Incidental Mutation 'R9226:Tjp3'
ID |
699870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tjp3
|
Ensembl Gene |
ENSMUSG00000034917 |
Gene Name |
tight junction protein 3 |
Synonyms |
ZO-3 |
MMRRC Submission |
068960-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9226 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 81110420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 731
(F731V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000057798]
[ENSMUST00000219460]
[ENSMUST00000219479]
[ENSMUST00000220297]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045744
AA Change: F731V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036438 Gene: ENSMUSG00000034917 AA Change: F731V
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: ENSMUST00000219460
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219479
AA Change: F731V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220297
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (57/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,118,518 (GRCm39) |
M1L |
probably benign |
Het |
Adgrf4 |
C |
A |
17: 42,980,606 (GRCm39) |
A160S |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,656,426 (GRCm39) |
V243A |
possibly damaging |
Het |
Adgrl4 |
G |
T |
3: 151,198,064 (GRCm39) |
|
probably null |
Het |
Alg8 |
A |
G |
7: 97,027,423 (GRCm39) |
Y97C |
probably damaging |
Het |
Ankrd12 |
T |
A |
17: 66,292,754 (GRCm39) |
D893V |
probably damaging |
Het |
Anxa6 |
T |
A |
11: 54,885,791 (GRCm39) |
T385S |
probably benign |
Het |
Art4 |
A |
T |
6: 136,831,365 (GRCm39) |
C259S |
probably damaging |
Het |
Ccer2 |
T |
C |
7: 28,456,561 (GRCm39) |
S102P |
possibly damaging |
Het |
Cdhr3 |
A |
G |
12: 33,132,320 (GRCm39) |
F101S |
probably damaging |
Het |
Ctdsp1 |
G |
T |
1: 74,434,735 (GRCm39) |
G260W |
probably damaging |
Het |
Cyp24a1 |
T |
C |
2: 170,338,277 (GRCm39) |
Y89C |
probably damaging |
Het |
Cyp2d34 |
T |
C |
15: 82,504,901 (GRCm39) |
D53G |
probably damaging |
Het |
Dnah7a |
A |
C |
1: 53,560,326 (GRCm39) |
I2115S |
possibly damaging |
Het |
Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
Gm4353 |
A |
G |
7: 115,683,006 (GRCm39) |
F192L |
probably damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Ift140 |
T |
C |
17: 25,317,839 (GRCm39) |
V1441A |
probably benign |
Het |
Ighv1-49 |
A |
T |
12: 115,019,073 (GRCm39) |
C41S |
probably damaging |
Het |
Lgalsl |
A |
T |
11: 20,779,306 (GRCm39) |
I113N |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,401,460 (GRCm39) |
D398G |
|
Het |
Lrrc4b |
A |
G |
7: 44,112,099 (GRCm39) |
H657R |
possibly damaging |
Het |
Map2k2 |
T |
C |
10: 80,955,193 (GRCm39) |
V228A |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,694,612 (GRCm39) |
I1112V |
probably benign |
Het |
Mipep |
T |
A |
14: 61,068,692 (GRCm39) |
M488K |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,750,924 (GRCm39) |
T565A |
|
Het |
Nfat5 |
T |
C |
8: 108,095,401 (GRCm39) |
L1214P |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,885,328 (GRCm39) |
T223A |
probably benign |
Het |
Or10s1 |
A |
G |
9: 39,986,187 (GRCm39) |
I199V |
probably benign |
Het |
Or52s19 |
A |
G |
7: 103,008,092 (GRCm39) |
M103T |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,499,709 (GRCm39) |
R939W |
probably damaging |
Het |
Pla2g4c |
T |
C |
7: 13,059,671 (GRCm39) |
C3R |
possibly damaging |
Het |
Plxnd1 |
A |
T |
6: 115,934,524 (GRCm39) |
I1803N |
probably damaging |
Het |
Pygb |
C |
A |
2: 150,662,781 (GRCm39) |
H583N |
possibly damaging |
Het |
Rbm20 |
A |
G |
19: 53,839,645 (GRCm39) |
D878G |
possibly damaging |
Het |
Rdx |
C |
A |
9: 51,992,468 (GRCm39) |
Q414K |
probably benign |
Het |
Scara3 |
T |
C |
14: 66,169,233 (GRCm39) |
E128G |
possibly damaging |
Het |
Sel1l2 |
T |
C |
2: 140,097,222 (GRCm39) |
Y361C |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,442,860 (GRCm39) |
I179T |
probably benign |
Het |
Sgsm2 |
C |
T |
11: 74,748,960 (GRCm39) |
V567M |
possibly damaging |
Het |
Sirt4 |
G |
A |
5: 115,618,372 (GRCm39) |
T234M |
probably damaging |
Het |
Stab1 |
T |
G |
14: 30,867,812 (GRCm39) |
K1653Q |
probably benign |
Het |
Strn4 |
T |
C |
7: 16,559,722 (GRCm39) |
|
probably benign |
Het |
Stxbp5l |
C |
A |
16: 37,076,206 (GRCm39) |
S280I |
probably damaging |
Het |
Tex30 |
G |
A |
1: 44,126,133 (GRCm39) |
R199W |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tmco3 |
A |
G |
8: 13,360,143 (GRCm39) |
|
probably null |
Het |
Tmem94 |
C |
A |
11: 115,683,191 (GRCm39) |
A658E |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,904,766 (GRCm39) |
L1177Q |
probably damaging |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Upf2 |
T |
A |
2: 6,051,845 (GRCm39) |
V1169D |
unknown |
Het |
Usp20 |
C |
A |
2: 30,907,412 (GRCm39) |
A648D |
probably damaging |
Het |
Vmn2r108 |
T |
G |
17: 20,691,330 (GRCm39) |
N398H |
probably benign |
Het |
Whamm |
A |
T |
7: 81,243,655 (GRCm39) |
S626C |
probably damaging |
Het |
Zbtb44 |
A |
G |
9: 30,975,524 (GRCm39) |
S385G |
possibly damaging |
Het |
Zfp580 |
C |
T |
7: 5,056,137 (GRCm39) |
Q166* |
probably null |
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 |
R8137:Tjp3
|
UTSW |
10 |
81,109,525 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- GCCTGCTGTTGCTGTATTAC -3'
(R):5'- GTTACCACAGACACTCCGTC -3'
Sequencing Primer
(F):5'- GTATTACAGCCTTGACTTCCTGG -3'
(R):5'- GTCTGTCTTAGGATAAGCACGCAC -3'
|
Posted On |
2022-02-07 |