Incidental Mutation 'R7100:Vezt'
| ID |
550776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vezt
|
| Ensembl Gene |
ENSMUSG00000036099 |
| Gene Name |
vezatin, adherens junctions transmembrane protein |
| Synonyms |
|
| MMRRC Submission |
045192-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7100 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93797384-93871661 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93832795 bp (GRCm39)
|
| 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: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
| Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
| Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
| Cdk11b |
T |
A |
4: 155,710,050 (GRCm39) |
L17H |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,480,314 (GRCm39) |
N1391K |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
| Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
| Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
| Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
| Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
| Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
| Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
| Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
| Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
| Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
| Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
| Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
| Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 168,768,073 (GRCm39) |
D407G |
probably benign |
Het |
| Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
| Mus81 |
C |
T |
19: 5,534,239 (GRCm39) |
G360S |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
| Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
| Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
| Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,964,901 (GRCm39) |
D836E |
possibly damaging |
Het |
| Slc24a5 |
A |
C |
2: 124,922,591 (GRCm39) |
S118R |
probably damaging |
Het |
| Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
| Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
| Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
| Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
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 |
|
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 |
|
|
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'- CTTCACTAATGGACGGTGTGGAC -3'
(R):5'- TCATAGGGATGTCTCGCTGC -3'
Sequencing Primer
(F):5'- GGTGTGGACTTCTGACACAAC -3'
(R):5'- GCTGCTGTTTGCCTTCATTAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation