Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Vtn'

487837

Institutional Source

Beutler Lab

Gene Symbol

Vtn

Ensembl Gene

ENSMUSG00000017344

Gene Name

vitronectin

Synonyms

MMRRC Submission

044319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78389946-78393151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78390836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 165 (D165V)

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 damaging
Transcript: ENSMUST00000017488
AA Change: D165V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344
AA Change: D165V

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: ENSMUST00000153628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146997

Meta Mutation Damage Score

0.3982

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,074,896 (GRCm39)	I306V	probably damaging	Het
Actrt3	A	T	3: 30,652,316 (GRCm39)	Y259*	probably null	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ano1	T	A	7: 144,232,478 (GRCm39)	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,469,987 (GRCm39)	D63E	possibly damaging	Het
Atp6v1c1	C	A	15: 38,674,172 (GRCm39)	S55*	probably null	Het
C1s2	T	G	6: 124,606,960 (GRCm39)	D296A	probably damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,202,186 (GRCm39)	V342M	possibly damaging	Het
Cat	T	C	2: 103,303,420 (GRCm39)	E119G	probably damaging	Het
Cavin2	G	T	1: 51,328,654 (GRCm39)	S37I	probably damaging	Het
Cdhr18	T	C	14: 13,868,002 (GRCm38)	D229G	probably benign	Het
Cdk5rap2	G	A	4: 70,199,719 (GRCm39)	R802C	probably damaging	Het
Clip1	A	G	5: 123,751,897 (GRCm39)		probably benign	Het
Dhx57	T	C	17: 80,580,395 (GRCm39)	N519S	possibly damaging	Het
Dpep2	T	C	8: 106,712,831 (GRCm39)	D260G	probably damaging	Het
Edem1	T	A	6: 108,828,159 (GRCm39)		probably null	Het
Epb41l4a	A	T	18: 33,931,868 (GRCm39)		probably null	Het
Esp1	T	C	17: 41,039,723 (GRCm39)	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,564,746 (GRCm39)	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,059,031 (GRCm39)	T497A	probably benign	Het
Gstcd	T	C	3: 132,787,834 (GRCm39)	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,310,118 (GRCm39)	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,089 (GRCm39)	L481*	probably null	Het
Ighv2-7	A	G	12: 113,771,055 (GRCm39)	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,685,614 (GRCm39)	R125L	probably benign	Het
Lrp1b	A	T	2: 41,013,748 (GRCm39)		probably null	Het
Lrp2	AC	A	2: 69,340,763 (GRCm39)		probably null	Het
Marveld2	C	T	13: 100,733,886 (GRCm39)	D250N	probably damaging	Het
Mast3	A	G	8: 71,242,662 (GRCm39)	S53P	probably damaging	Het
Ms4a20	A	G	19: 11,083,114 (GRCm39)	I102T	possibly damaging	Het
Myo3b	T	C	2: 70,143,707 (GRCm39)	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,257,009 (GRCm39)	F113I	probably damaging	Het
Obscn	A	G	11: 58,923,490 (GRCm39)	S6470P	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a73	T	C	2: 89,420,661 (GRCm39)	D266G	possibly damaging	Het
Or9g4b	C	T	2: 85,616,004 (GRCm39)	R50C	probably damaging	Het
Pdcd11	G	T	19: 47,108,722 (GRCm39)	G1246V	probably damaging	Het
Phc3	A	T	3: 30,996,714 (GRCm39)	S219T	probably damaging	Het
Plxnb1	C	T	9: 108,931,993 (GRCm39)		probably null	Het
Polh	T	C	17: 46,495,670 (GRCm39)	D276G	possibly damaging	Het
Polq	T	A	16: 36,892,071 (GRCm39)	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,771,541 (GRCm39)	R144C	probably damaging	Het
Pramel16	G	A	4: 143,675,576 (GRCm39)	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,207,001 (GRCm39)	T520P	possibly damaging	Het
Psg21	T	A	7: 18,386,279 (GRCm39)	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,520,836 (GRCm39)	S761R	probably benign	Het
Rapgef6	G	A	11: 54,510,842 (GRCm39)	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,279,658 (GRCm39)	V524I	probably benign	Het
Sde2	T	C	1: 180,685,784 (GRCm39)	V112A	probably damaging	Het
Septin7	T	C	9: 25,205,100 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,727,618 (GRCm39)	V155A	possibly damaging	Het
St7	T	C	6: 17,819,333 (GRCm39)		probably null	Het
Tmcc3	A	T	10: 94,418,249 (GRCm39)	Y339F	probably damaging	Het
Tmed6	T	C	8: 107,792,083 (GRCm39)	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,624 (GRCm39)		probably benign	Het
Trim43c	T	C	9: 88,722,600 (GRCm39)	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,945,466 (GRCm39)	D237G	probably benign	Het
Vmn1r91	T	A	7: 19,835,404 (GRCm39)	C108S	possibly damaging	Het
Wdr3	A	T	3: 100,068,468 (GRCm39)	S13R	probably damaging	Het
Zdhhc16	A	G	19: 41,926,198 (GRCm39)	Y31C	probably benign	Het
Zfp39	A	T	11: 58,781,887 (GRCm39)	W292R	probably benign	Het
Zfp612	A	T	8: 110,816,606 (GRCm39)	L604F	probably 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
R1071:Vtn	UTSW	11	78,392,602 (GRCm39)	missense	probably benign	0.00
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
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'- GTGACCTAAATCCTCGGACG -3'
(R):5'- TTGATGCGAGTGAAGGCAGC -3'

Sequencing Primer
(F):5'- TAAATCCTCGGACGGACGG -3'
(R):5'- CCCCAGACATCTTGGATAAGTTTGG -3'

Posted On

2017-10-10