Mutagenetix > Incidental Mutation

Incidental Mutation 'R5844:Cym'

450576

Institutional Source

Beutler Lab

Gene Symbol

Cym

Ensembl Gene

ENSMUSG00000046213

Gene Name

chymosin

Synonyms

LOC229697, Gm131

MMRRC Submission

044062-MU

Accession Numbers

Essential gene?

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

Stock #

R5844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107118611-107129048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107127080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 25 (H25R)

Ref Sequence

ENSEMBL: ENSMUSP00000029504 (fasta)

Gene Model

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

AlphaFold

B7ZWD6

Predicted Effect

probably benign
Transcript: ENSMUST00000029504
AA Change: H25R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: H25R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,065 (GRCm39)	M1321L	probably benign	Het
Adra1a	C	T	14: 66,965,183 (GRCm39)	T391I	probably benign	Het
Atf7ip	C	A	6: 136,583,812 (GRCm39)	A1281D	probably damaging	Het
BC005624	T	C	2: 30,866,023 (GRCm39)	N141S	probably benign	Het
Catsperg2	A	T	7: 29,397,257 (GRCm39)	L1082Q	possibly damaging	Het
Cavin2	C	T	1: 51,328,998 (GRCm39)	R152C	probably damaging	Het
Ccdc33	C	T	9: 57,940,489 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,784,135 (GRCm39)	D466G	probably benign	Het
Cfap46	C	A	7: 139,230,858 (GRCm39)	M923I	probably damaging	Het
Chd1l	T	A	3: 97,479,883 (GRCm39)	K621N	probably benign	Het
Cnksr1	A	G	4: 133,955,575 (GRCm39)		probably benign	Het
Dagla	T	A	19: 10,248,489 (GRCm39)	D57V	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,029,038 (GRCm39)	D684V	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo10	A	T	4: 45,058,760 (GRCm39)	S326T	probably benign	Het
Galntl5	G	T	5: 25,391,091 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,453,232 (GRCm39)	R290G	possibly damaging	Het
Gtpbp3	A	G	8: 71,945,199 (GRCm39)	T425A	probably benign	Het
Hepacam2	A	G	6: 3,476,073 (GRCm39)	I284T	probably damaging	Het
Ifi205	A	C	1: 173,854,258 (GRCm39)		probably null	Het
Irs3	T	C	5: 137,642,548 (GRCm39)	T297A	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,039,036 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,697,542 (GRCm39)	S782G	probably benign	Het
Mis18a	G	A	16: 90,523,969 (GRCm39)		silent	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Myom2	G	A	8: 15,181,182 (GRCm39)		probably null	Het
Ntaq1	A	G	15: 58,017,056 (GRCm39)	N157S	probably benign	Het
Or13a1	A	T	6: 116,470,900 (GRCm39)	E110V	probably damaging	Het
Or5g25	A	G	2: 85,478,239 (GRCm39)	V142A	probably benign	Het
Pde3b	C	T	7: 114,108,106 (GRCm39)	T568I	probably benign	Het
Pip4p1	T	C	14: 51,166,499 (GRCm39)	T160A	probably benign	Het
Pkhd1	G	T	1: 20,451,685 (GRCm39)	D2203E	probably benign	Het
Ppp1r36	A	G	12: 76,473,566 (GRCm39)	K66E	possibly damaging	Het
Rfc1	C	A	5: 65,451,130 (GRCm39)	M319I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Runx1t1	T	C	4: 13,881,068 (GRCm39)	V456A	probably damaging	Het
Rxfp2	A	G	5: 149,966,589 (GRCm39)	K109R	probably benign	Het
Sgo2a	T	G	1: 58,055,556 (GRCm39)	V580G	probably damaging	Het
Skint9	T	C	4: 112,271,080 (GRCm39)	Q110R	probably benign	Het
Slc38a9	A	G	13: 112,868,035 (GRCm39)	Y507C	probably damaging	Het
Smarca4	T	A	9: 21,589,238 (GRCm39)		probably benign	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	A	C	11: 8,384,580 (GRCm39)	F1413V	probably damaging	Het
Trpm8	T	C	1: 88,312,433 (GRCm39)	*1105Q	probably null	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zim1	T	C	7: 6,681,115 (GRCm39)	R183G	probably benign	Het
Zmiz1	T	C	14: 25,657,354 (GRCm39)	S871P	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
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
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'- ATCTGTGCCTGAGAAGGTCTG -3'
(R):5'- AGCGAGTCTCTACCACACTG -3'

Sequencing Primer
(F):5'- TGCCGAGACACTCACATCTAGATAG -3'
(R):5'- ACCAGAGTGTAGTAGTTAATGACAC -3'

Posted On

2016-12-20