Incidental Mutation 'R4112:Kcna6'
| ID |
314456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcna6
|
| Ensembl Gene |
ENSMUSG00000038077 |
| Gene Name |
potassium voltage-gated channel, shaker-related, subfamily, member 6 |
| Synonyms |
Kv1.6, MK1.6 |
| MMRRC Submission |
040989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4112 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126685292-126717610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 126716737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 51
(R51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040751]
[ENSMUST00000112242]
[ENSMUST00000185333]
|
| AlphaFold |
Q61923 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040751
AA Change: R51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036872
Gene: ENSMUSG00000038077
AA Change: R51G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
41 |
141 |
3.64e-9 |
SMART |
|
transmembrane domain
|
175 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
257 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
265 |
457 |
3.6e-36 |
PFAM |
|
Pfam:Ion_trans_2
|
377 |
462 |
8.1e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112242
AA Change: R51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107861
Gene: ENSMUSG00000038077
AA Change: R51G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
41 |
141 |
3.64e-9 |
SMART |
|
Pfam:Ion_trans
|
173 |
469 |
6.1e-52 |
PFAM |
|
Pfam:Ion_trans_2
|
377 |
462 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181126
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185333
AA Change: R51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139481
Gene: ENSMUSG00000038077
AA Change: R51G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
41 |
141 |
3.64e-9 |
SMART |
|
transmembrane domain
|
175 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
257 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
265 |
457 |
3.6e-36 |
PFAM |
|
Pfam:Ion_trans_2
|
377 |
462 |
8.1e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.8227 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
97% (56/58) |
| 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 contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased thermal nociceptive threshold and in females an increase in circulating triglyceride levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aamp |
A |
G |
1: 74,320,386 (GRCm39) |
|
probably benign |
Het |
| Abcb4 |
A |
G |
5: 8,986,783 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
A |
12: 113,453,256 (GRCm39) |
F24L |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,749,139 (GRCm39) |
Q326L |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,116,661 (GRCm39) |
I327N |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,532,324 (GRCm39) |
E450V |
possibly damaging |
Het |
| Ccdc7b |
G |
T |
8: 129,811,708 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,844 (GRCm39) |
L168P |
probably damaging |
Het |
| Cnot1 |
A |
C |
8: 96,500,246 (GRCm39) |
L111V |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,226,955 (GRCm39) |
N235I |
unknown |
Het |
| Col2a1 |
A |
C |
15: 97,881,582 (GRCm39) |
L787R |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,841 (GRCm39) |
D55E |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,349,673 (GRCm39) |
|
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
| Gemin4 |
T |
A |
11: 76,103,645 (GRCm39) |
E372V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,836,350 (GRCm39) |
K500E |
possibly damaging |
Het |
| Gm10271 |
A |
T |
10: 116,803,943 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
A |
T |
Y: 10,641,878 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5578 |
A |
G |
6: 112,583,466 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,760,167 (GRCm39) |
N234S |
probably damaging |
Het |
| Klf17 |
A |
G |
4: 117,617,898 (GRCm39) |
V153A |
possibly damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,566,170 (GRCm39) |
V331A |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,070,913 (GRCm39) |
V110E |
probably damaging |
Het |
| Nsmaf |
A |
C |
4: 6,417,188 (GRCm39) |
Y535* |
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,336,055 (GRCm39) |
V790M |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,292,068 (GRCm39) |
T976A |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,284 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
T |
9: 107,642,796 (GRCm39) |
D79E |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Rnd3 |
T |
A |
2: 51,038,242 (GRCm39) |
T78S |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,878,281 (GRCm39) |
G1003* |
probably null |
Het |
| Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,155,135 (GRCm39) |
D17N |
probably benign |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sptb |
T |
A |
12: 76,644,553 (GRCm39) |
T2098S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,304,946 (GRCm39) |
L165H |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,803,898 (GRCm39) |
Q20K |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,095,206 (GRCm39) |
F275Y |
probably damaging |
Het |
| Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
| Tmem80 |
A |
G |
7: 140,913,692 (GRCm39) |
|
probably benign |
Het |
| Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,981,946 (GRCm39) |
D40V |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp3 |
T |
A |
11: 70,662,333 (GRCm39) |
S97R |
probably benign |
Het |
|
| Other mutations in Kcna6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Kcna6
|
APN |
6 |
126,715,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01623:Kcna6
|
APN |
6 |
126,715,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Kcna6
|
APN |
6 |
126,715,917 (GRCm39) |
missense |
probably benign |
|
|
IGL02452:Kcna6
|
APN |
6 |
126,715,443 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02480:Kcna6
|
APN |
6 |
126,715,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Kcna6
|
APN |
6 |
126,716,167 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02794:Kcna6
|
APN |
6 |
126,715,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Kcna6
|
UTSW |
6 |
126,716,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1932:Kcna6
|
UTSW |
6 |
126,715,451 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1984:Kcna6
|
UTSW |
6 |
126,715,473 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1985:Kcna6
|
UTSW |
6 |
126,715,473 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2114:Kcna6
|
UTSW |
6 |
126,716,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4111:Kcna6
|
UTSW |
6 |
126,716,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Kcna6
|
UTSW |
6 |
126,715,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Kcna6
|
UTSW |
6 |
126,715,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4884:Kcna6
|
UTSW |
6 |
126,715,689 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5126:Kcna6
|
UTSW |
6 |
126,715,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Kcna6
|
UTSW |
6 |
126,716,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Kcna6
|
UTSW |
6 |
126,716,242 (GRCm39) |
missense |
probably benign |
|
|
R7332:Kcna6
|
UTSW |
6 |
126,716,292 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7766:Kcna6
|
UTSW |
6 |
126,716,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Kcna6
|
UTSW |
6 |
126,715,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Kcna6
|
UTSW |
6 |
126,715,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8000:Kcna6
|
UTSW |
6 |
126,715,948 (GRCm39) |
nonsense |
probably null |
|
|
R8097:Kcna6
|
UTSW |
6 |
126,715,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Kcna6
|
UTSW |
6 |
126,716,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Kcna6
|
UTSW |
6 |
126,716,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:Kcna6
|
UTSW |
6 |
126,716,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9662:Kcna6
|
UTSW |
6 |
126,715,380 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGGGCACATTAACAGG -3'
(R):5'- ATTGAGAGCCAGAGCCACTTC -3'
Sequencing Primer
(F):5'- ATTAACAGGCCTGCGCAG -3'
(R):5'- AGACCTAGCCTGGCAGAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation