Incidental Mutation 'IGL01501:Tmco5b'
ID88916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco5b
Ensembl Gene ENSMUSG00000041255
Gene Nametransmembrane and coiled-coil domains 5B
Synonyms4930563P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01501
Quality Score
Status
Chromosome2
Chromosomal Location113285732-113297190 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113291381 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 180 (K180R)
Ref Sequence ENSEMBL: ENSMUSP00000042247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040856]
Predicted Effect probably null
Transcript: ENSMUST00000040856
AA Change: K180R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: K180R

DomainStartEndE-ValueType
Pfam:TMCO5 28 306 5.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176208
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T A 8: 24,914,353 N212I probably damaging Het
Adgre4 T G 17: 55,802,002 probably benign Het
Amer3 G A 1: 34,588,317 V546M probably benign Het
Arfgef3 A G 10: 18,600,560 S1504P possibly damaging Het
D630003M21Rik G A 2: 158,201,067 A851V probably benign Het
Ddhd2 A T 8: 25,735,830 M500K probably damaging Het
Fig4 A G 10: 41,270,374 S191P probably benign Het
Gabrg3 T C 7: 56,724,466 T451A probably damaging Het
Gzme T A 14: 56,119,401 M35L probably damaging Het
Il6st A G 13: 112,480,059 I47V probably benign Het
Klk1b11 A T 7: 43,999,834 probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Olfr1307 A G 2: 111,944,518 *313Q probably null Het
Olfr152 T A 2: 87,783,136 W199R possibly damaging Het
Ptprz1 A T 6: 22,973,082 N283I probably damaging Het
Slc25a33 T C 4: 149,756,158 probably benign Het
Snap91 T C 9: 86,838,125 M120V probably damaging Het
Tbc1d8 G A 1: 39,389,335 R510C probably damaging Het
Thoc1 T C 18: 9,986,321 L351P possibly damaging Het
Zfp553 G T 7: 127,236,215 S314I probably damaging Het
Zgrf1 G A 3: 127,602,562 probably null Het
Other mutations in Tmco5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Tmco5b APN 2 113296849 missense probably damaging 0.99
IGL01160:Tmco5b APN 2 113287798 splice site probably benign
IGL02244:Tmco5b APN 2 113288274 missense probably damaging 1.00
IGL02899:Tmco5b APN 2 113296920 missense probably benign 0.26
R1495:Tmco5b UTSW 2 113290791 missense possibly damaging 0.93
R4821:Tmco5b UTSW 2 113289757 missense probably benign 0.00
R4972:Tmco5b UTSW 2 113296993 missense probably damaging 0.99
R7076:Tmco5b UTSW 2 113287421 missense probably damaging 1.00
R7200:Tmco5b UTSW 2 113291377 missense probably damaging 1.00
R7750:Tmco5b UTSW 2 113288264 missense probably damaging 0.99
Posted On2013-12-03