Incidental Mutation 'IGL03260:Scn4b'
| ID |
414797 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scn4b
|
| Ensembl Gene |
ENSMUSG00000046480 |
| Gene Name |
sodium channel, type IV, beta |
| Synonyms |
LOC384934 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03260
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45049922-45065453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45058987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 86
(N86I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060125]
|
| AlphaFold |
Q7M729 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060125
AA Change: N86I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062507
Gene: ENSMUSG00000046480
AA Change: N86I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
IG
|
38 |
152 |
4.49e-6 |
SMART |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933406P04Rik |
A |
G |
10: 20,187,071 (GRCm39) |
|
probably benign |
Het |
| Abca12 |
A |
G |
1: 71,323,258 (GRCm39) |
L1608P |
probably damaging |
Het |
| Akr1b8 |
G |
T |
6: 34,340,394 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
A |
G |
11: 85,107,283 (GRCm39) |
V69A |
probably benign |
Het |
| Ces1e |
T |
C |
8: 93,950,545 (GRCm39) |
N79D |
probably benign |
Het |
| Cldn34b3 |
A |
G |
X: 75,310,479 (GRCm39) |
T16A |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,373,185 (GRCm39) |
F103Y |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,932 (GRCm39) |
F233S |
probably damaging |
Het |
| Igkv8-30 |
A |
T |
6: 70,094,339 (GRCm39) |
M24K |
probably damaging |
Het |
| Krt72 |
C |
T |
15: 101,686,708 (GRCm39) |
A413T |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,250 (GRCm39) |
T63A |
probably benign |
Het |
| Naa35 |
T |
G |
13: 59,775,699 (GRCm39) |
S125A |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
| Or6z7 |
A |
T |
7: 6,483,658 (GRCm39) |
C166S |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,555,505 (GRCm39) |
H240R |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,097,106 (GRCm39) |
T240A |
probably benign |
Het |
| Ppp2ca |
A |
G |
11: 52,003,975 (GRCm39) |
N44S |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,378 (GRCm39) |
|
probably benign |
Het |
| Rab33a |
A |
G |
X: 47,608,545 (GRCm39) |
E23G |
probably benign |
Het |
| Scarb2 |
G |
T |
5: 92,594,296 (GRCm39) |
A422E |
probably damaging |
Het |
| Serpina1d |
G |
A |
12: 103,730,108 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc12a3 |
T |
A |
8: 95,059,870 (GRCm39) |
I172N |
probably damaging |
Het |
| Slc18a1 |
T |
C |
8: 69,527,766 (GRCm39) |
E15G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,575,942 (GRCm39) |
|
probably benign |
Het |
| Srpx |
T |
A |
X: 9,921,987 (GRCm39) |
K216* |
probably null |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,838,626 (GRCm39) |
S742P |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,263,083 (GRCm39) |
C126Y |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,578,616 (GRCm39) |
N92K |
probably damaging |
Het |
|
| Other mutations in Scn4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02563:Scn4b
|
APN |
9 |
45,057,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Scn4b
|
UTSW |
9 |
45,061,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2341:Scn4b
|
UTSW |
9 |
45,059,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Scn4b
|
UTSW |
9 |
45,061,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Scn4b
|
UTSW |
9 |
45,059,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7920:Scn4b
|
UTSW |
9 |
45,058,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7993:Scn4b
|
UTSW |
9 |
45,059,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8352:Scn4b
|
UTSW |
9 |
45,058,039 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8452:Scn4b
|
UTSW |
9 |
45,058,039 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8906:Scn4b
|
UTSW |
9 |
45,059,169 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9157:Scn4b
|
UTSW |
9 |
45,058,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Scn4b
|
UTSW |
9 |
45,058,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Scn4b
|
UTSW |
9 |
45,060,639 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation