Incidental Mutation 'R6591:Cldn8'
| ID |
524602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cldn8
|
| Ensembl Gene |
ENSMUSG00000050520 |
| Gene Name |
claudin 8 |
| Synonyms |
|
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
88357716-88360071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88359423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 167
(I167M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049697]
|
| AlphaFold |
Q9Z260 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049697
AA Change: I167M
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: I167M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
182 |
2.9e-32 |
PFAM |
|
Pfam:Claudin_2
|
15 |
184 |
5.6e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: This intronless 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. The protein encoded by this gene is a paracellular cation barrier. [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 |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Cldn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02888:Cldn8
|
APN |
16 |
88,359,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0038:Cldn8
|
UTSW |
16 |
88,359,922 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0038:Cldn8
|
UTSW |
16 |
88,359,922 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0332:Cldn8
|
UTSW |
16 |
88,359,246 (GRCm39) |
synonymous |
silent |
|
|
R0690:Cldn8
|
UTSW |
16 |
88,359,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Cldn8
|
UTSW |
16 |
88,359,289 (GRCm39) |
missense |
probably benign |
|
|
R1832:Cldn8
|
UTSW |
16 |
88,359,746 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3052:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Cldn8
|
UTSW |
16 |
88,359,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Cldn8
|
UTSW |
16 |
88,359,296 (GRCm39) |
missense |
probably benign |
|
|
R4660:Cldn8
|
UTSW |
16 |
88,359,296 (GRCm39) |
missense |
probably benign |
|
|
R4662:Cldn8
|
UTSW |
16 |
88,359,296 (GRCm39) |
missense |
probably benign |
|
|
R4679:Cldn8
|
UTSW |
16 |
88,359,296 (GRCm39) |
missense |
probably benign |
|
|
R4741:Cldn8
|
UTSW |
16 |
88,359,296 (GRCm39) |
missense |
probably benign |
|
|
R6691:Cldn8
|
UTSW |
16 |
88,359,423 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7684:Cldn8
|
UTSW |
16 |
88,359,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7959:Cldn8
|
UTSW |
16 |
88,359,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Cldn8
|
UTSW |
16 |
88,359,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Cldn8
|
UTSW |
16 |
88,359,902 (GRCm39) |
missense |
probably benign |
|
|
R9756:Cldn8
|
UTSW |
16 |
88,359,917 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCATTTCTCTAAAATAGTGG -3'
(R):5'- AGAACGTGAAGAGCCGCATC -3'
Sequencing Primer
(F):5'- CACAACTACACATACTGACTTTTGG -3'
(R):5'- ATCTTGCTGACAGCCGGAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation