Mutagenetix > Incidental Mutation

Incidental Mutation 'R9703:Ovch2'

729660

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9703 (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 107784570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 523 (I523F)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: I523F

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

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: I523F

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: 99.3%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,932,695	T625A	probably benign	Het
Adam20	T	A	8: 40,795,934	N360K	probably damaging	Het
Apob	T	A	12: 7,980,507	L82Q	probably damaging	Het
Arhgap30	T	G	1: 171,407,771	L571R	probably damaging	Het
Atg9a	C	T	1: 75,185,787	C493Y	probably damaging	Het
Brip1	T	C	11: 86,062,004	T984A	possibly damaging	Het
Btbd9	A	G	17: 30,530,226	V38A	possibly damaging	Het
C87977	T	A	4: 144,212,940	D9V	probably damaging	Het
Crocc2	C	A	1: 93,202,722	D908E	probably benign	Het
Crybg3	C	G	16: 59,555,576	A58P	probably damaging	Het
Cts7	T	C	13: 61,356,536	N71S	probably damaging	Het
Ddx46	A	G	13: 55,676,822	Y962C	probably damaging	Het
Dock10	G	A	1: 80,539,823	R1373C	probably damaging	Het
Dock9	A	T	14: 121,544,577	*2043R	probably null	Het
Efs	A	T	14: 54,919,414	V388E	possibly damaging	Het
Esyt1	C	T	10: 128,518,927		probably null	Het
Extl3	G	T	14: 65,054,654	R907S	probably damaging	Het
Fcgbp	G	A	7: 28,106,975	V2123M	probably damaging	Het
Gas2l3	C	T	10: 89,414,081	A392T	probably benign	Het
Golm1	A	T	13: 59,649,619	D137E	probably benign	Het
Grxcr2	T	C	18: 41,991,923	D140G	possibly damaging	Het
Hist2h2aa2	G	A	3: 96,240,241	R4C	probably benign	Het
Hrh1	G	A	6: 114,481,018	C420Y	probably benign	Het
Ints13	A	T	6: 146,557,565	L316Q	probably damaging	Het
Iws1	T	A	18: 32,079,685	D55E	probably damaging	Het
Kcnrg	CACAACAA	CACAA	14: 61,607,560		probably benign	Het
Klrc2	G	C	6: 129,656,444	S215*	probably null	Het
Mpp5	T	A	12: 78,797,076	I18K	probably benign	Het
Muc5b	A	G	7: 141,871,798	T4727A	possibly damaging	Het
Nsd3	T	C	8: 25,641,212	S198P	probably benign	Het
Olfr133	A	T	17: 38,148,965	I126F	possibly damaging	Het
Olfr807	A	T	10: 129,755,417	I11N	possibly damaging	Het
Pcdhb1	T	A	18: 37,265,966	D323E	probably damaging	Het
Pfkl	T	A	10: 77,990,308		probably null	Het
Pigc	T	A	1: 161,970,607	F53I	probably benign	Het
Prph2	G	A	17: 46,923,521	A339T	unknown	Het
Prrc2a	T	C	17: 35,159,344	K452E	unknown	Het
Rab36	T	C	10: 75,050,642	W151R	possibly damaging	Het
Sdk1	A	G	5: 142,114,528	T1438A	possibly damaging	Het
Slc25a17	A	T	15: 81,339,992	I55K	probably damaging	Het
Smg1	A	T	7: 118,140,521	I3401N	possibly damaging	Het
Smpd3	T	A	8: 106,265,081	H280L	probably damaging	Het
Srsf10	A	G	4: 135,863,842	H202R	probably benign	Het
Swap70	C	T	7: 110,273,305	R376C	probably damaging	Het
Syde1	G	T	10: 78,585,723	L665M	probably damaging	Het
Tha1	A	G	11: 117,871,037	V126A	probably damaging	Het
Tln2	T	C	9: 67,386,656	H230R	probably damaging	Het
Tnc	G	A	4: 63,971,175	A1698V	probably benign	Het
Twist2	C	A	1: 91,802,022	S132R	probably damaging	Het
Ubr1	C	T	2: 120,901,611	C1170Y	probably damaging	Het
Vwa1	G	A	4: 155,772,879	P154L	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
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
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
R9717:Ovch2	UTSW	7	107794377	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGCAGCTACCAGTAAAGAGC -3'
(R):5'- CACATTTTGAAGAGGCAGATCC -3'

Sequencing Primer
(F):5'- TACCAGTAAAGAGCTTCAGTGGTGTC -3'
(R):5'- TACATCACTCAACCTGCCT -3'

Posted On

2022-10-06