Incidental Mutation 'R6245:Tjp3'
| ID |
505538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp3
|
| Ensembl Gene |
ENSMUSG00000034917 |
| Gene Name |
tight junction protein 3 |
| Synonyms |
ZO-3 |
| MMRRC Submission |
044403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81113110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 580
(T580I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000057798]
[ENSMUST00000218484]
[ENSMUST00000219479]
[ENSMUST00000220297]
[ENSMUST00000219460]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045744
AA Change: T580I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: T580I
| 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: ENSMUST00000218146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219294
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219479
AA Change: T580I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219460
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,026,249 (GRCm39) |
I937T |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,836,403 (GRCm39) |
N720K |
probably benign |
Het |
| Akr1c21 |
T |
G |
13: 4,625,231 (GRCm39) |
V54G |
possibly damaging |
Het |
| Alpi |
G |
T |
1: 87,028,556 (GRCm39) |
D111E |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,253,516 (GRCm39) |
T219M |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,373,797 (GRCm39) |
E780V |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,846,864 (GRCm39) |
S244P |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,388,235 (GRCm39) |
W737R |
probably damaging |
Het |
| Chdh |
T |
A |
14: 29,757,262 (GRCm39) |
V395D |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,845,665 (GRCm39) |
D366Y |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,207,902 (GRCm39) |
Y218H |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,770,051 (GRCm39) |
N264I |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,894 (GRCm39) |
L847P |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,428,545 (GRCm39) |
T382P |
possibly damaging |
Het |
| Dcaf8 |
A |
T |
1: 171,993,434 (GRCm39) |
M1L |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,734,994 (GRCm39) |
F52I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,845,864 (GRCm39) |
N32S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,675,834 (GRCm39) |
Y1542F |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,240,063 (GRCm39) |
S852N |
possibly damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,095,828 (GRCm39) |
L552Q |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,563,245 (GRCm39) |
M421V |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,832,043 (GRCm39) |
H36P |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,325,042 (GRCm39) |
|
probably null |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Intu |
C |
A |
3: 40,629,756 (GRCm39) |
T362K |
probably damaging |
Het |
| Jaml |
C |
T |
9: 45,009,217 (GRCm39) |
T248I |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,163 (GRCm39) |
S176C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,704 (GRCm39) |
L140P |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,351,891 (GRCm39) |
K957R |
probably damaging |
Het |
| Klc4 |
T |
A |
17: 46,947,605 (GRCm39) |
I366F |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,398 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,449 (GRCm39) |
D151G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,017,821 (GRCm39) |
A689E |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Msmp |
T |
C |
4: 43,583,909 (GRCm39) |
Y48C |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,086 (GRCm39) |
N567S |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,342,653 (GRCm39) |
Y748H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,368,307 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or2p2 |
T |
A |
13: 21,256,860 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,404,992 (GRCm39) |
F176I |
possibly damaging |
Het |
| Or5w15 |
G |
C |
2: 87,568,240 (GRCm39) |
Q143E |
possibly damaging |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,222 (GRCm39) |
D633E |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,207 (GRCm39) |
V734M |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,141,374 (GRCm39) |
Y21H |
unknown |
Het |
| Ptk2b |
G |
T |
14: 66,400,515 (GRCm39) |
P767T |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,051,989 (GRCm39) |
Y1424H |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,534,043 (GRCm39) |
Q118L |
probably benign |
Het |
| Selenop |
A |
G |
15: 3,304,216 (GRCm39) |
S21G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,001,677 (GRCm39) |
S1132N |
unknown |
Het |
| Slf1 |
A |
G |
13: 77,232,502 (GRCm39) |
L534P |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,013 (GRCm39) |
H596L |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,850,901 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,967 (GRCm39) |
I59N |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,603 (GRCm39) |
T51M |
possibly damaging |
Het |
| Tmem8b |
G |
A |
4: 43,690,246 (GRCm39) |
V894I |
probably benign |
Het |
| Trbv20 |
A |
T |
6: 41,165,840 (GRCm39) |
L88F |
possibly damaging |
Het |
| Tssk2 |
A |
C |
16: 17,716,812 (GRCm39) |
I72L |
possibly damaging |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,829 (GRCm39) |
F434I |
possibly damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,195,733 (GRCm39) |
N471S |
probably damaging |
Het |
| Vmn2r94 |
C |
G |
17: 18,478,385 (GRCm39) |
G121R |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,055,505 (GRCm39) |
S245P |
probably damaging |
Het |
| Zbtb42 |
A |
G |
12: 112,645,969 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,592 (GRCm39) |
V657A |
possibly damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,263 (GRCm39) |
C288* |
probably null |
Het |
| Zfp988 |
T |
A |
4: 147,416,470 (GRCm39) |
C301* |
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 |
|
|
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'- ATCTGTGTAGACTGAGAGACCC -3'
(R):5'- AGATCAGGTCCTGACTGGTTTG -3'
Sequencing Primer
(F):5'- CTGGAACTCTCTAGATCAGGCTG -3'
(R):5'- TTTGGGGCCAGTCCTGACTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation