Incidental Mutation 'R5040:Tmco4'
ID 393160
Institutional Source Beutler Lab
Gene Symbol Tmco4
Ensembl Gene ENSMUSG00000041143
Gene Name transmembrane and coiled-coil domains 4
Synonyms 4632413C14Rik
MMRRC Submission 042630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5040 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 138700199-138786482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 138747477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 242 (G242V)
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: G242V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
AA Change: G242V

DomainStartEndE-ValueType
Pfam:DUF726 182 518 1.1e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050949
AA Change: G242V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
AA Change: G242V

DomainStartEndE-ValueType
Pfam:DUF726 182 518 5.3e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124835
Meta Mutation Damage Score 0.8199 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,669,578 (GRCm39) Q159R probably benign Het
Ap2a1 T C 7: 44,555,228 (GRCm39) I446V possibly damaging Het
Areg A T 5: 91,292,198 (GRCm39) H166L possibly damaging Het
Arhgap15 T C 2: 43,734,825 (GRCm39) probably null Het
Arhgef17 T C 7: 100,526,032 (GRCm39) D874G probably benign Het
Cast T C 13: 74,872,932 (GRCm39) T452A probably damaging Het
Ccdc154 A T 17: 25,383,566 (GRCm39) T208S probably benign Het
Chst11 T A 10: 83,026,780 (GRCm39) L69Q probably benign Het
Clec2d G A 6: 129,161,793 (GRCm39) R142K probably damaging Het
Dis3l2 A T 1: 86,785,059 (GRCm39) I303F probably damaging Het
Dync2h1 A G 9: 6,992,625 (GRCm39) Y3979H probably benign Het
Ehmt1 A T 2: 24,774,316 (GRCm39) C162S probably benign Het
Eif4g3 G T 4: 137,824,200 (GRCm39) M239I probably damaging Het
Eif5 A G 12: 111,506,284 (GRCm39) D41G probably damaging Het
Elapor1 T A 3: 108,382,317 (GRCm39) D284V probably damaging Het
Fat1 C T 8: 45,476,417 (GRCm39) A1821V probably damaging Het
Fry G A 5: 150,312,319 (GRCm39) A745T probably damaging Het
Galnt9 T C 5: 110,765,771 (GRCm39) L491P probably damaging Het
Gata3 A G 2: 9,863,326 (GRCm39) L396P probably damaging Het
Gyg1 A G 3: 20,176,823 (GRCm39) probably benign Het
Hhip C A 8: 80,724,235 (GRCm39) V336L probably benign Het
Hipk2 G A 6: 38,707,816 (GRCm39) P660S possibly damaging Het
Hnrnpul1 G A 7: 25,442,414 (GRCm39) T276I possibly damaging Het
Ifnl2 G T 7: 28,208,511 (GRCm39) R147S possibly damaging Het
Ilvbl A G 10: 78,419,152 (GRCm39) D467G probably damaging Het
Kcnh1 A T 1: 192,187,783 (GRCm39) H748L probably benign Het
Lyg1 A C 1: 37,989,892 (GRCm39) probably benign Het
Mak A G 13: 41,183,574 (GRCm39) Y544H possibly damaging Het
Med1 A G 11: 98,046,230 (GRCm39) probably benign Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Myom3 T C 4: 135,516,970 (GRCm39) S847P probably damaging Het
Nprl2 T G 9: 107,419,599 (GRCm39) C9G probably null Het
Or5b125-ps1 T A 19: 13,056,307 (GRCm39) noncoding transcript Het
Pcmtd1 T C 1: 7,190,599 (GRCm39) Y23H probably damaging Het
Pkd1 C A 17: 24,790,234 (GRCm39) H972Q probably benign Het
Rbm26 A G 14: 105,358,452 (GRCm39) I929T probably benign Het
Scrn2 A G 11: 96,921,709 (GRCm39) T60A probably damaging Het
Setdb2 A T 14: 59,653,156 (GRCm39) I398N probably damaging Het
Setx A G 2: 29,029,350 (GRCm39) E206G probably damaging Het
Sez6 T C 11: 77,859,915 (GRCm39) probably null Het
Sh3bp4 C T 1: 89,071,962 (GRCm39) S270L probably damaging Het
Stac3 T C 10: 127,343,993 (GRCm39) I297T probably damaging Het
Styxl2 G A 1: 165,927,914 (GRCm39) T566I probably benign Het
Supv3l1 A T 10: 62,282,844 (GRCm39) V139E possibly damaging Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Tamalin G A 15: 101,126,923 (GRCm39) V134I probably damaging Het
Tcp10c T A 17: 13,588,453 (GRCm39) M344K possibly damaging Het
Tcstv7a C T 13: 120,290,025 (GRCm39) W57* probably null Het
Tmc1 A G 19: 20,801,394 (GRCm39) V502A possibly damaging Het
Trp53bp2 G A 1: 182,272,271 (GRCm39) R460H probably damaging Het
Virma T A 4: 11,528,746 (GRCm39) C1328S probably benign Het
Zfp366 A G 13: 99,364,875 (GRCm39) D12G probably damaging Het
Zfp457 C T 13: 67,440,899 (GRCm39) A463T probably benign 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
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
R5445:Tmco4 UTSW 4 138,748,178 (GRCm39) missense probably damaging 1.00
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'- AAAGGCATTGCTGGAAGCTC -3'
(R):5'- CAACAGCTTCTAAGGTTTGCTG -3'

Sequencing Primer
(F):5'- TCTATAGAAGGCAGCCCGTG -3'
(R):5'- CTAAGGTTTGCTGCAGGATTGGC -3'
Posted On 2016-06-15