Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Vezt'

172928

Institutional Source

Beutler Lab

Gene Symbol

Vezt

Ensembl Gene

ENSMUSG00000036099

Gene Name

vezatin, adherens junctions transmembrane protein

Synonyms

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1633 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93797384-93871661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93820138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 409 (Q409L)

Ref Sequence

ENSEMBL: ENSMUSP00000113715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047711] [ENSMUST00000118077] [ENSMUST00000118205] [ENSMUST00000119818] [ENSMUST00000141241] [ENSMUST00000150704]

AlphaFold

Q3ZK22

Predicted Effect

probably damaging
Transcript: ENSMUST00000047711
AA Change: Q405L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099
AA Change: Q405L

Domain	Start	End	E-Value	Type
low complexity region	100	117	N/A	INTRINSIC
Pfam:Vezatin	149	440	1.6e-60	PFAM
low complexity region	566	581	N/A	INTRINSIC
low complexity region	702	715	N/A	INTRINSIC
low complexity region	764	779	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118077
AA Change: Q405L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113983
Gene: ENSMUSG00000036099
AA Change: Q405L

Domain	Start	End	E-Value	Type
low complexity region	100	117	N/A	INTRINSIC
Pfam:Vezatin	149	440	9.2e-61	PFAM
low complexity region	566	581	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118205
AA Change: Q405L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113321
Gene: ENSMUSG00000036099
AA Change: Q405L

Domain	Start	End	E-Value	Type
low complexity region	100	117	N/A	INTRINSIC
Pfam:Vezatin	149	440	1e-60	PFAM
low complexity region	566	581	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119818
AA Change: Q409L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099
AA Change: Q409L

Domain	Start	End	E-Value	Type
low complexity region	100	117	N/A	INTRINSIC
Pfam:Vezatin	150	442	1e-93	PFAM
low complexity region	570	585	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
low complexity region	768	783	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141241

SMART Domains

Protein: ENSMUSP00000123575
Gene: ENSMUSG00000036099

Domain	Start	End	E-Value	Type
Pfam:Vezatin	1	97	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150704

SMART Domains

Protein: ENSMUSP00000121727
Gene: ENSMUSG00000036099

Domain	Start	End	E-Value	Type
low complexity region	100	117	N/A	INTRINSIC
Pfam:Vezatin	149	256	1.7e-18	PFAM

Meta Mutation Damage Score

0.2270

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that is essential for the formation of adherens junctions. It is required for both the pre-implantation morphogenesis of a blastocyst and for the implantation process. The encoded protein is also a component of the ankle-link complex in cochlear hair cells, where it may effect resilience to sound trauma. It is also thought to be involved in dendritic spine morphogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele develop to the blastocyst stage inducing a decidual response but die at implantation. Only about half of blastocysts are able to hatch upon in vitro culture and mutant outgrowths show severe defects in intercellular adhesion and signs of cellular degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,681,592 (GRCm39)	A185V	probably benign	Het
Acsl6	T	C	11: 54,219,224 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,973,057 (GRCm39)	F580S	probably damaging	Het
Arhgef19	T	C	4: 140,965,871 (GRCm39)		probably benign	Het
Bpifb3	T	A	2: 153,764,504 (GRCm39)	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,525,114 (GRCm39)	D516E	probably damaging	Het
Ccar1	T	C	10: 62,586,793 (GRCm39)	R882G	unknown	Het
Cep162	T	C	9: 87,085,736 (GRCm39)	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,166 (GRCm39)	S231T	probably damaging	Het
Dock8	A	G	19: 25,028,927 (GRCm39)	T44A	probably benign	Het
Edrf1	T	C	7: 133,253,869 (GRCm39)	S536P	probably damaging	Het
Eif5	T	A	12: 111,506,721 (GRCm39)	N104K	probably damaging	Het
Enpp3	T	C	10: 24,671,680 (GRCm39)	Y438C	probably damaging	Het
Ess2	A	G	16: 17,727,831 (GRCm39)	V116A	probably benign	Het
Galnt4	T	C	10: 98,945,814 (GRCm39)	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,097,720 (GRCm39)	I172T	probably benign	Het
Ggt7	C	T	2: 155,344,608 (GRCm39)	G245D	probably damaging	Het
Gm5884	A	T	6: 128,623,028 (GRCm39)		noncoding transcript	Het
Herc2	G	A	7: 55,879,117 (GRCm39)	G4669R	probably null	Het
Hydin	T	A	8: 111,233,614 (GRCm39)	D1817E	probably benign	Het
Igf2r	A	C	17: 12,945,196 (GRCm39)	N359K	probably benign	Het
Itgb4	T	C	11: 115,898,586 (GRCm39)	F1722L	probably damaging	Het
Itih3	T	A	14: 30,639,355 (GRCm39)	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,017,444 (GRCm39)	C514*	probably null	Het
Mepe	G	T	5: 104,485,540 (GRCm39)	V227F	probably benign	Het
Nadk	C	T	4: 155,661,642 (GRCm39)	T56I	probably damaging	Het
Nedd4	G	A	9: 72,578,539 (GRCm39)	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,174,659 (GRCm39)	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,659,766 (GRCm39)	R27G	probably benign	Het
Noc2l	T	A	4: 156,329,750 (GRCm39)	S600T	probably benign	Het
Or1l4b	T	A	2: 37,036,983 (GRCm39)	I253N	probably damaging	Het
Or1o3	T	A	17: 37,574,553 (GRCm39)	M1L	probably benign	Het
Or2c1	A	C	16: 3,657,396 (GRCm39)	K186N	probably damaging	Het
Pax6	A	T	2: 105,522,063 (GRCm39)	E240V	probably damaging	Het
Pdilt	T	G	7: 119,087,217 (GRCm39)	T478P	probably damaging	Het
Phldb1	T	A	9: 44,629,619 (GRCm39)	I25F	probably damaging	Het
Rad50	C	T	11: 53,583,686 (GRCm39)	R365Q	probably benign	Het
Rdh10	A	G	1: 16,198,420 (GRCm39)	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,265,498 (GRCm39)	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964 (GRCm39)	V413A	possibly damaging	Het
Scn8a	A	G	15: 100,927,696 (GRCm39)	I1392V	probably benign	Het
Simc1	G	A	13: 54,673,044 (GRCm39)	G464D	probably benign	Het
Srf	A	T	17: 46,862,534 (GRCm39)	V318E	probably damaging	Het
Stab1	T	C	14: 30,872,337 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,206 (GRCm39)	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,430,986 (GRCm39)		probably benign	Het
Sult2a1	A	G	7: 13,535,351 (GRCm39)	I234T	probably benign	Het
Syne1	A	G	10: 5,299,388 (GRCm39)	F956L	probably damaging	Het
Tasor2	A	T	13: 3,631,771 (GRCm39)	I910N	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tmem63a	T	A	1: 180,776,391 (GRCm39)	V67E	probably damaging	Het
Tram2	A	T	1: 21,074,146 (GRCm39)	V264E	probably damaging	Het
Trpv5	A	T	6: 41,652,854 (GRCm39)	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,791 (GRCm39)	K385*	probably null	Het
Vmn2r79	T	C	7: 86,687,042 (GRCm39)	C808R	possibly damaging	Het
Wdfy3	A	C	5: 102,129,414 (GRCm39)	V4G	probably damaging	Het
Wdr95	A	T	5: 149,516,637 (GRCm39)	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,465,473 (GRCm39)	N1877I	probably damaging	Het
Zfp180	A	G	7: 23,804,226 (GRCm39)	D215G	probably benign	Het
Zfp442	A	T	2: 150,250,260 (GRCm39)	Y490*	probably null	Het
Zfp804b	A	G	5: 7,229,513 (GRCm39)		probably benign	Het

