Incidental Mutation 'R4534:Ocln'
ID |
333257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ocln
|
Ensembl Gene |
ENSMUSG00000021638 |
Gene Name |
occludin |
Synonyms |
Ocl |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
R4534 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100633015-100689226 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100648112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 104
(I104N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022140]
[ENSMUST00000069756]
[ENSMUST00000159459]
[ENSMUST00000159515]
[ENSMUST00000160859]
|
AlphaFold |
Q61146 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022140
AA Change: I353N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022140 Gene: ENSMUSG00000021638 AA Change: I353N
Domain | Start | End | E-Value | Type |
Pfam:MARVEL
|
57 |
261 |
6.6e-29 |
PFAM |
Pfam:Occludin_ELL
|
419 |
518 |
8.8e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069756
AA Change: I353N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000065284 Gene: ENSMUSG00000021638 AA Change: I353N
Domain | Start | End | E-Value | Type |
Pfam:MARVEL
|
57 |
261 |
3.3e-29 |
PFAM |
Pfam:Occludin_ELL
|
419 |
518 |
3.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159459
AA Change: I104N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125642 Gene: ENSMUSG00000021638 AA Change: I104N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Occludin_ELL
|
170 |
269 |
6.1e-35 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159515
AA Change: I104N
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125595 Gene: ENSMUSG00000021638 AA Change: I104N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160859
AA Change: I353N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124849 Gene: ENSMUSG00000021638 AA Change: I353N
Domain | Start | End | E-Value | Type |
Pfam:MARVEL
|
57 |
261 |
6.6e-29 |
PFAM |
Pfam:Occludin_ELL
|
419 |
518 |
8.8e-35 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011] PHENOTYPE: Homozygous null mice display gastritis, loss of gastric parietal and chief cells, gastric mucus cell hyperplasia, reduced gastric acid secretion, growth retardation, male infertility, seminiferous tubule atrophy, failure to nurse pups, mineral deposits in the brain, and thinning of the compact bone. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl3 |
C |
T |
4: 98,926,232 (GRCm39) |
T454I |
possibly damaging |
Het |
Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Clstn3 |
C |
T |
6: 124,436,179 (GRCm39) |
R190Q |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
C |
T |
5: 139,137,282 (GRCm39) |
Q212* |
probably null |
Het |
Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
Eri2 |
T |
C |
7: 119,389,466 (GRCm39) |
T151A |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
Gm10320 |
G |
A |
13: 98,626,316 (GRCm39) |
P23S |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,217,814 (GRCm39) |
I240M |
possibly damaging |
Het |
Heatr5b |
T |
C |
17: 79,118,025 (GRCm39) |
H806R |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,837,332 (GRCm39) |
V335A |
probably benign |
Het |
Ifi205 |
G |
A |
1: 173,845,207 (GRCm39) |
P192S |
probably benign |
Het |
Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
Ifna9 |
T |
C |
4: 88,510,285 (GRCm39) |
H113R |
possibly damaging |
Het |
Il17rd |
T |
C |
14: 26,818,019 (GRCm39) |
F236S |
probably damaging |
Het |
Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
Jmjd8 |
C |
T |
17: 26,047,984 (GRCm39) |
|
probably null |
Het |
Lhx3 |
C |
T |
2: 26,094,026 (GRCm39) |
V66I |
probably benign |
Het |
Nt5c2 |
C |
T |
19: 46,880,100 (GRCm39) |
C336Y |
probably damaging |
Het |
Ntrk2 |
G |
A |
13: 59,274,343 (GRCm39) |
V740I |
probably damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,613 (GRCm39) |
I101V |
probably benign |
Het |
Or8g54 |
G |
T |
9: 39,707,296 (GRCm39) |
L208F |
probably benign |
Het |
Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
Sh3glb1 |
T |
A |
3: 144,405,624 (GRCm39) |
E77D |
possibly damaging |
Het |
Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,083,757 (GRCm39) |
Y18C |
probably benign |
Het |
Stox2 |
A |
T |
8: 47,646,414 (GRCm39) |
S287T |
probably damaging |
Het |
Sycp2 |
C |
A |
2: 177,996,802 (GRCm39) |
V1134F |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,953,931 (GRCm39) |
S1260N |
possibly damaging |
Het |
Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
Thoc5 |
C |
T |
11: 4,874,807 (GRCm39) |
R533* |
probably null |
Het |
Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
Uchl5 |
C |
T |
1: 143,661,954 (GRCm39) |
T76I |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
Xpa |
T |
C |
4: 46,185,624 (GRCm39) |
N118S |
probably benign |
Het |
Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
Xylt2 |
T |
C |
11: 94,557,176 (GRCm39) |
D105G |
probably benign |
Het |
|
Other mutations in Ocln |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Ocln
|
APN |
13 |
100,671,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Ocln
|
APN |
13 |
100,677,622 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Ocln
|
UTSW |
13 |
100,657,075 (GRCm39) |
intron |
probably benign |
|
R0635:Ocln
|
UTSW |
13 |
100,642,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Ocln
|
UTSW |
13 |
100,647,967 (GRCm39) |
nonsense |
probably null |
|
R2047:Ocln
|
UTSW |
13 |
100,671,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R2193:Ocln
|
UTSW |
13 |
100,676,412 (GRCm39) |
missense |
probably damaging |
0.99 |
R2259:Ocln
|
UTSW |
13 |
100,671,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R3793:Ocln
|
UTSW |
13 |
100,635,402 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4947:Ocln
|
UTSW |
13 |
100,676,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R5055:Ocln
|
UTSW |
13 |
100,675,930 (GRCm39) |
missense |
probably benign |
0.11 |
R5061:Ocln
|
UTSW |
13 |
100,676,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R5218:Ocln
|
UTSW |
13 |
100,642,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R5302:Ocln
|
UTSW |
13 |
100,642,807 (GRCm39) |
missense |
probably damaging |
0.99 |
R5916:Ocln
|
UTSW |
13 |
100,642,687 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6257:Ocln
|
UTSW |
13 |
100,676,017 (GRCm39) |
missense |
probably benign |
0.00 |
R6797:Ocln
|
UTSW |
13 |
100,676,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R6960:Ocln
|
UTSW |
13 |
100,635,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6967:Ocln
|
UTSW |
13 |
100,675,796 (GRCm39) |
nonsense |
probably null |
|
R7000:Ocln
|
UTSW |
13 |
100,671,470 (GRCm39) |
critical splice donor site |
probably null |
|
R7176:Ocln
|
UTSW |
13 |
100,651,591 (GRCm39) |
missense |
probably benign |
0.16 |
R7176:Ocln
|
UTSW |
13 |
100,651,590 (GRCm39) |
missense |
probably damaging |
0.97 |
R7709:Ocln
|
UTSW |
13 |
100,676,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:Ocln
|
UTSW |
13 |
100,676,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R8790:Ocln
|
UTSW |
13 |
100,642,727 (GRCm39) |
missense |
probably benign |
0.00 |
R9430:Ocln
|
UTSW |
13 |
100,676,356 (GRCm39) |
missense |
possibly damaging |
0.68 |
X0023:Ocln
|
UTSW |
13 |
100,648,090 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Ocln
|
UTSW |
13 |
100,671,560 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAATGCTTAAGGGGCAG -3'
(R):5'- CCAGACTGAATGCAGGAATCTG -3'
Sequencing Primer
(F):5'- GGCTTACCTGACCCAGTCC -3'
(R):5'- CTGAATGCAGGAATCTGTGCATC -3'
|
Posted On |
2015-08-18 |