Incidental Mutation 'IGL01518:Isoc2b'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Isoc2b
Ensembl Gene ENSMUSG00000052605
Gene Nameisochorismatase domain containing 2b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL01518
Quality Score
Chromosomal Location4844959-4870258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4850764 bp
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

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
R7475:Isoc2b UTSW 7 4851085 missense probably benign 0.01
Posted On2013-12-03