Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Ovch2'

486745

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107781544-107801208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107789111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 421 (L421F)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106755]

AlphaFold

Q7M761

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: L421F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: L421F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Tryp_SPc	51	294	6.58e-93	SMART
CUB	314	421	1.68e-17	SMART
CUB	431	543	5.02e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208448

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,908,546	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,406,859	D181E	probably benign	Het
Arhgap24	T	C	5: 102,880,786	S183P	probably damaging	Het
Asb1	T	C	1: 91,547,026	L90P	probably damaging	Het
Bmp3	T	C	5: 98,872,350	F211L	probably benign	Het
C8a	A	G	4: 104,845,942	I306T	probably benign	Het
Cdkn3	G	A	14: 46,769,916	G177R	probably damaging	Het
Chat	A	G	14: 32,449,027	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,353,621		probably benign	Het
Cyp4a12a	T	C	4: 115,327,223	I265T	probably damaging	Het
Dlst	T	A	12: 85,118,890		probably null	Het
Dnmt1	A	T	9: 20,926,420		probably benign	Het
Fbn1	C	T	2: 125,363,880	E1066K	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fstl1	T	A	16: 37,821,176	S105T	probably benign	Het
Gm19410	C	G	8: 35,809,364	A1725G	probably benign	Het
Hspb7	A	G	4: 141,423,904	N119S	probably damaging	Het
Il20	T	A	1: 130,910,741	D73V	possibly damaging	Het
Insrr	T	C	3: 87,809,301	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,309,037	Y1107C	probably benign	Het
Klhl32	A	G	4: 24,792,615		probably null	Het
Krt77	C	A	15: 101,860,916	R470L	possibly damaging	Het
Muc1	T	C	3: 89,232,029	Y579H	probably damaging	Het
Myof	T	C	19: 37,977,684	D396G	probably damaging	Het
Myom1	T	G	17: 71,110,751	D1316E	probably damaging	Het
Nbea	T	C	3: 56,005,117	E1083G	probably benign	Het
Nek9	G	A	12: 85,313,085	A531V	probably benign	Het
Nlrp12	A	T	7: 3,241,372	I170N	possibly damaging	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Paqr4	T	C	17: 23,739,994	D11G	probably damaging	Het
Parp8	A	G	13: 116,877,598	S561P	probably damaging	Het
Pcgf5	T	A	19: 36,442,906	F179L	probably damaging	Het
Pde4d	A	T	13: 109,948,342	Q422L	probably damaging	Het
Pigs	T	A	11: 78,341,825	V495E	probably damaging	Het
Polh	C	T	17: 46,188,033	R252H	probably benign	Het
Psg28	T	C	7: 18,426,182	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,906,890	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,236,763		probably null	Het
Rax	C	T	18: 65,935,347	G229D	unknown	Het
Secisbp2l	T	A	2: 125,773,216	H163L	probably benign	Het
Sf3a2	A	G	10: 80,801,463	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,016,616	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,669,697	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,886,574	I90V	probably benign	Het
Slx4	G	A	16: 3,986,047	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,709,599	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,418,409	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,831,955	H45Q	probably damaging	Het
Ttn	C	T	2: 76,884,418		probably benign	Het
Ush2a	T	A	1: 188,319,020	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,958,318		probably null	Het
Wdr6	CTG	C	9: 108,573,795		probably null	Het
Zfp644	A	G	5: 106,635,425	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,288,774	Q364*	probably null	Het

Other mutations in Ovch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Ovch2	APN	7	107789090	missense	probably null	1.00
IGL02198:Ovch2	APN	7	107794834	missense	probably damaging	0.99
IGL02200:Ovch2	APN	7	107794823	missense	probably damaging	1.00
IGL02442:Ovch2	APN	7	107796548	missense	possibly damaging	0.90
IGL02531:Ovch2	APN	7	107790198	missense	probably damaging	1.00
IGL02862:Ovch2	APN	7	107794931	missense	probably damaging	1.00
R0401:Ovch2	UTSW	7	107801136	missense	probably damaging	0.98
R0413:Ovch2	UTSW	7	107782036	missense	probably benign
R0631:Ovch2	UTSW	7	107782021	missense	probably benign	0.01
R1028:Ovch2	UTSW	7	107796548	missense	probably benign	0.37
R1329:Ovch2	UTSW	7	107785446	missense	probably damaging	1.00
R1809:Ovch2	UTSW	7	107790205	critical splice acceptor site	probably null
R2254:Ovch2	UTSW	7	107790195	missense	probably benign	0.02
R2265:Ovch2	UTSW	7	107784575	missense	probably damaging	1.00
R2358:Ovch2	UTSW	7	107794915	missense	probably damaging	1.00
R2922:Ovch2	UTSW	7	107790389	missense	possibly damaging	0.88
R2923:Ovch2	UTSW	7	107790389	missense	possibly damaging	0.88
R3034:Ovch2	UTSW	7	107785492	missense	probably damaging	1.00
R3885:Ovch2	UTSW	7	107796568	missense	probably damaging	1.00
R3957:Ovch2	UTSW	7	107789111	missense	probably damaging	0.99
R4687:Ovch2	UTSW	7	107796548	missense	possibly damaging	0.90
R5307:Ovch2	UTSW	7	107792134	missense	probably benign	0.26
R5353:Ovch2	UTSW	7	107794424	missense	probably damaging	0.98
R5688:Ovch2	UTSW	7	107793994	missense	probably damaging	1.00
R5730:Ovch2	UTSW	7	107793399	missense	probably damaging	1.00
R5767:Ovch2	UTSW	7	107781978	missense	probably benign
R5979:Ovch2	UTSW	7	107794388	missense	possibly damaging	0.94
R6039:Ovch2	UTSW	7	107789111	missense	probably damaging	0.99
R6064:Ovch2	UTSW	7	107796572	missense	probably damaging	0.98
R6247:Ovch2	UTSW	7	107785441	missense	probably damaging	1.00
R6638:Ovch2	UTSW	7	107789094	missense	probably benign	0.17
R6877:Ovch2	UTSW	7	107790108	missense	probably benign	0.25
R7040:Ovch2	UTSW	7	107796565	missense	probably damaging	1.00
R7257:Ovch2	UTSW	7	107794433	missense	probably damaging	1.00
R7282:Ovch2	UTSW	7	107794370	missense	possibly damaging	0.94
R7824:Ovch2	UTSW	7	107789088	critical splice donor site	probably null
R7841:Ovch2	UTSW	7	107794091	missense	probably benign	0.01
R7908:Ovch2	UTSW	7	107789119	missense	probably damaging	1.00
R8427:Ovch2	UTSW	7	107794000	missense	probably damaging	1.00
R8745:Ovch2	UTSW	7	107790377	missense	possibly damaging	0.93
R8812:Ovch2	UTSW	7	107793255	missense	probably damaging	1.00
R8812:Ovch2	UTSW	7	107794044	nonsense	probably null
R9250:Ovch2	UTSW	7	107793335	missense	probably damaging	1.00
R9301:Ovch2	UTSW	7	107796608	missense	probably damaging	1.00
R9308:Ovch2	UTSW	7	107790353	missense	probably benign	0.03
R9703:Ovch2	UTSW	7	107784570	missense	probably damaging	1.00
R9717:Ovch2	UTSW	7	107794377	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGCCAGTGATCAGGAAC -3'
(R):5'- TCCCTAGGGCATGTGACTAG -3'

Sequencing Primer
(F):5'- GAGGAGAGACTACATCTTTCAGCTTG -3'
(R):5'- ATGTGACTAGTGCCATTTTCCAGAC -3'

Posted On

2017-08-16