Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Vnn1'

561828

Institutional Source

Beutler Lab

Gene Symbol

Vnn1

Ensembl Gene

ENSMUSG00000037440

Gene Name

vanin 1

Synonyms

V-1, pantetheinase

MMRRC Submission

045293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23770586-23781241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23770952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 60 (D60G)

Ref Sequence

ENSEMBL: ENSMUSP00000040599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041416]

AlphaFold

Q9Z0K8

Predicted Effect

probably benign
Transcript: ENSMUST00000041416
AA Change: D60G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: D60G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:CN_hydrolase	52	279	2.5e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruptions of this gene develop normally and so no abnormalities in the maturation of lymphoid organs. However, membrane bound pantetheinase is absent in livers and kidneys resuulting in an absence of cysteamine in these organs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,354 (GRCm39)		probably benign	Het
Abr	A	C	11: 76,313,987 (GRCm39)	M720R	probably benign	Het
Acad10	G	A	5: 121,768,273 (GRCm39)	T761M	probably damaging	Het
Agxt	G	T	1: 93,065,623 (GRCm39)	G164V	possibly damaging	Het
Ankar	C	T	1: 72,689,390 (GRCm39)	G1247D	probably damaging	Het
Bptf	A	C	11: 106,945,658 (GRCm39)	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,094,117 (GRCm39)	H195R	possibly damaging	Het
Cacna2d4	G	T	6: 119,213,624 (GRCm39)	R14S	probably benign	Het
Cep126	A	T	9: 8,100,988 (GRCm39)	C515*	probably null	Het
Chia1	A	T	3: 106,039,236 (GRCm39)	N442I	probably damaging	Het
Clasp2	A	G	9: 113,681,825 (GRCm39)	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,215,581 (GRCm39)	F519L	probably benign	Het
Cntrl	T	A	2: 35,041,869 (GRCm39)	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,839,491 (GRCm39)	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,493,175 (GRCm39)	Q223R	possibly damaging	Het
Defb37	A	T	8: 19,040,988 (GRCm39)	M1K	probably null	Het
Dnah7c	A	T	1: 46,494,937 (GRCm39)	Q55L	possibly damaging	Het
Efcab3	A	G	11: 104,791,432 (GRCm39)	N2882S	probably benign	Het
Eif2b4	A	T	5: 31,345,131 (GRCm39)	D463E	possibly damaging	Het
Elapor1	T	G	3: 108,382,317 (GRCm39)	D232A	possibly damaging	Het
Elovl1	C	T	4: 118,288,811 (GRCm39)	H167Y	probably damaging	Het
Emb	T	A	13: 117,404,013 (GRCm39)	L255Q	probably damaging	Het
Eogt	T	C	6: 97,089,685 (GRCm39)	Y465C	probably damaging	Het
Erc2	A	G	14: 27,375,115 (GRCm39)	H111R	probably damaging	Het
Fam234b	T	C	6: 135,205,529 (GRCm39)	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,890,092 (GRCm39)		probably null	Het
Flrt3	T	A	2: 140,503,090 (GRCm39)	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,793,597 (GRCm39)	R993G	probably benign	Het
Gm14325	T	C	2: 177,476,403 (GRCm39)	T14A	probably damaging	Het
Gm5464	T	A	14: 67,106,681 (GRCm39)	V106D	unknown	Het
