Incidental Mutation 'R0561:Tjp3'
| ID |
45886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp3
|
| Ensembl Gene |
ENSMUSG00000034917 |
| Gene Name |
tight junction protein 3 |
| Synonyms |
ZO-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81109674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 843
(G843D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000057798]
[ENSMUST00000219479]
[ENSMUST00000219460]
[ENSMUST00000220297]
[ENSMUST00000218742]
[ENSMUST00000219304]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045744
AA Change: G843D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: G843D
| 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 |
noncoding transcript
Transcript: ENSMUST00000175040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218520
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219479
AA Change: G843D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219460
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218742
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219294
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,335,204 (GRCm39) |
D30G |
possibly damaging |
Het |
| Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
| Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
| Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
| Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
| Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
| Ercc3 |
A |
G |
18: 32,378,592 (GRCm39) |
D191G |
possibly damaging |
Het |
| Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
| Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
| Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
| Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,298,301 (GRCm39) |
V535A |
possibly damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
| Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
| Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,834,876 (GRCm39) |
V17A |
probably benign |
Het |
| Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
| Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,541,668 (GRCm39) |
|
probably null |
Het |
| Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
| Slx4ip |
A |
G |
2: 136,908,090 (GRCm39) |
E79G |
probably null |
Het |
| Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
| Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
| Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
| Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
| Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
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 |
|
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 |
|
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'- GTGGGTTGGGACTTGAAACTCCTTC -3'
(R):5'- ACAGTCGGACCAACAGCGACTATG -3'
Sequencing Primer
(F):5'- GTTGGGACTTGAAACTCCTTCATATC -3'
(R):5'- GCGACTATGAGGACACCGAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation