Incidental Mutation 'IGL03209:Clns1a'
| ID |
413224 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clns1a
|
| Ensembl Gene |
ENSMUSG00000025439 |
| Gene Name |
chloride channel, nucleotide-sensitive, 1A |
| Synonyms |
2610100O04Rik, 2610036D06Rik, Clci, Clcni, ICLN |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03209
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97345864-97370000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97360937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 103
(D103G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026506]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026506
AA Change: D103G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026506
Gene: ENSMUSG00000025439
AA Change: D103G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Voldacs
|
40 |
168 |
1.2e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148125
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous mutants die between E3.5-E7.5. Heterozygous mutants appear normal and healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,882,973 (GRCm39) |
A841V |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,576,955 (GRCm39) |
|
probably benign |
Het |
| Arc |
A |
T |
15: 74,543,833 (GRCm39) |
L130Q |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,175,951 (GRCm39) |
V383I |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,662,463 (GRCm39) |
S266G |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,914,905 (GRCm39) |
E101G |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,251 (GRCm39) |
K30R |
possibly damaging |
Het |
| Crispld2 |
C |
A |
8: 120,757,837 (GRCm39) |
A394E |
possibly damaging |
Het |
| Cyp51 |
A |
T |
5: 4,154,195 (GRCm39) |
L38H |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,725,773 (GRCm39) |
|
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,712,675 (GRCm39) |
R129G |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,439,294 (GRCm39) |
Q234R |
probably damaging |
Het |
| Gdpgp1 |
A |
G |
7: 79,888,847 (GRCm39) |
T293A |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,810,493 (GRCm39) |
|
probably null |
Het |
| Ier5l |
G |
T |
2: 30,363,067 (GRCm39) |
D319E |
possibly damaging |
Het |
| Iigp1c |
T |
A |
18: 60,379,143 (GRCm39) |
I226N |
probably damaging |
Het |
| Ikzf1 |
T |
C |
11: 11,650,226 (GRCm39) |
V3A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,017,168 (GRCm39) |
N180D |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,150 (GRCm39) |
S69P |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,022,565 (GRCm39) |
I734V |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,049,114 (GRCm39) |
T871A |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,203,896 (GRCm39) |
C129S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,831 (GRCm39) |
F1232I |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,281,831 (GRCm38) |
Y362* |
probably null |
Het |
| Or2h2c |
A |
T |
17: 37,422,413 (GRCm39) |
S154T |
probably benign |
Het |
| Or5ak23 |
A |
T |
2: 85,244,723 (GRCm39) |
S167T |
probably benign |
Het |
| Patj |
A |
G |
4: 98,353,377 (GRCm39) |
D640G |
probably null |
Het |
| Plxnd1 |
A |
T |
6: 115,939,318 (GRCm39) |
M1502K |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,514,238 (GRCm39) |
V429A |
possibly damaging |
Het |
| Slc25a48 |
T |
C |
13: 56,618,272 (GRCm39) |
V303A |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,959,897 (GRCm39) |
D212G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,078,160 (GRCm39) |
|
probably benign |
Het |
| Tmem65 |
A |
G |
15: 58,656,751 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,002,740 (GRCm39) |
|
probably null |
Het |
| Trim36 |
T |
C |
18: 46,300,575 (GRCm39) |
T687A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,351 (GRCm39) |
D3471E |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,238 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,466,231 (GRCm39) |
I2155F |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
probably benign |
Het |
|
| Other mutations in Clns1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00808:Clns1a
|
APN |
7 |
97,365,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Clns1a
|
UTSW |
7 |
97,363,239 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0234:Clns1a
|
UTSW |
7 |
97,363,239 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1087:Clns1a
|
UTSW |
7 |
97,354,862 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1844:Clns1a
|
UTSW |
7 |
97,346,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2119:Clns1a
|
UTSW |
7 |
97,363,111 (GRCm39) |
splice site |
probably null |
|
|
R3797:Clns1a
|
UTSW |
7 |
97,346,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4463:Clns1a
|
UTSW |
7 |
97,370,156 (GRCm39) |
unclassified |
probably benign |
|
|
R4810:Clns1a
|
UTSW |
7 |
97,363,224 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5574:Clns1a
|
UTSW |
7 |
97,370,165 (GRCm39) |
unclassified |
probably benign |
|
|
R6608:Clns1a
|
UTSW |
7 |
97,365,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7051:Clns1a
|
UTSW |
7 |
97,361,824 (GRCm39) |
splice site |
probably null |
|
|
R7384:Clns1a
|
UTSW |
7 |
97,345,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8183:Clns1a
|
UTSW |
7 |
97,354,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Clns1a
|
UTSW |
7 |
97,363,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9131:Clns1a
|
UTSW |
7 |
97,363,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9328:Clns1a
|
UTSW |
7 |
97,363,240 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2016-08-02 |
Incidental Mutation