Incidental Mutation 'R1634:Tjp1'
| ID |
172982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp1
|
| Ensembl Gene |
ENSMUSG00000030516 |
| Gene Name |
tight junction protein 1 |
| Synonyms |
ZO1, ZO-1 |
| MMRRC Submission |
039671-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
64945913-65177529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64952700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1545
(F1545L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032729]
[ENSMUST00000102592]
[ENSMUST00000206612]
|
| AlphaFold |
P39447 |
| PDB Structure |
Interplay between phosphatidyl-inositol-phosphates and claudins upon binding to the 1st PDZ domain of zonula occludens 1 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032729
AA Change: F1465L
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: F1465L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
PDZ
|
32 |
110 |
1.65e-15 |
SMART |
|
PDZ
|
196 |
264 |
3.92e-17 |
SMART |
|
low complexity region
|
302 |
324 |
N/A |
INTRINSIC |
|
PDZ
|
431 |
504 |
5.94e-17 |
SMART |
|
SH3
|
519 |
583 |
6.41e-2 |
SMART |
|
GuKc
|
606 |
794 |
1.28e-49 |
SMART |
|
low complexity region
|
810 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1176 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1257 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1319 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1365 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1400 |
N/A |
INTRINSIC |
|
ZU5
|
1549 |
1654 |
1.1e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102592
AA Change: F1545L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: F1545L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
PDZ
|
32 |
110 |
1.65e-15 |
SMART |
|
PDZ
|
196 |
264 |
3.92e-17 |
SMART |
|
low complexity region
|
302 |
324 |
N/A |
INTRINSIC |
|
PDZ
|
431 |
504 |
5.94e-17 |
SMART |
|
SH3
|
519 |
583 |
6.41e-2 |
SMART |
|
GuKc
|
606 |
794 |
1.28e-49 |
SMART |
|
low complexity region
|
810 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
1237 |
1256 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1388 |
1399 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1445 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1480 |
N/A |
INTRINSIC |
|
ZU5
|
1629 |
1735 |
1.84e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206612
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
| Validation Efficiency |
97% (67/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele show embryonic lethality and growth retardation, failure of embryo turning and chorioallantoic fusion, defective yolk sac angiogenesis, and increased apoptosis in the notochord, neural tube, somite and allantois. Homozygotes for a reporter allele are overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
| Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
| Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
| Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
| Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
| Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
| Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
| Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
C |
T |
2: 130,123,665 (GRCm39) |
V141I |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,393,529 (GRCm39) |
S1249P |
probably benign |
Het |
| Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
| Map3k20 |
G |
A |
2: 72,240,521 (GRCm39) |
W339* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
| Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
| Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
| Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
| Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
| Sbno2 |
C |
A |
10: 79,896,468 (GRCm39) |
A880S |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
| Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
| Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
| Spns1 |
C |
T |
7: 125,970,343 (GRCm39) |
|
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
| Topaz1 |
C |
T |
9: 122,609,740 (GRCm39) |
|
probably benign |
Het |
| Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
| Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
| Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
| Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tjp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Tjp1
|
APN |
7 |
64,950,967 (GRCm39) |
missense |
probably benign |
|
|
IGL00848:Tjp1
|
APN |
7 |
64,952,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01363:Tjp1
|
APN |
7 |
64,952,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01526:Tjp1
|
APN |
7 |
64,972,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01607:Tjp1
|
APN |
7 |
64,985,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02223:Tjp1
|
APN |
7 |
64,972,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Tjp1
|
APN |
7 |
64,962,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Tjp1
|
APN |
7 |
64,950,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02452:Tjp1
|
APN |
7 |
64,962,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Tjp1
|
APN |
7 |
64,993,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Tjp1
|
APN |
7 |
64,949,530 (GRCm39) |
nonsense |
probably null |
|
|
IGL02707:Tjp1
|
APN |
7 |
64,979,430 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02707:Tjp1
|
APN |
7 |
64,979,431 (GRCm39) |
nonsense |
probably null |
|
|
IGL02939:Tjp1
|
