Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02442:Cym'

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: 0.062) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

107211293-107221732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 107214285 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	A	G	11: 80,177,206 (GRCm38)	E348G	probably damaging	Het
Ahnak	G	A	19: 9,004,016 (GRCm38)	G888D	probably damaging	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Cfap97d1	T	C	11: 101,990,826 (GRCm38)	V116A	probably benign	Het
Csde1	T	C	3: 103,054,819 (GRCm38)	C649R	probably benign	Het
Dnah1	A	T	14: 31,287,878 (GRCm38)	I1911N	probably damaging	Het
Fat1	A	G	8: 44,950,323 (GRCm38)	H37R	probably benign	Het
Ggt6	T	C	11: 72,436,806 (GRCm38)	V146A	possibly damaging	Het
Glud1	T	A	14: 34,335,438 (GRCm38)	L54*	probably null	Het
Grk6	A	G	13: 55,458,937 (GRCm38)		probably benign	Het
Gsta4	G	A	9: 78,209,165 (GRCm38)	V219I	probably benign	Het
Gucy1a2	G	A	9: 3,865,385 (GRCm38)	V620M	probably damaging	Het
Hspe1	T	C	1: 55,089,042 (GRCm38)		probably benign	Het
Icmt	T	C	4: 152,298,716 (GRCm38)	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,216,317 (GRCm38)		probably benign	Het
Lgals12	T	C	19: 7,606,654 (GRCm38)		probably benign	Het
Lypla1	T	C	1: 4,832,387 (GRCm38)		probably benign	Het
Map1b	A	T	13: 99,508,198 (GRCm38)	W66R	probably damaging	Het
Matn3	T	A	12: 8,967,678 (GRCm38)	C443*	probably null	Het
Mup8	T	A	4: 60,219,695 (GRCm38)	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,314,375 (GRCm38)	K140R	probably benign	Het
Ndfip1	C	T	18: 38,447,736 (GRCm38)	S66L	probably damaging	Het
Neu1	A	G	17: 34,934,469 (GRCm38)	I323V	probably benign	Het
Nup205	A	T	6: 35,190,068 (GRCm38)	T341S	probably benign	Het
Or4f7	G	A	2: 111,813,991 (GRCm38)	T245I	probably benign	Het
Or5b112	T	A	19: 13,342,120 (GRCm38)	C121S	probably benign	Het
Or5b3	T	A	19: 13,410,987 (GRCm38)	N139K	probably benign	Het
Ovch2	T	A	7: 107,796,548 (GRCm38)	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,565,226 (GRCm38)	S249T	probably benign	Het
Plekhg3	A	T	12: 76,578,353 (GRCm38)	Q1324L	probably benign	Het
Ppara	T	A	15: 85,801,143 (GRCm38)	V431E	probably benign	Het
Prkaa1	T	G	15: 5,176,888 (GRCm38)	H408Q	probably damaging	Het
Sap25	T	A	5: 137,641,995 (GRCm38)	N108K	probably benign	Het
Setd5	A	C	6: 113,110,380 (GRCm38)	I81L	possibly damaging	Het
Sinhcaf	A	T	6: 148,928,507 (GRCm38)		probably null	Het
Sri	T	A	5: 8,062,411 (GRCm38)	M78K	probably damaging	Het
Tyro3	A	G	2: 119,808,868 (GRCm38)	N352S	probably benign	Het
Ubr5	T	A	15: 38,037,901 (GRCm38)	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,309,662 (GRCm38)	V85F	possibly damaging	Het
Vmn2r53	A	T	7: 12,581,729 (GRCm38)	V721D	probably damaging	Het
Vwa5a	A	G	9: 38,734,784 (GRCm38)	M483V	probably benign	Het
Zfp786	T	A	6: 47,821,367 (GRCm38)	Q212H	probably benign	Het

Other mutations in Cym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02480:Cym	APN	3	107,213,522 (GRCm38)	missense	probably benign	0.00
IGL03224:Cym	APN	3	107,218,732 (GRCm38)	missense	possibly damaging	0.69
R1466:Cym	UTSW	3	107,213,458 (GRCm38)	missense	probably damaging	1.00
R1466:Cym	UTSW	3	107,213,458 (GRCm38)	missense	probably damaging	1.00
R1753:Cym	UTSW	3	107,213,425 (GRCm38)	missense	possibly damaging	0.91
R1768:Cym	UTSW	3	107,213,500 (GRCm38)	missense	probably damaging	1.00
R1851:Cym	UTSW	3	107,218,714 (GRCm38)	missense	probably benign	0.20
R4093:Cym	UTSW	3	107,214,266 (GRCm38)	missense	probably benign	0.06
R4094:Cym	UTSW	3	107,214,266 (GRCm38)	missense	probably benign	0.06
R4114:Cym	UTSW	3	107,219,749 (GRCm38)	missense	probably damaging	1.00
R4583:Cym	UTSW	3	107,211,402 (GRCm38)	missense	probably damaging	1.00
R4782:Cym	UTSW	3	107,216,097 (GRCm38)	missense	possibly damaging	0.60
R5844:Cym	UTSW	3	107,219,764 (GRCm38)	missense	probably benign	0.02
R5953:Cym	UTSW	3	107,213,467 (GRCm38)	missense	probably damaging	1.00
R7133:Cym	UTSW	3	107,214,214 (GRCm38)	missense	probably damaging	1.00
R7298:Cym	UTSW	3	107,219,693 (GRCm38)	missense	probably benign	0.07
R7563:Cym	UTSW	3	107,214,232 (GRCm38)	missense	probably damaging	1.00
R8353:Cym	UTSW	3	107,221,709 (GRCm38)	start gained	probably benign
R8365:Cym	UTSW	3	107,212,866 (GRCm38)	missense	probably benign	0.13
R8670:Cym	UTSW	3	107,211,496 (GRCm38)	critical splice acceptor site	probably null
R8728:Cym	UTSW	3	107,218,675 (GRCm38)	missense	possibly damaging	0.91
R9598:Cym	UTSW	3	107,219,625 (GRCm38)	missense	possibly damaging	0.94

Posted On

2015-04-16