Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Vezt'

49993

Institutional Source

Beutler Lab

Gene Symbol

Vezt

Ensembl Gene

ENSMUSG00000036099

Gene Name

vezatin, adherens junctions transmembrane protein

Synonyms

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93797384-93871661 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 93842958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122561 (fasta)

Gene Model

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

0.9588

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	A	12: 70,210,269 (GRCm39)	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,391,497 (GRCm39)	T124I	probably benign	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Itgb6	A	T	2: 60,435,480 (GRCm39)	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,104,640 (GRCm39)	D159G	possibly damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,314,236 (GRCm39)	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tada3	T	C	6: 113,352,175 (GRCm39)	K85E	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	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
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
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'- TCCTATGAACACAGCACTTGACAGAGA -3'
(R):5'- TTCTTGCTGGTGCTCACTCAGAAAA -3'

Sequencing Primer
(F):5'- gcgagcactgtaccacc -3'
(R):5'- CTGGTGCTCACTCAGAAAAATGTG -3'

Posted On

2013-06-12