Incidental Mutation 'R5445:Tmco4'
ID 427390
Institutional Source Beutler Lab
Gene Symbol Tmco4
Ensembl Gene ENSMUSG00000041143
Gene Name transmembrane and coiled-coil domains 4
Synonyms 4632413C14Rik
MMRRC Submission 043010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5445 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 138700199-138786482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138748178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 253 (M253V)
Ref Sequence ENSEMBL: ENSMUSP00000059320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043042] [ENSMUST00000050949]
AlphaFold Q91WU4
Predicted Effect probably damaging
Transcript: ENSMUST00000043042
AA Change: M253V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
AA Change: M253V

DomainStartEndE-ValueType
Pfam:DUF726 182 518 1.1e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050949
AA Change: M253V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
AA Change: M253V

DomainStartEndE-ValueType
Pfam:DUF726 182 518 5.3e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124835
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,978,557 (GRCm39) D300E probably damaging Het
Apbb1ip T C 2: 22,725,960 (GRCm39) V244A possibly damaging Het
Arhgap32 T C 9: 32,159,678 (GRCm39) S232P probably benign Het
Atf7ip G A 6: 136,564,255 (GRCm39) V833M probably damaging Het
Casp7 A G 19: 56,421,770 (GRCm39) probably null Het
Ccdc9b T C 2: 118,590,067 (GRCm39) D259G probably damaging Het
Celsr2 T A 3: 108,299,974 (GRCm39) E2911D probably benign Het
Cep350 T C 1: 155,770,469 (GRCm39) D1807G probably benign Het
Cfap251 C T 5: 123,425,240 (GRCm39) T294M probably damaging Het
Chrd A G 16: 20,557,660 (GRCm39) T753A possibly damaging Het
Clasp2 A G 9: 113,733,014 (GRCm39) D971G probably damaging Het
Cnnm2 A G 19: 46,865,727 (GRCm39) T772A possibly damaging Het
Cntn1 A T 15: 92,192,958 (GRCm39) N687Y probably damaging Het
Col6a3 G A 1: 90,709,761 (GRCm39) R1812* probably null Het
Dsc2 T C 18: 20,168,360 (GRCm39) I700V possibly damaging Het
Flt3 G A 5: 147,291,905 (GRCm39) Q540* probably null Het
Fmo4 T A 1: 162,632,842 (GRCm39) I170F probably benign Het
Fra10ac1 T A 19: 38,207,910 (GRCm39) D72V possibly damaging Het
Garin2 G A 12: 78,761,890 (GRCm39) E185K probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm2381 T G 7: 42,469,425 (GRCm39) H233P probably damaging Het
Gm5148 T A 3: 37,768,995 (GRCm39) Q75L probably damaging Het
Gm8369 T C 19: 11,482,170 (GRCm39) V27A possibly damaging Het
Gpr157 T C 4: 150,186,825 (GRCm39) S318P probably benign Het
Hectd4 G A 5: 121,404,337 (GRCm39) V405M probably benign Het
Hemgn T C 4: 46,400,738 (GRCm39) R41G probably benign Het
Hhipl1 T A 12: 108,294,467 (GRCm39) L791Q probably damaging Het
Hjurp T G 1: 88,194,038 (GRCm39) K290T probably benign Het
Ifi207 T C 1: 173,555,363 (GRCm39) E773G probably damaging Het
Kcnh6 T C 11: 105,914,685 (GRCm39) Y697H probably damaging Het
Lonrf2 T C 1: 38,846,234 (GRCm39) T313A probably benign Het
Lrba G T 3: 86,275,902 (GRCm39) V1757L probably benign Het
Lrrc24 T C 15: 76,600,306 (GRCm39) T278A probably benign Het
Ltbp2 T C 12: 84,856,428 (GRCm39) I679V probably null Het
Mapk4 G T 18: 74,064,073 (GRCm39) T383K probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mia3 A G 1: 183,117,471 (GRCm39) V208A probably benign Het
Myo15a C A 11: 60,411,603 (GRCm39) C3234* probably null Het
Nlrp1b G T 11: 71,108,701 (GRCm39) Q267K probably benign Het
Nphp3 A G 9: 103,881,922 (GRCm39) K37E probably damaging Het
Nwd2 T C 5: 63,962,681 (GRCm39) M755T probably damaging Het
Or10u4 T A 10: 129,802,158 (GRCm39) H137L probably benign Het
Or52ac1 A G 7: 104,246,028 (GRCm39) F120S probably damaging Het
Or5p58 A G 7: 107,693,949 (GRCm39) V276A possibly damaging Het
Pdlim5 C T 3: 142,058,495 (GRCm39) R83K probably null Het
Plekha5 A T 6: 140,498,459 (GRCm39) R173* probably null Het
Pramel25 T A 4: 143,521,707 (GRCm39) V441E possibly damaging Het
Rbms3 T A 9: 117,080,853 (GRCm39) D6V possibly damaging Het
Rhoq A T 17: 87,271,755 (GRCm39) Y57F probably benign Het
Rrm1 A T 7: 102,100,230 (GRCm39) T204S possibly damaging Het
Slf1 A T 13: 77,239,323 (GRCm39) I447N probably benign Het
Smarcc2 T A 10: 128,323,943 (GRCm39) probably benign Het
Spdye4c C T 2: 128,438,484 (GRCm39) Q281* probably null Het
Tert T A 13: 73,792,403 (GRCm39) M890K probably benign Het
Tln1 C A 4: 43,543,905 (GRCm39) R1198L probably benign Het
Usp19 G T 9: 108,375,119 (GRCm39) V782F possibly damaging Het
Usp33 T A 3: 152,080,260 (GRCm39) S464T probably damaging Het
Usp47 A T 7: 111,673,928 (GRCm39) Y397F probably damaging Het
Vmn1r12 A G 6: 57,136,466 (GRCm39) T144A probably benign Het
Vmn2r90 A T 17: 17,954,386 (GRCm39) H850L probably benign Het
Zfhx3 A T 8: 109,682,842 (GRCm39) Q3427L unknown Het
Zfp236 G T 18: 82,700,281 (GRCm39) Q63K probably benign Het
Zfp7 T A 15: 76,775,054 (GRCm39) C365* probably null Het
Zfp786 T C 6: 47,796,619 (GRCm39) E773G probably damaging Het
Other mutations in Tmco4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Tmco4 APN 4 138,723,885 (GRCm39) critical splice donor site probably null
IGL01346:Tmco4 APN 4 138,748,260 (GRCm39) missense probably damaging 0.97
IGL02552:Tmco4 APN 4 138,785,690 (GRCm39) missense probably benign 0.00
IGL02644:Tmco4 APN 4 138,737,920 (GRCm39) splice site probably benign
IGL02676:Tmco4 APN 4 138,750,380 (GRCm39) critical splice donor site probably null
IGL02741:Tmco4 APN 4 138,757,188 (GRCm39) missense probably damaging 1.00
R0116:Tmco4 UTSW 4 138,781,231 (GRCm39) missense probably damaging 1.00
R0611:Tmco4 UTSW 4 138,747,383 (GRCm39) missense probably damaging 1.00
R4034:Tmco4 UTSW 4 138,748,172 (GRCm39) missense probably damaging 1.00
R4612:Tmco4 UTSW 4 138,717,871 (GRCm39) missense probably benign
R4785:Tmco4 UTSW 4 138,725,350 (GRCm39) missense probably damaging 0.97
R4981:Tmco4 UTSW 4 138,718,012 (GRCm39) missense possibly damaging 0.63
R5040:Tmco4 UTSW 4 138,747,477 (GRCm39) missense probably damaging 1.00
R5052:Tmco4 UTSW 4 138,785,817 (GRCm39) missense probably benign
R5074:Tmco4 UTSW 4 138,785,433 (GRCm39) missense probably damaging 0.98
R5364:Tmco4 UTSW 4 138,779,815 (GRCm39) missense probably damaging 0.99
R5598:Tmco4 UTSW 4 138,781,216 (GRCm39) missense probably damaging 1.00
R6959:Tmco4 UTSW 4 138,737,810 (GRCm39) missense probably damaging 0.99
R7539:Tmco4 UTSW 4 138,749,010 (GRCm39) missense probably benign 0.33
R7662:Tmco4 UTSW 4 138,737,872 (GRCm39) missense probably benign 0.00
R7981:Tmco4 UTSW 4 138,785,772 (GRCm39) missense probably damaging 1.00
R7996:Tmco4 UTSW 4 138,748,172 (GRCm39) missense probably damaging 1.00
R8543:Tmco4 UTSW 4 138,781,251 (GRCm39) missense probably benign 0.01
R9460:Tmco4 UTSW 4 138,747,387 (GRCm39) missense probably damaging 1.00
R9551:Tmco4 UTSW 4 138,779,895 (GRCm39) missense probably damaging 1.00
R9552:Tmco4 UTSW 4 138,779,895 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAGATCTAGTGGCCTTG -3'
(R):5'- TCTCTGTGAAATGAGCCTCCC -3'

Sequencing Primer
(F):5'- GGGCAGTGTCTTCCTATCCTGTAATC -3'
(R):5'- GTGAAATGAGCCTCCCATTCC -3'
Posted On 2016-09-01