Incidental Mutation 'R7981:Tmco4'
ID 651202
Institutional Source Beutler Lab
Gene Symbol Tmco4
Ensembl Gene ENSMUSG00000041143
Gene Name transmembrane and coiled-coil domains 4
Synonyms 4632413C14Rik
MMRRC Submission 046022-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7981 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 138700199-138786482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 138785772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 614 (L614R)
Ref Sequence ENSEMBL: ENSMUSP00000041388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043042] [ENSMUST00000050949] [ENSMUST00000068036] [ENSMUST00000105802]
AlphaFold Q91WU4
Predicted Effect probably damaging
Transcript: ENSMUST00000043042
AA Change: L614R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
AA Change: L614R

DomainStartEndE-ValueType
Pfam:DUF726 182 518 1.1e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050949
AA Change: L614R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
AA Change: L614R

DomainStartEndE-ValueType
Pfam:DUF726 182 518 5.3e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068036
SMART Domains Protein: ENSMUSP00000068333
Gene: ENSMUSG00000028747

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:7tm_1 43 322 4.6e-63 PFAM
low complexity region 364 378 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 404 416 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105802
SMART Domains Protein: ENSMUSP00000101428
Gene: ENSMUSG00000028747

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:7tm_1 43 322 1.9e-72 PFAM
low complexity region 364 378 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 404 416 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,360 (GRCm39) F278I probably damaging Het
Abca8a T C 11: 109,980,739 (GRCm39) T100A probably benign Het
Adam34l A G 8: 44,078,850 (GRCm39) F458S probably damaging Het
Agbl1 A G 7: 76,094,588 (GRCm39) T740A unknown Het
Aldh1a2 A T 9: 71,171,102 (GRCm39) I197F probably damaging Het
Ankrd28 T C 14: 31,424,114 (GRCm39) T1009A probably benign Het
Antxrl T C 14: 33,787,838 (GRCm39) V287A probably damaging Het
Baiap2l1 G A 5: 144,294,700 (GRCm39) probably benign Het
Catsperd T C 17: 56,938,562 (GRCm39) V30A possibly damaging Het
Ccdc150 A T 1: 54,407,551 (GRCm39) K1109M probably damaging Het
Ccdc28a A G 10: 18,094,127 (GRCm39) L164P probably benign Het
Cnot1 C T 8: 96,489,797 (GRCm39) V469M probably damaging Het
Col16a1 T G 4: 129,980,347 (GRCm39) probably null Het
Coq9 A G 8: 95,569,285 (GRCm39) H39R probably benign Het
Crh T A 3: 19,748,216 (GRCm39) E142V probably benign Het
Depdc1a A G 3: 159,226,488 (GRCm39) N265S probably benign Het
Dlg5 T C 14: 24,208,213 (GRCm39) T998A probably benign Het
Epg5 T C 18: 78,052,929 (GRCm39) probably null Het
Gcc1 G A 6: 28,419,140 (GRCm39) L398F probably benign Het
Gde1 T C 7: 118,288,264 (GRCm39) T320A probably damaging Het
Gemin5 T C 11: 58,036,231 (GRCm39) D704G probably damaging Het
Gfi1 G A 5: 107,873,543 (GRCm39) probably benign Het
Insc A G 7: 114,428,302 (GRCm39) T92A probably damaging Het
Krtap6-2 T C 16: 89,216,562 (GRCm39) Y135C unknown Het
Lpcat2 T C 8: 93,582,182 (GRCm39) S34P probably damaging Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Mbl2 C A 19: 30,216,737 (GRCm39) T183K probably damaging Het
Mri1 A C 8: 84,983,792 (GRCm39) V33G possibly damaging Het
Mrps7 T C 11: 115,497,687 (GRCm39) M184T possibly damaging Het
Mug1 A T 6: 121,858,723 (GRCm39) Y1147F probably damaging Het
N4bp2 C T 5: 65,969,485 (GRCm39) H1416Y probably benign Het
Naa15 T C 3: 51,366,092 (GRCm39) F487S probably damaging Het
Nin C T 12: 70,089,591 (GRCm39) V1275I Het
Or4c116 A G 2: 88,942,400 (GRCm39) F152S probably damaging Het
Or55b3 A T 7: 102,127,036 (GRCm39) Y14N probably damaging Het
Pik3c2b A T 1: 133,003,547 (GRCm39) probably null Het
Pkn1 G T 8: 84,407,637 (GRCm39) N463K probably damaging Het
Pramel24 T G 4: 143,453,452 (GRCm39) F187V probably benign Het
Rab11fip3 C T 17: 26,216,963 (GRCm39) S816N probably damaging Het
Rassf4 G T 6: 116,617,218 (GRCm39) D262E probably damaging Het
Sec16a A G 2: 26,311,384 (GRCm39) probably null Het
Sspo A G 6: 48,445,428 (GRCm39) T2290A probably benign Het
Sumf1 A G 6: 108,129,186 (GRCm39) probably null Het
Syne1 T C 10: 5,179,248 (GRCm39) K4409E probably benign Het
Tasor T C 14: 27,168,373 (GRCm39) V305A possibly damaging Het
Tmem67 G T 4: 12,070,592 (GRCm39) N245K probably damaging Het
Trim58 T C 11: 58,542,138 (GRCm39) V366A probably benign Het
Vmn1r123 T C 7: 20,896,914 (GRCm39) S269P probably damaging Het
Vmn2r91 T A 17: 18,327,887 (GRCm39) S494T probably benign Het
Zbtb26 T A 2: 37,326,887 (GRCm39) I50L possibly 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
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
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'- TCCAGGATGGACAAAGCCAG -3'
(R):5'- TAGTCCTGCCTCCTAAAGCC -3'

Sequencing Primer
(F):5'- AGGGACCTGCCTCAGAAGAC -3'
(R):5'- TGCCTCCTAAAGCCAGTGC -3'
Posted On 2020-09-15