Incidental Mutation 'IGL01516:BC051142'
ID90377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC051142
Ensembl Gene ENSMUSG00000057246
Gene NamecDNA sequence BC051142
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.368) question?
Stock #IGL01516
Quality Score
Status
Chromosome17
Chromosomal Location34398820-34460734 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34449260 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 168 (D168G)
Ref Sequence ENSEMBL: ENSMUSP00000077685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078615] [ENSMUST00000097348] [ENSMUST00000114175] [ENSMUST00000139063] [ENSMUST00000223957]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078615
AA Change: D168G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: D168G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 144 167 N/A INTRINSIC
low complexity region 246 272 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
low complexity region 364 391 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097348
AA Change: D175G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: D175G

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 151 174 N/A INTRINSIC
low complexity region 253 279 N/A INTRINSIC
low complexity region 335 345 N/A INTRINSIC
low complexity region 371 398 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114175
AA Change: D166G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: D166G

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 142 165 N/A INTRINSIC
SCOP:d1i7qa_ 227 277 5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139063
SMART Domains Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000223765
AA Change: D175G
Predicted Effect probably benign
Transcript: ENSMUST00000223957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,690,734 S95P probably benign Het
Abca6 T A 11: 110,218,217 H709L possibly damaging Het
Bpifb1 A G 2: 154,218,252 Y455C probably benign Het
Clk1 G A 1: 58,414,404 T341I probably damaging Het
Corin A T 5: 72,454,487 Y77* probably null Het
Cps1 C T 1: 67,230,284 R1481C probably damaging Het
Cspg5 A G 9: 110,246,693 K166E probably benign Het
Dcxr A G 11: 120,725,758 probably null Het
Epha5 C A 5: 84,386,276 L65F probably damaging Het
Erbb4 T A 1: 68,328,245 K438* probably null Het
Gldc A T 19: 30,099,032 C1005S probably damaging Het
Hs3st5 C T 10: 36,833,051 T194I probably damaging Het
Hspa12a T A 19: 58,827,676 D45V probably benign Het
Il1rn C T 2: 24,349,539 T130I probably damaging Het
Klk1b22 G T 7: 44,116,308 C196F probably damaging Het
Lamp1 C T 8: 13,173,863 H332Y probably damaging Het
Limd2 T C 11: 106,159,044 T40A probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Mbd4 T C 6: 115,849,530 T167A probably damaging Het
Mitf T A 6: 98,010,390 probably null Het
Mlph A G 1: 90,939,390 D378G probably damaging Het
Mrgprb5 A T 7: 48,168,384 L201Q probably damaging Het
Myo5b A T 18: 74,627,195 I261F probably damaging Het
Olfr1413 A T 1: 92,573,443 I91F probably benign Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Paics T A 5: 76,956,731 L68I probably damaging Het
Pramef20 A G 4: 144,377,767 V56A probably damaging Het
Prkca C T 11: 107,961,602 V102M probably null Het
Ptpn21 G A 12: 98,715,189 T62I probably damaging Het
Ptpre A T 7: 135,664,999 E212V probably damaging Het
Rufy2 A C 10: 63,011,433 K539Q possibly damaging Het
Serpinb9d T A 13: 33,202,671 probably null Het
Smarcd1 T C 15: 99,712,213 F442L probably benign Het
Tas2r115 A G 6: 132,737,613 V125A probably damaging Het
Tmem154 C T 3: 84,684,590 H120Y probably benign Het
Tnrc6b A G 15: 80,902,622 K1321E possibly damaging Het
Trmt13 A G 3: 116,589,810 probably benign Het
Vmn1r19 T C 6: 57,404,872 F137L probably benign Het
Vmn1r202 T A 13: 22,501,462 T262S possibly damaging Het
Vmn2r57 A G 7: 41,399,946 V793A probably damaging Het
Wapl A G 14: 34,692,081 N300S probably damaging Het
Xpot T A 10: 121,590,222 probably null Het
Zfp784 G A 7: 5,036,037 probably benign Het
Zfyve26 G T 12: 79,287,851 P131Q probably benign Het
Other mutations in BC051142
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00668:BC051142 APN 17 34420420 unclassified probably benign
FR4304:BC051142 UTSW 17 34460055 unclassified probably benign
FR4304:BC051142 UTSW 17 34460077 unclassified probably benign
FR4340:BC051142 UTSW 17 34460060 nonsense probably null
FR4340:BC051142 UTSW 17 34460068 unclassified probably benign
FR4340:BC051142 UTSW 17 34460077 unclassified probably benign
FR4548:BC051142 UTSW 17 34460065 unclassified probably benign
FR4589:BC051142 UTSW 17 34460053 unclassified probably benign
FR4589:BC051142 UTSW 17 34460073 unclassified probably benign
FR4737:BC051142 UTSW 17 34460051 unclassified probably benign
FR4737:BC051142 UTSW 17 34460068 unclassified probably benign
FR4976:BC051142 UTSW 17 34460058 unclassified probably benign
FR4976:BC051142 UTSW 17 34460061 unclassified probably benign
R0046:BC051142 UTSW 17 34460121 critical splice donor site probably null
R0046:BC051142 UTSW 17 34460121 critical splice donor site probably null
R0523:BC051142 UTSW 17 34445499 critical splice donor site probably null
R0661:BC051142 UTSW 17 34459913 missense possibly damaging 0.90
R2224:BC051142 UTSW 17 34448763 splice site probably null
R2937:BC051142 UTSW 17 34421862 missense possibly damaging 0.92
R3932:BC051142 UTSW 17 34443443 missense possibly damaging 0.94
R4210:BC051142 UTSW 17 34460283 unclassified probably benign
R4924:BC051142 UTSW 17 34459977 missense probably damaging 0.96
R5055:BC051142 UTSW 17 34448796 missense possibly damaging 0.83
R5446:BC051142 UTSW 17 34440893 splice site probably null
R6147:BC051142 UTSW 17 34418923 missense possibly damaging 0.95
R6851:BC051142 UTSW 17 34460172 missense possibly damaging 0.66
R6866:BC051142 UTSW 17 34459961 missense possibly damaging 0.66
R7035:BC051142 UTSW 17 34460331 unclassified probably benign
R7077:BC051142 UTSW 17 34440882 missense possibly damaging 0.82
R7468:BC051142 UTSW 17 34417565 intron probably null
R7556:BC051142 UTSW 17 34437717 missense unknown
R7843:BC051142 UTSW 17 34449824 missense possibly damaging 0.92
Posted On2013-12-09