Incidental Mutation 'IGL03302:Tmco5'
ID416257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco5
Ensembl Gene ENSMUSG00000027355
Gene Nametransmembrane and coiled-coil domains 5
Synonyms1700095F04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03302
Quality Score
Status
Chromosome2
Chromosomal Location116878691-116892494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116892279 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 294 (T294S)
Ref Sequence ENSEMBL: ENSMUSP00000028834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028834] [ENSMUST00000123598] [ENSMUST00000155470]
Predicted Effect probably damaging
Transcript: ENSMUST00000028834
AA Change: T294S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028834
Gene: ENSMUSG00000027355
AA Change: T294S

DomainStartEndE-ValueType
Pfam:TMCO5 28 302 6.6e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123598
SMART Domains Protein: ENSMUSP00000115690
Gene: ENSMUSG00000027355

DomainStartEndE-ValueType
Pfam:TMCO5 27 250 3e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146144
Predicted Effect probably benign
Transcript: ENSMUST00000155470
SMART Domains Protein: ENSMUSP00000122739
Gene: ENSMUSG00000027355

DomainStartEndE-ValueType
Pfam:TMCO5 27 164 1.8e-47 PFAM
Pfam:TMCO5 161 226 1.5e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,967,750 Y542F possibly damaging Het
Ankrd34b A T 13: 92,439,643 N461I possibly damaging Het
Ccl24 T C 5: 135,570,878 K93E probably benign Het
Ccr9 T A 9: 123,779,536 D94E probably damaging Het
Cd79a G A 7: 24,899,334 V103M probably damaging Het
Ces1e A G 8: 93,223,893 probably null Het
Cul9 T C 17: 46,526,640 E993G probably damaging Het
Cyp4a14 T C 4: 115,491,378 I330V probably benign Het
Cyp7a1 T C 4: 6,273,801 D35G probably benign Het
Dmpk C A 7: 19,086,486 probably benign Het
Gcnt1 G T 19: 17,329,183 R393S probably benign Het
Lctl C T 9: 64,134,848 probably benign Het
Mttp A T 3: 138,104,707 I664N possibly damaging Het
Myh1 C T 11: 67,211,502 A873V probably benign Het
Nedd9 A G 13: 41,338,854 V54A probably damaging Het
Olfr1306 A T 2: 111,912,822 V36E possibly damaging Het
Olfr401 T G 11: 74,121,633 C115G possibly damaging Het
Olfr449 G T 6: 42,838,003 E41* probably null Het
Pak6 A T 2: 118,693,303 E313V probably benign Het
Pla2g4a A G 1: 149,864,947 S402P probably benign Het
Polq T C 16: 37,071,772 M2012T probably damaging Het
Ppp1r12b A T 1: 134,838,050 probably benign Het
Rbp3 A G 14: 33,954,659 H188R probably damaging Het
Rps6ka2 C A 17: 7,299,388 Q682K possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Spag4 A G 2: 156,068,420 Q322R probably damaging Het
Spef2 T C 15: 9,676,380 T702A probably benign Het
Taf3 G T 2: 9,952,131 F408L probably damaging Het
Tead2 T G 7: 45,232,899 Y121D possibly damaging Het
Thegl T G 5: 77,054,576 S281R probably benign Het
Trim37 A G 11: 87,147,001 E187G possibly damaging Het
Ubb T A 11: 62,552,417 L91Q probably damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Zan T C 5: 137,468,390 S402G possibly damaging Het
Zc3h7a T A 16: 11,141,710 H793L probably damaging Het
Zfhx4 C T 3: 5,403,713 T2977I possibly damaging Het
Other mutations in Tmco5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01787:Tmco5 APN 2 116887300 missense probably damaging 1.00
R0054:Tmco5 UTSW 2 116887287 missense probably damaging 0.98
R0054:Tmco5 UTSW 2 116887287 missense probably damaging 0.98
R0369:Tmco5 UTSW 2 116880788 splice site probably null
R0485:Tmco5 UTSW 2 116890107 missense probably benign 0.15
R0973:Tmco5 UTSW 2 116883218 missense probably benign 0.04
R0973:Tmco5 UTSW 2 116883218 missense probably benign 0.04
R0974:Tmco5 UTSW 2 116883218 missense probably benign 0.04
R1622:Tmco5 UTSW 2 116880315 missense probably benign 0.28
R1838:Tmco5 UTSW 2 116880879 missense probably damaging 1.00
R2060:Tmco5 UTSW 2 116892255 missense probably damaging 1.00
R3761:Tmco5 UTSW 2 116887306 splice site probably null
R4514:Tmco5 UTSW 2 116880314 missense probably damaging 1.00
R4911:Tmco5 UTSW 2 116892208 missense possibly damaging 0.92
R7373:Tmco5 UTSW 2 116886745 missense probably benign 0.09
R7682:Tmco5 UTSW 2 116886271 missense probably benign 0.35
R7752:Tmco5 UTSW 2 116892262 missense probably damaging 0.99
R8342:Tmco5 UTSW 2 116880253 missense probably damaging 1.00
Posted On2016-08-02