Incidental Mutation 'R8240:Tjp3'
| ID |
640916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp3
|
| Ensembl Gene |
ENSMUSG00000034917 |
| Gene Name |
tight junction protein 3 |
| Synonyms |
ZO-3 |
| MMRRC Submission |
067671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8240 (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 81109641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 854
(T854I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000057798]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045744
AA Change: T854I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: T854I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610524H06Rik |
A |
T |
5: 114,961,472 (GRCm39) |
V12E |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,741,082 (GRCm39) |
F997L |
probably benign |
Het |
| Baiap3 |
A |
T |
17: 25,464,288 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,614,650 (GRCm39) |
I446T |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,728,902 (GRCm39) |
M1T |
probably null |
Het |
| Clca4a |
T |
C |
3: 144,676,488 (GRCm39) |
Y64C |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,213,457 (GRCm39) |
Q1354L |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,660 (GRCm39) |
V171A |
probably damaging |
Het |
| Cyp3a44 |
G |
A |
5: 145,725,257 (GRCm39) |
L315F |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,874,485 (GRCm39) |
D1379V |
probably benign |
Het |
| Gstm6 |
T |
A |
3: 107,849,453 (GRCm39) |
D119V |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hibch |
T |
A |
1: 52,940,494 (GRCm39) |
|
probably null |
Het |
| Il1rap |
G |
A |
16: 26,520,001 (GRCm39) |
E356K |
probably benign |
Het |
| Itm2c |
G |
T |
1: 85,822,457 (GRCm39) |
G25C |
probably benign |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mcee |
A |
G |
7: 64,061,665 (GRCm39) |
H156R |
possibly damaging |
Het |
| Myh3 |
C |
A |
11: 66,983,196 (GRCm39) |
Q908K |
probably benign |
Het |
| Ncoa7 |
A |
G |
10: 30,567,725 (GRCm39) |
S318P |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,402,487 (GRCm39) |
N1208D |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,766 (GRCm39) |
I204K |
possibly damaging |
Het |
| Or4a15 |
C |
T |
2: 89,192,896 (GRCm39) |
M292I |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,793,096 (GRCm39) |
P140S |
probably damaging |
Het |
| Plcd4 |
C |
G |
1: 74,593,660 (GRCm39) |
H262D |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,140 (GRCm39) |
V85A |
probably damaging |
Het |
| Prss27 |
G |
A |
17: 24,263,919 (GRCm39) |
V202I |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Slc43a1 |
A |
G |
2: 84,690,167 (GRCm39) |
H491R |
possibly damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,253,481 (GRCm39) |
D83G |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,580,889 (GRCm39) |
V486A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,460,436 (GRCm39) |
Q3408L |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,388 (GRCm39) |
D1854G |
probably benign |
Het |
| Tmsb10b |
A |
C |
7: 24,561,805 (GRCm39) |
I35L |
probably benign |
Het |
| Trim30a |
C |
T |
7: 104,070,663 (GRCm39) |
G250D |
probably benign |
Het |
| Ttll1 |
G |
T |
15: 83,376,783 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,246,350 (GRCm39) |
N300I |
probably damaging |
Het |
| Zfp458 |
C |
T |
13: 67,406,190 (GRCm39) |
C83Y |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,798,188 (GRCm39) |
|
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 |
|
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'- TCAACCATGTGGAGTGTGGAG -3'
(R):5'- ACAGCGACTATGAGGACACC -3'
Sequencing Primer
(F):5'- AAGCTCTCAGGCCTGCATC -3'
(R):5'- ACTATGAGGACACCGACGGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation