Mutagenetix > Incidental Mutation

Incidental Mutation 'R1071:Vtn'

86197

Institutional Source

Beutler Lab

Gene Symbol

Vtn

Ensembl Gene

ENSMUSG00000017344

Gene Name

vitronectin

Synonyms

MMRRC Submission

039157-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78389946-78393151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78392602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 393 (N393K)

Ref Sequence

ENSEMBL: ENSMUSP00000017488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001130] [ENSMUST00000017488] [ENSMUST00000061174] [ENSMUST00000108287] [ENSMUST00000125670]

AlphaFold

P29788

Predicted Effect

probably benign
Transcript: ENSMUST00000001130

SMART Domains

Protein: ENSMUSP00000001130
Gene: ENSMUSG00000001103

Domain	Start	End	E-Value	Type
HOX	18	80	2.05e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000017488
AA Change: N393K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344
AA Change: N393K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SO	20	62	2.45e-13	SMART
HX	160	203	7.81e-8	SMART
HX	205	251	2.46e-14	SMART
HX	253	303	9.19e-5	SMART
low complexity region	358	400	N/A	INTRINSIC
HX	426	473	1.59e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061174

SMART Domains

Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	221	236	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
SAM	409	476	1.46e-19	SMART
SAM	479	548	9.5e-10	SMART
TIR	561	702	6.73e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108287

SMART Domains

Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	221	236	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
SAM	409	476	1.46e-19	SMART
SAM	479	548	2.15e-8	SMART
TIR	601	742	6.73e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125670

SMART Domains

Protein: ENSMUSP00000129606
Gene: ENSMUSG00000001103

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153628

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes and heterozygotes for a targeted null mutation appear to develop, mature, and reproduce normally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	T	C	10: 80,147,336 (GRCm39)	S768P	probably damaging	Het
Bub1b	CAT	C	2: 118,462,928 (GRCm39)		probably null	Het
Cplane1	T	A	15: 8,247,910 (GRCm39)	H1486Q	probably benign	Het
Eml4	G	T	17: 83,785,468 (GRCm39)	E878*	probably null	Het
Plcb1	A	G	2: 135,167,577 (GRCm39)	D457G	possibly damaging	Het
Prepl	T	C	17: 85,377,940 (GRCm39)	Y480C	probably damaging	Het
Senp6	T	A	9: 80,044,011 (GRCm39)	Y708N	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Ugt3a1	T	C	15: 9,367,454 (GRCm39)	V399A	possibly damaging	Het
Vmn1r30	A	T	6: 58,412,813 (GRCm39)	N6K	possibly damaging	Het
Vmn2r3	G	A	3: 64,182,697 (GRCm39)	T334I	possibly damaging	Het
Zfp786	T	C	6: 47,798,239 (GRCm39)	D233G	possibly damaging	Het
Zmym2	A	G	14: 57,197,278 (GRCm39)	T1349A	possibly damaging	Het

Other mutations in Vtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Vtn	APN	11	78,390,200 (GRCm39)	missense	probably benign
IGL02515:Vtn	APN	11	78,392,480 (GRCm39)	missense	probably damaging	1.00
R0722:Vtn	UTSW	11	78,391,680 (GRCm39)	unclassified	probably benign
R1738:Vtn	UTSW	11	78,390,422 (GRCm39)	missense	possibly damaging	0.88
R1848:Vtn	UTSW	11	78,391,393 (GRCm39)	missense	probably damaging	0.99
R1980:Vtn	UTSW	11	78,392,724 (GRCm39)	missense	probably damaging	0.98
R1998:Vtn	UTSW	11	78,390,542 (GRCm39)	missense	probably damaging	1.00
R2125:Vtn	UTSW	11	78,391,049 (GRCm39)	missense	probably damaging	1.00
R4322:Vtn	UTSW	11	78,390,916 (GRCm39)	unclassified	probably benign
R4590:Vtn	UTSW	11	78,393,032 (GRCm39)	missense	probably damaging	1.00
R4771:Vtn	UTSW	11	78,392,400 (GRCm39)	missense	probably benign
R5684:Vtn	UTSW	11	78,391,384 (GRCm39)	missense	probably damaging	1.00
R6177:Vtn	UTSW	11	78,390,836 (GRCm39)	missense	probably damaging	1.00
R6716:Vtn	UTSW	11	78,391,052 (GRCm39)	missense	probably damaging	1.00
R7202:Vtn	UTSW	11	78,391,626 (GRCm39)	missense	possibly damaging	0.88
R8734:Vtn	UTSW	11	78,391,090 (GRCm39)	unclassified	probably benign
R9126:Vtn	UTSW	11	78,391,256 (GRCm39)	missense	probably damaging	1.00
R9377:Vtn	UTSW	11	78,390,587 (GRCm39)	missense	probably benign	0.00
R9780:Vtn	UTSW	11	78,393,003 (GRCm39)	missense	probably damaging	1.00
R9799:Vtn	UTSW	11	78,392,625 (GRCm39)	missense	probably benign	0.00
X0058:Vtn	UTSW	11	78,390,778 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTACAGATGGAGCCAGAGAACCC -3'
(R):5'- GCCTAGCCAAAACCAGTCTAAGGAG -3'

Sequencing Primer
(F):5'- CAATTCATCAGCCGGAACTG -3'
(R):5'- CCAAAACCAGTCTAAGGAGTAGAAAG -3'

Posted On

2013-11-18