Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Vezt'

550776

Institutional Source

Beutler Lab

Gene Symbol

Vezt

Ensembl Gene

ENSMUSG00000036099

Gene Name

vezatin, adherens junctions transmembrane protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93939165-94035817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93996933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 205 (E205D)

Ref Sequence

ENSEMBL: ENSMUSP00000113715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047711] [ENSMUST00000118077] [ENSMUST00000118205] [ENSMUST00000119818] [ENSMUST00000123201] [ENSMUST00000141241] [ENSMUST00000150344] [ENSMUST00000150704]

AlphaFold

Q3ZK22

Predicted Effect

probably benign
Transcript: ENSMUST00000047711
AA Change: E205D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099
AA Change: E205D

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
AA Change: E205D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113983
Gene: ENSMUSG00000036099
AA Change: E205D

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
AA Change: E205D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113321
Gene: ENSMUSG00000036099
AA Change: E205D

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: E205D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099
AA Change: E205D

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: ENSMUST00000123201

SMART Domains

Protein: ENSMUSP00000114550
Gene: ENSMUSG00000036099

Domain	Start	End	E-Value	Type
low complexity region	100	117	N/A	INTRINSIC
Pfam:Vezatin	120	190	2.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141241
AA Change: E15D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123575
Gene: ENSMUSG00000036099
AA Change: E15D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150344
AA Change: E225D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122561
Gene: ENSMUSG00000036099
AA Change: E225D

Domain	Start	End	E-Value	Type
low complexity region	120	137	N/A	INTRINSIC
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150704
AA Change: E205D

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121727
Gene: ENSMUSG00000036099
AA Change: E205D

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

0.0626

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	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
R5319:Vezt	UTSW	10	93970331	missense	probably benign
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
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'- CTTCACTAATGGACGGTGTGGAC -3'
(R):5'- TCATAGGGATGTCTCGCTGC -3'

Sequencing Primer
(F):5'- GGTGTGGACTTCTGACACAAC -3'
(R):5'- GCTGCTGTTTGCCTTCATTAG -3'

Posted On

2019-05-15