Incidental Mutation 'IGL02552:Csta2'
ID 298127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csta2
Ensembl Gene ENSMUSG00000095620
Gene Name cystatin A family member 2
Synonyms 2010005H15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # IGL02552
Quality Score
Status
Chromosome 16
Chromosomal Location 36041932-36077813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36073459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 15 (E15G)
Ref Sequence ENSEMBL: ENSMUSP00000139876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063539] [ENSMUST00000187183] [ENSMUST00000187742]
AlphaFold Q9D8D6
Predicted Effect probably damaging
Transcript: ENSMUST00000063539
AA Change: E15G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067712
Gene: ENSMUSG00000095620
AA Change: E15G

DomainStartEndE-ValueType
CY 1 97 7.85e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179338
Predicted Effect probably damaging
Transcript: ENSMUST00000187183
AA Change: E15G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140745
Gene: ENSMUSG00000095620
AA Change: E15G

DomainStartEndE-ValueType
CY 1 97 7.85e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187742
AA Change: E15G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139876
Gene: ENSMUSG00000095620
AA Change: E15G

DomainStartEndE-ValueType
CY 1 97 7.85e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,208,145 (GRCm39) L178S probably damaging Het
Abca12 A G 1: 71,333,906 (GRCm39) Y1199H probably damaging Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Apc T A 18: 34,446,035 (GRCm39) M977K possibly damaging Het
Arhgap30 T A 1: 171,235,324 (GRCm39) L566Q probably damaging Het
Arhgap40 T A 2: 158,388,721 (GRCm39) W552R probably benign Het
Astn1 C T 1: 158,332,965 (GRCm39) S349F possibly damaging Het
Bard1 T C 1: 71,104,815 (GRCm39) probably benign Het
Batf2 T A 19: 6,221,537 (GRCm39) Y116N probably benign Het
Bltp3b T A 10: 89,642,605 (GRCm39) L10* probably null Het
Cbx6 T C 15: 79,713,094 (GRCm39) H111R probably damaging Het
Cd44 T A 2: 102,679,076 (GRCm39) N242I probably benign Het
Cdnf C T 2: 3,525,012 (GRCm39) Q184* probably null Het
Chd2 C A 7: 73,097,068 (GRCm39) probably benign Het
Cmtm6 G A 9: 114,566,374 (GRCm39) V88M probably damaging Het
Col24a1 C A 3: 145,179,962 (GRCm39) S1151R possibly damaging Het
Degs1l T A 1: 180,882,463 (GRCm39) V75E possibly damaging Het
Dnajc2 T C 5: 21,988,061 (GRCm39) D6G probably damaging Het
Eif3a G A 19: 60,751,664 (GRCm39) probably benign Het
Fbn1 C A 2: 125,254,633 (GRCm39) C210F possibly damaging Het
Fmn2 T A 1: 174,523,286 (GRCm39) D1380E probably damaging Het
Fry A T 5: 150,304,375 (GRCm39) K588N probably damaging Het
Gm18856 G A 13: 14,139,805 (GRCm39) probably benign Het
Gpr37 G T 6: 25,688,686 (GRCm39) T137K probably benign Het
Gzmc T C 14: 56,472,039 (GRCm39) M1V probably null Het
Htr5a T C 5: 28,047,958 (GRCm39) V171A probably benign Het
Ints6l T C X: 55,500,557 (GRCm39) probably benign Het
Kcnma1 C T 14: 23,436,327 (GRCm39) probably null Het
Krt35 C T 11: 99,983,899 (GRCm39) G367D probably benign Het
Nlrp1b C T 11: 71,063,057 (GRCm39) V668I possibly damaging Het
Nlrp1b C T 11: 71,072,878 (GRCm39) V322I possibly damaging Het
Ntf3 T C 6: 126,078,823 (GRCm39) N228D probably damaging Het
Nup133 G A 8: 124,655,994 (GRCm39) R496W possibly damaging Het
Or4c10 T C 2: 89,760,903 (GRCm39) V250A probably benign Het
Or51i1 C A 7: 103,671,463 (GRCm39) G21W probably damaging Het
Pah C T 10: 87,414,707 (GRCm39) probably benign Het
Pan2 G T 10: 128,154,896 (GRCm39) W1112L probably damaging Het
Pkn3 G A 2: 29,970,879 (GRCm39) R209Q probably damaging Het
Plaa C T 4: 94,470,717 (GRCm39) probably null Het
Qprt C T 7: 126,708,027 (GRCm39) A135T probably damaging Het
Rbbp6 T G 7: 122,582,204 (GRCm39) S108A probably damaging Het
Smg1 T A 7: 117,795,117 (GRCm39) probably benign Het
Spink5 T A 18: 44,125,235 (GRCm39) C368S possibly damaging Het
Sptan1 T A 2: 29,908,486 (GRCm39) I1734N probably damaging Het
Stk38l C T 6: 146,669,031 (GRCm39) L170F probably damaging Het
Tesmin C T 19: 3,452,483 (GRCm39) probably benign Het
Tjp1 A T 7: 64,949,530 (GRCm39) C1697* probably null Het
Tmco4 T C 4: 138,785,690 (GRCm39) S587P probably benign Het
Tmem208 G A 8: 106,055,329 (GRCm39) probably null Het
Trim30d T C 7: 104,121,623 (GRCm39) Q224R probably damaging Het
Trpm7 T A 2: 126,682,699 (GRCm39) D390V probably damaging Het
Uba7 A G 9: 107,858,589 (GRCm39) I807V probably benign Het
Utp18 C A 11: 93,759,160 (GRCm39) C438F probably damaging Het
Vps13d T C 4: 144,899,707 (GRCm39) K191E possibly damaging Het
Wdr27 A G 17: 15,146,453 (GRCm39) S181P probably damaging Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Csta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0520:Csta2 UTSW 16 36,073,461 (GRCm39) missense probably benign 0.03
R1294:Csta2 UTSW 16 36,077,618 (GRCm39) missense probably damaging 0.98
R4899:Csta2 UTSW 16 36,077,731 (GRCm39) missense possibly damaging 0.83
Posted On 2015-04-16