Incidental Mutation 'R2178:Tjp3'
ID |
237010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tjp3
|
Ensembl Gene |
ENSMUSG00000034917 |
Gene Name |
tight junction protein 3 |
Synonyms |
ZO-3 |
MMRRC Submission |
040180-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2178 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81115941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 313
(E313G)
|
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: E313G
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000036438 Gene: ENSMUSG00000034917 AA Change: E313G
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: E313G
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219958
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
A |
T |
15: 98,492,236 (GRCm39) |
N1007K |
probably damaging |
Het |
Apon |
C |
A |
10: 128,090,634 (GRCm39) |
A104E |
probably benign |
Het |
Cdh15 |
T |
A |
8: 123,591,715 (GRCm39) |
|
probably null |
Het |
Cep135 |
T |
C |
5: 76,779,297 (GRCm39) |
V769A |
probably benign |
Het |
Cep152 |
A |
T |
2: 125,421,954 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
C |
3: 144,711,863 (GRCm39) |
N711D |
probably damaging |
Het |
Col1a2 |
T |
C |
6: 4,531,143 (GRCm39) |
F731L |
unknown |
Het |
Cpt1b |
T |
C |
15: 89,303,246 (GRCm39) |
E603G |
probably damaging |
Het |
Cspp1 |
T |
G |
1: 10,174,471 (GRCm39) |
D641E |
possibly damaging |
Het |
Ddr2 |
C |
T |
1: 169,822,251 (GRCm39) |
R399Q |
probably benign |
Het |
Dzip1 |
T |
C |
14: 119,126,816 (GRCm39) |
|
probably null |
Het |
Greb1 |
A |
G |
12: 16,746,388 (GRCm39) |
V1294A |
probably damaging |
Het |
Hmgb4 |
A |
G |
4: 128,154,275 (GRCm39) |
S98P |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,085,196 (GRCm39) |
P515L |
probably benign |
Het |
Kmt5b |
A |
C |
19: 3,865,372 (GRCm39) |
E789A |
possibly damaging |
Het |
Lama1 |
G |
T |
17: 68,076,510 (GRCm39) |
V1095F |
probably benign |
Het |
Leprot |
T |
C |
4: 101,513,308 (GRCm39) |
V32A |
probably benign |
Het |
Mcoln1 |
A |
G |
8: 3,558,766 (GRCm39) |
T255A |
probably damaging |
Het |
Mertk |
G |
A |
2: 128,634,984 (GRCm39) |
E765K |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,853 (GRCm39) |
T3600A |
possibly damaging |
Het |
Ncapd3 |
A |
T |
9: 26,999,845 (GRCm39) |
E1395V |
probably benign |
Het |
Ntrk2 |
T |
C |
13: 58,956,616 (GRCm39) |
F25S |
probably benign |
Het |
Or2a5 |
A |
G |
6: 42,873,732 (GRCm39) |
M116V |
probably benign |
Het |
Or6z1 |
G |
T |
7: 6,504,487 (GRCm39) |
A246D |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,683,612 (GRCm39) |
I46F |
probably damaging |
Het |
Pappa |
C |
A |
4: 65,269,924 (GRCm39) |
H1613N |
probably benign |
Het |
Polq |
T |
C |
16: 36,883,191 (GRCm39) |
V1785A |
probably damaging |
Het |
Pramel23 |
A |
T |
4: 143,424,612 (GRCm39) |
I277K |
possibly damaging |
Het |
Prkar2a |
T |
C |
9: 108,617,737 (GRCm39) |
|
probably null |
Het |
Qrich2 |
T |
C |
11: 116,334,603 (GRCm39) |
D2194G |
probably damaging |
Het |
Rnf183 |
T |
C |
4: 62,346,333 (GRCm39) |
N155S |
probably benign |
Het |
S1pr5 |
T |
C |
9: 21,155,760 (GRCm39) |
N222S |
probably benign |
Het |
Scnn1a |
C |
T |
6: 125,307,965 (GRCm39) |
R170C |
probably damaging |
Het |
Slc25a2 |
T |
C |
18: 37,771,311 (GRCm39) |
T73A |
probably benign |
Het |
Tgfb1 |
A |
G |
7: 25,404,234 (GRCm39) |
N347S |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,315,433 (GRCm39) |
V229A |
probably benign |
Het |
Tnfsf11 |
A |
G |
14: 78,521,682 (GRCm39) |
S176P |
probably benign |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Vps39 |
C |
A |
2: 120,154,160 (GRCm39) |
E612* |
probably null |
Het |
Vwf |
T |
A |
6: 125,619,095 (GRCm39) |
Y1258N |
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 |
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'- TGAATTCACTGACCGTTCCC -3'
(R):5'- TTCTGTGAGATTCGGAGGACCC -3'
Sequencing Primer
(F):5'- ACTGACCGTTCCCGCCTC -3'
(R):5'- AGATTCGGAGGACCCCTAGCTC -3'
|
Posted On |
2014-10-02 |