Incidental Mutation 'R1495:Tmco5b'
ID 168761
Institutional Source Beutler Lab
Gene Symbol Tmco5b
Ensembl Gene ENSMUSG00000041255
Gene Name transmembrane and coiled-coil domains 5B
Synonyms 4930563P21Rik
MMRRC Submission 039546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1495 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 113285732-113297190 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113290791 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 147 (S147P)
Ref Sequence ENSEMBL: ENSMUSP00000042247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040856]
AlphaFold Q80X59
Predicted Effect possibly damaging
Transcript: ENSMUST00000040856
AA Change: S147P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: S147P

Pfam:TMCO5 28 306 5.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176208
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,477,820 (GRCm38) N488S probably benign Het
A430105I19Rik T G 2: 118,760,532 (GRCm38) K173N probably damaging Het
Acot10 G A 15: 20,665,507 (GRCm38) R383C probably damaging Het
Acsm2 A G 7: 119,578,126 (GRCm38) D263G probably damaging Het
Adcy2 G T 13: 68,796,535 (GRCm38) Q243K probably benign Het
Aggf1 G A 13: 95,356,413 (GRCm38) R563* probably null Het
Agt A G 8: 124,559,455 (GRCm38) F296S probably damaging Het
Akap14 T C X: 37,163,965 (GRCm38) D39G possibly damaging Het
Akt3 T C 1: 177,103,042 (GRCm38) M117V probably benign Het
Ankar T C 1: 72,643,291 (GRCm38) T1154A probably benign Het
Arvcf T A 16: 18,389,386 (GRCm38) L70Q probably damaging Het
Ccdc171 A T 4: 83,681,095 (GRCm38) K724* probably null Het
Ccdc91 A G 6: 147,534,172 (GRCm38) T85A possibly damaging Het
Cdh3 C T 8: 106,538,997 (GRCm38) T224I probably damaging Het
Clstn3 T C 6: 124,449,917 (GRCm38) I482V probably benign Het
Cnot9 A G 1: 74,523,600 (GRCm38) E176G probably damaging Het
Cntnap4 T G 8: 112,881,763 (GRCm38) L1272V possibly damaging Het
Cyb5a T A 18: 84,851,480 (GRCm38) M1K probably null Het
Cyp2c23 A G 19: 44,005,508 (GRCm38) I473T probably benign Het
Dbil5 T A 11: 76,218,450 (GRCm38) M60K probably benign Het
Dgkg A T 16: 22,500,379 (GRCm38) L644Q probably damaging Het
Disp3 T C 4: 148,249,825 (GRCm38) I1004V probably benign Het
Egf T A 3: 129,713,006 (GRCm38) I599F probably damaging Het
Epc2 A G 2: 49,536,663 (GRCm38) T145A probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,357,677 (GRCm38) probably benign Het
Extl3 A T 14: 65,075,867 (GRCm38) V622E probably benign Het
Fam227a C T 15: 79,626,245 (GRCm38) V403I probably benign Het
Fat2 T A 11: 55,262,673 (GRCm38) D3571V probably benign Het
Fcho2 A G 13: 98,749,850 (GRCm38) probably null Het
Fras1 A G 5: 96,528,586 (GRCm38) N64S possibly damaging Het
Gabbr1 A G 17: 37,055,940 (GRCm38) N352S possibly damaging Het
Gabra1 T C 11: 42,154,944 (GRCm38) N113S probably damaging Het
Glg1 T C 8: 111,197,675 (GRCm38) Y227C probably damaging Het
Gm14851 T A 8: 21,095,201 (GRCm38) Q75L probably benign Het
Gm5141 A T 13: 62,774,270 (GRCm38) C362S probably damaging Het
Gprc6a T A 10: 51,628,437 (GRCm38) T104S probably benign Het
Jph1 A C 1: 17,091,652 (GRCm38) V262G probably benign Het
Kank1 C G 19: 25,410,349 (GRCm38) T434R probably damaging Het
Kmt2e A G 5: 23,499,327 (GRCm38) S1173G possibly damaging Het
Krt75 G A 15: 101,573,873 (GRCm38) probably benign Het
Lyzl1 G T 18: 4,181,192 (GRCm38) W77L probably null Het
Nipbl T G 15: 8,351,280 (GRCm38) N676T probably benign Het
Obscn C T 11: 59,080,160 (GRCm38) S2300N probably damaging Het
Olfr459 T G 6: 41,771,903 (GRCm38) Y132S probably damaging Het
Osbpl1a T A 18: 12,758,839 (GRCm38) M350L probably benign Het
Pecam1 T C 11: 106,688,856 (GRCm38) D460G probably damaging Het
Pik3c2a T A 7: 116,388,065 (GRCm38) K540N probably benign Het
Prdm12 T A 2: 31,640,193 (GRCm38) I32N probably damaging Het
Prkd1 T C 12: 50,366,352 (GRCm38) S679G probably damaging Het
Psen2 C T 1: 180,228,854 (GRCm38) A393T probably damaging Het
Ptprh T A 7: 4,580,889 (GRCm38) T235S probably benign Het
Ranbp3 C T 17: 56,705,527 (GRCm38) P182L probably benign Het
Serpinb7 A T 1: 107,451,660 (GRCm38) K266* probably null Het
Sesn3 T C 9: 14,308,521 (GRCm38) S69P probably damaging Het
Slc12a6 T C 2: 112,354,190 (GRCm38) M818T probably damaging Het
Slc25a53 C A X: 137,015,335 (GRCm38) C4F unknown Het
Snx1 T A 9: 66,096,597 (GRCm38) L255F probably benign Het
Sptbn2 T G 19: 4,718,976 (GRCm38) S46A possibly damaging Het
Taf4 A G 2: 179,933,027 (GRCm38) F595S probably damaging Het
Tec A T 5: 72,786,755 (GRCm38) V103E probably damaging Het
Uchl5 C T 1: 143,799,937 (GRCm38) T93I possibly damaging Het
Usp14 A T 18: 10,004,994 (GRCm38) S225T probably benign Het
Usp45 C A 4: 21,797,385 (GRCm38) Q238K possibly damaging Het
Vmn1r6 T A 6: 57,003,073 (GRCm38) M218K possibly damaging Het
Zfp84 T A 7: 29,777,303 (GRCm38) Y473* probably null Het
Zyg11b G A 4: 108,266,213 (GRCm38) P186S probably damaging Het
Other mutations in Tmco5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Tmco5b APN 2 113,296,849 (GRCm38) missense probably damaging 0.99
IGL01160:Tmco5b APN 2 113,287,798 (GRCm38) splice site probably benign
IGL01501:Tmco5b APN 2 113,291,381 (GRCm38) missense probably null 0.81
IGL02244:Tmco5b APN 2 113,288,274 (GRCm38) missense probably damaging 1.00
IGL02899:Tmco5b APN 2 113,296,920 (GRCm38) missense probably benign 0.26
R4821:Tmco5b UTSW 2 113,289,757 (GRCm38) missense probably benign 0.00
R4972:Tmco5b UTSW 2 113,296,993 (GRCm38) missense probably damaging 0.99
R7076:Tmco5b UTSW 2 113,287,421 (GRCm38) missense probably damaging 1.00
R7200:Tmco5b UTSW 2 113,291,377 (GRCm38) missense probably damaging 1.00
R7750:Tmco5b UTSW 2 113,288,264 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13