Mutagenetix > Incidental Mutation

Incidental Mutation 'R1768:Cym'

194546

Institutional Source

Beutler Lab

Gene Symbol

Cym

Ensembl Gene

ENSMUSG00000046213

Gene Name

chymosin

Synonyms

LOC229697, Gm131

MMRRC Submission

039799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107211293-107221732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107213500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 263 (V263E)

Ref Sequence

ENSEMBL: ENSMUSP00000029504 (fasta)

Gene Model

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

AlphaFold

B7ZWD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029504
AA Change: V263E

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

SMART Domains

Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: V263E

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

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

91% (107/117)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,623,470 (GRCm38)	R60P	possibly damaging	Het
Aox2	T	A	1: 58,354,195 (GRCm38)	C1199S	probably benign	Het
Arhgap18	G	A	10: 26,887,861 (GRCm38)	M482I	probably damaging	Het
Arhgap18	G	T	10: 26,887,862 (GRCm38)	A483S	probably damaging	Het
Arid4a	G	A	12: 71,075,338 (GRCm38)	S509N	probably benign	Het
BC051019	T	C	7: 109,723,174 (GRCm38)	T38A	probably benign	Het
Bcam	T	C	7: 19,765,618 (GRCm38)	N192S	probably null	Het
Bend5	A	T	4: 111,454,241 (GRCm38)	K351*	probably null	Het
Bicdl2	T	A	17: 23,665,949 (GRCm38)	M208K	probably damaging	Het
Ccdc155	T	A	7: 45,188,803 (GRCm38)		probably null	Het
Ccp110	A	T	7: 118,726,024 (GRCm38)		probably null	Het
Cdc6	A	T	11: 98,912,217 (GRCm38)	T328S	probably damaging	Het
Cdk5rap2	G	T	4: 70,307,233 (GRCm38)	N558K	probably benign	Het
Cdkn1c	C	T	7: 143,459,121 (GRCm38)	R146K	probably benign	Het
Ceacam18	G	A	7: 43,648,494 (GRCm38)	C371Y	probably benign	Het
Cep95	T	A	11: 106,806,351 (GRCm38)	C233*	probably null	Het
Chrnd	A	G	1: 87,194,928 (GRCm38)	I144V	probably benign	Het
Col6a4	T	A	9: 106,080,100 (GRCm38)	Q175L	probably benign	Het
Cyp2a4	G	T	7: 26,312,772 (GRCm38)	V327F	possibly damaging	Het
Dhx29	T	A	13: 112,948,240 (GRCm38)	M664K	probably damaging	Het
Dlec1	T	G	9: 119,146,007 (GRCm38)		probably null	Het
Dna2	T	C	10: 62,957,084 (GRCm38)	Y293H	probably benign	Het
Dnase1l3	T	A	14: 7,974,104 (GRCm38)	N196Y	probably damaging	Het
Eea1	T	A	10: 95,996,960 (GRCm38)	D222E	probably damaging	Het
Efcab14	A	T	4: 115,752,919 (GRCm38)		probably null	Het
Entpd5	C	T	12: 84,386,211 (GRCm38)	R189H	probably benign	Het
Exoc4	A	T	6: 33,758,050 (GRCm38)	K534M	probably damaging	Het
Extl1	T	A	4: 134,371,138 (GRCm38)	Y194F	probably benign	Het
Eya1	A	G	1: 14,253,075 (GRCm38)	L161S	possibly damaging	Het
Fam163b	T	C	2: 27,112,862 (GRCm38)	E41G	possibly damaging	Het
Fam180a	A	C	6: 35,315,352 (GRCm38)	S40A	probably benign	Het
Fbxl4	T	C	4: 22,385,950 (GRCm38)	S186P	probably benign	Het
Fbxw19	A	T	9: 109,494,772 (GRCm38)	L45*	probably null	Het
Fgf14	G	T	14: 124,676,512 (GRCm38)	T69N	probably benign	Het
Flt1	A	G	5: 147,672,709 (GRCm38)	Y432H	probably damaging	Het
Frmd4b	A	T	6: 97,306,764 (GRCm38)	L374Q	possibly damaging	Het
G6pc2	T	A	2: 69,222,977 (GRCm38)	V125D	probably damaging	Het
Gna15	A	T	10: 81,512,120 (GRCm38)	L164Q	probably damaging	Het
Gnaz	C	A	10: 74,991,870 (GRCm38)	D151E	possibly damaging	Het
Has1	T	C	17: 17,850,300 (GRCm38)	T120A	probably benign	Het
Hectd4	T	A	5: 121,358,303 (GRCm38)	D3919E	possibly damaging	Het
Hs3st5	A	G	10: 36,833,169 (GRCm38)	I233M	probably benign	Het
Ilf3	T	C	9: 21,403,142 (GRCm38)		probably benign	Het
Inpp5b	T	A	4: 124,793,276 (GRCm38)	L765*	probably null	Het
Insr	A	T	8: 3,159,561 (GRCm38)	I1174N	probably damaging	Het
Kcnq3	A	G	15: 66,005,906 (GRCm38)	L445P	probably damaging	Het
Kctd20	A	T	17: 28,962,850 (GRCm38)	N159Y	probably damaging	Het
Kctd20	A	T	17: 28,966,781 (GRCm38)	D366V	probably damaging	Het
