Incidental Mutation 'R6914:Vezt'
| ID |
539238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vezt
|
| Ensembl Gene |
ENSMUSG00000036099 |
| Gene Name |
vezatin, adherens junctions transmembrane protein |
| Synonyms |
|
| MMRRC Submission |
045035-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93797384-93871661 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93806313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 699
(H699Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047711]
[ENSMUST00000118077]
[ENSMUST00000118205]
[ENSMUST00000119818]
|
| AlphaFold |
Q3ZK22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047711
AA Change: H695Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037955
Gene: ENSMUSG00000036099
AA Change: H695Q
| 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
AA Change: H699Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113715
Gene: ENSMUSG00000036099
AA Change: H699Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
A |
12: 17,061,298 (GRCm39) |
K17* |
probably null |
Het |
| Abca6 |
T |
C |
11: 110,081,064 (GRCm39) |
I1183V |
probably benign |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cblb |
G |
A |
16: 51,867,793 (GRCm39) |
E134K |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,809,929 (GRCm39) |
V193A |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,004,854 (GRCm39) |
Q405L |
unknown |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,874,534 (GRCm39) |
R687S |
possibly damaging |
Het |
| Derl3 |
A |
G |
10: 75,730,050 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
| Dnai1 |
T |
G |
4: 41,625,176 (GRCm39) |
M380R |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Gpt |
C |
A |
15: 76,581,792 (GRCm39) |
Q138K |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,757,903 (GRCm39) |
E748V |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Hecw1 |
A |
C |
13: 14,491,423 (GRCm39) |
L523R |
probably damaging |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Mccc2 |
C |
A |
13: 100,126,858 (GRCm39) |
D137Y |
probably damaging |
Het |
| Nup42 |
T |
A |
5: 24,386,082 (GRCm39) |
S205T |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,223,352 (GRCm39) |
M301L |
probably benign |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,407,011 (GRCm39) |
F1175I |
probably damaging |
Het |
| Prom2 |
T |
G |
2: 127,372,295 (GRCm39) |
I723L |
possibly damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,332,351 (GRCm39) |
I360S |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,779 (GRCm39) |
H436R |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,422,190 (GRCm39) |
Y411H |
probably damaging |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
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 |
|
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'- TCCTGCATGGTGGTAAAGGAC -3'
(R):5'- AGACCCAGTGGAATCTGTAAGTAAC -3'
Sequencing Primer
(F):5'- CATGGTGGTAAAGGACAGGGACC -3'
(R):5'- GTGGAATCTGTAAGTAACTCAGAACC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation