Incidental Mutation 'IGL03159:Kcnk7'
ID |
411352 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnk7
|
Ensembl Gene |
ENSMUSG00000024936 |
Gene Name |
potassium channel, subfamily K, member 7 |
Synonyms |
Mlk3, 2310014G03Rik, Kcnk8, Knot |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03159
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5754395-5757137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5756116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 114
(L114P)
|
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 damaging
Transcript: ENSMUST00000052448
AA Change: L114P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051278 Gene: ENSMUSG00000024936 AA Change: L114P
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 |
|
Coding Region Coverage |
|
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 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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
A |
13: 104,580,723 (GRCm39) |
M812K |
probably damaging |
Het |
Ctnnal1 |
G |
A |
4: 56,844,599 (GRCm39) |
R122W |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
Defa29 |
A |
G |
8: 21,816,978 (GRCm39) |
V5A |
possibly damaging |
Het |
Defb22 |
A |
G |
2: 152,331,995 (GRCm39) |
F13L |
probably benign |
Het |
Gmds |
C |
A |
13: 32,003,934 (GRCm39) |
D362Y |
probably damaging |
Het |
Gtf2h1 |
T |
C |
7: 46,456,167 (GRCm39) |
V179A |
possibly damaging |
Het |
Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,495,328 (GRCm39) |
|
probably benign |
Het |
Mfsd3 |
A |
G |
15: 76,587,101 (GRCm39) |
T285A |
probably benign |
Het |
Or5g27 |
A |
G |
2: 85,410,284 (GRCm39) |
R234G |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,084,498 (GRCm39) |
M321T |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,051,372 (GRCm39) |
N185K |
probably benign |
Het |
Smo |
A |
G |
6: 29,758,504 (GRCm39) |
R550G |
probably benign |
Het |
Tbc1d31 |
T |
G |
15: 57,783,444 (GRCm39) |
|
probably null |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,404,162 (GRCm39) |
F10I |
probably benign |
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 |
|
R0025:Kcnk7
|
UTSW |
19 |
5,757,042 (GRCm39) |
makesense |
probably null |
|
R0739:Kcnk7
|
UTSW |
19 |
5,754,830 (GRCm39) |
splice site |
probably null |
|
R0855:Kcnk7
|
UTSW |
19 |
5,756,103 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
Posted On |
2016-08-02 |