Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Cym'

470991

Institutional Source

Beutler Lab

Gene Symbol

Cym

Ensembl Gene

ENSMUSG00000046213

Gene Name

chymosin

Synonyms

LOC229697, Gm131

MMRRC Submission

043245-MU

Accession Numbers

Essential gene?

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

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107118611-107129048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107120783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 274 (D274V)

Ref Sequence

ENSEMBL: ENSMUSP00000029504 (fasta)

Gene Model

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

AlphaFold

B7ZWD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029504
AA Change: D274V

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

SMART Domains

Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: D274V

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,960,241 (GRCm39)	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,780,416 (GRCm39)	L212P	probably damaging	Het
Adamts14	T	C	10: 61,043,225 (GRCm39)	T751A	probably damaging	Het
Adgrf2	T	C	17: 43,021,229 (GRCm39)	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285 (GRCm39)	E220G	probably benign	Het
Cd209d	A	T	8: 3,927,979 (GRCm39)		probably null	Het
Cenpp	T	C	13: 49,806,161 (GRCm39)	D2G	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Clec4a3	G	T	6: 122,946,451 (GRCm39)	V232L	probably benign	Het
Cntln	C	T	4: 84,968,156 (GRCm39)	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,206,220 (GRCm39)	T470S	probably benign	Het
Elac2	G	A	11: 64,890,049 (GRCm39)	C627Y	probably benign	Het
Emc7	T	A	2: 112,289,903 (GRCm39)	I111N	probably damaging	Het
Eya4	T	A	10: 23,027,871 (GRCm39)	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,062,153 (GRCm39)	S39F	probably damaging	Het
Fam234b	G	T	6: 135,202,705 (GRCm39)	R353L	possibly damaging	Het
Focad	A	G	4: 88,147,572 (GRCm39)	I404V	probably benign	Het
Il1rl1	T	A	1: 40,481,833 (GRCm39)	D180E	probably benign	Het
Il2rb	A	T	15: 78,369,182 (GRCm39)	C256*	probably null	Het
Intu	A	C	3: 40,633,980 (GRCm39)	L404F	probably damaging	Het
Jmy	G	A	13: 93,635,624 (GRCm39)	T64M	possibly damaging	Het
Mpl	C	A	4: 118,311,707 (GRCm39)	S302I	possibly damaging	Het
Mpl	T	A	4: 118,311,708 (GRCm39)	S302C	probably damaging	Het
Muc2	G	T	7: 141,287,951 (GRCm39)	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,437,617 (GRCm39)	H99Y	probably benign	Het
Or5b118	A	T	19: 13,448,732 (GRCm39)	I133F	possibly damaging	Het
Or6c216	C	G	10: 129,678,483 (GRCm39)	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,624,238 (GRCm39)	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,099,815 (GRCm39)	I1936N		Het
Plekhm3	C	T	1: 64,977,054 (GRCm39)	E139K	probably damaging	Het
Pomk	C	A	8: 26,473,076 (GRCm39)	L292F	probably damaging	Het
Ptpru	A	G	4: 131,504,148 (GRCm39)	I1103T	probably damaging	Het
Pygl	T	C	12: 70,266,401 (GRCm39)	D38G	probably damaging	Het
Rapsn	T	C	2: 90,872,308 (GRCm39)	V214A	probably benign	Het
S100a9	T	A	3: 90,600,234 (GRCm39)	K54M	probably damaging	Het
Sdk2	A	G	11: 113,684,570 (GRCm39)	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,464,780 (GRCm39)	N331S	probably damaging	Het
Snx9	T	A	17: 5,958,677 (GRCm39)	C252S	probably damaging	Het
Snx9	G	T	17: 5,958,678 (GRCm39)	C252F	probably damaging	Het
Trem1	A	T	17: 48,544,220 (GRCm39)	M82L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ATTGGCCACTTTTAACAAATGGGC -3'
(R):5'- TGGCGGTTCTAAGAAGAGGC -3'

Sequencing Primer
(F):5'- ACTTTTAACAAATGGGCTCACC -3'
(R):5'- CTCAAAGGAGGGATTTGGACTTCC -3'

Posted On

2017-03-31