Mutagenetix > Incidental Mutation

Incidental Mutation 'R2288:Vnn3'

244183

Institutional Source

Beutler Lab

Gene Symbol

Vnn3

Ensembl Gene

ENSMUSG00000020010

Gene Name

vanin 3

Synonyms

MMRRC Submission

040287-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23727360-23745741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23740354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 219 (D219G)

Ref Sequence

ENSEMBL: ENSMUSP00000020190 (fasta)

Gene Model

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

AlphaFold

Q9QZ25

Predicted Effect

probably benign
Transcript: ENSMUST00000020190
AA Change: D219G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020190
Gene: ENSMUSG00000020010
AA Change: D219G

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	T	C	17: 42,978,402 (GRCm39)	T314A	probably benign	Het
Ces2a	T	C	8: 105,464,069 (GRCm39)	S234P	probably damaging	Het
Cfh	A	T	1: 140,026,639 (GRCm39)	N571K	possibly damaging	Het
Clasp1	A	G	1: 118,506,608 (GRCm39)	I940V	probably benign	Het
Dapk1	T	C	13: 60,909,563 (GRCm39)	L1392S	probably damaging	Het
Fbxw19	T	A	9: 109,322,636 (GRCm39)	L111F	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Nek10	G	T	14: 14,853,956 (GRCm38)	E381*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or5m3b	T	A	2: 85,872,377 (GRCm39)	C239*	probably null	Het
Peg3	T	C	7: 6,712,114 (GRCm39)	E1036G	probably damaging	Het
Pgap4	A	T	4: 49,586,445 (GRCm39)	L241Q	probably damaging	Het
Psma3	T	G	12: 71,041,145 (GRCm39)	D173E	possibly damaging	Het
Ptpn14	T	C	1: 189,597,695 (GRCm39)	L1135P	probably damaging	Het
Sfxn1	A	G	13: 54,247,976 (GRCm39)	I234V	probably benign	Het
Tcf20	A	G	15: 82,735,886 (GRCm39)	V1855A	probably benign	Het
Tctn3	A	T	19: 40,594,157 (GRCm39)	C419S	probably damaging	Het
Tlr3	T	A	8: 45,850,705 (GRCm39)	I207F	probably damaging	Het
Ubr1	T	A	2: 120,739,963 (GRCm39)	R992S	probably damaging	Het
V1ra8	T	C	6: 90,180,024 (GRCm39)	S76P	probably damaging	Het
Zfp536	T	A	7: 37,179,773 (GRCm39)	D944V	probably damaging	Het
Zfp683	CGGG	CCGGGGG	4: 133,783,381 (GRCm39)		probably benign	Het

Other mutations in Vnn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Vnn3	APN	10	23,743,066 (GRCm39)	missense	possibly damaging	0.77
IGL01300:Vnn3	APN	10	23,740,263 (GRCm39)	missense	possibly damaging	0.87
IGL01349:Vnn3	APN	10	23,727,814 (GRCm39)	missense	probably damaging	0.99
IGL02491:Vnn3	APN	10	23,741,816 (GRCm39)	missense	probably benign	0.11
IGL03256:Vnn3	APN	10	23,727,698 (GRCm39)	splice site	probably benign
IGL03289:Vnn3	APN	10	23,741,735 (GRCm39)	missense	possibly damaging	0.92
IGL02799:Vnn3	UTSW	10	23,727,869 (GRCm39)	missense	possibly damaging	0.64
R0599:Vnn3	UTSW	10	23,741,603 (GRCm39)	missense	possibly damaging	0.94
R1703:Vnn3	UTSW	10	23,741,828 (GRCm39)	missense	probably benign
R1753:Vnn3	UTSW	10	23,741,718 (GRCm39)	missense	probably benign	0.27
R2119:Vnn3	UTSW	10	23,740,311 (GRCm39)	missense	probably damaging	1.00
R4255:Vnn3	UTSW	10	23,741,720 (GRCm39)	missense	probably benign	0.18
R4458:Vnn3	UTSW	10	23,741,567 (GRCm39)	missense	probably benign	0.23
R4518:Vnn3	UTSW	10	23,743,124 (GRCm39)	missense	possibly damaging	0.77
R4545:Vnn3	UTSW	10	23,732,224 (GRCm39)	missense	probably benign	0.00
R4723:Vnn3	UTSW	10	23,727,589 (GRCm39)	missense	possibly damaging	0.88
R4791:Vnn3	UTSW	10	23,740,519 (GRCm39)	missense	probably benign
R4921:Vnn3	UTSW	10	23,740,473 (GRCm39)	missense	probably benign	0.01
R5152:Vnn3	UTSW	10	23,740,237 (GRCm39)	missense	probably benign	0.01
R5390:Vnn3	UTSW	10	23,727,483 (GRCm39)	start codon destroyed	probably null	1.00
R5545:Vnn3	UTSW	10	23,742,992 (GRCm39)	missense	probably benign	0.00
R6197:Vnn3	UTSW	10	23,732,187 (GRCm39)	missense	probably damaging	1.00
R6751:Vnn3	UTSW	10	23,745,523 (GRCm39)	missense	probably benign	0.00
R6846:Vnn3	UTSW	10	23,727,620 (GRCm39)	missense	probably benign
R6917:Vnn3	UTSW	10	23,741,832 (GRCm39)	missense	possibly damaging	0.50
R7073:Vnn3	UTSW	10	23,740,311 (GRCm39)	missense	probably damaging	1.00
R7100:Vnn3	UTSW	10	23,741,840 (GRCm39)	missense	probably damaging	1.00
R7152:Vnn3	UTSW	10	23,727,513 (GRCm39)	missense	possibly damaging	0.88
R7336:Vnn3	UTSW	10	23,727,806 (GRCm39)	missense	probably benign	0.42
R7421:Vnn3	UTSW	10	23,741,666 (GRCm39)	missense	probably benign	0.06
R7875:Vnn3	UTSW	10	23,743,146 (GRCm39)	missense	possibly damaging	0.80
R8353:Vnn3	UTSW	10	23,745,443 (GRCm39)	missense	probably benign	0.01
R8453:Vnn3	UTSW	10	23,745,443 (GRCm39)	missense	probably benign	0.01
R8465:Vnn3	UTSW	10	23,741,780 (GRCm39)	missense	possibly damaging	0.67
R9105:Vnn3	UTSW	10	23,740,461 (GRCm39)	missense	probably damaging	1.00
R9261:Vnn3	UTSW	10	23,741,607 (GRCm39)	missense	probably damaging	0.97
R9441:Vnn3	UTSW	10	23,740,498 (GRCm39)	missense	possibly damaging	0.94
R9718:Vnn3	UTSW	10	23,745,454 (GRCm39)	nonsense	probably null
R9737:Vnn3	UTSW	10	23,741,813 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTTCATGGAACCATATGCACTTC -3'
(R):5'- ACCTGTCATATGCATGCTGGTG -3'

Sequencing Primer
(F):5'- ACCATATGCACTTCAATATACATGG -3'
(R):5'- CATATGCATGCTGGTGTTGTG -3'

Posted On

2014-10-30