Other mutations in Vezt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Vezt	APN	10	93,832,719 (GRCm39)	missense	probably damaging	1.00
IGL01655:Vezt	APN	10	93,832,859 (GRCm39)	missense	probably benign	0.00
IGL02014:Vezt	APN	10	93,832,811 (GRCm39)	missense	probably benign	0.35
IGL03072:Vezt	APN	10	93,809,895 (GRCm39)	missense	probably damaging	1.00
R0542:Vezt	UTSW	10	93,842,958 (GRCm39)	critical splice acceptor site	probably null
R1757:Vezt	UTSW	10	93,806,425 (GRCm39)	missense	probably benign
R1808:Vezt	UTSW	10	93,826,026 (GRCm39)	missense	probably damaging	1.00
R4296:Vezt	UTSW	10	93,809,793 (GRCm39)	small deletion	probably benign
R4972:Vezt	UTSW	10	93,836,212 (GRCm39)	critical splice donor site	probably null
R5079:Vezt	UTSW	10	93,856,486 (GRCm39)	splice site	probably null
R5137:Vezt	UTSW	10	93,806,372 (GRCm39)	missense	probably benign	0.00
R5319:Vezt	UTSW	10	93,806,193 (GRCm39)	missense	probably benign
R5743:Vezt	UTSW	10	93,832,957 (GRCm39)	missense	probably benign	0.01
R6002:Vezt	UTSW	10	93,836,336 (GRCm39)	missense	probably damaging	1.00
R6281:Vezt	UTSW	10	93,809,808 (GRCm39)	missense	probably benign	0.04
R6652:Vezt	UTSW	10	93,806,141 (GRCm39)	missense	probably damaging	1.00
R6681:Vezt	UTSW	10	93,832,859 (GRCm39)	missense	probably benign	0.00
R6914:Vezt	UTSW	10	93,806,313 (GRCm39)	missense	probably benign
R7100:Vezt	UTSW	10	93,832,795 (GRCm39)	missense	probably benign	0.13
R7131:Vezt	UTSW	10	93,806,409 (GRCm39)	nonsense	probably null
R7743:Vezt	UTSW	10	93,816,286 (GRCm39)	missense	probably damaging	1.00
R8137:Vezt	UTSW	10	93,775,154 (GRCm39)	missense
R8393:Vezt	UTSW	10	93,832,704 (GRCm39)	missense	probably damaging	1.00
R9006:Vezt	UTSW	10	93,809,874 (GRCm39)	missense	probably benign
R9043:Vezt	UTSW	10	93,820,027 (GRCm39)	missense	probably damaging	0.99
R9453:Vezt	UTSW	10	93,832,856 (GRCm39)	nonsense	probably null
R9753:Vezt	UTSW	10	93,806,183 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCCCAAATGGACTGAGAGTGAC -3'
(R):5'- CCCAACTCACAGCTTATGACTGCG -3'

Sequencing Primer
(F):5'- ACTGAGAGTGACAGTTGCTTAC -3'
(R):5'- CACAGCTTATGACTGCGTATTTCAG -3'

Posted On

2014-04-24