Mutagenetix > Incidental Mutation

Incidental Mutation 'R7563:Cym'

585242

Institutional Source

Beutler Lab

Gene Symbol

Cym

Ensembl Gene

ENSMUSG00000046213

Gene Name

chymosin

Synonyms

LOC229697, Gm131

MMRRC Submission

045655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107118611-107129048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107121548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 248 (Y248C)

Ref Sequence

ENSEMBL: ENSMUSP00000029504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029504]

AlphaFold

B7ZWD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029504
AA Change: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: Y248C

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,464 (GRCm39)	I98T	probably damaging	Het
Ahnak	T	C	19: 8,988,529 (GRCm39)	I3271T	probably damaging	Het
Aox1	G	A	1: 58,086,304 (GRCm39)	V70I	probably benign	Het
Ap1g2	A	G	14: 55,337,206 (GRCm39)	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1e	T	C	1: 154,347,162 (GRCm39)	K1064E	probably benign	Het
Capn11	T	A	17: 45,944,891 (GRCm39)	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220 (GRCm39)	I48V	probably damaging	Het
Ces1d	T	A	8: 93,904,667 (GRCm39)	I358F	probably benign	Het
Clgn	A	T	8: 84,147,185 (GRCm39)	N379I	probably damaging	Het
Epha8	T	C	4: 136,666,100 (GRCm39)	D352G	possibly damaging	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Fam219a	A	C	4: 41,569,208 (GRCm39)	V10G	probably benign	Het
Fbxl5	C	T	5: 43,978,891 (GRCm39)	V20I	probably benign	Het
Fbxl9	A	G	8: 106,042,388 (GRCm39)	C147R	probably benign	Het
Fscb	T	C	12: 64,520,059 (GRCm39)	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,496,659 (GRCm39)		probably null	Het
Grep1	A	T	17: 23,936,302 (GRCm39)	F8L	probably benign	Het
Helt	T	C	8: 46,746,630 (GRCm39)		probably benign	Het
Igkv8-27	G	T	6: 70,148,887 (GRCm39)	T89K	probably benign	Het
Ipo5	T	A	14: 121,183,567 (GRCm39)	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,212,464 (GRCm39)	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,632,680 (GRCm39)	P936S	probably benign	Het
Klrd1	A	G	6: 129,570,701 (GRCm39)	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,705,271 (GRCm39)	V1267A	probably damaging	Het
Marchf1	A	T	8: 66,920,965 (GRCm39)	Q214L	probably damaging	Het
Mlip	G	T	9: 77,020,279 (GRCm39)	H52N	probably damaging	Het
Oas1e	T	C	5: 120,927,021 (GRCm39)	R229G	probably benign	Het
Ogfr	T	A	2: 180,234,300 (GRCm39)		probably null	Het
Or4g16	T	C	2: 111,137,134 (GRCm39)	F195L	probably benign	Het
Or5m10	T	A	2: 85,717,482 (GRCm39)	Y113N	probably damaging	Het
Pde4d	T	C	13: 110,087,541 (GRCm39)	I636T	probably benign	Het
Pex5l	C	T	3: 33,008,625 (GRCm39)	V426I	probably damaging	Het
Pmfbp1	A	G	8: 110,252,006 (GRCm39)	K384E	possibly damaging	Het
Pramel22	A	T	4: 143,380,675 (GRCm39)	Y449*	probably null	Het
Prl6a1	T	G	13: 27,498,221 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,038 (GRCm39)	W344R	probably damaging	Het
Ptar1	T	A	19: 23,697,680 (GRCm39)	D397E	probably benign	Het
Qrsl1	G	A	10: 43,752,513 (GRCm39)	R437C	probably damaging	Het
Rab6a	G	T	7: 100,257,404 (GRCm39)		probably benign	Het
Samd14	C	A	11: 94,912,239 (GRCm39)	S205R	probably benign	Het
Sel1l3	T	C	5: 53,343,326 (GRCm39)	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,940,480 (GRCm39)	L669I	probably benign	Het
Ssc4d	A	G	5: 135,991,887 (GRCm39)	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,101,063 (GRCm39)	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,108,301 (GRCm39)	F417V	probably benign	Het
Top2a	T	C	11: 98,907,005 (GRCm39)	D212G	probably damaging	Het
Trim39	A	T	17: 36,571,807 (GRCm39)	V317E	probably damaging	Het
Uncx	G	A	5: 139,530,261 (GRCm39)	R113H	probably damaging	Het
Usp4	A	G	9: 108,256,543 (GRCm39)	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,510,000 (GRCm39)	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,491,200 (GRCm39)	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,182,770 (GRCm39)	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,340,245 (GRCm39)	W829R	probably damaging	Het
Zfp574	C	A	7: 24,780,777 (GRCm39)	H600N	possibly damaging	Het

Other mutations in Cym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Cym	APN	3	107,121,601 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TAGAACTGCTCAGCACGGTG -3'
(R):5'- CAGTGAAAGGCCTCTAGGTC -3'

Sequencing Primer
(F):5'- ACGGTGCCTCTGGGAAAG -3'
(R):5'- ATCTGCCTCGGGGATGC -3'

Posted On

2019-10-17