Incidental Mutation 'R6108:Tjp3'
| ID |
485616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp3
|
| Ensembl Gene |
ENSMUSG00000034917 |
| Gene Name |
tight junction protein 3 |
| Synonyms |
ZO-3 |
| MMRRC Submission |
044258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81116980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 183
(R183K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000218484]
[ENSMUST00000219479]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045744
AA Change: R183K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: R183K
| 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: ENSMUST00000218484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219479
AA Change: R183K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219958
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,539,814 (GRCm39) |
F5702L |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,986 (GRCm39) |
Q117* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,362,214 (GRCm39) |
M186K |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,481,365 (GRCm39) |
L249Q |
probably damaging |
Het |
| Caprin1 |
C |
T |
2: 103,606,362 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ccdc136 |
C |
A |
6: 29,412,449 (GRCm39) |
H334Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,911,389 (GRCm39) |
N568S |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,394,210 (GRCm39) |
F515L |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,500,230 (GRCm39) |
V29E |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,457,048 (GRCm39) |
L1956P |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,256,106 (GRCm39) |
K176R |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,496,004 (GRCm39) |
I3151N |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,304 (GRCm39) |
D792E |
probably benign |
Het |
| Fam167b |
A |
T |
4: 129,472,101 (GRCm39) |
L23* |
probably null |
Het |
| Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,285,930 (GRCm39) |
I140V |
possibly damaging |
Het |
| Gna14 |
A |
G |
19: 16,580,707 (GRCm39) |
T182A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,978 (GRCm39) |
V3738A |
possibly damaging |
Het |
| Hspa4 |
C |
T |
11: 53,152,539 (GRCm39) |
G810D |
probably damaging |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,308 (GRCm39) |
I154T |
probably damaging |
Het |
| Il1rap |
G |
A |
16: 26,541,457 (GRCm39) |
S566N |
probably damaging |
Het |
| Kcnb1 |
G |
A |
2: 166,947,060 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnn1 |
A |
C |
8: 71,307,800 (GRCm39) |
S81A |
probably benign |
Het |
| Lmod1 |
G |
A |
1: 135,291,849 (GRCm39) |
G235R |
probably benign |
Het |
| Mei1 |
A |
T |
15: 81,959,389 (GRCm39) |
R185S |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,952,960 (GRCm39) |
V414M |
possibly damaging |
Het |
| Mon2 |
C |
A |
10: 122,868,600 (GRCm39) |
M484I |
probably benign |
Het |
| Nae1 |
A |
T |
8: 105,254,034 (GRCm39) |
D99E |
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,453,142 (GRCm39) |
I619N |
probably damaging |
Het |
| Nudt12 |
C |
A |
17: 59,314,744 (GRCm39) |
R280L |
probably damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,778 (GRCm39) |
V175A |
possibly damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,596 (GRCm39) |
I245N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,940,058 (GRCm39) |
Y217F |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,399 (GRCm39) |
I208F |
possibly damaging |
Het |
| Ptges3-ps |
C |
T |
6: 85,821,537 (GRCm39) |
|
noncoding transcript |
Het |
| Ptprf |
A |
G |
4: 118,080,453 (GRCm39) |
L1267P |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,045,658 (GRCm39) |
S2143C |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,393 (GRCm39) |
D1764G |
probably damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,458 (GRCm39) |
L288Q |
probably damaging |
Het |
| Slc6a20b |
T |
G |
9: 123,425,251 (GRCm39) |
M539L |
probably benign |
Het |
| Slfnl1 |
A |
G |
4: 120,390,558 (GRCm39) |
T70A |
probably benign |
Het |
| Smtn |
C |
A |
11: 3,479,608 (GRCm39) |
L486F |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,781,420 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
A |
6: 42,192,691 (GRCm39) |
L144I |
possibly damaging |
Het |
| Tnip3 |
A |
G |
6: 65,502,395 (GRCm39) |
|
probably null |
Het |
| Tspan12 |
T |
A |
6: 21,772,770 (GRCm39) |
M212L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,708,385 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,545 (GRCm39) |
M48V |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,667 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,058,950 (GRCm39) |
T348A |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,480 (GRCm39) |
L333F |
possibly 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 |
|
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 |
|
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'- TCAGCTAGGAGGCCAAGATC -3'
(R):5'- TCTCAGACCAGGAAGAAGCTGAC -3'
Sequencing Primer
(F):5'- CCAAGATCATTCAAGCTGGCTTTG -3'
(R):5'- TATGAGGGGGACTCCTCCAGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation