Incidental Mutation 'IGL03224:Cym'
ID413738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cym
Ensembl Gene ENSMUSG00000046213
Gene Namechymosin
SynonymsLOC229697, Gm131
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL03224
Quality Score
Status
Chromosome3
Chromosomal Location107211293-107221732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107218732 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 72 (S72G)
Ref Sequence ENSEMBL: ENSMUSP00000029504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029504]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029504
AA Change: S72G

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: S72G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:A1_Propeptide 19 45 1.5e-16 PFAM
Pfam:Asp 73 378 5.8e-110 PFAM
Pfam:TAXi_N 74 228 3.6e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik A G 7: 118,792,553 probably benign Het
Ash1l T C 3: 89,035,268 probably benign Het
Capn10 T G 1: 92,939,324 V92G probably damaging Het
Cntn2 A G 1: 132,523,042 C532R probably damaging Het
Csf1r T C 18: 61,112,062 F233L probably damaging Het
Cts6 T C 13: 61,201,733 D82G probably damaging Het
Cyp4a29 T A 4: 115,247,050 M105K probably damaging Het
Dhx35 T C 2: 158,857,132 probably benign Het
Dnah5 C A 15: 28,459,154 D4506E probably damaging Het
Dok5 T C 2: 170,832,887 F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 D2974G probably benign Het
Frem3 C T 8: 80,613,463 T795I probably damaging Het
Ints6l A G X: 56,497,927 T525A probably damaging Het
Lrp1b T C 2: 41,471,031 T587A possibly damaging Het
Meikin A G 11: 54,398,460 M220V probably benign Het
Mmp12 T A 9: 7,350,002 probably benign Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Myo3b A G 2: 70,349,939 Y1190C probably benign Het
Myo5c A G 9: 75,278,243 K963E probably benign Het
Nipbl T C 15: 8,293,085 D2614G probably damaging Het
Ppp1r3f A G X: 7,560,582 V480A probably benign Het
Prkcb A T 7: 122,516,924 K209* probably null Het
Rasgef1a A G 6: 118,089,806 probably benign Het
Ryr3 A T 2: 112,954,336 C233* probably null Het
Scn8a A G 15: 101,035,639 R1534G probably damaging Het
Slitrk3 A T 3: 73,049,930 L503H possibly damaging Het
Spag17 A G 3: 100,010,840 K380E possibly damaging Het
Spata31d1a A G 13: 59,701,026 V1096A possibly damaging Het
Synrg C T 11: 84,039,666 T1278M possibly damaging Het
Teddm1a G T 1: 153,892,017 V76F possibly damaging Het
Troap A G 15: 99,081,877 T365A probably benign Het
Other mutations in Cym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Cym APN 3 107214285 missense probably damaging 0.97
IGL02480:Cym APN 3 107213522 missense probably benign 0.00
R1466:Cym UTSW 3 107213458 missense probably damaging 1.00
R1466:Cym UTSW 3 107213458 missense probably damaging 1.00
R1753:Cym UTSW 3 107213425 missense possibly damaging 0.91
R1768:Cym UTSW 3 107213500 missense probably damaging 1.00
R1851:Cym UTSW 3 107218714 missense probably benign 0.20
R4093:Cym UTSW 3 107214266 missense probably benign 0.06
R4094:Cym UTSW 3 107214266 missense probably benign 0.06
R4114:Cym UTSW 3 107219749 missense probably damaging 1.00
R4583:Cym UTSW 3 107211402 missense probably damaging 1.00
R4782:Cym UTSW 3 107216097 missense possibly damaging 0.60
R5844:Cym UTSW 3 107219764 missense probably benign 0.02
R5953:Cym UTSW 3 107213467 missense probably damaging 1.00
R7133:Cym UTSW 3 107214214 missense probably damaging 1.00
R7298:Cym UTSW 3 107219693 missense probably benign 0.07
R7563:Cym UTSW 3 107214232 missense probably damaging 1.00
Posted On2016-08-02