Gpatch11	T	A	17: 79,149,546 (GRCm39)	I182N	possibly damaging	Het
Grm6	A	G	11: 50,753,870 (GRCm39)	R725G	probably damaging	Het
Hap1	A	T	11: 100,239,655 (GRCm39)	M588K	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613 (GRCm39)	M648T	probably benign	Het
Ipo11	A	T	13: 107,029,065 (GRCm39)	L296Q	probably damaging	Het
Kirrel1	G	A	3: 86,993,704 (GRCm39)	Q518*	probably null	Het
Krt18	G	T	15: 101,937,967 (GRCm39)	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,026,217 (GRCm39)	K91*	probably null	Het
Marf1	C	A	16: 13,960,349 (GRCm39)	R565L	probably damaging	Het
Med13	A	T	11: 86,178,921 (GRCm39)	D1458E	probably benign	Het
Mroh8	T	A	2: 157,071,837 (GRCm39)	Y556F	probably benign	Het
Muc16	C	T	9: 18,553,495 (GRCm39)	G4266D	probably benign	Het
Nsrp1	A	T	11: 76,939,249 (GRCm39)	F182I	probably damaging	Het
Obox3	A	T	7: 15,359,983 (GRCm39)	Y229N	probably benign	Het
Or11h7	A	T	14: 50,891,528 (GRCm39)	Y278F	probably damaging	Het
Or2b2	T	C	13: 21,887,272 (GRCm39)	S34P	probably damaging	Het
Or2b4	A	G	17: 38,116,452 (GRCm39)	K139E	probably benign	Het
Or4a74	T	C	2: 89,440,272 (GRCm39)	Y58C	probably damaging	Het
Or4c108	A	G	2: 88,803,497 (GRCm39)	V246A	probably damaging	Het
Or4p22	T	A	2: 88,317,973 (GRCm39)	V299D	probably damaging	Het
Or8d1	A	G	9: 38,766,538 (GRCm39)	Y60C	probably damaging	Het
Pabpc2	T	A	18: 39,906,963 (GRCm39)	V76D	possibly damaging	Het
Parp9	T	C	16: 35,774,071 (GRCm39)	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004 (GRCm39)	T455A	probably damaging	Het
Phactr2	A	C	10: 13,122,783 (GRCm39)	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,901,500 (GRCm39)	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,131,476 (GRCm39)	R749H	probably benign	Het
Plec	A	G	15: 76,059,974 (GRCm39)	V3321A	probably damaging	Het
Plod2	T	C	9: 92,466,580 (GRCm39)	V180A	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Potefam3d	T	G	8: 69,975,316 (GRCm39)	D50A	probably benign	Het
Rubcn	T	C	16: 32,687,293 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,446,255 (GRCm39)	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,611,133 (GRCm39)	Y414*	probably null	Het
Slc45a4	A	T	15: 73,458,259 (GRCm39)	M430K	probably benign	Het
Smg1	A	G	7: 117,782,020 (GRCm39)	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,347,742 (GRCm39)	V316A	probably benign	Het
Srl	T	A	16: 4,300,811 (GRCm39)	E753D	probably damaging	Het
Thada	T	C	17: 84,771,794 (GRCm39)	T23A	possibly damaging	Het
Tmem231	T	C	8: 112,660,308 (GRCm39)	T31A	probably benign	Het
Tpr	C	T	1: 150,321,929 (GRCm39)	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,772,195 (GRCm39)	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,724,034 (GRCm39)	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,316,001 (GRCm39)	T466S	probably benign	Het
Wiz	G	A	17: 32,578,139 (GRCm39)	P449S	probably benign	Het
Zic1	A	G	9: 91,246,785 (GRCm39)	S96P	probably damaging	Het
Zw10	T	A	9: 48,981,012 (GRCm39)	S471T	probably benign	Het

