Incidental Mutation 'R2989:Kcnk9'
ID |
257874 |
Institutional Source |
Beutler Lab
|
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 # |
R2989 (G1)
|
Quality Score |
199 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
72372938-72418189 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72384207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 324
(T324A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044624]
|
AlphaFold |
Q3LS21 |
Predicted Effect |
unknown
Transcript: ENSMUST00000044624
AA Change: T324A
|
SMART Domains |
Protein: ENSMUSP00000038729 Gene: ENSMUSG00000036760 AA Change: T324A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,729,866 (GRCm39) |
T205I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,150,694 (GRCm39) |
N31K |
possibly damaging |
Het |
C1galt1 |
A |
G |
6: 7,866,622 (GRCm39) |
D156G |
possibly damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Coil |
C |
A |
11: 88,878,805 (GRCm39) |
A520D |
probably damaging |
Het |
Cpe |
G |
T |
8: 65,050,549 (GRCm39) |
N386K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,061,302 (GRCm39) |
I4295T |
probably benign |
Het |
Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
G530012D18Rik |
GAGAGAGACAGAGAGACAGAGA |
GAGAGAGACAGAGA |
1: 85,504,937 (GRCm39) |
|
probably null |
Het |
Intu |
A |
G |
3: 40,647,140 (GRCm39) |
K671R |
probably benign |
Het |
Jup |
T |
C |
11: 100,267,667 (GRCm39) |
D552G |
possibly damaging |
Het |
Mettl5 |
G |
T |
2: 69,711,659 (GRCm39) |
A69E |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,583,831 (GRCm39) |
M303K |
probably benign |
Het |
Rpf2 |
A |
G |
10: 40,115,749 (GRCm39) |
S77P |
probably benign |
Het |
Sgo1 |
A |
G |
17: 53,994,162 (GRCm39) |
Y97H |
probably benign |
Het |
Srsf12 |
T |
C |
4: 33,223,599 (GRCm39) |
Y33H |
probably damaging |
Het |
Tcerg1 |
T |
A |
18: 42,652,540 (GRCm39) |
M56K |
unknown |
Het |
Trafd1 |
T |
C |
5: 121,517,529 (GRCm39) |
T63A |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,371,881 (GRCm39) |
V777I |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,190,869 (GRCm39) |
E937G |
possibly damaging |
Het |
Zfp677 |
T |
C |
17: 21,617,114 (GRCm39) |
I57T |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,347 (GRCm39) |
I424N |
probably benign |
Het |
|
Other mutations in Kcnk9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Kcnk9
|
APN |
15 |
72,417,924 (GRCm39) |
missense |
probably benign |
0.25 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTAGATGGACTTGCGACGGAG -3'
(R):5'- AAGAAGAGTGTCTGTCCGTG -3'
Sequencing Primer
(F):5'- CAGGTGTGCATTCCAGGAG -3'
(R):5'- TGTCCGTGCGCCTCAGAG -3'
|
Posted On |
2015-01-11 |