Incidental Mutation 'IGL01934:Tmtc4'
ID 180554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmtc4
Ensembl Gene ENSMUSG00000041594
Gene Name transmembrane and tetratricopeptide repeat containing 4
Synonyms 4930403J22Rik, 5730419O14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01934
Quality Score
Status
Chromosome 14
Chromosomal Location 123156383-123220697 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 123165047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 604 (L604*)
Ref Sequence ENSEMBL: ENSMUSP00000121523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037726] [ENSMUST00000126867] [ENSMUST00000143189] [ENSMUST00000148661]
AlphaFold Q8BG19
Predicted Effect probably null
Transcript: ENSMUST00000037726
AA Change: L604*
SMART Domains Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: L604*

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 174 191 N/A INTRINSIC
transmembrane domain 201 220 N/A INTRINSIC
transmembrane domain 227 249 N/A INTRINSIC
transmembrane domain 269 288 N/A INTRINSIC
Pfam:DUF1736 290 369 3e-35 PFAM
transmembrane domain 386 408 N/A INTRINSIC
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 442 464 N/A INTRINSIC
TPR 482 515 2.49e-5 SMART
TPR 516 549 9.03e-3 SMART
TPR 550 583 2.49e-5 SMART
TPR 584 617 2.63e-4 SMART
TPR 618 651 5.78e-1 SMART
TPR 652 685 2.19e-1 SMART
TPR 686 719 1.37e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126494
Predicted Effect probably null
Transcript: ENSMUST00000126867
AA Change: L604*
SMART Domains Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: L604*

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 174 191 N/A INTRINSIC
transmembrane domain 201 220 N/A INTRINSIC
transmembrane domain 227 249 N/A INTRINSIC
transmembrane domain 269 288 N/A INTRINSIC
Pfam:DUF1736 290 369 3e-35 PFAM
transmembrane domain 386 408 N/A INTRINSIC
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 442 464 N/A INTRINSIC
TPR 482 515 2.49e-5 SMART
TPR 516 549 9.03e-3 SMART
TPR 550 583 2.49e-5 SMART
TPR 584 617 2.63e-4 SMART
TPR 618 651 5.78e-1 SMART
TPR 652 685 2.19e-1 SMART
TPR 686 719 1.37e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135917
Predicted Effect probably benign
Transcript: ENSMUST00000143189
SMART Domains Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
transmembrane domain 100 122 N/A INTRINSIC
transmembrane domain 165 187 N/A INTRINSIC
transmembrane domain 200 219 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000148661
AA Change: L604*
SMART Domains Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: L604*

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 174 191 N/A INTRINSIC
transmembrane domain 201 220 N/A INTRINSIC
transmembrane domain 227 249 N/A INTRINSIC
transmembrane domain 269 288 N/A INTRINSIC
Pfam:DUF1736 292 366 4.4e-36 PFAM
transmembrane domain 386 408 N/A INTRINSIC
transmembrane domain 413 435 N/A INTRINSIC
transmembrane domain 442 464 N/A INTRINSIC
TPR 482 515 2.49e-5 SMART
TPR 516 549 9.03e-3 SMART
TPR 550 583 2.49e-5 SMART
TPR 584 617 2.63e-4 SMART
TPR 618 651 5.78e-1 SMART
TPR 652 685 2.19e-1 SMART
TPR 686 719 1.37e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162218
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,112 (GRCm39) K362E probably damaging Het
4932438H23Rik T A 16: 90,852,753 (GRCm39) T128S probably damaging Het
Aars1 T A 8: 111,774,650 (GRCm39) I593N probably damaging Het
Abca6 A T 11: 110,079,481 (GRCm39) N1224K probably benign Het
Abcc5 A T 16: 20,241,191 (GRCm39) probably benign Het
Adam7 A G 14: 68,770,048 (GRCm39) L35P probably damaging Het
Ahnak T A 19: 8,980,021 (GRCm39) L435Q probably damaging Het
Ankef1 A G 2: 136,394,451 (GRCm39) E620G possibly damaging Het
Aoc1l3 A T 6: 48,965,695 (GRCm39) I568F probably damaging Het
Ap3d1 A T 10: 80,545,092 (GRCm39) L1082* probably null Het
Atp6v0a4 T A 6: 38,028,481 (GRCm39) I712F possibly damaging Het
Bco1 T A 8: 117,822,784 (GRCm39) F5L possibly damaging Het
Cacna2d4 A T 6: 119,285,729 (GRCm39) S794C probably damaging Het
Camk2d T C 3: 126,628,304 (GRCm39) probably null Het
Capn15 T C 17: 26,181,998 (GRCm39) T604A probably damaging Het
Cd180 A T 13: 102,839,366 (GRCm39) D83V probably damaging Het
Ces1a C A 8: 93,759,278 (GRCm39) R286L probably damaging Het
Col6a6 A G 9: 105,575,858 (GRCm39) probably null Het
Crnkl1 A G 2: 145,773,202 (GRCm39) V148A probably benign Het
Epas1 A T 17: 87,131,157 (GRCm39) K312N probably damaging Het
Fbxw2 T C 2: 34,712,618 (GRCm39) S148G probably damaging Het
Fig4 T C 10: 41,104,108 (GRCm39) T791A probably benign Het
Galnt9 A T 5: 110,750,502 (GRCm39) I340F possibly damaging Het
Gfap G A 11: 102,785,286 (GRCm39) A230V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm454 T C 5: 138,205,424 (GRCm39) noncoding transcript Het
Il24 A T 1: 130,811,614 (GRCm39) L115Q probably damaging Het
Ipp C A 4: 116,367,852 (GRCm39) N28K probably damaging Het
Kalrn A T 16: 34,018,882 (GRCm39) probably null Het
Klf10 C T 15: 38,297,528 (GRCm39) V171M probably benign Het
Man1b1 T C 2: 25,235,523 (GRCm39) S350P probably benign Het
Mfsd4a T C 1: 131,974,049 (GRCm39) Y343C probably damaging Het
Mrpl58 C A 11: 115,301,555 (GRCm39) probably benign Het
Myo7b A G 18: 32,134,394 (GRCm39) probably null Het
Nbas T C 12: 13,339,880 (GRCm39) probably benign Het
Nisch A G 14: 30,898,696 (GRCm39) probably benign Het
Or1o2 A T 17: 37,542,439 (GRCm39) V274D probably damaging Het
Or52z14 T C 7: 103,253,182 (GRCm39) F107S probably damaging Het
Or5p69 A G 7: 107,967,368 (GRCm39) I224V probably damaging Het
Parva T A 7: 112,187,760 (GRCm39) C352* probably null Het
Ptf1a T A 2: 19,451,431 (GRCm39) C254S possibly damaging Het
R3hdm1 G T 1: 128,164,272 (GRCm39) R1062L probably benign Het
Rnf44 A G 13: 54,829,763 (GRCm39) V407A probably damaging Het
Shank3 T C 15: 89,434,049 (GRCm39) L1598P probably damaging Het
Slit2 T C 5: 48,395,747 (GRCm39) S717P possibly damaging Het
Tdpoz4 A G 3: 93,704,779 (GRCm39) K359E probably damaging Het
Tnfrsf21 A T 17: 43,376,078 (GRCm39) N488I probably benign Het
Tnfsf8 A G 4: 63,752,747 (GRCm39) probably benign Het
Tnpo3 A T 6: 29,575,019 (GRCm39) L382M probably benign Het
Tut1 T C 19: 8,931,355 (GRCm39) C18R probably damaging Het
Ugt8a A G 3: 125,708,424 (GRCm39) S229P probably benign Het
Usp22 T C 11: 61,046,114 (GRCm39) E476G probably damaging Het
Vill G T 9: 118,895,877 (GRCm39) A146S probably damaging Het
Vmn1r178 T C 7: 23,593,362 (GRCm39) Y137H probably damaging Het
Wdfy1 A T 1: 79,717,833 (GRCm39) W51R probably damaging Het
Zc3hav1 A T 6: 38,296,768 (GRCm39) probably null Het
Zfp236 A T 18: 82,651,245 (GRCm39) V889E probably damaging Het
Zscan20 T C 4: 128,486,277 (GRCm39) D141G possibly damaging Het
