Incidental Mutation 'IGL02078:Cldn23'
ID |
186041 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cldn23
|
Ensembl Gene |
ENSMUSG00000055976 |
Gene Name |
claudin 23 |
Synonyms |
2310014B08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL02078
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
36291866-36293713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36293359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 43
(V43E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060128]
|
AlphaFold |
Q9D7D7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060128
AA Change: V43E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049725 Gene: ENSMUSG00000055976 AA Change: V43E
Domain | Start | End | E-Value | Type |
Pfam:PMP22_Claudin
|
3 |
177 |
6e-19 |
PFAM |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210370
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and the protein encoded by this gene is 77% identical to the human homolog. [provided by RefSeq, Aug 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,888,179 (GRCm39) |
D87G |
probably benign |
Het |
Acap1 |
C |
T |
11: 69,786,112 (GRCm39) |
R18Q |
probably damaging |
Het |
Atp1a1 |
A |
C |
3: 101,499,179 (GRCm39) |
V140G |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,576,498 (GRCm39) |
P112S |
possibly damaging |
Het |
Chst8 |
T |
A |
7: 34,374,759 (GRCm39) |
N360I |
possibly damaging |
Het |
Clta |
T |
C |
4: 44,030,232 (GRCm39) |
F168S |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,755,926 (GRCm39) |
I463V |
probably benign |
Het |
E2f2 |
A |
G |
4: 135,920,323 (GRCm39) |
D436G |
probably damaging |
Het |
Fbxo24 |
T |
G |
5: 137,622,611 (GRCm39) |
T52P |
probably damaging |
Het |
Gria4 |
G |
A |
9: 4,793,878 (GRCm39) |
A60V |
probably damaging |
Het |
Grm1 |
C |
T |
10: 10,565,354 (GRCm39) |
V985M |
probably benign |
Het |
Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
Inf2 |
T |
A |
12: 112,568,048 (GRCm39) |
V200E |
probably damaging |
Het |
Kif20b |
T |
A |
19: 34,913,044 (GRCm39) |
V319E |
probably damaging |
Het |
Klhl10 |
A |
G |
11: 100,336,577 (GRCm39) |
D188G |
probably benign |
Het |
Mobp |
G |
A |
9: 119,996,980 (GRCm39) |
R37H |
probably damaging |
Het |
Mybpc2 |
T |
A |
7: 44,153,204 (GRCm39) |
D1086V |
probably damaging |
Het |
Nadk |
A |
C |
4: 155,663,860 (GRCm39) |
|
probably benign |
Het |
Or7g33 |
T |
A |
9: 19,448,749 (GRCm39) |
H159L |
probably benign |
Het |
Per1 |
A |
G |
11: 68,995,125 (GRCm39) |
E619G |
probably damaging |
Het |
Rab3gap1 |
G |
A |
1: 127,796,652 (GRCm39) |
|
probably benign |
Het |
Rimkla |
A |
G |
4: 119,325,344 (GRCm39) |
L355P |
probably damaging |
Het |
Rnf139 |
A |
G |
15: 58,771,880 (GRCm39) |
D635G |
possibly damaging |
Het |
Sall1 |
T |
A |
8: 89,757,003 (GRCm39) |
N1034Y |
probably damaging |
Het |
Serpinb13 |
A |
T |
1: 106,926,688 (GRCm39) |
Q228L |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,480,208 (GRCm39) |
M903I |
possibly damaging |
Het |
Slco1a5 |
A |
T |
6: 142,200,172 (GRCm39) |
M204K |
probably benign |
Het |
Smo |
A |
G |
6: 29,754,707 (GRCm39) |
D259G |
possibly damaging |
Het |
Spata31g1 |
A |
C |
4: 42,972,685 (GRCm39) |
K673Q |
possibly damaging |
Het |
Sult2a4 |
T |
C |
7: 13,723,469 (GRCm39) |
I15M |
probably benign |
Het |
Ttn |
T |
A |
2: 76,772,785 (GRCm39) |
|
probably null |
Het |
Wdtc1 |
C |
A |
4: 133,033,271 (GRCm39) |
D176Y |
probably damaging |
Het |
|
Other mutations in Cldn23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01667:Cldn23
|
APN |
8 |
36,293,074 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01767:Cldn23
|
APN |
8 |
36,292,816 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03346:Cldn23
|
APN |
8 |
36,292,594 (GRCm39) |
intron |
probably benign |
|
R1610:Cldn23
|
UTSW |
8 |
36,293,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R1753:Cldn23
|
UTSW |
8 |
36,293,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1915:Cldn23
|
UTSW |
8 |
36,293,099 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2121:Cldn23
|
UTSW |
8 |
36,293,389 (GRCm39) |
missense |
probably benign |
|
R4342:Cldn23
|
UTSW |
8 |
36,292,652 (GRCm39) |
missense |
probably benign |
0.00 |
R5167:Cldn23
|
UTSW |
8 |
36,293,474 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5207:Cldn23
|
UTSW |
8 |
36,293,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6102:Cldn23
|
UTSW |
8 |
36,292,705 (GRCm39) |
missense |
probably benign |
0.00 |
R7106:Cldn23
|
UTSW |
8 |
36,293,069 (GRCm39) |
missense |
probably benign |
|
R7363:Cldn23
|
UTSW |
8 |
36,292,659 (GRCm39) |
critical splice donor site |
probably null |
|
R7721:Cldn23
|
UTSW |
8 |
36,293,417 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8119:Cldn23
|
UTSW |
8 |
36,293,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R9011:Cldn23
|
UTSW |
8 |
36,292,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R9504:Cldn23
|
UTSW |
8 |
36,293,470 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cldn23
|
UTSW |
8 |
36,293,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |