Mutagenetix > Incidental Mutation

Incidental Mutation 'R8365:Cym'

646129

Institutional Source

Beutler Lab

Gene Symbol

Cym

Ensembl Gene

ENSMUSG00000046213

Gene Name

chymosin

Synonyms

LOC229697, Gm131

MMRRC Submission

067736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8365 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107118611-107129048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107120182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 306 (I306L)

Ref Sequence

ENSEMBL: ENSMUSP00000029504 (fasta)

Gene Model

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

AlphaFold

B7ZWD6

Predicted Effect

probably benign
Transcript: ENSMUST00000029504
AA Change: I306L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: I306L

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

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,557,918 (GRCm39)	C79*	probably null	Het
Abcc9	A	T	6: 142,544,798 (GRCm39)	S1430T	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd17	T	C	5: 90,398,378 (GRCm39)	K1724R	possibly damaging	Het
Brf2	A	G	8: 27,618,566 (GRCm39)	S13P	possibly damaging	Het
Cfap46	T	A	7: 139,263,000 (GRCm39)	K18*	probably null	Het
Cyp2c66	A	T	19: 39,165,048 (GRCm39)	H343L	probably benign	Het
Cyp2d34	T	C	15: 82,504,874 (GRCm39)	Y62C	probably damaging	Het
D630045J12Rik	A	G	6: 38,172,570 (GRCm39)	S533P	probably benign	Het
Dnajc10	A	G	2: 80,176,902 (GRCm39)	Y619C	probably damaging	Het
Dnal1	T	A	12: 84,178,163 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,502,277 (GRCm39)	M914K	probably damaging	Het
Epb41l2	C	A	10: 25,317,584 (GRCm39)	Q34K	probably benign	Het
Esyt1	T	G	10: 128,352,422 (GRCm39)	N730H	possibly damaging	Het
Fbxo15	T	G	18: 84,980,739 (GRCm39)	I238S	probably damaging	Het
Foxn3	T	C	12: 99,307,727 (GRCm39)	K204E	probably damaging	Het
Gtf2i	G	A	5: 134,303,434 (GRCm39)	S279L	probably benign	Het
Hhatl	A	G	9: 121,618,931 (GRCm39)	M67T	probably damaging	Het
Itpkc	C	A	7: 26,911,777 (GRCm39)	R598L	probably damaging	Het
Itprid2	T	C	2: 79,492,689 (GRCm39)	S1079P	probably damaging	Het
Jkampl	A	T	6: 73,446,329 (GRCm39)	N73K	probably benign	Het
Kctd18	A	T	1: 57,998,311 (GRCm39)	I263N	probably damaging	Het
Map1a	T	A	2: 121,138,528 (GRCm39)	M3002K	probably damaging	Het
Med13l	T	A	5: 118,866,709 (GRCm39)	S588T	possibly damaging	Het
Pcdh8	T	A	14: 80,008,426 (GRCm39)	I46F	probably damaging	Het
Prdm6	T	C	18: 53,685,137 (GRCm39)	V392A	probably benign	Het
Ptprt	T	A	2: 161,743,451 (GRCm39)	I497F	probably benign	Het
Rorc	A	G	3: 94,282,366 (GRCm39)	H22R	probably benign	Het
Scaf8	A	G	17: 3,246,241 (GRCm39)	I777V	possibly damaging	Het
Shroom1	A	T	11: 53,356,468 (GRCm39)	R444*	probably null	Het
Srcap	C	T	7: 127,148,869 (GRCm39)	T2030I	probably damaging	Het
Srgap3	A	G	6: 112,793,695 (GRCm39)	S94P	probably damaging	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Ttc27	C	T	17: 75,054,669 (GRCm39)	T325I	probably damaging	Het
Ucp1	A	C	8: 84,020,628 (GRCm39)	H146P	probably damaging	Het
Vmn1r167	A	T	7: 23,204,200 (GRCm39)	I272N	probably benign	Het
Vmn2r1	T	C	3: 63,994,034 (GRCm39)	S127P	possibly damaging	Het
Vtcn1	A	G	3: 100,791,145 (GRCm39)	D61G	probably benign	Het
Zfp994	A	T	17: 22,420,227 (GRCm39)	C241S	probably 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
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
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'- GTGGCCACACAAAGAAGGTC -3'
(R):5'- TGTGTTGCTGAAAGCTGATACC -3'

Sequencing Primer
(F):5'- CATCCAAGAGGCCTGGTATTC -3'
(R):5'- GTTGCTGAAAGCTGATACCTCCAG -3'

Posted On

2020-09-02