Mutagenetix > Incidental Mutation

Incidental Mutation 'R8926:Vnn1'

679557

Institutional Source

Beutler Lab

Gene Symbol

Vnn1

Ensembl Gene

ENSMUSG00000037440

Gene Name

vanin 1

Synonyms

V-1, pantetheinase

MMRRC Submission

068770-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8926 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23770586-23781241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23776587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 313 (S313A)

Ref Sequence

ENSEMBL: ENSMUSP00000040599 (fasta)

Gene Model

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

AlphaFold

Q9Z0K8

Predicted Effect

probably benign
Transcript: ENSMUST00000041416
AA Change: S313A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: S313A

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,405,446 (GRCm39)	D296V	possibly damaging	Het
Ahi1	T	C	10: 20,930,982 (GRCm39)	Y941H	probably damaging	Het
Bscl2	T	C	19: 8,825,348 (GRCm39)		probably null	Het
C1s1	C	T	6: 124,510,325 (GRCm39)	G374D	probably damaging	Het
C1s1	T	C	6: 124,513,322 (GRCm39)	D235G	possibly damaging	Het
Cacna1e	C	T	1: 154,577,080 (GRCm39)	V106I	possibly damaging	Het
Ccdc97	G	A	7: 25,412,494 (GRCm39)	A316V	probably benign	Het
Ces1a	A	G	8: 93,751,841 (GRCm39)	V431A	probably benign	Het
Cftr	C	T	6: 18,268,003 (GRCm39)	S684L	possibly damaging	Het
Cgnl1	T	A	9: 71,632,535 (GRCm39)	N272I	probably benign	Het
Csf2rb	C	T	15: 78,224,749 (GRCm39)	S169L	probably benign	Het
Cux1	T	A	5: 136,338,404 (GRCm39)		probably benign	Het
Cyp11b1	T	A	15: 74,711,087 (GRCm39)	Y197F	probably benign	Het
Cyp1a2	T	C	9: 57,588,361 (GRCm39)	K288E	probably benign	Het
Dapk1	T	A	13: 60,908,734 (GRCm39)	W1116R	probably damaging	Het
Dclre1c	A	T	2: 3,434,827 (GRCm39)	D97V	probably damaging	Het
Efcc1	A	G	6: 87,726,169 (GRCm39)	R323G	probably benign	Het
Epha6	T	A	16: 59,659,662 (GRCm39)	I819F	probably benign	Het
Fam118b	A	T	9: 35,146,732 (GRCm39)	L45Q	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,869 (GRCm39)	C1611Y	probably damaging	Het
Fsd1l	T	G	4: 53,686,493 (GRCm39)	I302S	probably benign	Het
Fsip2	T	A	2: 82,823,927 (GRCm39)	D6553E	possibly damaging	Het
Gje1	C	T	10: 14,592,435 (GRCm39)	V116I	probably benign	Het
H2-T9	T	A	17: 36,420,626 (GRCm39)		probably null	Het
Helz	C	A	11: 107,563,509 (GRCm39)	H1650N	unknown	Het
Hltf	T	G	3: 20,123,323 (GRCm39)		probably null	Het
Intu	T	A	3: 40,608,139 (GRCm39)	D50E	possibly damaging	Het
Ipo9	C	T	1: 135,313,952 (GRCm39)		probably benign	Het
Lama5	G	A	2: 179,835,783 (GRCm39)	T1217I	probably benign	Het
Lct	T	A	1: 128,228,148 (GRCm39)	Y1115F	probably damaging	Het
Lpgat1	T	C	1: 191,492,120 (GRCm39)	L202P	probably damaging	Het
Lrp1	C	T	10: 127,381,671 (GRCm39)	R3801H	probably benign	Het
Mtfmt	T	A	9: 65,344,414 (GRCm39)	Y113*	probably null	Het
Myh7	A	G	14: 55,222,533 (GRCm39)	F801L	probably benign	Het
Myl4	G	T	11: 104,476,572 (GRCm39)	M191I	probably benign	Het
Myo3a	C	A	2: 22,401,074 (GRCm39)	N614K	possibly damaging	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nol10	C	A	12: 17,466,871 (GRCm39)	Q584K	probably benign	Het
Nup210	C	A	6: 91,030,434 (GRCm39)	G919C	probably damaging	Het
Or13a20	G	A	7: 140,232,113 (GRCm39)	V74M	probably benign	Het
Or5p57	G	A	7: 107,665,513 (GRCm39)	T134I	probably benign	Het
Pdcd6ip	T	A	9: 113,514,493 (GRCm39)	Q244L	probably benign	Het
Pde4d	T	C	13: 110,074,625 (GRCm39)	V410A	probably benign	Het
Plekha7	A	T	7: 115,756,223 (GRCm39)		probably benign	Het
Plpp4	A	T	7: 128,923,211 (GRCm39)		probably null	Het
Poln	T	C	5: 34,286,769 (GRCm39)	N133S	probably benign	Het
Ppfibp1	A	G	6: 146,920,986 (GRCm39)	N575D	probably damaging	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prkar2b	A	G	12: 32,111,080 (GRCm39)	M1T	probably null	Het
Ptcd3	A	G	6: 71,869,464 (GRCm39)	F378S	probably damaging	Het
Rab27b	C	A	18: 70,129,144 (GRCm39)	R50L	probably damaging	Het
Rpl7a	T	G	2: 26,801,557 (GRCm39)	F83C	probably damaging	Het
Slc8a2	A	G	7: 15,868,194 (GRCm39)	E142G	probably damaging	Het
Slc9a4	A	T	1: 40,619,928 (GRCm39)	I85L	possibly damaging	Het
Sorcs1	C	A	19: 50,241,096 (GRCm39)	W430L	possibly damaging	Het
Spaca6	T	A	17: 18,058,790 (GRCm39)		probably null	Het
Synrg	C	A	11: 83,881,567 (GRCm39)	A301E	possibly damaging	Het
Tcl1	G	A	12: 105,184,969 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,153,780 (GRCm39)	V158M	probably damaging	Het
Tex2	T	G	11: 106,459,230 (GRCm39)	T67P		Het
Tlr9	A	T	9: 106,103,213 (GRCm39)	I835L	probably benign	Het
Tmem185b	G	C	1: 119,454,406 (GRCm39)	V56L	probably benign	Het
Tssk2	C	T	16: 17,717,562 (GRCm39)	R322W	probably benign	Het
Ttn	T	A	2: 76,571,735 (GRCm39)	Y26386F	probably benign	Het
Txndc16	C	A	14: 45,406,771 (GRCm39)	R228I	possibly damaging	Het
Uspl1	T	G	5: 149,138,701 (GRCm39)		probably null	Het
Vmn1r113	A	T	7: 20,521,874 (GRCm39)	H222L	possibly damaging	Het
Zc3hc1	A	T	6: 30,374,887 (GRCm39)	L218Q	possibly damaging	Het
Znrf1	T	G	8: 112,264,143 (GRCm39)	L124R	probably damaging	Het
Zzz3	A	T	3: 152,133,529 (GRCm39)	N196Y	possibly damaging	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
R7221:Vnn1	UTSW	10	23,770,952 (GRCm39)	missense	probably benign	0.07
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
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'- TCTCTGCCCAGTATATTTTAAGGG -3'
(R):5'- TGGTAGCTTAGGTGACAGCAG -3'

Sequencing Primer
(F):5'- TGCTGCTTAGAAGGAATAAGACAATG -3'
(R):5'- CTTAGGTGACAGCAGAGGTCATTC -3'

Posted On

2021-08-02