Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Vezt'

323340

Institutional Source

Beutler Lab

Gene Symbol

Vezt

Ensembl Gene

ENSMUSG00000036099

Gene Name

vezatin, adherens junctions transmembrane protein

Synonyms

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4296 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

93797384-93871661 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

ACTCCTCCT to ACTCCT at 93809793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q3ZK22

Predicted Effect

probably benign
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 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

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 benign
Transcript: ENSMUST00000148450

SMART Domains

Protein: ENSMUSP00000121105
Gene: ENSMUSG00000036099

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	probably damaging	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
R1633:Vezt	UTSW	10	93,820,138 (GRCm39)	missense	probably damaging	1.00
R1757:Vezt	UTSW	10	93,806,425 (GRCm39)	missense	probably benign
R1808:Vezt	UTSW	10	93,826,026 (GRCm39)	missense	probably damaging	1.00
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'- ATGAGAGTCCTGTACTGACCG -3'
(R):5'- TAGCGCAAGTAGTGAGTACTGC -3'

Sequencing Primer
(F):5'- AGTCCTGTACTGACCGGAGGATC -3'
(R):5'- AGTACTGCTCAGAGACCTGTTG -3'

Posted On

2015-06-20