Incidental Mutation 'R9548:Tjp3'
| ID |
720248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp3
|
| Ensembl Gene |
ENSMUSG00000034917 |
| Gene Name |
tight junction protein 3 |
| Synonyms |
ZO-3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81109041-81127415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81113833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 475
(E475G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045744]
[ENSMUST00000057798]
[ENSMUST00000218484]
[ENSMUST00000219479]
[ENSMUST00000220297]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045744
AA Change: E475G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917
AA Change: E475G
| 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: ENSMUST00000218966
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219479
AA Change: E475G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219958
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfy1 |
G |
A |
11: 72,641,005 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,262 (GRCm39) |
Y1340C |
probably damaging |
Het |
| Bcl2 |
C |
A |
1: 106,640,508 (GRCm39) |
A35S |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,623 (GRCm39) |
S188T |
probably benign |
Het |
| Carmil1 |
C |
A |
13: 24,460,516 (GRCm39) |
G21V |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,663,956 (GRCm39) |
V112A |
probably benign |
Het |
| Cd300lf |
T |
C |
11: 115,007,858 (GRCm39) |
E319G |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,661,832 (GRCm39) |
D587E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,040 (GRCm39) |
T239S |
possibly damaging |
Het |
| Cma2 |
A |
C |
14: 56,211,256 (GRCm39) |
I239L |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,482,854 (GRCm39) |
M733K |
probably benign |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,170 (GRCm39) |
D225G |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,890,158 (GRCm39) |
R276H |
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,141 (GRCm39) |
F88L |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,776 (GRCm39) |
N95S |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,328,025 (GRCm39) |
T2133K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
G |
A |
5: 9,490,859 (GRCm39) |
G623D |
probably damaging |
Het |
| Epn2 |
A |
T |
11: 61,436,988 (GRCm39) |
S195T |
probably benign |
Het |
| Exoc3 |
A |
T |
13: 74,330,285 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Fbxo10 |
C |
A |
4: 45,058,970 (GRCm39) |
V256L |
probably damaging |
Het |
| Fis1 |
A |
T |
5: 136,991,907 (GRCm39) |
T34S |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,161 (GRCm39) |
C118S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,891,808 (GRCm39) |
V340E |
probably damaging |
Het |
| Ifng |
C |
A |
10: 118,277,128 (GRCm39) |
H23Q |
probably benign |
Het |
| Lect2 |
C |
T |
13: 56,694,660 (GRCm39) |
E32K |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,388,733 (GRCm39) |
T3239P |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,996 (GRCm39) |
Y28F |
probably benign |
Het |
| Maml3 |
A |
T |
3: 51,763,791 (GRCm39) |
V391E |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,141 (GRCm39) |
R59H |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,070,884 (GRCm39) |
L120I |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,421,648 (GRCm39) |
H4349N |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,499,154 (GRCm39) |
P110S |
probably benign |
Het |
| Nol10 |
T |
G |
12: 17,466,144 (GRCm39) |
I513S |
possibly damaging |
Het |
| Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,641,097 (GRCm39) |
N311I |
probably damaging |
Het |
| Or4b1b |
T |
C |
2: 90,111,991 (GRCm39) |
*309W |
probably null |
Het |
| Or56b1b |
A |
T |
7: 108,164,334 (GRCm39) |
S223T |
possibly damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,416 (GRCm39) |
T213S |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,402 (GRCm39) |
Y623F |
possibly damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,289,826 (GRCm39) |
I525F |
probably benign |
Het |
| Peak1 |
G |
T |
9: 56,113,917 (GRCm39) |
Q1675K |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,290 (GRCm39) |
V278A |
probably benign |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,527 (GRCm39) |
R115C |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,574,690 (GRCm39) |
L635Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,692 (GRCm39) |
T913A |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,788,673 (GRCm39) |
I233F |
possibly damaging |
Het |
| Skint9 |
T |
G |
4: 112,276,346 (GRCm39) |
L8F |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,258,041 (GRCm39) |
N360K |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,460,865 (GRCm39) |
Y243* |
probably null |
Het |
| Slc22a19 |
C |
A |
19: 7,659,219 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
T |
C |
1: 72,671,999 (GRCm39) |
I840T |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,991,303 (GRCm39) |
K1019E |
possibly damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,700 (GRCm39) |
S83P |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,382 (GRCm39) |
H78R |
probably damaging |
Het |
| Tcstv7a |
T |
A |
13: 120,289,924 (GRCm39) |
I91F |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,644,768 (GRCm39) |
V312A |
probably benign |
Het |
| Traip |
C |
A |
9: 107,833,099 (GRCm39) |
T45N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,691 (GRCm39) |
Y25734C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 102,977,495 (GRCm39) |
V166D |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,622 (GRCm39) |
V282F |
possibly damaging |
Het |
| Vmn1r184 |
G |
A |
7: 25,966,734 (GRCm39) |
S160N |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,033,059 (GRCm39) |
D2231G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,401,323 (GRCm39) |
G4132D |
unknown |
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 |
|
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 |
|
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'- TCAGTTATTACAGCGGCCG -3'
(R):5'- GCTAGTGGGTTGAGCACAAG -3'
Sequencing Primer
(F):5'- CCCTCAGCAATGGGAATGGTG -3'
(R):5'- TTGAGCACAAGCCGAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation