Mutagenetix > Incidental Mutation

Incidental Mutation 'R3957:Ovch2'

310757

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

MMRRC Submission

040931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3957 (G1)

Quality Score

225

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,224,809	K393E	possibly damaging	Het
Acsm4	A	T	7: 119,703,365	M238L	possibly damaging	Het
Adam2	G	A	14: 66,057,610	S262L	probably damaging	Het
Atp13a5	T	A	16: 29,298,194	I579L	probably benign	Het
Canx	A	G	11: 50,308,383	V153A	probably damaging	Het
Cdan1	A	G	2: 120,725,632	Y718H	probably damaging	Het
Cdan1	G	A	2: 120,731,020		probably benign	Het
Cpsf3	A	G	12: 21,313,805	D632G	probably benign	Het
Dach1	T	C	14: 97,840,109	T561A	probably damaging	Het
Dennd5a	A	G	7: 109,905,699	M868T	probably benign	Het
Dhx29	C	T	13: 112,930,921	A112V	probably benign	Het
Fanca	G	A	8: 123,316,363	R95C	probably benign	Het
Fat4	C	A	3: 38,982,346	N3382K	probably benign	Het
Fkbp15	A	C	4: 62,334,252	F290L	probably benign	Het
Fkbp8	T	G	8: 70,534,867	S376A	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Igfn1	A	G	1: 135,967,180	Y1883H	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,680	Q97L	probably damaging	Het
Igkv15-103	A	T	6: 68,437,919	Y114F	probably benign	Het
Kera	G	A	10: 97,612,845	R309H	probably benign	Het
Kif1a	T	A	1: 93,025,694	H1256L	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Lmx1b	T	C	2: 33,569,094	E149G	probably damaging	Het
Me2	A	G	18: 73,781,132	F443L	probably damaging	Het
Med12l	T	A	3: 59,073,168	S307R	probably damaging	Het
Mocs2	T	A	13: 114,825,267		probably null	Het
Nek7	C	A	1: 138,534,389	C79F	probably damaging	Het
Olfr1042	A	G	2: 86,159,938	V144A	probably benign	Het
Olfr1173	A	G	2: 88,275,004	F15S	probably damaging	Het
Olfr127	A	T	17: 37,903,609	H21L	probably benign	Het
Olfr566	A	G	7: 102,856,617	C222R	probably damaging	Het
Pan2	C	T	10: 128,315,177	R806C	probably damaging	Het
Plod3	A	T	5: 136,994,192	H616L	probably damaging	Het
Plxnb3	T	C	X: 73,771,220	V1789A	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Rrnad1	T	C	3: 87,926,828	K116R	possibly damaging	Het
Tbc1d9	C	T	8: 83,233,532	T138I	probably damaging	Het
Tdrkh	A	G	3: 94,428,249	N383S	probably damaging	Het
Trim30d	C	T	7: 104,472,521	G339D	probably damaging	Het
Trub1	G	A	19: 57,485,366	A239T	possibly damaging	Het
Tspan32	T	A	7: 143,006,998	M61K	probably damaging	Het
Ttc6	T	C	12: 57,697,452	V1290A	probably benign	Het
Ttn	A	G	2: 76,969,249	V429A	possibly damaging	Het
Unc13b	A	G	4: 43,256,834	Y3962C	probably damaging	Het
Usp3	T	C	9: 66,562,591	T83A	probably benign	Het
Vmn2r95	T	A	17: 18,440,096	Y257N	possibly damaging	Het
Zmym6	T	C	4: 127,123,296	S957P	possibly damaging	Het
Zmynd8	T	C	2: 165,812,475	T722A	probably 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
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
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'- TCCCTAGGGCATGTGACTAGTG -3'

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

Posted On

2015-04-29