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 |
Kcnab4, C330022D06Rik, mKv(beta)4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00841
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69217084-69223867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69222129 bp (GRCm39)
|
| 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: 96,554,338 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,185,999 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,225,689 (GRCm39) |
S514P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,766,164 (GRCm39) |
S150* |
probably null |
Het |
| Ces1g |
T |
A |
8: 94,029,615 (GRCm39) |
D539V |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,068,064 (GRCm39) |
D752G |
probably damaging |
Het |
| Ctsd |
A |
C |
7: 141,936,418 (GRCm39) |
S128A |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,621,077 (GRCm39) |
L544F |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,346,189 (GRCm39) |
I1566N |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,412,095 (GRCm39) |
H148Q |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,471,596 (GRCm39) |
M1K |
probably null |
Het |
| Ivd |
T |
C |
2: 118,707,383 (GRCm39) |
V299A |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,058,040 (GRCm39) |
N838K |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,220,458 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Scel |
A |
T |
14: 103,767,431 (GRCm39) |
Q30L |
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,139,574 (GRCm39) |
S40R |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,880,184 (GRCm39) |
K71M |
probably damaging |
Het |
| Vegfb |
A |
G |
19: 6,963,846 (GRCm39) |
W38R |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,235,094 (GRCm39) |
F588V |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,264,438 (GRCm39) |
L479M |
probably damaging |
Het |
|
| Other mutations in Kcnab3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Kcnab3
|
APN |
11 |
69,220,705 (GRCm39) |
missense |
probably benign |
|
|
IGL01642:Kcnab3
|
APN |
11 |
69,221,256 (GRCm39) |
missense |
probably benign |
|
|
IGL02589:Kcnab3
|
APN |
11 |
69,222,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8786:Kcnab3
|
UTSW |
11 |
69,219,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Kcnab3
|
UTSW |
11 |
69,221,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0046:Kcnab3
|
UTSW |
11 |
69,221,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2247:Kcnab3
|
UTSW |
11 |
69,221,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3771:Kcnab3
|
UTSW |
11 |
69,219,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4725:Kcnab3
|
UTSW |
11 |
69,221,294 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4927:Kcnab3
|
UTSW |
11 |
69,217,572 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6237:Kcnab3
|
UTSW |
11 |
69,219,401 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7164:Kcnab3
|
UTSW |
11 |
69,222,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7676:Kcnab3
|
UTSW |
11 |
69,217,553 (GRCm39) |
missense |
probably benign |
|
|
R7880:Kcnab3
|
UTSW |
11 |
69,222,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Kcnab3
|
UTSW |
11 |
69,218,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9255:Kcnab3
|
UTSW |
11 |
69,222,337 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation