Mutagenetix > Incidental Mutation

Incidental Mutation 'R7908:Ovch2'

610278

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7908 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107781544-107801208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107789119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 418 (Y418F)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: Y418F

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

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: Y418F

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	T	12: 55,379,465	K533N	possibly damaging	Het
1110032A03Rik	T	A	9: 50,763,948	T153S	possibly damaging	Het
9530053A07Rik	A	T	7: 28,147,496	Y1168F	probably benign	Het
A4galt	A	G	15: 83,228,376	F69L	probably benign	Het
Acsf3	A	G	8: 122,785,823	M328V	probably damaging	Het
Adam10	T	G	9: 70,761,764	V454G	possibly damaging	Het
Adamts15	T	C	9: 30,902,226	D881G	probably benign	Het
Adamtsl1	T	C	4: 86,356,439	V1244A	probably benign	Het
Ankfn1	G	A	11: 89,405,534	P123L	probably damaging	Het
Aox1	T	C	1: 58,106,068	I1331T	possibly damaging	Het
Arntl	A	T	7: 113,313,473	I579L	probably benign	Het
Atg14	T	A	14: 47,568,593		probably benign	Het
Btnl4	A	G	17: 34,473,187	M147T	possibly damaging	Het
Camk1g	T	C	1: 193,359,774	K56E	probably damaging	Het
Capn7	T	C	14: 31,366,245		probably null	Het
Cbln1	T	A	8: 87,472,096	T49S	probably benign	Het
Cc2d2a	T	C	5: 43,706,846	V763A	probably benign	Het
Cdc40	A	G	10: 40,848,046	Y249H	probably damaging	Het
Cfap61	T	A	2: 146,102,099	L762H	probably damaging	Het
Cfap73	T	C	5: 120,630,058	T212A	probably benign	Het
Cfi	A	G	3: 129,848,584	E29G	probably benign	Het
Chmp6	A	T	11: 119,913,830		probably benign	Het
Clec14a	T	C	12: 58,267,679	T386A	possibly damaging	Het
Coq6	T	A	12: 84,371,166	L268H	probably damaging	Het
Cpt1a	T	C	19: 3,362,202	S225P	probably benign	Het
Dhx58	C	A	11: 100,695,304	L630F	probably damaging	Het
Dlg2	T	A	7: 91,900,773	V158E	probably damaging	Het
Foxd3	A	G	4: 99,657,339	T239A	probably benign	Het
Galnt6	T	C	15: 100,703,361	T346A	probably damaging	Het
Guca1b	C	G	17: 47,391,177	T185S	unknown	Het
H2-M5	T	C	17: 36,987,679	T292A	probably benign	Het
Hlx	T	C	1: 184,727,576	H455R	probably benign	Het
Hydin	A	G	8: 110,510,867	Y1924C	probably benign	Het
Ighg2b	C	T	12: 113,306,454	V315M		Het
Ildr2	A	G	1: 166,307,800	K374E	probably damaging	Het
Jmjd1c	T	C	10: 67,225,842	S1144P	probably benign	Het
Kcnj8	T	C	6: 142,566,029	D284G	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,281,056		probably benign	Het
Lingo4	A	G	3: 94,402,234	T160A	probably benign	Het
Lmod3	G	T	6: 97,248,473	A129E	probably benign	Het
Lrrk2	T	C	15: 91,726,152	C696R	probably damaging	Het
Mc2r	A	G	18: 68,407,965	F86L	probably benign	Het
Mfsd7a	T	C	5: 108,444,497	I276V	probably benign	Het
Mppe1	T	G	18: 67,228,984	K170T	probably benign	Het
Mtcl1	A	G	17: 66,371,330	I667T	possibly damaging	Het
Mtnr1a	A	T	8: 45,087,826	I275F	probably benign	Het
Myh2	A	G	11: 67,197,371	I1938V	probably benign	Het
Npsr1	A	T	9: 24,289,800	E160V	probably damaging	Het
Olfr156	T	A	4: 43,821,086	I92F	probably damaging	Het
Olfr205	C	T	16: 59,329,243	D89N	possibly damaging	Het
Olfr788	T	A	10: 129,472,998	I102N	probably damaging	Het
Pak7	A	G	2: 136,116,559	L203S	probably benign	Het
Pcdh15	A	T	10: 74,643,582	E508D	probably benign	Het
Prl7a1	T	C	13: 27,642,450	M1V	probably null	Het
Prpsap2	G	T	11: 61,756,272	N14K	possibly damaging	Het
Rad54b	T	A	4: 11,595,868	V215E	probably null	Het
Ryr2	G	A	13: 11,792,748	T845I	probably benign	Het
Scgb2b3	G	A	7: 31,362,014	T20I	probably damaging	Het
Serpina1b	T	C	12: 103,728,307	I393V	possibly damaging	Het
Slc13a5	T	C	11: 72,259,064	M207V	probably benign	Het
Smg1	A	T	7: 118,186,134	L843M	unknown	Het
Sp100	T	C	1: 85,708,067	V531A	possibly damaging	Het
Srsf6	T	C	2: 162,933,840	S190P	unknown	Het
Stil	A	G	4: 115,032,699	K795E	possibly damaging	Het
Sugp2	A	G	8: 70,251,927	R705G	probably benign	Het
Tnfrsf11a	T	A	1: 105,809,374	C69S	probably damaging	Het
Trim30a	A	T	7: 104,421,449	N252K	probably benign	Het
Tshz1	T	A	18: 84,014,607	K559*	probably null	Het
Ttbk1	C	T	17: 46,478,938	R133H	probably damaging	Het
Vmn1r1	T	C	1: 182,157,350	Y250C	probably benign	Het
Vmn2r12	A	G	5: 109,086,441	L635P	probably damaging	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vwa5b1	A	T	4: 138,569,170	L1182*	probably null	Het
Washc2	A	G	6: 116,248,145	D818G	probably benign	Het
Xylb	T	G	9: 119,381,545	S365A	probably benign	Het
Zcchc8	T	C	5: 123,720,720		probably benign	Het
Zdbf2	T	C	1: 63,306,827	I1455T	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
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'- CAGTGATCAGGAACTTTCAGGG -3'
(R):5'- TGTATCTCCCTAGGGCATGTGAC -3'

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

Posted On

2019-12-20