Incidental Mutation 'R2235:Kcnab1'
| ID |
240377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnab1
|
| Ensembl Gene |
ENSMUSG00000027827 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, beta member 1 |
| Synonyms |
mKv(beta)1, Akr8a8, Kvbeta1.1 |
| MMRRC Submission |
040236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64856636-65285643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65226888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 189
(V189D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049230]
|
| AlphaFold |
P63143 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049230
AA Change: V189D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047480
Gene: ENSMUSG00000027827
AA Change: V189D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
85 |
390 |
1.8e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159525
|
| SMART Domains |
Protein: ENSMUSP00000124311
Gene: ENSMUSG00000027827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
85 |
343 |
1.3e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161404
|
| SMART Domains |
Protein: ENSMUSP00000125578
Gene: ENSMUSG00000027827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
1 |
284 |
4e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161979
|
| SMART Domains |
Protein: ENSMUSP00000125050
Gene: ENSMUSG00000027827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
50 |
355 |
1.2e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some learning defects but are otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,517,001 (GRCm39) |
D514G |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,568,408 (GRCm39) |
L1037Q |
probably damaging |
Het |
| Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
| Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
| Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
probably benign |
Het |
|
| Other mutations in Kcnab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Kcnab1
|
APN |
3 |
65,226,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Kcnab1
|
APN |
3 |
65,265,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02291:Kcnab1
|
APN |
3 |
65,264,503 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02425:Kcnab1
|
APN |
3 |
65,209,600 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
PIT4418001:Kcnab1
|
UTSW |
3 |
65,265,741 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0017:Kcnab1
|
UTSW |
3 |
65,264,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0017:Kcnab1
|
UTSW |
3 |
65,264,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0811:Kcnab1
|
UTSW |
3 |
65,205,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Kcnab1
|
UTSW |
3 |
65,205,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Kcnab1
|
UTSW |
3 |
65,209,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1926:Kcnab1
|
UTSW |
3 |
65,283,933 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2064:Kcnab1
|
UTSW |
3 |
65,272,060 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2152:Kcnab1
|
UTSW |
3 |
65,278,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Kcnab1
|
UTSW |
3 |
65,278,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2197:Kcnab1
|
UTSW |
3 |
65,017,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2233:Kcnab1
|
UTSW |
3 |
65,226,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Kcnab1
|
UTSW |
3 |
65,264,435 (GRCm39) |
splice site |
probably benign |
|
|
R3916:Kcnab1
|
UTSW |
3 |
65,211,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4093:Kcnab1
|
UTSW |
3 |
65,207,035 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4347:Kcnab1
|
UTSW |
3 |
65,204,896 (GRCm39) |
intron |
probably benign |
|
|
R4796:Kcnab1
|
UTSW |
3 |
65,211,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5588:Kcnab1
|
UTSW |
3 |
65,283,976 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7254:Kcnab1
|
UTSW |
3 |
65,226,908 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7347:Kcnab1
|
UTSW |
3 |
65,283,952 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7424:Kcnab1
|
UTSW |
3 |
65,173,924 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Kcnab1
|
UTSW |
3 |
65,264,554 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Kcnab1
|
UTSW |
3 |
65,173,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCTGTTCAAGAGGACTC -3'
(R):5'- GGCTTTTGGGGTCAATACAGAAG -3'
Sequencing Primer
(F):5'- GAGGACTCTTGTAATTAACTCAGTG -3'
(R):5'- TTTTGGGGTCAATACAGAAGCTAAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation