Incidental Mutation 'R8137:Tjp3'
ID |
632311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tjp3
|
Ensembl Gene |
ENSMUSG00000034917 |
Gene Name |
tight junction protein 3 |
Synonyms |
ZO-3 |
MMRRC Submission |
067565-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8137 (G1)
|
Quality Score |
211.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81109525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 857
(D857G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000057798]
[ENSMUST00000218742]
[ENSMUST00000219304]
[ENSMUST00000219460]
[ENSMUST00000219479]
[ENSMUST00000220297]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045744
AA Change: D857G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000036438 Gene: ENSMUSG00000034917 AA Change: D857G
Domain | Start | End | E-Value | Type |
PDZ
|
20 |
93 |
2.81e-18 |
SMART |
low complexity region
|
119 |
162 |
N/A |
INTRINSIC |
PDZ
|
196 |
264 |
2.71e-11 |
SMART |
low complexity region
|
297 |
305 |
N/A |
INTRINSIC |
PDZ
|
378 |
451 |
4.97e-19 |
SMART |
SH3
|
466 |
539 |
9.96e-2 |
SMART |
low complexity region
|
548 |
559 |
N/A |
INTRINSIC |
GuKc
|
570 |
756 |
6.9e-46 |
SMART |
Blast:GuKc
|
767 |
898 |
9e-27 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057798
|
SMART Domains |
Protein: ENSMUSP00000050995 Gene: ENSMUSG00000004931
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
14 |
N/A |
INTRINSIC |
low complexity region
|
98 |
120 |
N/A |
INTRINSIC |
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
PTB
|
213 |
359 |
3.03e-40 |
SMART |
PDZ
|
400 |
478 |
3.74e-14 |
SMART |
PDZ
|
492 |
557 |
9.58e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218297
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218742
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219304
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219460
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219479
AA Change: D857G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220297
|
Meta Mutation Damage Score |
0.1103 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.8%
- 20x: 96.4%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012] PHENOTYPE: Homozygous mutation of this gene results in viable and fertile mice with no abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankfn1 |
T |
G |
11: 89,344,003 (GRCm39) |
Q326H |
probably benign |
Het |
Carf |
G |
A |
1: 60,187,124 (GRCm39) |
V576I |
probably benign |
Het |
Ccnl1 |
C |
T |
3: 65,865,291 (GRCm39) |
D87N |
possibly damaging |
Het |
Cgref1 |
T |
A |
5: 31,091,749 (GRCm39) |
D111V |
possibly damaging |
Het |
Cnot4 |
G |
A |
6: 35,023,222 (GRCm39) |
P567S |
unknown |
Het |
Cyp7b1 |
A |
T |
3: 18,151,765 (GRCm39) |
D149E |
probably benign |
Het |
Dcc |
A |
T |
18: 71,511,783 (GRCm39) |
D877E |
probably benign |
Het |
Dhx8 |
T |
A |
11: 101,654,808 (GRCm39) |
I1032N |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,272,913 (GRCm39) |
Y2347C |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,041 (GRCm39) |
S63P |
possibly damaging |
Het |
Dyrk2 |
C |
T |
10: 118,695,789 (GRCm39) |
E490K |
probably benign |
Het |
Fcgbp |
A |
C |
7: 27,804,496 (GRCm39) |
Y1868S |
probably damaging |
Het |
Foxa2 |
T |
C |
2: 147,885,768 (GRCm39) |
H355R |
probably benign |
Het |
Fpr-rs7 |
A |
G |
17: 20,334,055 (GRCm39) |
V145A |
possibly damaging |
Het |
Gm14137 |
A |
T |
2: 119,005,837 (GRCm39) |
E132V |
probably benign |
Het |
Gpn2 |
T |
C |
4: 133,315,873 (GRCm39) |
S211P |
possibly damaging |
Het |
Greb1l |
A |
T |
18: 10,474,357 (GRCm39) |
Q224L |
possibly damaging |
Het |
Gspt1 |
A |
G |
16: 11,058,532 (GRCm39) |
V144A |
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,589,188 (GRCm39) |
I81T |
possibly damaging |
Het |
Il27ra |
T |
A |
8: 84,767,720 (GRCm39) |
|
probably null |
Het |
Kif21a |
T |
C |
15: 90,852,645 (GRCm39) |
T862A |
probably benign |
Het |
Klf2 |
T |
C |
8: 73,074,088 (GRCm39) |
|
probably null |
Het |
Kmt2e |
A |
G |
5: 23,706,952 (GRCm39) |
Y1505C |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,499,076 (GRCm39) |
T216A |
|
Het |
Muc16 |
T |
C |
9: 18,556,972 (GRCm39) |
E3107G |
unknown |
Het |
Ncor2 |
C |
T |
5: 125,114,957 (GRCm39) |
V169I |
|
Het |
Oas3 |
T |
C |
5: 120,915,565 (GRCm39) |
Q42R |
probably benign |
Het |
Or2l5 |
A |
G |
16: 19,333,846 (GRCm39) |
V180A |
possibly damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,013 (GRCm39) |
*309W |
probably null |
Het |
Pde10a |
A |
G |
17: 9,193,647 (GRCm39) |
Y693C |
possibly damaging |
Het |
Pde11a |
T |
C |
2: 76,041,383 (GRCm39) |
E429G |
possibly damaging |
Het |
Pramel23 |
A |
G |
4: 143,425,835 (GRCm39) |
F36S |
probably damaging |
Het |
Pygo1 |
A |
G |
9: 72,852,140 (GRCm39) |
H109R |
probably damaging |
Het |
Rbsn |
A |
T |
6: 92,167,003 (GRCm39) |
V547D |
probably benign |
Het |
Ros1 |
A |
G |
10: 52,001,933 (GRCm39) |
I1084T |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,796,378 (GRCm39) |
D1801G |
probably benign |
Het |
Slco4c1 |
C |
T |
1: 96,748,970 (GRCm39) |
G649E |
probably damaging |
Het |
Spmip10 |
A |
G |
18: 56,727,653 (GRCm39) |
D117G |
probably damaging |
Het |
Sptbn2 |
A |
T |
19: 4,787,431 (GRCm39) |
I914F |
possibly damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Strc |
C |
T |
2: 121,197,219 (GRCm39) |
G1503R |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,225,171 (GRCm39) |
Y46F |
probably damaging |
Het |
Tctn3 |
A |
T |
19: 40,593,785 (GRCm39) |
W462R |
probably damaging |
Het |
Tor1aip2 |
C |
T |
1: 155,939,414 (GRCm39) |
T242I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
Vezt |
T |
C |
10: 93,775,154 (GRCm39) |
N94D |
|
Het |
Vmn2r105 |
T |
C |
17: 20,454,966 (GRCm39) |
N57D |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,212,011 (GRCm39) |
D353G |
|
Het |
Ykt6 |
T |
C |
11: 5,909,368 (GRCm39) |
V59A |
probably damaging |
Het |
Ypel3 |
T |
G |
7: 126,377,269 (GRCm39) |
V54G |
possibly damaging |
Het |
Zfp386 |
T |
A |
12: 116,023,268 (GRCm39) |
C329S |
possibly damaging |
Het |
Zfp451 |
A |
T |
1: 33,821,156 (GRCm39) |
L232H |
possibly damaging |
Het |
Zfp648 |
A |
G |
1: 154,081,110 (GRCm39) |
H423R |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,740,861 (GRCm39) |
Y468C |
probably damaging |
Het |
|
Other mutations in Tjp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01067:Tjp3
|
APN |
10 |
81,109,699 (GRCm39) |
missense |
probably benign |
|
IGL01739:Tjp3
|
APN |
10 |
81,114,490 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02826:Tjp3
|
APN |
10 |
81,109,523 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03145:Tjp3
|
APN |
10 |
81,119,522 (GRCm39) |
missense |
probably benign |
0.05 |
PIT4480001:Tjp3
|
UTSW |
10 |
81,115,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R0561:Tjp3
|
UTSW |
10 |
81,109,674 (GRCm39) |
missense |
probably benign |
|
R0562:Tjp3
|
UTSW |
10 |
81,116,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R1099:Tjp3
|
UTSW |
10 |
81,109,657 (GRCm39) |
missense |
probably benign |
|
R1618:Tjp3
|
UTSW |
10 |
81,112,094 (GRCm39) |
unclassified |
probably benign |
|
R1786:Tjp3
|
UTSW |
10 |
81,113,888 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1955:Tjp3
|
UTSW |
10 |
81,113,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Tjp3
|
UTSW |
10 |
81,116,378 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2130:Tjp3
|
UTSW |
10 |
81,113,888 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2131:Tjp3
|
UTSW |
10 |
81,113,888 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2132:Tjp3
|
UTSW |
10 |
81,113,888 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2133:Tjp3
|
UTSW |
10 |
81,113,888 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2178:Tjp3
|
UTSW |
10 |
81,115,941 (GRCm39) |
missense |
probably benign |
0.17 |
R3054:Tjp3
|
UTSW |
10 |
81,116,341 (GRCm39) |
missense |
probably benign |
0.13 |
R3055:Tjp3
|
UTSW |
10 |
81,116,341 (GRCm39) |
missense |
probably benign |
0.13 |
R5470:Tjp3
|
UTSW |
10 |
81,115,381 (GRCm39) |
missense |
probably benign |
0.04 |
R5645:Tjp3
|
UTSW |
10 |
81,114,454 (GRCm39) |
splice site |
probably null |
|
R5918:Tjp3
|
UTSW |
10 |
81,113,746 (GRCm39) |
missense |
probably benign |
0.01 |
R6108:Tjp3
|
UTSW |
10 |
81,116,980 (GRCm39) |
missense |
probably benign |
|
R6245:Tjp3
|
UTSW |
10 |
81,113,110 (GRCm39) |
missense |
probably benign |
0.02 |
R6300:Tjp3
|
UTSW |
10 |
81,116,951 (GRCm39) |
nonsense |
probably null |
|
R7686:Tjp3
|
UTSW |
10 |
81,113,885 (GRCm39) |
missense |
probably benign |
0.00 |
R7958:Tjp3
|
UTSW |
10 |
81,118,828 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8240:Tjp3
|
UTSW |
10 |
81,109,641 (GRCm39) |
missense |
probably benign |
0.06 |
R8317:Tjp3
|
UTSW |
10 |
81,116,324 (GRCm39) |
missense |
probably benign |
0.11 |
R9226:Tjp3
|
UTSW |
10 |
81,110,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R9548:Tjp3
|
UTSW |
10 |
81,113,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Tjp3
|
UTSW |
10 |
81,119,411 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9611:Tjp3
|
UTSW |
10 |
81,119,411 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9682:Tjp3
|
UTSW |
10 |
81,109,645 (GRCm39) |
missense |
probably benign |
0.09 |
R9790:Tjp3
|
UTSW |
10 |
81,109,694 (GRCm39) |
missense |
probably benign |
0.00 |
R9791:Tjp3
|
UTSW |
10 |
81,109,694 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Tjp3
|
UTSW |
10 |
81,116,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGTTGGGACTTGAAACTC -3'
(R):5'- AACAGCGACTATGAGGACAC -3'
Sequencing Primer
(F):5'- GTTGGGACTTGAAACTCCTTCATATC -3'
(R):5'- CCGTATGGGTAGATGATCACC -3'
|
Posted On |
2020-06-30 |