Other mutations in Tmtc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Tmtc4 APN 14 123,163,366 (GRCm39) splice site probably benign
IGL01408:Tmtc4 APN 14 123,163,366 (GRCm39) splice site probably benign
IGL01487:Tmtc4 APN 14 123,163,443 (GRCm39) missense probably benign 0.25
IGL01694:Tmtc4 APN 14 123,210,624 (GRCm39) missense possibly damaging 0.92
IGL02456:Tmtc4 APN 14 123,163,374 (GRCm39) critical splice donor site probably null
IGL03116:Tmtc4 APN 14 123,165,044 (GRCm39) missense probably benign 0.02
IGL03326:Tmtc4 APN 14 123,182,952 (GRCm39) missense probably damaging 0.99
PIT4403001:Tmtc4 UTSW 14 123,210,641 (GRCm39) missense probably benign 0.01
R0344:Tmtc4 UTSW 14 123,215,572 (GRCm39) missense probably damaging 1.00
R0630:Tmtc4 UTSW 14 123,163,502 (GRCm39) splice site probably benign
R0849:Tmtc4 UTSW 14 123,182,966 (GRCm39) missense possibly damaging 0.62
R1129:Tmtc4 UTSW 14 123,180,565 (GRCm39) critical splice donor site probably null
R1601:Tmtc4 UTSW 14 123,182,238 (GRCm39) missense probably benign 0.01
R1835:Tmtc4 UTSW 14 123,179,400 (GRCm39) critical splice acceptor site probably null
R1966:Tmtc4 UTSW 14 123,165,011 (GRCm39) missense probably benign 0.31
R2024:Tmtc4 UTSW 14 123,158,677 (GRCm39) missense probably benign 0.02
R2025:Tmtc4 UTSW 14 123,158,677 (GRCm39) missense probably benign 0.02
R2026:Tmtc4 UTSW 14 123,158,677 (GRCm39) missense probably benign 0.02
R2027:Tmtc4 UTSW 14 123,158,677 (GRCm39) missense probably benign 0.02
R2256:Tmtc4 UTSW 14 123,178,820 (GRCm39) missense probably benign 0.09
R2439:Tmtc4 UTSW 14 123,209,315 (GRCm39) missense probably damaging 1.00
R3001:Tmtc4 UTSW 14 123,170,230 (GRCm39) critical splice donor site probably null
R3002:Tmtc4 UTSW 14 123,170,230 (GRCm39) critical splice donor site probably null
R3894:Tmtc4 UTSW 14 123,158,731 (GRCm39) splice site probably null
R4561:Tmtc4 UTSW 14 123,200,710 (GRCm39) missense probably benign 0.21
R4926:Tmtc4 UTSW 14 123,210,618 (GRCm39) missense probably damaging 1.00
R5000:Tmtc4 UTSW 14 123,170,743 (GRCm39) missense possibly damaging 0.46
R5024:Tmtc4 UTSW 14 123,178,714 (GRCm39) splice site probably null
R5104:Tmtc4 UTSW 14 123,170,257 (GRCm39) missense probably damaging 0.99
R5200:Tmtc4 UTSW 14 123,182,969 (GRCm39) missense probably benign 0.05
R5536:Tmtc4 UTSW 14 123,170,291 (GRCm39) missense probably benign 0.09
R5677:Tmtc4 UTSW 14 123,187,911 (GRCm39) missense probably damaging 1.00
R5768:Tmtc4 UTSW 14 123,170,565 (GRCm39) missense possibly damaging 0.91
R6467:Tmtc4 UTSW 14 123,163,391 (GRCm39) missense possibly damaging 0.80
R7317:Tmtc4 UTSW 14 123,215,593 (GRCm39) missense probably benign 0.00
R7516:Tmtc4 UTSW 14 123,180,735 (GRCm39) missense possibly damaging 0.68
R7539:Tmtc4 UTSW 14 123,215,701 (GRCm39) splice site probably null
R7584:Tmtc4 UTSW 14 123,215,563 (GRCm39) missense probably benign 0.01
R7821:Tmtc4 UTSW 14 123,209,289 (GRCm39) missense probably benign
R7903:Tmtc4 UTSW 14 123,165,060 (GRCm39) missense probably benign 0.00
R8969:Tmtc4 UTSW 14 123,179,224 (GRCm39) splice site probably benign
R9239:Tmtc4 UTSW 14 123,165,078 (GRCm39) missense possibly damaging 0.81
R9381:Tmtc4 UTSW 14 123,163,441 (GRCm39) missense probably benign 0.00
R9513:Tmtc4 UTSW 14 123,209,204 (GRCm39) missense probably benign 0.01
R9581:Tmtc4 UTSW 14 123,187,998 (GRCm39) missense probably benign
R9592:Tmtc4 UTSW 14 123,170,815 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07