Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02862:Ovch2'

362192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

9230106D23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02862

Quality Score

Status

Chromosome

Chromosomal Location

107380751-107400386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107394138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 105 (V105E)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: V105E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: V105E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,611,659 (GRCm39)		probably benign	Het
Adhfe1	T	C	1: 9,624,036 (GRCm39)	L170P	probably damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Akr1e1	T	C	13: 4,659,092 (GRCm39)	T11A	possibly damaging	Het
Arhgap23	A	G	11: 97,347,306 (GRCm39)	E668G	probably damaging	Het
Ccdc163	G	A	4: 116,569,910 (GRCm39)		probably null	Het
Egfr	A	T	11: 16,833,562 (GRCm39)	Y610F	probably benign	Het
Ercc3	T	C	18: 32,376,255 (GRCm39)		probably null	Het
Fasn	G	T	11: 120,709,805 (GRCm39)	H417Q	possibly damaging	Het
Gjd2	A	G	2: 113,843,624 (GRCm39)		probably benign	Het
Grip2	C	T	6: 91,765,085 (GRCm39)	R59H	probably damaging	Het
H2bc11	C	T	13: 22,227,515 (GRCm39)	S39L	possibly damaging	Het
Ighv1-43	A	G	12: 114,909,859 (GRCm39)	V21A	probably damaging	Het
Ltbp1	G	A	17: 75,697,466 (GRCm39)	G1368D	probably damaging	Het
Mogs	G	T	6: 83,092,871 (GRCm39)	G104C	probably damaging	Het
Nfix	T	A	8: 85,440,475 (GRCm39)	T472S	probably benign	Het
Or5m9	T	C	2: 85,877,648 (GRCm39)	V274A	probably benign	Het
Pex1	G	T	5: 3,655,424 (GRCm39)		probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Prl7a1	T	C	13: 27,823,872 (GRCm39)	T70A	probably benign	Het
Shmt2	C	T	10: 127,354,743 (GRCm39)	R311Q	probably benign	Het
St3gal4	A	G	9: 34,963,543 (GRCm39)	I255T	probably benign	Het
Taf8	C	T	17: 47,805,339 (GRCm39)	A187T	probably damaging	Het
Tm6sf1	T	A	7: 81,520,504 (GRCm39)	V62D	probably damaging	Het
Trpm5	A	T	7: 142,636,262 (GRCm39)	W537R	probably damaging	Het
Vmn2r101	T	A	17: 19,831,867 (GRCm39)	L621H	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
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
R1329:Ovch2	UTSW	7	107,384,653 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-12-18