Incidental Mutation 'R0855:Kcnk7'
ID |
82706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk7
|
Ensembl Gene |
ENSMUSG00000024936 |
Gene Name |
potassium channel, subfamily K, member 7 |
Synonyms |
Mlk3, 2310014G03Rik, Kcnk8, Knot |
MMRRC Submission |
039034-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0855 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5754395-5757137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5756103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 110
(H110Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004156]
[ENSMUST00000049295]
[ENSMUST00000052448]
[ENSMUST00000075606]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004156
|
SMART Domains |
Protein: ENSMUSP00000004156 Gene: ENSMUSG00000004054
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
36 |
N/A |
INTRINSIC |
SH3
|
45 |
105 |
6.79e-19 |
SMART |
TyrKc
|
118 |
377 |
6.83e-81 |
SMART |
coiled coil region
|
398 |
444 |
N/A |
INTRINSIC |
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
low complexity region
|
593 |
610 |
N/A |
INTRINSIC |
low complexity region
|
614 |
632 |
N/A |
INTRINSIC |
low complexity region
|
676 |
697 |
N/A |
INTRINSIC |
low complexity region
|
759 |
778 |
N/A |
INTRINSIC |
low complexity region
|
786 |
805 |
N/A |
INTRINSIC |
low complexity region
|
809 |
820 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049295
|
SMART Domains |
Protein: ENSMUSP00000037656 Gene: ENSMUSG00000024937
Domain | Start | End | E-Value | Type |
Pfam:NT-C2
|
12 |
164 |
3.2e-24 |
PFAM |
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
low complexity region
|
276 |
291 |
N/A |
INTRINSIC |
internal_repeat_1
|
442 |
821 |
1.71e-12 |
PROSPERO |
internal_repeat_1
|
833 |
1197 |
1.71e-12 |
PROSPERO |
CH
|
1212 |
1310 |
3.55e-16 |
SMART |
low complexity region
|
1316 |
1331 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1449 |
N/A |
INTRINSIC |
low complexity region
|
1471 |
1484 |
N/A |
INTRINSIC |
low complexity region
|
1493 |
1547 |
N/A |
INTRINSIC |
DUF3585
|
1552 |
1696 |
6.7e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052448
AA Change: H110Y
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000051278 Gene: ENSMUSG00000024936 AA Change: H110Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
67 |
145 |
3.2e-14 |
PFAM |
Pfam:Ion_trans_2
|
175 |
261 |
8.8e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075606
|
SMART Domains |
Protein: ENSMUSP00000126740 Gene: ENSMUSG00000024937
Domain | Start | End | E-Value | Type |
Pfam:NT-C2
|
12 |
164 |
3.9e-25 |
PFAM |
CH
|
268 |
366 |
3.55e-16 |
SMART |
low complexity region
|
372 |
387 |
N/A |
INTRINSIC |
low complexity region
|
482 |
505 |
N/A |
INTRINSIC |
low complexity region
|
527 |
540 |
N/A |
INTRINSIC |
low complexity region
|
549 |
603 |
N/A |
INTRINSIC |
DUF3585
|
608 |
752 |
6.7e-59 |
SMART |
|
Meta Mutation Damage Score |
0.1916 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (35/36) |
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 superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no significant alterations in volatile anesthetic sensitivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
Other mutations in Kcnk7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01843:Kcnk7
|
APN |
19 |
5,756,230 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02348:Kcnk7
|
APN |
19 |
5,756,501 (GRCm39) |
unclassified |
probably benign |
|
IGL03159:Kcnk7
|
APN |
19 |
5,756,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Kcnk7
|
UTSW |
19 |
5,757,042 (GRCm39) |
makesense |
probably null |
|
R0739:Kcnk7
|
UTSW |
19 |
5,754,830 (GRCm39) |
splice site |
probably null |
|
R1506:Kcnk7
|
UTSW |
19 |
5,756,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Kcnk7
|
UTSW |
19 |
5,757,006 (GRCm39) |
missense |
probably benign |
0.02 |
R1716:Kcnk7
|
UTSW |
19 |
5,756,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Kcnk7
|
UTSW |
19 |
5,756,463 (GRCm39) |
missense |
probably benign |
0.00 |
R4715:Kcnk7
|
UTSW |
19 |
5,756,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Kcnk7
|
UTSW |
19 |
5,756,352 (GRCm39) |
missense |
probably benign |
0.00 |
R7018:Kcnk7
|
UTSW |
19 |
5,756,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R7136:Kcnk7
|
UTSW |
19 |
5,756,104 (GRCm39) |
missense |
probably benign |
0.02 |
R7224:Kcnk7
|
UTSW |
19 |
5,756,805 (GRCm39) |
missense |
probably benign |
|
R8458:Kcnk7
|
UTSW |
19 |
5,754,407 (GRCm39) |
unclassified |
probably benign |
|
R8832:Kcnk7
|
UTSW |
19 |
5,754,736 (GRCm39) |
missense |
probably damaging |
0.96 |
R8848:Kcnk7
|
UTSW |
19 |
5,756,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTAAGAAGCCAGTCCACCATCCAG -3'
(R):5'- ATCGTGCTGAGTGAGCCGAAAC -3'
Sequencing Primer
(F):5'- GTCCACCATCCAGTGAAAAGAG -3'
(R):5'- ACAGAAGTAGATGGCTTCTAGC -3'
|
Posted On |
2013-11-08 |