Incidental Mutation 'R0344:Tmtc4'
ID 26461
Institutional Source Beutler Lab
Gene Symbol Tmtc4
Ensembl Gene ENSMUSG00000041594
Gene Name transmembrane and tetratricopeptide repeat containing 4
Synonyms 4930403J22Rik, 5730419O14Rik
MMRRC Submission 038551-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0344 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 123156383-123220697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123215572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 25 (V25M)
Ref Sequence ENSEMBL: ENSMUSP00000116480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037726] [ENSMUST00000126867] [ENSMUST00000128969] [ENSMUST00000143189] [ENSMUST00000148661]
AlphaFold Q8BG19
Predicted Effect probably damaging
Transcript: ENSMUST00000037726
AA Change: V25M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046368
Gene: ENSMUSG00000041594
AA Change: V25M

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 damaging
Transcript: ENSMUST00000126867
AA Change: V25M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116379
Gene: ENSMUSG00000041594
AA Change: V25M

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: ENSMUST00000128969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141478
Predicted Effect probably damaging
Transcript: ENSMUST00000143189
AA Change: V25M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116480
Gene: ENSMUSG00000041594
AA Change: V25M

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 damaging
Transcript: ENSMUST00000148661
AA Change: V25M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121523
Gene: ENSMUSG00000041594
AA Change: V25M

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: ENSMUST00000153496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228552
Meta Mutation Damage Score 0.1337 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.3%
  • 20x: 93.6%
Validation Efficiency 99% (81/82)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553J12Rik T A 16: 88,617,189 (GRCm39) C29* probably null Het
Abca4 G A 3: 121,877,613 (GRCm39) C324Y probably damaging Het
Ablim2 T G 5: 35,994,277 (GRCm39) probably benign Het
Abr A T 11: 76,369,870 (GRCm39) V115E probably damaging Het
Adgrl2 C T 3: 148,571,231 (GRCm39) probably null Het
Aff3 A T 1: 38,243,013 (GRCm39) S936T probably benign Het
Agap3 T C 5: 24,656,200 (GRCm39) probably benign Het
Ahrr T A 13: 74,362,705 (GRCm39) S393C probably damaging Het
Amfr T C 8: 94,713,998 (GRCm39) probably null Het
Ankrd26 C A 6: 118,484,598 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,668 (GRCm39) V886I probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C3ar1 T C 6: 122,827,731 (GRCm39) D162G probably benign Het
Camkk2 C T 5: 122,901,940 (GRCm39) C123Y probably benign Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Catsperg1 A T 7: 28,894,965 (GRCm39) V544E probably damaging Het
Cdc27 G A 11: 104,417,817 (GRCm39) probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dmac2l T C 12: 69,787,663 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gdap2 G A 3: 100,085,572 (GRCm39) G165S probably damaging Het
Gns A G 10: 121,219,328 (GRCm39) K352E probably benign Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Inpp1 A T 1: 52,838,513 (GRCm39) F45L probably damaging Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itgae A G 11: 73,008,973 (GRCm39) K485E probably benign Het
Jak2 G A 19: 29,261,029 (GRCm39) V342I probably damaging Het
Kptn C A 7: 15,859,666 (GRCm39) Q297K probably damaging Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nup133 A G 8: 124,644,185 (GRCm39) V727A possibly damaging Het
Oas2 T G 5: 120,881,152 (GRCm39) E313A probably damaging Het
Or10d4c G A 9: 39,558,646 (GRCm39) C208Y probably damaging Het
Or52b2 C A 7: 104,986,814 (GRCm39) M36I probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m8 T A 2: 85,822,726 (GRCm39) C188* probably null Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgap4 T C 4: 49,586,566 (GRCm39) T201A probably benign Het
Phldb1 C A 9: 44,612,964 (GRCm39) V919L probably benign Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Plekhg3 G T 12: 76,613,040 (GRCm39) E449* probably null Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Pstpip1 T C 9: 56,033,929 (GRCm39) V301A probably benign Het
Ptdss1 G A 13: 67,081,636 (GRCm39) R22H probably damaging Het
Ptprq A G 10: 107,541,443 (GRCm39) V361A probably benign Het
Ralgapa2 A T 2: 146,188,714 (GRCm39) V1309E possibly damaging Het
Rere T C 4: 150,695,438 (GRCm39) probably benign Het
Sbk3 T A 7: 4,970,404 (GRCm39) T322S possibly damaging Het
Scn9a T A 2: 66,335,354 (GRCm39) I1203L probably damaging Het
Setdb1 A T 3: 95,233,442 (GRCm39) probably benign Het
Sik3 C A 9: 46,120,109 (GRCm39) Q683K probably damaging Het
Slc24a5 A G 2: 124,927,621 (GRCm39) I307V probably benign Het
Smg6 A G 11: 74,820,647 (GRCm39) D306G probably damaging Het
Snx13 G A 12: 35,136,899 (GRCm39) W120* probably null Het
Snx5 A G 2: 144,099,128 (GRCm39) probably benign Het
Srsf5 T C 12: 80,994,298 (GRCm39) S76P probably benign Het
Stard6 A G 18: 70,629,186 (GRCm39) D31G probably damaging Het
Taf3 A G 2: 9,956,709 (GRCm39) M333T probably benign Het
Taf6 T G 5: 138,179,409 (GRCm39) I377L probably benign Het
Taf8 G T 17: 47,804,505 (GRCm39) N252K probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Topbp1 T A 9: 103,205,886 (GRCm39) D841E probably damaging Het
Topbp1 T A 9: 103,185,932 (GRCm39) probably benign Het
Ttn A T 2: 76,542,833 (GRCm39) D33384E probably damaging Het
Unc13c T C 9: 73,838,067 (GRCm39) E928G probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r63 A G 7: 42,553,042 (GRCm39) I738T probably damaging Het
Vmn2r87 C T 10: 130,315,806 (GRCm39) E87K probably damaging Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGACTTGCAGTCTTAGCAGAGGTATG -3'
(R):5'- GGCTTGCTTTAGGTAATGAGGTCCAC -3'

Sequencing Primer
(F):5'- GCAATGCAGTTAGGAGATCATAC -3'
(R):5'- GAGGTCCACTGCAAAATTGTACTTG -3'
Posted On 2013-04-16