Incidental Mutation 'R2247:Kcnab3'
| ID |
240907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnab3
|
| Ensembl Gene |
ENSMUSG00000018470 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, beta member 3 |
| Synonyms |
Kcnab4, C330022D06Rik, mKv(beta)4 |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69217084-69223867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69221016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 168
(T168A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018614]
[ENSMUST00000060956]
[ENSMUST00000102601]
[ENSMUST00000102602]
[ENSMUST00000108662]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018614
AA Change: T168A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: T168A
| 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 |
probably benign
Transcript: ENSMUST00000060956
|
| SMART Domains |
Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
109 |
2.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102601
|
| SMART Domains |
Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102602
|
| SMART Domains |
Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108662
|
| SMART Domains |
Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
127 |
2.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly damaging |
Het |
|
| Other mutations in Kcnab3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Kcnab3
|
APN |
11 |
69,222,129 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCTATGTTATCACCACCAAG -3'
(R):5'- ATCAACGTATTCCAGCTGGAGG -3'
Sequencing Primer
(F):5'- CGAAGGATCTGTGGTCTA -3'
(R):5'- TCCAGGGATCCTTGCAAGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation