Mutagenetix > Incidental Mutation

Incidental Mutation 'R1329:Ovch2'

156115

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

9230106D23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107380751-107400386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107384653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 488 (D488G)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: D488G

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

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: D488G

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: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	T	4: 152,314,241 (GRCm39)	Q188*	probably null	Het
Ano5	T	C	7: 51,196,533 (GRCm39)	Y141H	probably benign	Het
Atg101	G	A	15: 101,188,171 (GRCm39)	G92D	probably null	Het
Brwd1	A	G	16: 95,804,434 (GRCm39)	I1912T	probably benign	Het
Cad	G	T	5: 31,216,926 (GRCm39)	G263W	probably damaging	Het
Clstn2	T	C	9: 97,340,227 (GRCm39)	E715G	probably damaging	Het
Cracd	A	G	5: 76,805,779 (GRCm39)		probably benign	Het
Dbp	C	T	7: 45,357,752 (GRCm39)	P70S	probably damaging	Het
Fem1al	T	A	11: 29,773,553 (GRCm39)	N635Y	probably benign	Het
Gpr61	T	A	3: 108,057,830 (GRCm39)	H277L	probably benign	Het
Gsdma3	G	T	11: 98,523,218 (GRCm39)	V203F	probably damaging	Het
Ifih1	G	C	2: 62,447,831 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,020 (GRCm39)	C404S	possibly damaging	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Nfat5	T	G	8: 108,095,659 (GRCm39)	M1300R	probably benign	Het
Nfrkb	C	T	9: 31,325,943 (GRCm39)	P1129S	possibly damaging	Het
Nubp2	A	T	17: 25,102,838 (GRCm39)	N208K	possibly damaging	Het
Or8g20	A	G	9: 39,395,740 (GRCm39)	S270P	probably damaging	Het
Rfx6	A	T	10: 51,569,833 (GRCm39)	Y202F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Usp4	T	A	9: 108,249,765 (GRCm39)	V431E	probably damaging	Het
Vil1	A	G	1: 74,466,717 (GRCm39)	I636V	probably benign	Het
Vmn2r116	A	G	17: 23,606,162 (GRCm39)	N358S	possibly damaging	Het
Wdr47	T	A	3: 108,534,615 (GRCm39)	N511K	probably benign	Het
Wdr5	T	A	2: 27,421,683 (GRCm39)	F222I	probably damaging	Het

Other mutations in Ovch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Ovch2	APN	7	107,388,297 (GRCm39)	missense	probably null	1.00
IGL02198:Ovch2	APN	7	107,394,041 (GRCm39)	missense	probably damaging	0.99
IGL02200:Ovch2	APN	7	107,394,030 (GRCm39)	missense	probably damaging	1.00
IGL02442:Ovch2	APN	7	107,395,755 (GRCm39)	missense	possibly damaging	0.90
IGL02531:Ovch2	APN	7	107,389,405 (GRCm39)	missense	probably damaging	1.00
IGL02862:Ovch2	APN	7	107,394,138 (GRCm39)	missense	probably damaging	1.00
R0401:Ovch2	UTSW	7	107,400,343 (GRCm39)	missense	probably damaging	0.98
R0413:Ovch2	UTSW	7	107,381,243 (GRCm39)	missense	probably benign
R0631:Ovch2	UTSW	7	107,381,228 (GRCm39)	missense	probably benign	0.01
R1028:Ovch2	UTSW	7	107,395,755 (GRCm39)	missense	probably benign	0.37
R1809:Ovch2	UTSW	7	107,389,412 (GRCm39)	critical splice acceptor site	probably null
R2254:Ovch2	UTSW	7	107,389,402 (GRCm39)	missense	probably benign	0.02
R2265:Ovch2	UTSW	7	107,383,782 (GRCm39)	missense	probably damaging	1.00
R2358:Ovch2	UTSW	7	107,394,122 (GRCm39)	missense	probably damaging	1.00
R2922:Ovch2	UTSW	7	107,389,596 (GRCm39)	missense	possibly damaging	0.88
R2923:Ovch2	UTSW	7	107,389,596 (GRCm39)	missense	possibly damaging	0.88
R3034:Ovch2	UTSW	7	107,384,699 (GRCm39)	missense	probably damaging	1.00
R3885:Ovch2	UTSW	7	107,395,775 (GRCm39)	missense	probably damaging	1.00
R3957:Ovch2	UTSW	7	107,388,318 (GRCm39)	missense	probably damaging	0.99
R4687:Ovch2	UTSW	7	107,395,755 (GRCm39)	missense	possibly damaging	0.90
R5307:Ovch2	UTSW	7	107,391,341 (GRCm39)	missense	probably benign	0.26
R5353:Ovch2	UTSW	7	107,393,631 (GRCm39)	missense	probably damaging	0.98
R5688:Ovch2	UTSW	7	107,393,201 (GRCm39)	missense	probably damaging	1.00
R5730:Ovch2	UTSW	7	107,392,606 (GRCm39)	missense	probably damaging	1.00
R5767:Ovch2	UTSW	7	107,381,185 (GRCm39)	missense	probably benign
R5979:Ovch2	UTSW	7	107,393,595 (GRCm39)	missense	possibly damaging	0.94
R6039:Ovch2	UTSW	7	107,388,318 (GRCm39)	missense	probably damaging	0.99
R6039:Ovch2	UTSW	7	107,388,318 (GRCm39)	missense	probably damaging	0.99
R6064:Ovch2	UTSW	7	107,395,779 (GRCm39)	missense	probably damaging	0.98
R6247:Ovch2	UTSW	7	107,384,648 (GRCm39)	missense	probably damaging	1.00
R6638:Ovch2	UTSW	7	107,388,301 (GRCm39)	missense	probably benign	0.17
R6877:Ovch2	UTSW	7	107,389,315 (GRCm39)	missense	probably benign	0.25
R7040:Ovch2	UTSW	7	107,395,772 (GRCm39)	missense	probably damaging	1.00
R7257:Ovch2	UTSW	7	107,393,640 (GRCm39)	missense	probably damaging	1.00
R7282:Ovch2	UTSW	7	107,393,577 (GRCm39)	missense	possibly damaging	0.94
R7824:Ovch2	UTSW	7	107,388,295 (GRCm39)	critical splice donor site	probably null
R7841:Ovch2	UTSW	7	107,393,298 (GRCm39)	missense	probably benign	0.01
R7908:Ovch2	UTSW	7	107,388,326 (GRCm39)	missense	probably damaging	1.00
R8427:Ovch2	UTSW	7	107,393,207 (GRCm39)	missense	probably damaging	1.00
R8745:Ovch2	UTSW	7	107,389,584 (GRCm39)	missense	possibly damaging	0.93
R8812:Ovch2	UTSW	7	107,393,251 (GRCm39)	nonsense	probably null
R8812:Ovch2	UTSW	7	107,392,462 (GRCm39)	missense	probably damaging	1.00
R9250:Ovch2	UTSW	7	107,392,542 (GRCm39)	missense	probably damaging	1.00
R9301:Ovch2	UTSW	7	107,395,815 (GRCm39)	missense	probably damaging	1.00
R9308:Ovch2	UTSW	7	107,389,560 (GRCm39)	missense	probably benign	0.03
R9703:Ovch2	UTSW	7	107,383,777 (GRCm39)	missense	probably damaging	1.00
R9717:Ovch2	UTSW	7	107,393,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTCAATGGCCTTTCACAGATGGTTC -3'
(R):5'- CCCTGCACGCAAGCTGTATTTGATAG -3'

Sequencing Primer
(F):5'- GGCCTTTCACAGATGGTTCAAATAG -3'
(R):5'- TCAAGAGTTTTGAGGGCCTATC -3'

Posted On

2014-02-11