Incidental Mutation 'R1602:Kcnc4'
| ID |
176190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnc4
|
| Ensembl Gene |
ENSMUSG00000027895 |
| Gene Name |
potassium voltage gated channel, Shaw-related subfamily, member 4 |
| Synonyms |
Kv3.4, Kcr2-4 |
| MMRRC Submission |
039639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R1602 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107345619-107366868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107355520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 309
(D309E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009617]
|
| AlphaFold |
Q8R1C0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009617
AA Change: D309E
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: D309E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Potassium_chann
|
1 |
29 |
3e-23 |
PFAM |
|
BTB
|
36 |
155 |
4.66e-16 |
SMART |
|
low complexity region
|
168 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
211 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
229 |
487 |
2.6e-46 |
PFAM |
|
Pfam:Ion_trans_2
|
386 |
480 |
3e-12 |
PFAM |
|
low complexity region
|
489 |
505 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
| Validation Efficiency |
91% (49/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
T |
17: 66,290,683 (GRCm39) |
Y1583* |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,611,058 (GRCm39) |
T428A |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Atr |
T |
C |
9: 95,833,610 (GRCm39) |
L2620P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,391,955 (GRCm39) |
Y54C |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,732,548 (GRCm39) |
V480A |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,299,531 (GRCm39) |
D308G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,135,789 (GRCm39) |
I1919N |
probably damaging |
Het |
| Ctsc |
T |
A |
7: 87,927,512 (GRCm39) |
D34E |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 87,328,594 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,044,452 (GRCm39) |
I3220F |
probably damaging |
Het |
| Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
| Eif4a3l1 |
G |
A |
6: 136,305,778 (GRCm39) |
A80T |
probably damaging |
Het |
| Elmod3 |
A |
G |
6: 72,546,242 (GRCm39) |
|
probably null |
Het |
| Fgd5 |
T |
C |
6: 92,043,165 (GRCm39) |
V1215A |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,727,873 (GRCm39) |
M249V |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,355,968 (GRCm39) |
P803L |
unknown |
Het |
| Gcfc2 |
A |
G |
6: 81,921,401 (GRCm39) |
K469R |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,790,111 (GRCm39) |
T637A |
probably damaging |
Het |
| Kank2 |
T |
C |
9: 21,681,133 (GRCm39) |
S799G |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,002,774 (GRCm39) |
T1069M |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,602,842 (GRCm39) |
M210K |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,683,020 (GRCm39) |
|
probably null |
Het |
| Oat |
G |
T |
7: 132,171,736 (GRCm39) |
T33K |
probably benign |
Het |
| Or2ad1 |
T |
C |
13: 21,326,820 (GRCm39) |
M136V |
probably damaging |
Het |
| Or4b1d |
A |
G |
2: 89,969,399 (GRCm39) |
F28S |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,682,802 (GRCm39) |
M316L |
probably benign |
Het |
| Pcnx3 |
G |
T |
19: 5,722,543 (GRCm39) |
A1383E |
probably damaging |
Het |
| Pctp |
T |
C |
11: 89,879,561 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pex6 |
G |
T |
17: 47,023,063 (GRCm39) |
R213L |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,660,655 (GRCm39) |
L770S |
possibly damaging |
Het |
| Pkn2 |
A |
T |
3: 142,559,299 (GRCm39) |
D75E |
possibly damaging |
Het |
| Pla2g12b |
T |
C |
10: 59,257,375 (GRCm39) |
|
probably null |
Het |
| Plch2 |
C |
T |
4: 155,068,907 (GRCm39) |
V1135I |
probably damaging |
Het |
| Pskh1 |
T |
A |
8: 106,639,453 (GRCm39) |
S44R |
probably benign |
Het |
| Ptpra |
G |
T |
2: 30,327,602 (GRCm39) |
A119S |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,989,607 (GRCm39) |
I433T |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,103,541 (GRCm39) |
I137M |
probably damaging |
Het |
| St6galnac1 |
A |
T |
11: 116,660,113 (GRCm39) |
S67T |
probably benign |
Het |
| Timd5 |
T |
C |
11: 46,426,415 (GRCm39) |
I174T |
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,671,917 (GRCm39) |
E137G |
probably damaging |
Het |
| Ubr2 |
A |
C |
17: 47,251,987 (GRCm39) |
C1518G |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,386,571 (GRCm39) |
C470S |
probably damaging |
Het |
|
| Other mutations in Kcnc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Kcnc4
|
APN |
3 |
107,355,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00899:Kcnc4
|
APN |
3 |
107,365,779 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01755:Kcnc4
|
APN |
3 |
107,355,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01895:Kcnc4
|
APN |
3 |
107,355,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02741:Kcnc4
|
APN |
3 |
107,355,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03393:Kcnc4
|
APN |
3 |
107,355,243 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
PIT4151001:Kcnc4
|
UTSW |
3 |
107,366,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Kcnc4
|
UTSW |
3 |
107,354,879 (GRCm39) |
missense |
probably benign |
|
|
R0158:Kcnc4
|
UTSW |
3 |
107,365,920 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0415:Kcnc4
|
UTSW |
3 |
107,352,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Kcnc4
|
UTSW |
3 |
107,355,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0747:Kcnc4
|
UTSW |
3 |
107,355,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Kcnc4
|
UTSW |
3 |
107,355,534 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1540:Kcnc4
|
UTSW |
3 |
107,352,743 (GRCm39) |
splice site |
probably null |
|
|
R2422:Kcnc4
|
UTSW |
3 |
107,352,863 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3750:Kcnc4
|
UTSW |
3 |
107,355,506 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4791:Kcnc4
|
UTSW |
3 |
107,354,859 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4815:Kcnc4
|
UTSW |
3 |
107,365,582 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5216:Kcnc4
|
UTSW |
3 |
107,346,757 (GRCm39) |
missense |
probably benign |
|
|
R5259:Kcnc4
|
UTSW |
3 |
107,355,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Kcnc4
|
UTSW |
3 |
107,366,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5474:Kcnc4
|
UTSW |
3 |
107,355,207 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5783:Kcnc4
|
UTSW |
3 |
107,355,188 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5865:Kcnc4
|
UTSW |
3 |
107,365,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6228:Kcnc4
|
UTSW |
3 |
107,355,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6536:Kcnc4
|
UTSW |
3 |
107,355,512 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7018:Kcnc4
|
UTSW |
3 |
107,366,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7319:Kcnc4
|
UTSW |
3 |
107,366,100 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7687:Kcnc4
|
UTSW |
3 |
107,365,925 (GRCm39) |
small insertion |
probably benign |
|
|
R8436:Kcnc4
|
UTSW |
3 |
107,366,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8707:Kcnc4
|
UTSW |
3 |
107,355,449 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8844:Kcnc4
|
UTSW |
3 |
107,355,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Kcnc4
|
UTSW |
3 |
107,355,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Kcnc4
|
UTSW |
3 |
107,365,571 (GRCm39) |
nonsense |
probably null |
|
|
X0020:Kcnc4
|
UTSW |
3 |
107,354,967 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGCGTACAAAGCGTACCAC -3'
(R):5'- GCCAGTTATCACTGACTTGACAGCC -3'
Sequencing Primer
(F):5'- AGCGTACCACACGCAGG -3'
(R):5'- CCTACAGGTGGTAGCCTTTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation