Incidental Mutation 'IGL01769:Cldn10'
| ID |
153822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cldn10
|
| Ensembl Gene |
ENSMUSG00000022132 |
| Gene Name |
claudin 10 |
| Synonyms |
D14Ertd728e, 6720456I16Rik, Cldn10a, Cldn10b |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.651)
|
| Stock # |
IGL01769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
119025283-119111937 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 119111129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004055]
[ENSMUST00000047208]
[ENSMUST00000047761]
[ENSMUST00000071546]
[ENSMUST00000100314]
|
| AlphaFold |
Q9Z0S6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004055
|
| SMART Domains |
Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
43 |
163 |
3.6e-45 |
PFAM |
|
ZnF_C2H2
|
183 |
206 |
2.09e-3 |
SMART |
|
coiled coil region
|
214 |
249 |
N/A |
INTRINSIC |
|
coiled coil region
|
276 |
303 |
N/A |
INTRINSIC |
|
coiled coil region
|
385 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
795 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047208
|
| SMART Domains |
Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
43 |
163 |
3.7e-46 |
PFAM |
|
ZnF_C2H2
|
183 |
206 |
2.09e-3 |
SMART |
|
coiled coil region
|
214 |
249 |
N/A |
INTRINSIC |
|
coiled coil region
|
276 |
303 |
N/A |
INTRINSIC |
|
coiled coil region
|
385 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
795 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047761
|
| SMART Domains |
Protein: ENSMUSP00000041616
Gene: ENSMUSG00000022132
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
3 |
177 |
9.2e-44 |
PFAM |
|
Pfam:Claudin_2
|
13 |
179 |
3.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071546
|
| SMART Domains |
Protein: ENSMUSP00000071476
Gene: ENSMUSG00000022132
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
3 |
167 |
9e-35 |
PFAM |
|
Pfam:Claudin_2
|
13 |
160 |
2.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100314
|
| SMART Domains |
Protein: ENSMUSP00000097889
Gene: ENSMUSG00000022132
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
179 |
9.6e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228157
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight unction 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. Six alternatively spliced transcript variants have been identified, which encode different isoforms with distinct electric charge of the first extracellular loop and with or without the fourth transmembrane region. These isoforms exhibit distinct localization and function in paracellular anion or cation permeability. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice lacking expression of this gene in the thick ascending limb of renal tubules display nephrocalcinosis, hypermagnesemia, and abnormalities in renal reabsorbtion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,215 (GRCm39) |
M162L |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,283 (GRCm39) |
T487S |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,171,030 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,185,145 (GRCm39) |
T657I |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,264,806 (GRCm39) |
I204K |
probably damaging |
Het |
| Crim1 |
C |
A |
17: 78,620,664 (GRCm39) |
T368K |
probably benign |
Het |
| Csad |
C |
A |
15: 102,088,516 (GRCm39) |
V237L |
probably benign |
Het |
| Cyp39a1 |
T |
G |
17: 44,060,806 (GRCm39) |
H451Q |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,723,667 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,842,008 (GRCm39) |
Y1331F |
possibly damaging |
Het |
| Dnajc11 |
A |
T |
4: 152,063,759 (GRCm39) |
I452L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,962,810 (GRCm39) |
|
probably benign |
Het |
| Elovl2 |
A |
C |
13: 41,340,420 (GRCm39) |
V225G |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,522,072 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt4 |
C |
T |
11: 49,525,998 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,409,834 (GRCm39) |
V478A |
possibly damaging |
Het |
| H2-Q1 |
G |
A |
17: 35,542,505 (GRCm39) |
V317M |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Igkv3-5 |
G |
A |
6: 70,640,336 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,564,129 (GRCm39) |
C12Y |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Nat8f5 |
G |
A |
6: 85,794,859 (GRCm39) |
R34C |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,759,629 (GRCm39) |
V73A |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,932 (GRCm39) |
S454P |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,443,760 (GRCm38) |
E176V |
probably damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,063 (GRCm39) |
I303F |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,056,816 (GRCm39) |
E110K |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,839,527 (GRCm39) |
I377L |
probably benign |
Het |
| Smim19 |
T |
C |
8: 22,953,393 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
A |
G |
17: 3,477,565 (GRCm39) |
Y596C |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ubxn8 |
G |
A |
8: 34,119,406 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
C |
A |
17: 20,691,280 (GRCm39) |
M414I |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,377 (GRCm39) |
N467S |
probably damaging |
Het |
| Zfp456 |
T |
A |
13: 67,515,272 (GRCm39) |
T145S |
probably benign |
Het |
|
| Other mutations in Cldn10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02064:Cldn10
|
APN |
14 |
119,092,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Cldn10
|
UTSW |
14 |
119,111,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Cldn10
|
UTSW |
14 |
119,111,080 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3712:Cldn10
|
UTSW |
14 |
119,092,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Cldn10
|
UTSW |
14 |
119,025,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4941:Cldn10
|
UTSW |
14 |
119,025,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4942:Cldn10
|
UTSW |
14 |
119,025,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4943:Cldn10
|
UTSW |
14 |
119,025,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4998:Cldn10
|
UTSW |
14 |
119,025,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6160:Cldn10
|
UTSW |
14 |
119,099,255 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7205:Cldn10
|
UTSW |
14 |
119,099,255 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7943:Cldn10
|
UTSW |
14 |
119,099,271 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8519:Cldn10
|
UTSW |
14 |
119,092,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8895:Cldn10
|
UTSW |
14 |
119,092,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Cldn10
|
UTSW |
14 |
119,025,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Cldn10
|
UTSW |
14 |
119,111,647 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9657:Cldn10
|
UTSW |
14 |
119,025,781 (GRCm39) |
missense |
probably benign |
|
|
R9676:Cldn10
|
UTSW |
14 |
119,025,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Cldn10
|
UTSW |
14 |
119,099,189 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-02-04 |
Incidental Mutation