Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Vnn3'

368597

Institutional Source

Beutler Lab

Gene Symbol

Vnn3

Ensembl Gene

ENSMUSG00000020010

Gene Name

vanin 3

Synonyms

MMRRC Submission

041976-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23851462-23869843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23864621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 274 (H274R)

Ref Sequence

ENSEMBL: ENSMUSP00000020190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020190]

AlphaFold

Q9QZ25

Predicted Effect

probably benign
Transcript: ENSMUST00000020190
AA Change: H274R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020190
Gene: ENSMUSG00000020010
AA Change: H274R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:CN_hydrolase	51	296	6.9e-19	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	T	6: 50,595,837	P32Q	probably damaging	Het
Abcc6	C	T	7: 45,982,160	V1231M	probably benign	Het
Agl	A	G	3: 116,786,528		probably null	Het
Ak7	T	C	12: 105,710,145	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,619,985	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,283,183	L1368F	probably damaging	Het
Atp5j2	T	C	5: 145,184,555	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,646,727	F317V	probably benign	Het
Bank1	A	T	3: 136,254,929	S56T	probably benign	Het
BC080695	A	G	4: 143,570,989		probably benign	Het
Cachd1	T	A	4: 100,918,085	C166S	probably damaging	Het
Cand1	A	G	10: 119,210,702	I961T	probably benign	Het
Ccdc73	G	A	2: 104,981,105		probably null	Het
Cct6b	A	T	11: 82,742,004		probably null	Het
Chd2	A	C	7: 73,468,577	S1098A	probably benign	Het
Col6a4	A	T	9: 106,080,202	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,930,784	T1022A	unknown	Het
Cr2	A	T	1: 195,155,935	C698S	probably damaging	Het
Diexf	G	A	1: 193,128,267	H143Y	probably benign	Het
Dnaaf5	C	A	5: 139,184,650	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,095,074	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,721,117	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,301,198	T123S	probably damaging	Het
Edem1	T	G	6: 108,841,634	V201G	probably damaging	Het
Eef1d	C	T	15: 75,903,682	A43T	possibly damaging	Het
Elavl3	T	C	9: 22,024,678	K249E	probably damaging	Het
Epg5	G	T	18: 77,948,996	E303*	probably null	Het
Fam83h	T	C	15: 76,002,368	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,876,659	F211L	probably benign	Het
Fsip2	A	G	2: 82,982,108	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,450,683		noncoding transcript	Het
Gpr135	T	A	12: 72,069,868	D375V	probably benign	Het
Hgd	A	G	16: 37,631,825	*446W	probably null	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Htra2	A	G	6: 83,051,817	L379P	probably damaging	Het
Hypk	G	T	2: 121,457,655		probably null	Het
Ica1l	A	G	1: 60,010,201	F198L	probably damaging	Het
Igsf11	G	A	16: 39,024,864	S319N	probably damaging	Het
Il12rb1	T	C	8: 70,813,368	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,904,650	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,447,543	P530S	probably benign	Het
Kcnu1	T	C	8: 25,913,752	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,630,800	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,287,875	M12L	probably benign	Het
Klre1	T	C	6: 129,584,155	S160P	probably damaging	Het
Lama2	A	T	10: 27,467,271	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,453,322	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Lsr	T	C	7: 30,958,552	T328A	probably damaging	Het
Mark4	C	T	7: 19,451,657	E51K	probably benign	Het
Mindy2	T	C	9: 70,634,001		probably null	Het
Mkks	G	A	2: 136,876,162	T400I	probably benign	Het
Mon2	T	A	10: 123,006,057	M1544L	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myo5c	T	G	9: 75,290,916	L1341R	probably damaging	Het
Nin	T	C	12: 70,043,807	R945G	possibly damaging	Het
Nox4	T	C	7: 87,304,847	V120A	probably benign	Het
Olfr1196	C	T	2: 88,700,898	V144I	probably benign	Het
Olfr1496	T	A	19: 13,781,342	C243*	probably null	Het
Olfr169	G	T	16: 19,566,663	H73Q	possibly damaging	Het
Olfr30	A	T	11: 58,455,544	V135E	possibly damaging	Het
Olfr847	T	C	9: 19,375,809	E24G	probably benign	Het
Plekha2	T	A	8: 25,042,762	R398W	probably damaging	Het
Pradc1	A	G	6: 85,447,191	W58R	probably damaging	Het
Prrc2b	A	G	2: 32,217,339		probably null	Het
Psg19	T	A	7: 18,794,146	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,487,746	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,500,173	S211G	probably benign	Het
Rcc1l	G	A	5: 134,163,776	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,719,944		probably null	Het
Rnf222	A	T	11: 68,893,019	E137D	probably damaging	Het
Selenof	T	G	3: 144,596,823	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,603,813	D108E	probably damaging	Het
Shank3	T	A	15: 89,500,354	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,050,873	R45G	probably damaging	Het
Sirt4	T	C	5: 115,480,314	T234A	possibly damaging	Het
Slc25a30	C	A	14: 75,763,366	W266L	probably benign	Het
Spata20	A	T	11: 94,484,586	N127K	probably damaging	Het
St14	C	T	9: 31,095,622	G636D	probably benign	Het
Stat5a	G	A	11: 100,865,463	E170K	probably damaging	Het
Sugp2	C	T	8: 70,242,790	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,586,730	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,192,558	V608A	possibly damaging	Het
Syne2	T	C	12: 75,909,244	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,868,132	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,670,067	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,139,650	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,511,994		probably benign	Het
Tmx2	G	A	2: 84,677,996	P15L	probably damaging	Het
Top1mt	C	T	15: 75,668,625		probably null	Het
Trpm6	T	A	19: 18,867,981	S1682T	probably benign	Het
Trrap	C	T	5: 144,803,277	R1171W	probably damaging	Het
Ugt3a2	A	G	15: 9,361,579	D147G	probably damaging	Het
Vwf	C	A	6: 125,643,363	T1668K		Het
Zfp568	T	C	7: 30,015,183	S162P	probably damaging	Het
Zfp658	T	A	7: 43,574,466	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,171,231	H91Q	probably damaging	Het

