Incidental Mutation 'IGL02442:Cym'
ID 293457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cym
Ensembl Gene ENSMUSG00000046213
Gene Name chymosin
Synonyms LOC229697, Gm131
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02442
Quality Score
Status
Chromosome 3
Chromosomal Location 107118611-107129048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107121601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 230 (D230E)
Ref Sequence ENSEMBL: ENSMUSP00000029504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029504]
AlphaFold B7ZWD6
Predicted Effect probably damaging
Transcript: ENSMUST00000029504
AA Change: D230E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: D230E

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,068,032 (GRCm39) E348G probably damaging Het
Ahnak G A 19: 8,981,380 (GRCm39) G888D probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap97d1 T C 11: 101,881,652 (GRCm39) V116A probably benign Het
Csde1 T C 3: 102,962,135 (GRCm39) C649R probably benign Het
Dnah1 A T 14: 31,009,835 (GRCm39) I1911N probably damaging Het
Fat1 A G 8: 45,403,360 (GRCm39) H37R probably benign Het
Ggt6 T C 11: 72,327,632 (GRCm39) V146A possibly damaging Het
Glud1 T A 14: 34,057,395 (GRCm39) L54* probably null Het
Grk6 A G 13: 55,606,750 (GRCm39) probably benign Het
Gsta4 G A 9: 78,116,447 (GRCm39) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm39) V620M probably damaging Het
Hspe1 T C 1: 55,128,201 (GRCm39) probably benign Het
Icmt T C 4: 152,383,173 (GRCm39) V76A possibly damaging Het
Ifrd1 A G 12: 40,266,316 (GRCm39) probably benign Het
Lgals12 T C 19: 7,584,019 (GRCm39) probably benign Het
Lypla1 T C 1: 4,902,610 (GRCm39) probably benign Het
Map1b A T 13: 99,644,706 (GRCm39) W66R probably damaging Het
Matn3 T A 12: 9,017,678 (GRCm39) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm39) R191W probably damaging Het
Mycbp2 T C 14: 103,551,811 (GRCm39) K140R probably benign Het
Ndfip1 C T 18: 38,580,789 (GRCm39) S66L probably damaging Het
Neu1 A G 17: 35,153,445 (GRCm39) I323V probably benign Het
Nup205 A T 6: 35,167,003 (GRCm39) T341S probably benign Het
Or4f7 G A 2: 111,644,336 (GRCm39) T245I probably benign Het
Or5b112 T A 19: 13,319,484 (GRCm39) C121S probably benign Het
Or5b3 T A 19: 13,388,351 (GRCm39) N139K probably benign Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Pkd1 T A 17: 24,784,200 (GRCm39) S249T probably benign Het
Plekhg3 A T 12: 76,625,127 (GRCm39) Q1324L probably benign Het
Ppara T A 15: 85,685,344 (GRCm39) V431E probably benign Het
Prkaa1 T G 15: 5,206,369 (GRCm39) H408Q probably damaging Het
Sap25 T A 5: 137,640,257 (GRCm39) N108K probably benign Het
Setd5 A C 6: 113,087,341 (GRCm39) I81L possibly damaging Het
Sinhcaf A T 6: 148,830,005 (GRCm39) probably null Het
Sri T A 5: 8,112,411 (GRCm39) M78K probably damaging Het
Tyro3 A G 2: 119,639,349 (GRCm39) N352S probably benign Het
Ubr5 T A 15: 38,038,145 (GRCm39) E332V possibly damaging Het
Vmn2r19 G T 6: 123,286,621 (GRCm39) V85F possibly damaging Het
Vmn2r53 A T 7: 12,315,656 (GRCm39) V721D probably damaging Het
Vwa5a A G 9: 38,646,080 (GRCm39) M483V probably benign Het
Zfp786 T A 6: 47,798,301 (GRCm39) Q212H probably benign Het
Other mutations in Cym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Cym APN 3 107,120,838 (GRCm39) missense probably benign 0.00
IGL03224:Cym APN 3 107,126,048 (GRCm39) missense possibly damaging 0.69
R1466:Cym UTSW 3 107,120,774 (GRCm39) missense probably damaging 1.00
R1466:Cym UTSW 3 107,120,774 (GRCm39) missense probably damaging 1.00
R1753:Cym UTSW 3 107,120,741 (GRCm39) missense possibly damaging 0.91
R1768:Cym UTSW 3 107,120,816 (GRCm39) missense probably damaging 1.00
R1851:Cym UTSW 3 107,126,030 (GRCm39) missense probably benign 0.20
R4093:Cym UTSW 3 107,121,582 (GRCm39) missense probably benign 0.06
R4094:Cym UTSW 3 107,121,582 (GRCm39) missense probably benign 0.06
R4114:Cym UTSW 3 107,127,065 (GRCm39) missense probably damaging 1.00
R4583:Cym UTSW 3 107,118,718 (GRCm39) missense probably damaging 1.00
R4782:Cym UTSW 3 107,123,413 (GRCm39) missense possibly damaging 0.60
R5844:Cym UTSW 3 107,127,080 (GRCm39) missense probably benign 0.02
R5953:Cym UTSW 3 107,120,783 (GRCm39) missense probably damaging 1.00
R7133:Cym UTSW 3 107,121,530 (GRCm39) missense probably damaging 1.00
R7298:Cym UTSW 3 107,127,009 (GRCm39) missense probably benign 0.07
R7563:Cym UTSW 3 107,121,548 (GRCm39) missense probably damaging 1.00
R8353:Cym UTSW 3 107,129,025 (GRCm39) start gained probably benign
R8365:Cym UTSW 3 107,120,182 (GRCm39) missense probably benign 0.13
R8670:Cym UTSW 3 107,118,812 (GRCm39) critical splice acceptor site probably null
R8728:Cym UTSW 3 107,125,991 (GRCm39) missense possibly damaging 0.91
R9598:Cym UTSW 3 107,126,941 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16