Incidental Mutation 'IGL00662:Kcnk9'
| ID |
11564 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnk9
|
| Ensembl Gene |
ENSMUSG00000036760 |
| Gene Name |
potassium channel, subfamily K, member 9 |
| Synonyms |
Task3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL00662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
72372938-72418189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72417924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 69
(S69P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044624]
|
| AlphaFold |
Q3LS21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044624
AA Change: S69P
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
59 |
134 |
3.4e-20 |
PFAM |
|
Pfam:Ion_trans_2
|
165 |
248 |
1.7e-18 |
PFAM |
|
low complexity region
|
308 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
347 |
N/A |
INTRINSIC |
|
| 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 protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased pH sensitive action potential in serotonergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
| Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
| Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
| Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
| Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
| Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
| Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
| Other mutations in Kcnk9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02569:Kcnk9
|
APN |
15 |
72,384,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4520001:Kcnk9
|
UTSW |
15 |
72,384,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0412:Kcnk9
|
UTSW |
15 |
72,384,905 (GRCm39) |
splice site |
probably benign |
|
|
R1507:Kcnk9
|
UTSW |
15 |
72,384,083 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1780:Kcnk9
|
UTSW |
15 |
72,384,250 (GRCm39) |
missense |
unknown |
|
|
R1800:Kcnk9
|
UTSW |
15 |
72,417,948 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2989:Kcnk9
|
UTSW |
15 |
72,384,207 (GRCm39) |
missense |
unknown |
|
|
R4089:Kcnk9
|
UTSW |
15 |
72,418,112 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4710:Kcnk9
|
UTSW |
15 |
72,384,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6375:Kcnk9
|
UTSW |
15 |
72,418,092 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8838:Kcnk9
|
UTSW |
15 |
72,418,019 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9274:Kcnk9
|
UTSW |
15 |
72,384,224 (GRCm39) |
missense |
unknown |
|
|
Z1088:Kcnk9
|
UTSW |
15 |
72,417,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-12-06 |
Incidental Mutation