APN |
7 |
64,964,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Tjp1
|
APN |
7 |
64,990,182 (GRCm39) |
splice site |
probably benign |
|
|
IGL03273:Tjp1
|
APN |
7 |
64,949,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Tjp1
|
APN |
7 |
64,964,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Tjp1
|
UTSW |
7 |
64,993,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0012:Tjp1
|
UTSW |
7 |
64,979,523 (GRCm39) |
splice site |
probably benign |
|
|
R0012:Tjp1
|
UTSW |
7 |
64,979,523 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Tjp1
|
UTSW |
7 |
64,964,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0519:Tjp1
|
UTSW |
7 |
64,952,669 (GRCm39) |
missense |
probably benign |
|
|
R0653:Tjp1
|
UTSW |
7 |
64,964,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Tjp1
|
UTSW |
7 |
64,972,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Tjp1
|
UTSW |
7 |
64,952,669 (GRCm39) |
missense |
probably benign |
|
|
R1767:Tjp1
|
UTSW |
7 |
64,962,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1771:Tjp1
|
UTSW |
7 |
64,962,753 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1794:Tjp1
|
UTSW |
7 |
64,972,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Tjp1
|
UTSW |
7 |
64,969,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Tjp1
|
UTSW |
7 |
64,973,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Tjp1
|
UTSW |
7 |
64,962,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2086:Tjp1
|
UTSW |
7 |
64,962,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2310:Tjp1
|
UTSW |
7 |
64,979,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2942:Tjp1
|
UTSW |
7 |
64,967,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Tjp1
|
UTSW |
7 |
64,947,387 (GRCm39) |
nonsense |
probably null |
|
|
R4295:Tjp1
|
UTSW |
7 |
64,972,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Tjp1
|
UTSW |
7 |
64,968,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Tjp1
|
UTSW |
7 |
64,956,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Tjp1
|
UTSW |
7 |
64,972,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Tjp1
|
UTSW |
7 |
64,993,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4958:Tjp1
|
UTSW |
7 |
64,985,850 (GRCm39) |
nonsense |
probably null |
|
|
R5267:Tjp1
|
UTSW |
7 |
64,972,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Tjp1
|
UTSW |
7 |
64,963,059 (GRCm39) |
nonsense |
probably null |
|
|
R5422:Tjp1
|
UTSW |
7 |
64,952,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5514:Tjp1
|
UTSW |
7 |
65,004,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Tjp1
|
UTSW |
7 |
64,962,191 (GRCm39) |
splice site |
probably null |
|
|
R5693:Tjp1
|
UTSW |
7 |
64,992,411 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5933:Tjp1
|
UTSW |
7 |
64,952,600 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6043:Tjp1
|
UTSW |
7 |
64,973,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Tjp1
|
UTSW |
7 |
64,962,953 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6491:Tjp1
|
UTSW |
7 |
64,986,865 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6525:Tjp1
|
UTSW |
7 |
64,993,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Tjp1
|
UTSW |
7 |
64,950,825 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6917:Tjp1
|
UTSW |
7 |
64,949,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6960:Tjp1
|
UTSW |
7 |
64,952,763 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7235:Tjp1
|
UTSW |
7 |
64,968,321 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7274:Tjp1
|
UTSW |
7 |
65,177,400 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7471:Tjp1
|
UTSW |
7 |
64,964,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7475:Tjp1
|
UTSW |
7 |
64,972,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Tjp1
|
UTSW |
7 |
64,950,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8035:Tjp1
|
UTSW |
7 |
64,992,450 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8195:Tjp1
|
UTSW |
7 |
64,993,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Tjp1
|
UTSW |
7 |
64,993,544 (GRCm39) |
intron |
probably benign |
|
|
R8817:Tjp1
|
UTSW |
7 |
64,952,810 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8869:Tjp1
|
UTSW |
7 |
64,986,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Tjp1
|
UTSW |
7 |
64,962,679 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9079:Tjp1
|
UTSW |
7 |
64,950,966 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9081:Tjp1
|
UTSW |
7 |
64,964,010 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9095:Tjp1
|
UTSW |
7 |
64,952,745 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9145:Tjp1
|
UTSW |
7 |
64,952,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9215:Tjp1
|
UTSW |
7 |
64,962,595 (GRCm39) |
missense |
probably benign |
|
|
R9581:Tjp1
|
UTSW |
7 |
64,949,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Tjp1
|
UTSW |
7 |
64,962,644 (GRCm39) |
missense |
probably benign |
|
|
R9738:Tjp1
|
UTSW |
7 |
64,986,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Tjp1
|
UTSW |
7 |
64,952,589 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
X0027:Tjp1
|
UTSW |
7 |
64,964,507 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Tjp1
|
UTSW |
7 |
64,993,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTATAGCTGCACATCTGTAGTCCC -3'
(R):5'- TTCTATCCGCAGAAAAGTTTCCCAGAC -3'
Sequencing Primer
(F):5'- TGTATCTTACCTCACAGGGACAG -3'
(R):5'- GACAAAGCTCCAGTTAACGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation