Incidental Mutation 'IGL00841:Kcnab3'
| ID |
11548 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnab3
|
| Ensembl Gene |
ENSMUSG00000018470 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, beta member 3 |
| Synonyms |
mKv(beta)4, C330022D06Rik, Kcnab4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00841
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69326258-69333042 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69331303 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 292
(I292V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018614]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018614
AA Change: I292V
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:Aldo_ket_red
|
92 |
396 |
1.6e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| 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 member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1b |
T |
C |
13: 96,417,830 (GRCm38) |
|
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,135,969 (GRCm38) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,383,769 (GRCm38) |
S514P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,039,536 (GRCm38) |
S150* |
probably null |
Het |
| Ces1g |
T |
A |
8: 93,302,987 (GRCm38) |
D539V |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,362,309 (GRCm38) |
D752G |
probably damaging |
Het |
| Ctsd |
A |
C |
7: 142,382,681 (GRCm38) |
S128A |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,546,114 (GRCm38) |
G384S |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,819,877 (GRCm38) |
L544F |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,422,724 (GRCm38) |
I1566N |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,365,321 (GRCm38) |
H148Q |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,507,976 (GRCm38) |
M1K |
probably null |
Het |
| Ivd |
T |
C |
2: 118,876,902 (GRCm38) |
V299A |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 35,590,886 (GRCm38) |
N838K |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,063,116 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,144,873 (GRCm38) |
T648P |
possibly damaging |
Het |
| Scel |
A |
T |
14: 103,529,995 (GRCm38) |
Q30L |
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,139,487 (GRCm38) |
S40R |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,642,727 (GRCm38) |
K71M |
probably damaging |
Het |
| Vegfb |
A |
G |
19: 6,986,478 (GRCm38) |
W38R |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,285,094 (GRCm38) |
F588V |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,537,868 (GRCm38) |
L479M |
probably damaging |
Het |
|
| Other mutations in Kcnab3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Kcnab3
|
APN |
11 |
69,329,879 (GRCm38) |
missense |
probably benign |
|
|
IGL01642:Kcnab3
|
APN |
11 |
69,330,430 (GRCm38) |
missense |
probably benign |
|
|
IGL02589:Kcnab3
|
APN |
11 |
69,332,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
H8786:Kcnab3
|
UTSW |
11 |
69,328,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0046:Kcnab3
|
UTSW |
11 |
69,330,227 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0046:Kcnab3
|
UTSW |
11 |
69,330,227 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2247:Kcnab3
|
UTSW |
11 |
69,330,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3771:Kcnab3
|
UTSW |
11 |
69,328,563 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4725:Kcnab3
|
UTSW |
11 |
69,330,468 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4927:Kcnab3
|
UTSW |
11 |
69,326,746 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6237:Kcnab3
|
UTSW |
11 |
69,328,575 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7164:Kcnab3
|
UTSW |
11 |
69,331,358 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7676:Kcnab3
|
UTSW |
11 |
69,326,727 (GRCm38) |
missense |
probably benign |
|
|
R7880:Kcnab3
|
UTSW |
11 |
69,331,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8851:Kcnab3
|
UTSW |
11 |
69,328,164 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9255:Kcnab3
|
UTSW |
11 |
69,331,511 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation