Mutagenetix > Incidental Mutation

Incidental Mutation 'R8745:Ovch2'

663495

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8745 (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 107790377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 321 (S321F)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106755
AA Change: S321F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: S321F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,634,443	N377S	probably benign	Het
Aldh3b3	A	T	19: 3,964,890	Y129F	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ankrd61	G	A	5: 143,891,419	S246L	possibly damaging	Het
BC037034	A	G	5: 138,263,065		probably null	Het
Ccdc187	T	A	2: 26,280,514	I651F	probably damaging	Het
Cdc40	C	T	10: 40,841,484	D404N	probably damaging	Het
Ceacam13	T	A	7: 18,010,009	S14T	probably damaging	Het
Cfap58	A	T	19: 47,941,114	K5*	probably null	Het
Col27a1	T	C	4: 63,225,916	S614P	probably benign	Het
Crlf3	T	A	11: 80,064,274	E85D	probably damaging	Het
Dlat	G	T	9: 50,649,667	A360E	probably damaging	Het
Dnah7b	A	G	1: 46,182,464	I1243V	possibly damaging	Het
Dnajc22	A	G	15: 99,101,464	T177A	probably benign	Het
Dytn	A	T	1: 63,647,447	C355S	probably benign	Het
Ehbp1	T	C	11: 22,169,064	N202S	possibly damaging	Het
Exoc3l2	T	C	7: 19,481,287	I491T	unknown	Het
Fam135a	G	A	1: 24,028,488	T1100M	probably benign	Het
Fam53a	A	T	5: 33,610,437	I43N	probably damaging	Het
Fis1	G	T	5: 136,953,511		probably benign	Het
Fn1	T	C	1: 71,637,369	T568A	probably benign	Het
Gba	A	T	3: 89,207,873	N404I	probably damaging	Het
Gm11639	C	T	11: 104,858,478	T2340M	possibly damaging	Het
Gsap	A	G	5: 21,269,951	Y536C	probably benign	Het
Hecw2	T	A	1: 53,933,171	E230V	probably damaging	Het
Heg1	A	G	16: 33,735,616	Q1046R	probably benign	Het
Kctd14	G	A	7: 97,458,238	W233*	probably null	Het
Krt88	T	C	15: 101,453,579	S156P	possibly damaging	Het
L3mbtl1	C	A	2: 162,970,217	H727Q	probably benign	Het
Man1c1	T	C	4: 134,575,984	K400E	probably damaging	Het
Map2	A	T	1: 66,413,397	Q482L	probably benign	Het
Map3k1	A	G	13: 111,756,772	V733A	probably damaging	Het
Map4k1	G	A	7: 28,987,117	D155N	probably damaging	Het
Map4k3	G	A	17: 80,636,735	R328C	possibly damaging	Het
March7	C	T	2: 60,236,809	Q558*	probably null	Het
Mepe	T	C	5: 104,337,659	S222P	possibly damaging	Het
Mfap3l	A	T	8: 60,671,924	N400I	possibly damaging	Het
Myom3	T	C	4: 135,795,198		probably null	Het
Nav3	T	C	10: 109,823,450	T769A	probably benign	Het
Ndufb7	T	A	8: 83,570,889	Y58N	probably damaging	Het
Nup160	T	C	2: 90,700,119	F445L	probably benign	Het
Olfr1198	T	C	2: 88,746,064	I275V	possibly damaging	Het
Olfr1261	T	A	2: 89,993,732	M113K	probably damaging	Het
Olfr379-ps1	C	A	11: 73,434,022	*68L	probably null	Het
Pamr1	T	C	2: 102,611,579	L171P	probably damaging	Het
Pcdhga5	T	C	18: 37,695,921	V474A	possibly damaging	Het
Pcgf6	A	G	19: 47,050,720	S34P	probably benign	Het
Pitrm1	C	T	13: 6,553,202	P96L	probably damaging	Het
Polr1a	T	C	6: 71,954,771	F945L	probably damaging	Het
Ranbp1	A	G	16: 18,247,380	S21P	possibly damaging	Het
Rasgrp2	G	T	19: 6,413,919	R549L	probably damaging	Het
Rassf10	T	A	7: 112,954,876	L228Q	probably damaging	Het
Rho	A	T	6: 115,935,522	I275F	probably damaging	Het
Rrp9	T	C	9: 106,484,458	V400A	possibly damaging	Het
Satb2	A	G	1: 56,969,637	L62P	unknown	Het
Scmh1	T	A	4: 120,505,362	L265*	probably null	Het
Scn7a	A	G	2: 66,680,182	M1292T	probably benign	Het
Serpinb10	A	T	1: 107,546,812	T235S	probably benign	Het
Serpinb6c	A	G	13: 33,880,719	V214A	probably benign	Het
Sf3b3	A	G	8: 110,824,184	I616T	possibly damaging	Het
Shb	G	C	4: 45,458,319	R282G	probably benign	Het
Snx5	A	T	2: 144,262,012	S22T	probably benign	Het
Spata6	T	C	4: 111,779,279	F256L	probably benign	Het
St5	T	A	7: 109,557,072	H157L	probably benign	Het
Stab2	T	C	10: 86,969,349	H255R	probably benign	Het
Sva	T	A	6: 42,038,423	M1K	probably null	Het
Tdpoz4	A	T	3: 93,796,914	T173S	probably benign	Het
Tex9	T	C	9: 72,482,496	I111V	probably benign	Het
Tigd4	A	G	3: 84,594,567	I264V	probably benign	Het
Tmem182	C	T	1: 40,838,376	A137V	probably damaging	Het
Tnfrsf1a	A	G	6: 125,361,782	I385V	probably damaging	Het
Tnrc18	A	T	5: 142,787,447	F542L		Het
Tpbpa	G	A	13: 60,939,964	T86I	possibly damaging	Het
Ubr5	G	A	15: 38,024,795	P573L		Het
Usp54	A	G	14: 20,562,108	I880T	probably benign	Het
Vmn1r9	A	G	6: 57,071,782	I281V	probably benign	Het
Zfp456	C	A	13: 67,367,254	C111F	possibly damaging	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
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
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'- CATGTCCTCTGGAACCAGGAAG -3'
(R):5'- AAGCACAGCCTAAGATGGAC -3'

Sequencing Primer
(F):5'- GACACACAGTCTGTAGGCAG -3'
(R):5'- CTATGAAGCATTATAGAAGCCAAGAC -3'

Posted On

2021-03-08