Klk15	T	C	7: 43,938,333 (GRCm38)		probably benign	Het
Lama4	T	G	10: 39,103,501 (GRCm38)	N1658K	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Mas1	T	C	17: 12,841,699 (GRCm38)	Y279C	probably damaging	Het
Mast2	G	T	4: 116,306,959 (GRCm38)	D1747E	probably damaging	Het
Mest	G	A	6: 30,745,139 (GRCm38)	M235I	probably benign	Het
Mfsd6	A	G	1: 52,660,805 (GRCm38)		probably null	Het
Mllt10	T	A	2: 18,162,846 (GRCm38)	S449R	probably damaging	Het
Mon2	T	A	10: 123,013,763 (GRCm38)	T1211S	probably benign	Het
Mrnip	G	A	11: 50,176,861 (GRCm38)	C27Y	probably damaging	Het
Myh15	A	T	16: 49,163,135 (GRCm38)	T1538S	probably benign	Het
Nfatc2ip	A	G	7: 126,390,462 (GRCm38)	V250A	probably benign	Het
Npy1r	A	G	8: 66,704,525 (GRCm38)	D199G	possibly damaging	Het
Numbl	A	G	7: 27,280,954 (GRCm38)	T454A	probably benign	Het
Nutm2	T	G	13: 50,473,116 (GRCm38)	F436V	probably damaging	Het
Olfr1112	T	A	2: 87,191,698 (GRCm38)	S4T	probably benign	Het
Olfr330	A	G	11: 58,529,776 (GRCm38)	L70P	probably damaging	Het
Olfr458	A	G	6: 42,460,677 (GRCm38)	L114S	probably damaging	Het
Olfr556	A	G	7: 102,670,301 (GRCm38)	Y127C	probably damaging	Het
Olfr631	C	T	7: 103,929,725 (GRCm38)	R301*	probably null	Het
Olfr64	A	G	7: 103,893,277 (GRCm38)	S153P	probably benign	Het
Olfr676	A	G	7: 105,035,950 (GRCm38)	S251G	probably benign	Het
Olfr707	A	T	7: 106,891,977 (GRCm38)		probably null	Het
Olfr707	G	T	7: 106,891,978 (GRCm38)	L44M	probably damaging	Het
Olfr876	T	A	9: 37,804,303 (GRCm38)	Y131N	probably damaging	Het
Opa1	T	C	16: 29,620,810 (GRCm38)	S773P	probably benign	Het
Pde8a	G	C	7: 81,300,723 (GRCm38)		probably null	Het
Pgam1	T	C	19: 41,917,705 (GRCm38)	F232S	probably damaging	Het
Pgk1	T	A	X: 106,200,308 (GRCm38)	V303E	possibly damaging	Het
Pirb	A	T	7: 3,717,190 (GRCm38)	C395S	probably damaging	Het
Plxnc1	C	T	10: 94,844,322 (GRCm38)	V824I	probably benign	Het
Ppp6r1	A	G	7: 4,633,692 (GRCm38)		probably null	Het
Rapgef4	C	A	2: 72,225,787 (GRCm38)		probably benign	Het
Rars	T	A	11: 35,809,638 (GRCm38)	T539S	probably damaging	Het
Rbm44	G	T	1: 91,153,957 (GRCm38)		probably null	Het
RP23-114B10.6	T	C	8: 69,373,558 (GRCm38)	I119M	unknown	Het
Samd4b	A	G	7: 28,413,892 (GRCm38)	I216T	probably benign	Het
Serpine2	A	C	1: 79,816,815 (GRCm38)	F134V	probably damaging	Het
Shmt1	A	G	11: 60,792,964 (GRCm38)	Y341H	probably damaging	Het
Slc23a2	C	A	2: 132,075,641 (GRCm38)	V226F	probably benign	Het
Slc23a4	A	G	6: 34,956,961 (GRCm38)	I69T	probably damaging	Het
Slc37a1	C	A	17: 31,333,678 (GRCm38)	T319K	possibly damaging	Het
Slc6a4	A	T	11: 77,013,252 (GRCm38)	T178S	probably damaging	Het
Smarca4	G	A	9: 21,701,183 (GRCm38)	A1588T	possibly damaging	Het
Spag17	A	T	3: 100,027,352 (GRCm38)	Y650F	possibly damaging	Het
Stab2	C	T	10: 87,003,008 (GRCm38)	G65S	probably damaging	Het
Stambpl1	C	G	19: 34,226,721 (GRCm38)	N70K	probably damaging	Het
Stip1	C	A	19: 7,021,797 (GRCm38)	C471F	probably damaging	Het
Taf1	T	C	X: 101,540,894 (GRCm38)	S223P	probably benign	Het
Tchh	C	A	3: 93,443,575 (GRCm38)	N107K	possibly damaging	Het
Tenm3	A	C	8: 48,232,104 (GRCm38)	H2432Q	probably damaging	Het
Tmem243	A	G	5: 9,118,548 (GRCm38)	N110S	probably damaging	Het
Toe1	A	T	4: 116,804,879 (GRCm38)	I306F	probably benign	Het
Trank1	G	A	9: 111,392,927 (GRCm38)	V2911M	probably damaging	Het
Trpm4	A	G	7: 45,308,612 (GRCm38)	I811T	probably damaging	Het
Tspear	T	A	10: 77,875,116 (GRCm38)		probably null	Het
Ttc28	A	T	5: 111,277,168 (GRCm38)	I1589F	possibly damaging	Het
Tubgcp3	A	G	8: 12,649,686 (GRCm38)		probably benign	Het
U2af2	C	A	7: 5,067,545 (GRCm38)	R78S	probably benign	Het
Wdr17	A	T	8: 54,673,654 (GRCm38)	D388E	possibly damaging	Het
Wdr3	A	T	3: 100,153,870 (GRCm38)	S261T	probably benign	Het
Zfp667	A	G	7: 6,305,067 (GRCm38)	N245D	possibly damaging	Het
Zfp692	A	G	11: 58,310,176 (GRCm38)		probably benign	Het
Zfp729a	T	C	13: 67,619,251 (GRCm38)	H953R	probably benign	Het

Other mutations in Cym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Cym	APN	3	107,214,285 (GRCm38)	missense	probably damaging	0.97
IGL02480:Cym	APN	3	107,213,522 (GRCm38)	missense	probably benign	0.00
IGL03224:Cym	APN	3	107,218,732 (GRCm38)	missense	possibly damaging	0.69
R1466:Cym	UTSW	3	107,213,458 (GRCm38)	missense	probably damaging	1.00
R1466:Cym	UTSW	3	107,213,458 (GRCm38)	missense	probably damaging	1.00
R1753:Cym	UTSW	3	107,213,425 (GRCm38)	missense	possibly damaging	0.91
R1851:Cym	UTSW	3	107,218,714 (GRCm38)	missense	probably benign	0.20
R4093:Cym	UTSW	3	107,214,266 (GRCm38)	missense	probably benign	0.06
R4094:Cym	UTSW	3	107,214,266 (GRCm38)	missense	probably benign	0.06
R4114:Cym	UTSW	3	107,219,749 (GRCm38)	missense	probably damaging	1.00
R4583:Cym	UTSW	3	107,211,402 (GRCm38)	missense	probably damaging	1.00
R4782:Cym	UTSW	3	107,216,097 (GRCm38)	missense	possibly damaging	0.60
R5844:Cym	UTSW	3	107,219,764 (GRCm38)	missense	probably benign	0.02
R5953:Cym	UTSW	3	107,213,467 (GRCm38)	missense	probably damaging	1.00
R7133:Cym	UTSW	3	107,214,214 (GRCm38)	missense	probably damaging	1.00
R7298:Cym	UTSW	3	107,219,693 (GRCm38)	missense	probably benign	0.07
R7563:Cym	UTSW	3	107,214,232 (GRCm38)	missense	probably damaging	1.00
R8353:Cym	UTSW	3	107,221,709 (GRCm38)	start gained	probably benign
R8365:Cym	UTSW	3	107,212,866 (GRCm38)	missense	probably benign	0.13
R8670:Cym	UTSW	3	107,211,496 (GRCm38)	critical splice acceptor site	probably null
R8728:Cym	UTSW	3	107,218,675 (GRCm38)	missense	possibly damaging	0.91
R9598:Cym	UTSW	3	107,219,625 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTCTCAGGACCAGGAAACAGATG -3'
(R):5'- TGAGCTGTTCTCAATTCAGCCACC -3'

Sequencing Primer
(F):5'- TGATAGCCACCATGCAAAGG -3'
(R):5'- TTCAGCCACCAATTGAGGG -3'

Posted On

2014-05-23