Incidental Mutation 'IGL02456:Tmtc4'
ID 294192
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 # IGL02456
Quality Score
Status
Chromosome 14
Chromosomal Location 123156383-123220697 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 123163374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594

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
SMART Domains Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594

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 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
SMART Domains Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228661
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,584 (GRCm39) Y174* probably null Het
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Brip1 G T 11: 85,955,925 (GRCm39) L863I possibly damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gcm2 T C 13: 41,256,477 (GRCm39) Y424C probably benign Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Grn T A 11: 102,326,930 (GRCm39) D509E probably benign Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Rbm47 G A 5: 66,184,364 (GRCm39) R80C probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbc1d16 T G 11: 119,101,372 (GRCm39) H46P probably damaging Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E 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
IGL01934:Tmtc4 APN 14 123,165,047 (GRCm39) nonsense 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 2015-04-16