Other mutations in Vnn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Vnn1	APN	10	23,776,677 (GRCm39)	missense	possibly damaging	0.51
IGL01299:Vnn1	APN	10	23,770,949 (GRCm39)	missense	probably damaging	1.00
IGL01353:Vnn1	APN	10	23,776,738 (GRCm39)	missense	probably damaging	1.00
IGL01774:Vnn1	APN	10	23,776,608 (GRCm39)	missense	probably benign	0.26
IGL01970:Vnn1	APN	10	23,773,300 (GRCm39)	missense	probably benign	0.06
IGL01985:Vnn1	APN	10	23,776,642 (GRCm39)	missense	probably benign	0.00
IGL02019:Vnn1	APN	10	23,779,449 (GRCm39)	missense	possibly damaging	0.69
IGL02198:Vnn1	APN	10	23,779,323 (GRCm39)	missense	probably benign	0.00
IGL02349:Vnn1	APN	10	23,774,401 (GRCm39)	missense	possibly damaging	0.91
IGL02738:Vnn1	APN	10	23,780,520 (GRCm39)	missense	probably benign	0.00
IGL03058:Vnn1	APN	10	23,780,442 (GRCm39)	missense	probably benign	0.06
R0008:Vnn1	UTSW	10	23,774,500 (GRCm39)	critical splice donor site	probably null
R0030:Vnn1	UTSW	10	23,776,744 (GRCm39)	missense	probably benign	0.08
R0508:Vnn1	UTSW	10	23,770,910 (GRCm39)	missense	probably benign	0.01
R0781:Vnn1	UTSW	10	23,775,499 (GRCm39)	missense	possibly damaging	0.46
R1110:Vnn1	UTSW	10	23,775,499 (GRCm39)	missense	possibly damaging	0.46
R1757:Vnn1	UTSW	10	23,776,727 (GRCm39)	missense	probably benign	0.00
R1757:Vnn1	UTSW	10	23,776,726 (GRCm39)	missense	possibly damaging	0.49
R1778:Vnn1	UTSW	10	23,775,415 (GRCm39)	missense	possibly damaging	0.67
R2011:Vnn1	UTSW	10	23,770,869 (GRCm39)	nonsense	probably null
R2055:Vnn1	UTSW	10	23,776,475 (GRCm39)	splice site	probably benign
R2158:Vnn1	UTSW	10	23,776,653 (GRCm39)	nonsense	probably null
R2186:Vnn1	UTSW	10	23,773,299 (GRCm39)	missense	probably benign	0.29
R4277:Vnn1	UTSW	10	23,774,410 (GRCm39)	missense	possibly damaging	0.89
R4279:Vnn1	UTSW	10	23,774,410 (GRCm39)	missense	possibly damaging	0.89
R4473:Vnn1	UTSW	10	23,770,789 (GRCm39)	missense	probably benign
R4590:Vnn1	UTSW	10	23,775,303 (GRCm39)	missense	possibly damaging	0.61
R4708:Vnn1	UTSW	10	23,773,250 (GRCm39)	missense	probably benign	0.01
R4794:Vnn1	UTSW	10	23,776,602 (GRCm39)	missense	probably benign	0.01
R5266:Vnn1	UTSW	10	23,779,303 (GRCm39)	missense	probably damaging	1.00
R5495:Vnn1	UTSW	10	23,774,462 (GRCm39)	missense	probably damaging	0.98
R6064:Vnn1	UTSW	10	23,770,807 (GRCm39)	missense	probably benign	0.05
R7081:Vnn1	UTSW	10	23,770,903 (GRCm39)	missense	possibly damaging	0.66
R7088:Vnn1	UTSW	10	23,776,645 (GRCm39)	missense	probably benign	0.00
R7334:Vnn1	UTSW	10	23,776,658 (GRCm39)	missense	probably benign	0.04
R8784:Vnn1	UTSW	10	23,780,526 (GRCm39)	missense	probably benign
R8859:Vnn1	UTSW	10	23,780,484 (GRCm39)	missense	probably benign	0.01
R8926:Vnn1	UTSW	10	23,776,587 (GRCm39)	missense	probably benign	0.04
R8987:Vnn1	UTSW	10	23,776,714 (GRCm39)	missense	probably damaging	0.98
R9002:Vnn1	UTSW	10	23,775,349 (GRCm39)	missense	possibly damaging	0.82
R9091:Vnn1	UTSW	10	23,780,464 (GRCm39)	missense	probably damaging	1.00
R9270:Vnn1	UTSW	10	23,780,464 (GRCm39)	missense	probably damaging	1.00
R9276:Vnn1	UTSW	10	23,776,794 (GRCm39)	missense	probably damaging	1.00
R9453:Vnn1	UTSW	10	23,776,723 (GRCm39)	missense	probably damaging	0.96
R9557:Vnn1	UTSW	10	23,776,723 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAGGTTTTGGTTTCCCGCAG -3'
(R):5'- TATGCTAATGTAGTGAGCGGAAC -3'

Sequencing Primer
(F):5'- ACTTCAGCATGGGCATGTC -3'
(R):5'- CTAATGTAGTGAGCGGAACTGACCC -3'

Posted On

2019-06-26