Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02198:Ovch2'

284119

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 #

IGL02198

Quality Score

Status

Chromosome

Chromosomal Location

107380751-107400386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107394041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 137 (K137N)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: K137N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: K137N

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	G	2: 131,388,412 (GRCm39)	I381T	probably damaging	Het
Armt1	T	A	10: 4,404,064 (GRCm39)	F383Y	possibly damaging	Het
Cdca2	A	G	14: 67,932,445 (GRCm39)	V486A	probably benign	Het
Cep78	A	G	19: 15,933,733 (GRCm39)	L615S	probably damaging	Het
Clec2h	C	A	6: 128,650,979 (GRCm39)	C86*	probably null	Het
Cntnap5a	C	T	1: 116,508,262 (GRCm39)	T1258I	probably benign	Het
Dhrs7c	T	A	11: 67,706,628 (GRCm39)	M262K	possibly damaging	Het
Dmpk	C	A	7: 18,822,117 (GRCm39)	F332L	probably damaging	Het
Dnaaf4	G	A	9: 72,876,348 (GRCm39)	V308I	probably benign	Het
Fap	A	G	2: 62,385,142 (GRCm39)	F73L	probably benign	Het
Igsf10	A	T	3: 59,233,399 (GRCm39)	I1778N	possibly damaging	Het
Il6ra	T	C	3: 89,797,655 (GRCm39)	T71A	probably benign	Het
Itpr2	C	A	6: 146,224,725 (GRCm39)	A1389S	probably damaging	Het
Mob3b	T	C	4: 35,083,983 (GRCm39)	N69D	probably damaging	Het
Nr1h3	A	G	2: 91,023,070 (GRCm39)	W21R	probably damaging	Het
Or4f56	A	T	2: 111,703,593 (GRCm39)	N202K	probably damaging	Het
Ovca2	A	G	11: 75,069,596 (GRCm39)	V9A	possibly damaging	Het
Pabpc1l	A	G	2: 163,869,536 (GRCm39)	N112S	probably damaging	Het
Plekho1	T	A	3: 95,899,496 (GRCm39)	N99I	probably damaging	Het
Recql5	A	C	11: 115,785,499 (GRCm39)	S666A	probably benign	Het
Scn3a	G	T	2: 65,338,833 (GRCm39)	H615Q	probably benign	Het
Sel1l3	A	G	5: 53,297,141 (GRCm39)		probably benign	Het
Slc38a2	A	T	15: 96,590,258 (GRCm39)	S328T	probably damaging	Het
Taok1	T	C	11: 77,466,503 (GRCm39)		probably benign	Het
Tsnax	T	A	8: 125,759,451 (GRCm39)	Y237*	probably null	Het
Ttn	T	A	2: 76,544,974 (GRCm39)	K24382N	probably damaging	Het
Ugt1a9	T	A	1: 87,999,165 (GRCm39)	V205E	possibly damaging	Het
Unc80	C	A	1: 66,569,145 (GRCm39)	D933E	possibly damaging	Het
Vnn1	A	T	10: 23,779,323 (GRCm39)	T411S	probably benign	Het
Wdr27	C	A	17: 15,128,860 (GRCm39)	G531V	possibly damaging	Het
Zfp760	G	T	17: 21,941,193 (GRCm39)	V123L	probably benign	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
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
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

2015-04-16