vmn2r115 A C 17: 23,565,313 (GRCm39) N400T probably damaging Het
Vmn2r115 T A 17: 23,578,798 (GRCm39) L757Q probably damaging Het
Vmn2r115 G T 17: 23,567,008 (GRCm39) G507* probably null Het
Vmn2r115 A T 17: 23,565,180 (GRCm39) M356L possibly damaging Het
Vmn2r115 C T 17: 23,565,150 (GRCm39) P346S probably benign Het
Vmn2r115 G T 17: 23,578,323 (GRCm39) A599S probably benign Het
Vmn2r116 C T 17: 23,606,210 (GRCm39) S374F probably benign Het
Vmn2r116 C T 17: 23,616,701 (GRCm39) P540S probably damaging Het
Vmn2r117 T G 17: 23,694,403 (GRCm39) K481N probably damaging Het
Vmn2r117 C T 17: 23,696,814 (GRCm39) A198T probably damaging Het
Vmn2r117 A C 17: 23,698,520 (GRCm39) S18A probably benign Het
Vmn2r121 T G X: 123,037,499 (GRCm39) K840N probably benign Het
Vmn2r121 C T X: 123,043,413 (GRCm39) E73K probably benign Het
Vmn2r121 T A X: 123,037,480 (GRCm39) N847Y possibly damaging Het
Vmn2r125 T A 4: 156,703,521 (GRCm39) L300M probably benign Het
Vmn2r125 A T 4: 156,703,332 (GRCm39) T237S probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r125 C A 4: 156,703,194 (GRCm39) Q191K probably benign Het
Vmn2r125 A C 4: 156,703,195 (GRCm39) Q191P probably benign Het
Vmn2r125 T C 4: 156,703,261 (GRCm39) V213A probably benign Het
Vmn2r125 T C 4: 156,703,678 (GRCm39) M352T probably benign Het
Vmn2r129 C A 4: 156,690,730 (GRCm39) noncoding transcript Het
Vmn2r129 A T 4: 156,690,441 (GRCm39) noncoding transcript Het
Vmn2r129 T G 4: 156,690,779 (GRCm39) noncoding transcript Het
Vmn2r129 T G 4: 156,686,857 (GRCm39) noncoding transcript Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r129 T C 4: 156,686,558 (GRCm39) noncoding transcript Het
Vmn2r129 G T 4: 156,690,755 (GRCm39) noncoding transcript Het
Vmn2r88 A G 14: 51,650,582 (GRCm39) I98M probably benign Het
Vmn2r88 C T 14: 51,654,259 (GRCm39) P539L possibly damaging Het
Vmn2r88 T C 14: 51,650,713 (GRCm39) I142T probably benign Het
Vmn2r88 T C 14: 51,650,517 (GRCm39) F77L probably benign Het
Vmn2r89 A C 14: 51,693,428 (GRCm39) Q259H probably benign Het
Vmn2r89 T G 14: 51,694,950 (GRCm39) L477V probably benign Het
Zfp180 C T 7: 23,804,255 (GRCm39) R225C probably benign Het
Zfp180 G A 7: 23,803,841 (GRCm39) C85Y possibly damaging Het
Zfp180 G A 7: 23,804,420 (GRCm39) V280M possibly damaging Het
Zfp982 G A 4: 147,596,826 (GRCm39) C61Y probably benign Het
Other mutations in Tmtc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16