Incidental Mutation 'IGL02118:BC080695'
ID280460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC080695
Ensembl Gene ENSMUSG00000070618
Gene NamecDNA sequence BC080695
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02118
Quality Score
Status
Chromosome4
Chromosomal Location143551700-143573798 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 143571156 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 49 (T49S)
Ref Sequence ENSEMBL: ENSMUSP00000101400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105765] [ENSMUST00000105774]
Predicted Effect probably benign
Transcript: ENSMUST00000105765
AA Change: T49S

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101391
Gene: ENSMUSG00000070618
AA Change: T49S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 5e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105774
AA Change: T49S

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101400
Gene: ENSMUSG00000070618
AA Change: T49S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 5e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A T 9: 92,350,958 K45* probably null Het
Acox3 T C 5: 35,601,521 Y359H possibly damaging Het
Actn2 A G 13: 12,276,547 probably benign Het
Actr8 T C 14: 29,982,771 probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Aldob T A 4: 49,538,790 K243* probably null Het
Arfgap1 T C 2: 180,980,444 F274S possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cask T C X: 13,559,395 I471V probably damaging Het
Cdc42ep4 C T 11: 113,729,116 G150S probably benign Het
Cpne1 T G 2: 156,077,643 D278A possibly damaging Het
Gcn1l1 A G 5: 115,610,879 E1856G probably damaging Het
Gm8362 A T 14: 6,771,516 V159E probably damaging Het
Golga5 A G 12: 102,495,752 I700V possibly damaging Het
Ifi206 T C 1: 173,481,768 T221A probably benign Het
Ighv2-6-8 T C 12: 113,796,417 K24R possibly damaging Het
Morc1 T C 16: 48,587,104 L661P probably benign Het
Per2 G A 1: 91,424,309 T825I probably damaging Het
Prkar2b A G 12: 31,975,964 V19A probably damaging Het
Psmb8 T A 17: 34,201,224 D263E probably damaging Het
Pum2 T C 12: 8,729,117 I563T probably benign Het
Retreg1 T G 15: 25,966,623 probably null Het
Rfx7 A G 9: 72,617,204 T559A probably benign Het
Rnf31 T G 14: 55,599,112 I801S probably damaging Het
Rom1 G T 19: 8,929,022 T51N possibly damaging Het
Sema6b G T 17: 56,132,821 P7T probably benign Het
Stpg1 A G 4: 135,508,064 probably benign Het
Sugct A T 13: 17,452,520 Y249* probably null Het
Tbc1d21 C T 9: 58,360,463 V317M probably benign Het
Tcea2 A G 2: 181,685,835 I125V probably benign Het
Ttc39b T A 4: 83,297,949 D19V probably damaging Het
Tti2 T A 8: 31,155,509 probably null Het
Usp32 A T 11: 85,032,177 Y142* probably null Het
Vill A G 9: 119,060,398 Y134C probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zfp398 A G 6: 47,858,945 D14G probably damaging Het
Zfp598 T C 17: 24,677,617 Y223H probably damaging Het
Znhit6 G T 3: 145,578,104 C43F probably damaging Het
Other mutations in BC080695
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02533:BC080695 APN 4 143571002 utr 5 prime probably benign
R0352:BC080695 UTSW 4 143571308 splice site probably benign
R1600:BC080695 UTSW 4 143571967 missense possibly damaging 0.78
R3121:BC080695 UTSW 4 143571013 start codon destroyed probably null 1.00
R4005:BC080695 UTSW 4 143572269 missense probably benign 0.00
R4477:BC080695 UTSW 4 143571162 missense probably benign 0.21
R4639:BC080695 UTSW 4 143571897 missense probably benign 0.22
R4791:BC080695 UTSW 4 143570989 start gained probably benign
R5118:BC080695 UTSW 4 143571127 missense probably damaging 1.00
R5353:BC080695 UTSW 4 143571237 missense probably benign 0.00
R5861:BC080695 UTSW 4 143571240 missense probably benign
R6163:BC080695 UTSW 4 143572035 missense probably damaging 1.00
R6286:BC080695 UTSW 4 143571226 missense probably benign
R6958:BC080695 UTSW 4 143571259 missense probably damaging 1.00
R7391:BC080695 UTSW 4 143572306 missense probably damaging 1.00
R7625:BC080695 UTSW 4 143572251 missense probably benign 0.00
R8189:BC080695 UTSW 4 143571960 missense probably benign
R8190:BC080695 UTSW 4 143571960 missense probably benign
R8192:BC080695 UTSW 4 143571960 missense probably benign
R8219:BC080695 UTSW 4 143571960 missense probably benign
R8221:BC080695 UTSW 4 143571960 missense probably benign
R8223:BC080695 UTSW 4 143571960 missense probably benign
R8226:BC080695 UTSW 4 143571960 missense probably benign
Z1176:BC080695 UTSW 4 143572252 missense probably benign 0.00
Posted On2015-04-16