Mutagenetix > Incidental Mutation

Incidental Mutation 'R0722:Vtn'

218779

Institutional Source

Beutler Lab

Gene Symbol

Vtn

Ensembl Gene

ENSMUSG00000017344

Gene Name

vitronectin

Synonyms

MMRRC Submission

038904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0722 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

78389946-78393151 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 78391680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129606 (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

SMART Domains

Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.7%

Validation Efficiency

97% (63/65)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	C	11: 80,047,810 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	A	G	13: 4,247,931 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,465,931 (GRCm39)	I1053V	possibly damaging	Het
Bmper	G	T	9: 23,285,224 (GRCm39)	V258L	probably benign	Het
Brd4	T	C	17: 32,431,956 (GRCm39)	H636R	possibly damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccbe1	C	T	18: 66,217,877 (GRCm39)	C112Y	probably damaging	Het
Ccdc28b	T	A	4: 129,514,945 (GRCm39)		probably null	Het
Cd320	T	C	17: 34,065,004 (GRCm39)	S46P	possibly damaging	Het
Cfap251	T	A	5: 123,394,248 (GRCm39)	V379E	probably damaging	Het
Cfap44	G	A	16: 44,225,039 (GRCm39)	E95K	possibly damaging	Het
Clpp	T	C	17: 57,299,901 (GRCm39)	V144A	probably damaging	Het
Crtam	A	T	9: 40,903,912 (GRCm39)	C96S	probably damaging	Het
Dcst1	C	T	3: 89,261,112 (GRCm39)	R480H	probably benign	Het
Dock2	A	T	11: 34,414,970 (GRCm39)		probably benign	Het
Ermard	A	G	17: 15,242,390 (GRCm39)	T189A	probably benign	Het
Gm10840	A	G	11: 106,051,902 (GRCm39)		probably benign	Het
Gm4845	T	A	1: 141,184,598 (GRCm39)		noncoding transcript	Het
Heatr1	A	G	13: 12,420,918 (GRCm39)	E403G	probably benign	Het
Herc4	A	G	10: 63,121,844 (GRCm39)	I399V	probably null	Het
Htr1f	A	G	16: 64,746,254 (GRCm39)	I346T	probably damaging	Het
Igf2r	T	C	17: 12,934,382 (GRCm39)		probably null	Het
Jmy	G	A	13: 93,589,325 (GRCm39)	T644I	probably benign	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Krt13	T	G	11: 100,009,979 (GRCm39)	K297T	probably damaging	Het
Lrba	T	C	3: 86,513,296 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,627,978 (GRCm39)	V108A	possibly damaging	Het
Lrrc8c	T	A	5: 105,727,414 (GRCm39)	V26E	probably damaging	Het
Or10g6	A	G	9: 39,934,295 (GRCm39)	D202G	probably damaging	Het
Or5p6	A	G	7: 107,631,541 (GRCm39)	F3S	probably benign	Het
Pcna	A	G	2: 132,093,155 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,022 (GRCm39)	R348*	probably null	Het
Pikfyve	T	G	1: 65,292,682 (GRCm39)	S1378A	probably damaging	Het
Pkp2	T	C	16: 16,064,892 (GRCm39)	V472A	probably benign	Het
Pld5	A	G	1: 175,803,081 (GRCm39)	F395L	probably benign	Het
Plekhb1	A	T	7: 100,294,810 (GRCm39)	Y169N	probably damaging	Het
Polr2c	T	A	8: 95,589,265 (GRCm39)	Y186N	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prr5l	A	G	2: 101,547,819 (GRCm39)		probably benign	Het
Ptbp2	C	T	3: 119,514,570 (GRCm39)	R419Q	possibly damaging	Het
Ralgapa2	A	G	2: 146,230,451 (GRCm39)	V1038A	probably damaging	Het
Rassf2	A	G	2: 131,844,830 (GRCm39)	V204A	probably damaging	Het
Slc22a22	T	C	15: 57,119,949 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Smc5	C	A	19: 23,186,291 (GRCm39)	L1055F	probably damaging	Het
Spidr	A	G	16: 15,730,645 (GRCm39)	F620S	probably damaging	Het
Susd1	A	G	4: 59,379,749 (GRCm39)	S293P	possibly damaging	Het
Tepsin	A	G	11: 119,986,163 (GRCm39)		probably benign	Het
Vmn2r68	A	T	7: 84,870,794 (GRCm39)	L830I	possibly damaging	Het
Zfp267	C	T	3: 36,219,218 (GRCm39)	H414Y	probably benign	Het
Zfp280d	T	G	9: 72,219,383 (GRCm39)	S162A	possibly damaging	Het
Zfp608	T	G	18: 55,033,306 (GRCm39)	K409T	probably damaging	Het
Zfp738	A	T	13: 67,819,643 (GRCm39)	M116K	probably benign	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
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
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'- TGGGAGTACGAATTTCAGCAGCAAC -3'
(R):5'- TGCTATGCCTTGCCTAAGACACAC -3'

Sequencing Primer
(F):5'- CAACCCAGCCAGGAGGAG -3'
(R):5'- CTGTGTTAGGCAAAGTCCAAG -3'

Posted On

2014-08-20