Other mutations in Vnn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Vnn3	APN	10	23867168	missense	possibly damaging	0.77
IGL01300:Vnn3	APN	10	23864365	missense	possibly damaging	0.87
IGL01349:Vnn3	APN	10	23851916	missense	probably damaging	0.99
IGL02491:Vnn3	APN	10	23865918	missense	probably benign	0.11
IGL03256:Vnn3	APN	10	23851800	splice site	probably benign
IGL03289:Vnn3	APN	10	23865837	missense	possibly damaging	0.92
IGL02799:Vnn3	UTSW	10	23851971	missense	possibly damaging	0.64
R0599:Vnn3	UTSW	10	23865705	missense	possibly damaging	0.94
R1703:Vnn3	UTSW	10	23865930	missense	probably benign
R1753:Vnn3	UTSW	10	23865820	missense	probably benign	0.27
R2119:Vnn3	UTSW	10	23864413	missense	probably damaging	1.00
R2288:Vnn3	UTSW	10	23864456	missense	probably benign	0.03
R4255:Vnn3	UTSW	10	23865822	missense	probably benign	0.18
R4458:Vnn3	UTSW	10	23865669	missense	probably benign	0.23
R4518:Vnn3	UTSW	10	23867226	missense	possibly damaging	0.77
R4545:Vnn3	UTSW	10	23856326	missense	probably benign	0.00
R4723:Vnn3	UTSW	10	23851691	missense	possibly damaging	0.88
R4921:Vnn3	UTSW	10	23864575	missense	probably benign	0.01
R5152:Vnn3	UTSW	10	23864339	missense	probably benign	0.01
R5390:Vnn3	UTSW	10	23851585	start codon destroyed	probably null	1.00
R5545:Vnn3	UTSW	10	23867094	missense	probably benign	0.00
R6197:Vnn3	UTSW	10	23856289	missense	probably damaging	1.00
R6751:Vnn3	UTSW	10	23869625	missense	probably benign	0.00
R6846:Vnn3	UTSW	10	23851722	missense	probably benign
R6917:Vnn3	UTSW	10	23865934	missense	possibly damaging	0.50
R7073:Vnn3	UTSW	10	23864413	missense	probably damaging	1.00
R7100:Vnn3	UTSW	10	23865942	missense	probably damaging	1.00
R7152:Vnn3	UTSW	10	23851615	missense	possibly damaging	0.88
R7336:Vnn3	UTSW	10	23851908	missense	probably benign	0.42
R7421:Vnn3	UTSW	10	23865768	missense	probably benign	0.06
R7875:Vnn3	UTSW	10	23867248	missense	possibly damaging	0.80
R8353:Vnn3	UTSW	10	23869545	missense	probably benign	0.01
R8453:Vnn3	UTSW	10	23869545	missense	probably benign	0.01
R8465:Vnn3	UTSW	10	23865882	missense	possibly damaging	0.67
R9105:Vnn3	UTSW	10	23864563	missense	probably damaging	1.00
R9261:Vnn3	UTSW	10	23865709	missense	probably damaging	0.97
R9441:Vnn3	UTSW	10	23864600	missense	possibly damaging	0.94
R9718:Vnn3	UTSW	10	23869556	nonsense	probably null
R9737:Vnn3	UTSW	10	23865915	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGAAGTTTGGCATCTTCACTTG -3'
(R):5'- TTGCCTGTCCTCAGAAAGTAAAC -3'

Sequencing Primer
(F):5'- GACATTTTCTCTTATGACCCAGCTG -3'
(R):5'- TGTCCTCAGAAAGTAAACCCATAAG -3'

Posted On

2016-02-04