Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Vezt'

405995

Institutional Source

Beutler Lab

Gene Symbol

Vezt

Ensembl Gene

ENSMUSG00000036099

Gene Name

vezatin, adherens junctions transmembrane protein

Synonyms

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93939165-94035817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93970331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 739 (E739D)

Ref Sequence

ENSEMBL: ENSMUSP00000113715 (fasta)

Gene Model

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

AlphaFold

Q3ZK22

Predicted Effect

probably benign
Transcript: ENSMUST00000047711
AA Change: E735D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099
AA Change: E735D

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 benign
Transcript: ENSMUST00000118077

SMART Domains

Protein: ENSMUSP00000113983
Gene: ENSMUSG00000036099

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 benign
Transcript: ENSMUST00000118205

SMART Domains

Protein: ENSMUSP00000113321
Gene: ENSMUSG00000036099

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 benign
Transcript: ENSMUST00000119818
AA Change: E739D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099
AA Change: E739D

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: ENSMUST00000148450

SMART Domains

Protein: ENSMUSP00000121105
Gene: ENSMUSG00000036099

Domain	Start	End	E-Value	Type
low complexity region	47	62	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	probably benign	Het

Other mutations in Vezt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Vezt	APN	10	93996857	missense	probably damaging	1.00
IGL01655:Vezt	APN	10	93996997	missense	probably benign	0.00
IGL02014:Vezt	APN	10	93996949	missense	probably benign	0.35
IGL03072:Vezt	APN	10	93974033	missense	probably damaging	1.00
R0542:Vezt	UTSW	10	94007096	critical splice acceptor site	probably null
R1633:Vezt	UTSW	10	93984276	missense	probably damaging	1.00
R1757:Vezt	UTSW	10	93970563	missense	probably benign
R1808:Vezt	UTSW	10	93990164	missense	probably damaging	1.00
R4296:Vezt	UTSW	10	93973931	small deletion	probably benign
R4972:Vezt	UTSW	10	94000350	critical splice donor site	probably null
R5079:Vezt	UTSW	10	94020624	splice site	probably null
R5137:Vezt	UTSW	10	93970510	missense	probably benign	0.00
R5743:Vezt	UTSW	10	93997095	missense	probably benign	0.01
R6002:Vezt	UTSW	10	94000474	missense	probably damaging	1.00
R6281:Vezt	UTSW	10	93973946	missense	probably benign	0.04
R6652:Vezt	UTSW	10	93970279	missense	probably damaging	1.00
R6681:Vezt	UTSW	10	93996997	missense	probably benign	0.00
R6914:Vezt	UTSW	10	93970451	missense	probably benign
R7100:Vezt	UTSW	10	93996933	missense	probably benign	0.13
R7131:Vezt	UTSW	10	93970547	nonsense	probably null
R7743:Vezt	UTSW	10	93980424	missense	probably damaging	1.00
R8137:Vezt	UTSW	10	93939292	missense
R8393:Vezt	UTSW	10	93996842	missense	probably damaging	1.00
R9006:Vezt	UTSW	10	93974012	missense	probably benign
R9043:Vezt	UTSW	10	93984165	missense	probably damaging	0.99
R9453:Vezt	UTSW	10	93996994	nonsense	probably null
R9753:Vezt	UTSW	10	93970321	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCTTGCAGCTAGAACACTTTTG -3'
(R):5'- TGTGTGACAGCCCAACAGAG -3'

Sequencing Primer
(F):5'- TGTAAAAAGAACAATCAAGGCCATCG -3'
(R):5'- GACACCTCTGCAGACACAGG -3'

Posted On

2016-07-22