Incidental Mutation 'R7675:Cldn1'
| ID |
592435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cldn1
|
| Ensembl Gene |
ENSMUSG00000022512 |
| Gene Name |
claudin 1 |
| Synonyms |
|
| MMRRC Submission |
045706-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
26175395-26190589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26190261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 39
(N39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023154]
|
| AlphaFold |
O88551 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023154
AA Change: N39S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: N39S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
182 |
2e-54 |
PFAM |
|
Pfam:Claudin_2
|
15 |
184 |
4.4e-10 |
PFAM |
|
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4279 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (28/29) |
| 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. The knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene have wrinkled skin and die within 1 day after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
| Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
| Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
| Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
| Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
| Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
| Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
| Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
| Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
| Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
| Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
probably null |
Het |
|
| Other mutations in Cldn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01471:Cldn1
|
APN |
16 |
26,190,322 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02937:Cldn1
|
APN |
16 |
26,179,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Cldn1
|
UTSW |
16 |
26,190,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Cldn1
|
UTSW |
16 |
26,190,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2264:Cldn1
|
UTSW |
16 |
26,177,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Cldn1
|
UTSW |
16 |
26,190,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Cldn1
|
UTSW |
16 |
26,181,913 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5711:Cldn1
|
UTSW |
16 |
26,190,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Cldn1
|
UTSW |
16 |
26,181,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6017:Cldn1
|
UTSW |
16 |
26,181,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Cldn1
|
UTSW |
16 |
26,190,376 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R7199:Cldn1
|
UTSW |
16 |
26,190,346 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7373:Cldn1
|
UTSW |
16 |
26,179,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7600:Cldn1
|
UTSW |
16 |
26,179,669 (GRCm39) |
missense |
probably benign |
|
|
R8840:Cldn1
|
UTSW |
16 |
26,190,286 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9489:Cldn1
|
UTSW |
16 |
26,181,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Cldn1
|
UTSW |
16 |
26,179,619 (GRCm39) |
nonsense |
probably null |
|
|
R9605:Cldn1
|
UTSW |
16 |
26,181,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cldn1
|
UTSW |
16 |
26,179,614 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTACAGAGGACAAGGGCTCC -3'
(R):5'- TGTTTGCAGAGACCCCATCAC -3'
Sequencing Primer
(F):5'- ACAAGGGCTCCAAGGCTG -3'
(R):5'- GTGCGCACCTTGCAAACTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation