Incidental Mutation 'IGL00847:BC049730'
ID12491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC049730
Ensembl Gene ENSMUSG00000045587
Gene NamecDNA sequence BC049730
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00847
Quality Score
Status
Chromosome7
Chromosomal Location24709242-24714535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24714248 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 230 (T230A)
Ref Sequence ENSEMBL: ENSMUSP00000053275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051714] [ENSMUST00000205376] [ENSMUST00000206826]
Predicted Effect probably benign
Transcript: ENSMUST00000051714
AA Change: T230A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000053275
Gene: ENSMUSG00000045587
AA Change: T230A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 141 219 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205376
Predicted Effect probably benign
Transcript: ENSMUST00000206826
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,152,290 E142G possibly damaging Het
Arid4a C T 12: 71,075,718 P958S probably damaging Het
Cct5 T C 15: 31,590,927 probably benign Het
Cntnap4 C T 8: 112,767,619 probably benign Het
Col4a3 C T 1: 82,717,869 L1597F probably damaging Het
Gla C A X: 134,595,198 V179L probably benign Het
Gm20422 A T 8: 69,742,992 C212* probably null Het
Hace1 T A 10: 45,672,357 Y14* probably null Het
Hcfc2 T A 10: 82,741,278 probably null Het
Helz2 T C 2: 181,232,245 D2152G possibly damaging Het
Mcm8 T G 2: 132,819,674 L74V probably benign Het
Myo18b A G 5: 112,830,389 probably benign Het
Ptprg A T 14: 12,215,265 N1084I probably damaging Het
Rad21l C A 2: 151,660,715 A192S probably benign Het
Scn2a A G 2: 65,670,734 D80G probably damaging Het
Serpinb3c A G 1: 107,276,260 probably null Het
Sgip1 A G 4: 102,928,921 probably benign Het
Slc25a41 G T 17: 57,034,957 probably null Het
Snx14 C A 9: 88,420,329 R140S probably damaging Het
Svs6 A C 2: 164,317,587 K90T possibly damaging Het
Tlcd1 T A 11: 78,180,088 Y168N probably damaging Het
Vps13d A G 4: 145,085,408 I3312T probably benign Het
Zfp11 A G 5: 129,657,914 V161A probably benign Het
Other mutations in BC049730
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:BC049730 APN 7 24714237 missense probably damaging 0.98
IGL01603:BC049730 APN 7 24712529 missense probably damaging 1.00
IGL03084:BC049730 APN 7 24714180 missense possibly damaging 0.80
R0453:BC049730 UTSW 7 24714287 missense probably benign 0.18
R0657:BC049730 UTSW 7 24713447 missense probably benign 0.00
R0946:BC049730 UTSW 7 24713742 missense probably benign 0.00
R1076:BC049730 UTSW 7 24713742 missense probably benign 0.00
R1081:BC049730 UTSW 7 24713542 unclassified probably null
R1926:BC049730 UTSW 7 24714116 missense probably damaging 1.00
R2571:BC049730 UTSW 7 24713394 missense probably benign 0.27
R3014:BC049730 UTSW 7 24713396 missense possibly damaging 0.93
R3832:BC049730 UTSW 7 24714287 missense probably benign 0.18
R4197:BC049730 UTSW 7 24713694 missense probably benign 0.01
R4705:BC049730 UTSW 7 24713509 missense probably damaging 0.99
R5609:BC049730 UTSW 7 24714286 missense possibly damaging 0.53
R6166:BC049730 UTSW 7 24714219 missense probably benign 0.00
R6385:BC049730 UTSW 7 24714110 missense probably damaging 0.97
R7477:BC049730 UTSW 7 24714248 missense probably benign 0.01
Posted On2012-12-06