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

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107211293-107221732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107213467 bp (GRCm38)

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: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clec4a3	G	T	6: 122,969,492	V232L	probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951	I1936N		Het
Plekhm3	C	T	1: 64,937,895	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	probably benign	Het

Other mutations in Cym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Cym	APN	3	107214285	missense	probably damaging	0.97
IGL02480:Cym	APN	3	107213522	missense	probably benign	0.00
IGL03224:Cym	APN	3	107218732	missense	possibly damaging	0.69
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
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
R8353:Cym	UTSW	3	107221709	start gained	probably benign
R8365:Cym	UTSW	3	107212866	missense	probably benign	0.13
R8670:Cym	UTSW	3	107211496	critical splice acceptor site	probably null
R8728:Cym	UTSW	3	107218675	missense	possibly damaging	0.91
R9598:Cym	UTSW	3	107219625	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