Incidental Mutation 'IGL01518:Isoc2b'
ID89370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isoc2b
Ensembl Gene ENSMUSG00000052605
Gene Nameisochorismatase domain containing 2b
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.227) question?
Stock #IGL01518
Quality Score
Status
Chromosome7
Chromosomal Location4844959-4870258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4850764 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 137 (S137F)
Ref Sequence ENSEMBL: ENSMUSP00000147085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064547] [ENSMUST00000208816]
Predicted Effect probably damaging
Transcript: ENSMUST00000064547
AA Change: S137F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066859
Gene: ENSMUSG00000052605
AA Change: S137F

DomainStartEndE-ValueType
Pfam:Isochorismatase 16 163 2.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208173
Predicted Effect probably damaging
Transcript: ENSMUST00000208816
AA Change: S137F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 66,304,054 V16G unknown Het
4933427I04Rik A T 4: 123,860,701 E136V probably benign Het
Aadac A G 3: 60,035,899 D75G probably damaging Het
Arfgap1 T A 2: 180,972,725 S125T probably benign Het
Atxn2 G T 5: 121,810,979 A813S probably damaging Het
Cadps C A 14: 12,522,352 S604I probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col4a4 T A 1: 82,455,759 M1488L unknown Het
Fndc3c1 T C X: 106,431,423 N941S probably damaging Het
Fryl T C 5: 73,086,962 Y1172C possibly damaging Het
Gm1527 T C 3: 28,895,588 probably benign Het
Hsf2 T C 10: 57,512,134 L458P probably damaging Het
Il2 T C 3: 37,123,007 T127A possibly damaging Het
Inpp5e A G 2: 26,397,934 Y617H probably damaging Het
Map2 C T 1: 66,425,331 P241S probably damaging Het
Mfsd6 C A 1: 52,709,322 R128L probably damaging Het
Mrnip A G 11: 50,197,635 T153A probably damaging Het
Olfr1269 A G 2: 90,118,971 F209S possibly damaging Het
Olfr26 A T 9: 38,855,799 M246L probably benign Het
Pi4ka T C 16: 17,280,735 N2022S probably benign Het
Scrt2 C A 2: 152,093,640 R238S probably damaging Het
St3gal6 T A 16: 58,484,775 D108V probably benign Het
Tmem132b C T 5: 125,778,791 T529M probably damaging Het
Trappc11 T C 8: 47,501,869 probably null Het
Tspyl1 T A 10: 34,283,199 S307T possibly damaging Het
Ush2a A G 1: 188,399,785 S735G probably benign Het
Wnk2 T C 13: 49,068,192 M1186V possibly damaging Het
Other mutations in Isoc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2112:Isoc2b UTSW 7 4849475 missense probably damaging 1.00
R2130:Isoc2b UTSW 7 4851439 missense probably damaging 0.96
R2193:Isoc2b UTSW 7 4850824 missense probably benign 0.00
R4411:Isoc2b UTSW 7 4849434 intron probably benign
R5355:Isoc2b UTSW 7 4849358 intron probably benign
R5497:Isoc2b UTSW 7 4850783 missense probably benign 0.02
R5831:Isoc2b UTSW 7 4851024 missense probably null 0.38
R5907:Isoc2b UTSW 7 4849578 splice site probably null
R6542:Isoc2b UTSW 7 4851455 missense probably damaging 1.00
R6766:Isoc2b UTSW 7 4851062 missense probably damaging 1.00
R6891:Isoc2b UTSW 7 4851488 missense probably damaging 0.99
Posted On2013-12-03