Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Vezt'

384540

Institutional Source

Beutler Lab

Gene Symbol

Vezt

Ensembl Gene

ENSMUSG00000036099

Gene Name

vezatin, adherens junctions transmembrane protein

Synonyms

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4972 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

93939165-94035817 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 94000350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122561 (fasta)

Gene Model

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

AlphaFold

Q3ZK22

Predicted Effect

probably null
Transcript: ENSMUST00000047711

SMART Domains

Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099

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 null
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 null
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 null
Transcript: ENSMUST00000119818

SMART Domains

Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000132735

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 null
Transcript: ENSMUST00000150344

SMART Domains

Protein: ENSMUSP00000122561
Gene: ENSMUSG00000036099

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

Predicted Effect

probably null
Transcript: ENSMUST00000150344

SMART Domains

Protein: ENSMUSP00000122561
Gene: ENSMUSG00000036099

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154267

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770	F389L	probably damaging	Het
Dgkz	C	T	2: 91,945,702	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256		probably benign	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Zscan20	G	A	4: 128,592,359	P183S	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
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
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'- CCTAGTTGTTGAGTTGCTAAAATGC -3'
(R):5'- TGTTTTGGTGGCAAGGACAC -3'

Sequencing Primer
(F):5'- GTTGAGTTGCTAAAATGCAGAAC -3'
(R):5'- TGGCAAGGACACCGGGTTTC -3'

Posted On

2016-04-27