Incidental Mutation 'R6416:Tjp1'
| ID |
517929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tjp1
|
| Ensembl Gene |
ENSMUSG00000030516 |
| Gene Name |
tight junction protein 1 |
| Synonyms |
ZO1, ZO-1 |
| MMRRC Submission |
044558-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
65296165-65527781 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65313205 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 995
(D995N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032729]
[ENSMUST00000102592]
[ENSMUST00000206612]
|
| AlphaFold |
P39447 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032729
AA Change: D995N
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032729
Gene: ENSMUSG00000030516
AA Change: D995N
| 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 |
probably benign
Transcript: ENSMUST00000102592
AA Change: D1075N
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099652
Gene: ENSMUSG00000030516
AA Change: D1075N
| 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 |
possibly damaging
Transcript: ENSMUST00000206612
AA Change: D995N
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
C |
A |
16: 88,707,891 (GRCm38) |
R6L |
unknown |
Het |
| Anxa11 |
A |
G |
14: 25,874,270 (GRCm38) |
Q235R |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,308,239 (GRCm38) |
M1K |
probably null |
Het |
| Atl2 |
G |
A |
17: 79,850,223 (GRCm38) |
T563I |
probably benign |
Het |
| Azin1 |
A |
T |
15: 38,492,343 (GRCm38) |
S307R |
possibly damaging |
Het |
| Ccdc153 |
A |
G |
9: 44,245,780 (GRCm38) |
T118A |
probably benign |
Het |
| Chac1 |
G |
A |
2: 119,353,534 (GRCm38) |
V206I |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,877,662 (GRCm38) |
V446A |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,123,649 (GRCm38) |
F467S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,673,560 (GRCm38) |
P82L |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 61,998,681 (GRCm38) |
H1202Y |
probably benign |
Het |
| Ddx60 |
T |
A |
8: 61,977,950 (GRCm38) |
S840T |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,765,635 (GRCm38) |
N3102K |
probably benign |
Het |
| Dst |
A |
T |
1: 34,116,128 (GRCm38) |
K85M |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,718,757 (GRCm38) |
I839M |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,537,653 (GRCm38) |
M750L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,572,378 (GRCm38) |
T1965A |
probably benign |
Het |
| Ftl1 |
A |
T |
7: 45,459,210 (GRCm38) |
D41E |
probably benign |
Het |
| Garem2 |
G |
A |
5: 30,116,737 (GRCm38) |
W698* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,652,906 (GRCm38) |
Y283C |
probably damaging |
Het |
| Hars |
T |
C |
18: 36,773,590 (GRCm38) |
E109G |
possibly damaging |
Het |
| Hspb9 |
T |
C |
11: 100,714,210 (GRCm38) |
S121P |
probably damaging |
Het |
| Hus1b |
A |
T |
13: 30,947,205 (GRCm38) |
L157Q |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,946,359 (GRCm38) |
M322V |
probably benign |
Het |
| Igkv4-61 |
C |
A |
6: 69,417,154 (GRCm38) |
A31S |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,777,907 (GRCm38) |
M116L |
probably benign |
Het |
| Kif22 |
T |
C |
7: 127,028,932 (GRCm38) |
K9E |
possibly damaging |
Het |
| Krt90 |
T |
C |
15: 101,559,244 (GRCm38) |
E233G |
probably benign |
Het |
| Lipg |
T |
C |
18: 74,957,236 (GRCm38) |
M81V |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,701,456 (GRCm38) |
S850L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,082,754 (GRCm38) |
S1364T |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,185,328 (GRCm38) |
N208K |
probably benign |
Het |
| Oca2 |
G |
T |
7: 56,328,767 (GRCm38) |
R561L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 104,154,053 (GRCm38) |
L401P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,467,080 (GRCm38) |
Y291* |
probably null |
Het |
| Olfr1238 |
C |
A |
2: 89,406,522 (GRCm38) |
A186S |
possibly damaging |
Het |
| Olfr331 |
T |
C |
11: 58,502,340 (GRCm38) |
D72G |
probably damaging |
Het |
| Olfr828 |
G |
A |
9: 18,815,892 (GRCm38) |
T134M |
probably benign |
Het |
| Olfr952 |
T |
A |
9: 39,426,891 (GRCm38) |
Y60F |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,022,448 (GRCm38) |
N116D |
probably damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,012,169 (GRCm38) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,358,322 (GRCm38) |
I418V |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,618,609 (GRCm38) |
V62A |
probably benign |
Het |
| Pkib |
T |
A |
10: 57,728,138 (GRCm38) |
V46E |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,728,287 (GRCm38) |
|
probably null |
Het |
| Rbak |
G |
T |
5: 143,176,552 (GRCm38) |
Q19K |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,576,961 (GRCm38) |
T32A |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,167,873 (GRCm38) |
W835R |
probably damaging |
Het |
| Sis |
T |
G |
3: 72,911,854 (GRCm38) |
K1456N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,179,729 (GRCm38) |
N675I |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,315,627 (GRCm38) |
M139I |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,802,759 (GRCm38) |
F1182S |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,971,921 (GRCm38) |
I96N |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,822,057 (GRCm38) |
S79P |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,375,267 (GRCm38) |
V698M |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,411,139 (GRCm38) |
S150P |
probably damaging |
Het |
| Tmem135 |
T |
A |
7: 89,147,794 (GRCm38) |
T365S |
probably benign |
Het |
| Tmem174 |
T |
C |
13: 98,636,981 (GRCm38) |
T114A |
probably benign |
Het |
| Tnc |
A |
G |
4: 64,007,816 (GRCm38) |
I909T |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,241,330 (GRCm38) |
I62V |
possibly damaging |
Het |
| Tulp1 |
A |
T |
17: 28,356,031 (GRCm38) |
*487K |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,131,646 (GRCm38) |
V1826E |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,174,116 (GRCm38) |
N238K |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,637,738 (GRCm38) |
N298Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,712,902 (GRCm38) |
F246I |
probably damaging |
Het |
| Vps9d1 |
A |
C |
8: 123,248,639 (GRCm38) |
V194G |
probably damaging |
Het |
| Zfp260 |
A |
T |
7: 30,104,810 (GRCm38) |
H45L |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,593,720 (GRCm38) |
H292L |
possibly damaging |
Het |
|
| Other mutations in Tjp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Tjp1
|
APN |
7 |
65,301,219 (GRCm38) |
missense |
probably benign |
|
|
IGL00848:Tjp1
|
APN |
7 |
65,303,194 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01363:Tjp1
|
APN |
7 |
65,302,965 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01526:Tjp1
|
APN |
7 |
65,322,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01607:Tjp1
|
APN |
7 |
65,336,178 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02223:Tjp1
|
APN |
7 |
65,322,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02341:Tjp1
|
APN |
7 |
65,312,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02347:Tjp1
|
APN |
7 |
65,301,064 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02452:Tjp1
|
APN |
7 |
65,312,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02512:Tjp1
|
APN |
7 |
65,343,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02552:Tjp1
|
APN |
7 |
65,299,782 (GRCm38) |
nonsense |
probably null |
|
|
IGL02707:Tjp1
|
APN |
7 |
65,329,682 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02707:Tjp1
|
APN |
7 |
65,329,683 (GRCm38) |
nonsense |
probably null |
|
|
IGL02939:Tjp1
|
APN |
7 |
65,314,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03139:Tjp1
|
APN |
7 |
65,340,434 (GRCm38) |
splice site |
probably benign |
|
|
IGL03273:Tjp1
|
APN |
7 |
65,299,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03391:Tjp1
|
APN |
7 |
65,314,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Tjp1
|
UTSW |
7 |
65,343,614 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0012:Tjp1
|
UTSW |
7 |
65,329,775 (GRCm38) |
splice site |
probably benign |
|
|
R0012:Tjp1
|
UTSW |
7 |
65,329,775 (GRCm38) |
splice site |
probably benign |
|
|
R0390:Tjp1
|
UTSW |
7 |
65,314,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0519:Tjp1
|
UTSW |
7 |
65,302,921 (GRCm38) |
missense |
probably benign |
|
|
R0653:Tjp1
|
UTSW |
7 |
65,314,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1163:Tjp1
|
UTSW |
7 |
65,323,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1544:Tjp1
|
UTSW |
7 |
65,302,921 (GRCm38) |
missense |
probably benign |
|
|
R1634:Tjp1
|
UTSW |
7 |
65,302,952 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1767:Tjp1
|
UTSW |
7 |
65,312,553 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1771:Tjp1
|
UTSW |
7 |
65,313,005 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1794:Tjp1
|
UTSW |
7 |
65,323,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1874:Tjp1
|
UTSW |
7 |
65,319,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1971:Tjp1
|
UTSW |
7 |
65,324,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1981:Tjp1
|
UTSW |
7 |
65,312,855 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2086:Tjp1
|
UTSW |
7 |
65,312,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2310:Tjp1
|
UTSW |
7 |
65,329,742 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2942:Tjp1
|
UTSW |
7 |
65,318,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3974:Tjp1
|
UTSW |
7 |
65,297,639 (GRCm38) |
nonsense |
probably null |
|
|
R4295:Tjp1
|
UTSW |
7 |
65,323,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4296:Tjp1
|
UTSW |
7 |
65,318,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4567:Tjp1
|
UTSW |
7 |
65,306,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4574:Tjp1
|
UTSW |
7 |
65,322,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4910:Tjp1
|
UTSW |
7 |
65,343,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4958:Tjp1
|
UTSW |
7 |
65,336,102 (GRCm38) |
nonsense |
probably null |
|
|
R5267:Tjp1
|
UTSW |
7 |
65,323,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5371:Tjp1
|
UTSW |
7 |
65,313,311 (GRCm38) |
nonsense |
probably null |
|
|
R5422:Tjp1
|
UTSW |
7 |
65,302,967 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5514:Tjp1
|
UTSW |
7 |
65,354,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5652:Tjp1
|
UTSW |
7 |
65,312,443 (GRCm38) |
splice site |
probably null |
|
|
R5693:Tjp1
|
UTSW |
7 |
65,342,663 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5933:Tjp1
|
UTSW |
7 |
65,302,852 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6043:Tjp1
|
UTSW |
7 |
65,324,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6491:Tjp1
|
UTSW |
7 |
65,337,117 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6525:Tjp1
|
UTSW |
7 |
65,343,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6658:Tjp1
|
UTSW |
7 |
65,301,077 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6917:Tjp1
|
UTSW |
7 |
65,299,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6960:Tjp1
|
UTSW |
7 |
65,303,015 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R7235:Tjp1
|
UTSW |
7 |
65,318,573 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7274:Tjp1
|
UTSW |
7 |
65,527,652 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7471:Tjp1
|
UTSW |
7 |
65,314,690 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7475:Tjp1
|
UTSW |
7 |
65,322,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7479:Tjp1
|
UTSW |
7 |
65,301,180 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8035:Tjp1
|
UTSW |
7 |
65,342,702 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8195:Tjp1
|
UTSW |
7 |
65,343,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8276:Tjp1
|
UTSW |
7 |
65,343,796 (GRCm38) |
intron |
probably benign |
|
|
R8817:Tjp1
|
UTSW |
7 |
65,303,062 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8869:Tjp1
|
UTSW |
7 |
65,336,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9043:Tjp1
|
UTSW |
7 |
65,312,931 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9079:Tjp1
|
UTSW |
7 |
65,301,218 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9081:Tjp1
|
UTSW |
7 |
65,314,262 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9095:Tjp1
|
UTSW |
7 |
65,302,997 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9145:Tjp1
|
UTSW |
7 |
65,302,816 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9215:Tjp1
|
UTSW |
7 |
65,312,847 (GRCm38) |
missense |
probably benign |
|
|
R9581:Tjp1
|
UTSW |
7 |
65,299,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9665:Tjp1
|
UTSW |
7 |
65,312,896 (GRCm38) |
missense |
probably benign |
|
|
R9738:Tjp1
|
UTSW |
7 |
65,336,632 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0022:Tjp1
|
UTSW |
7 |
65,302,841 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
X0027:Tjp1
|
UTSW |
7 |
65,314,759 (GRCm38) |
missense |
probably benign |
0.18 |
|
Z1177:Tjp1
|
UTSW |
7 |
65,343,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGCTGGAAATAACCTCGTTC -3'
(R):5'- TTTTAAATGCAGGTGTACAGGAAGG -3'
Sequencing Primer
(F):5'- CGCTGGAAATAACCTCGTTCTGAAG -3'
(R):5'- TGTACAGGAAGGAGCCGTATTCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation