Incidental Mutation 'IGL00977:Kcnk10'
ID |
28787 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnk10
|
Ensembl Gene |
ENSMUSG00000033854 |
Gene Name |
potassium channel, subfamily K, member 10 |
Synonyms |
Trek2, 3010005K24Rik, 1700024D23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL00977
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
98395691-98544472 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98484792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 115
(C115S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110113]
[ENSMUST00000221240]
[ENSMUST00000221305]
|
AlphaFold |
Q8BUW1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110113
AA Change: C101S
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105740 Gene: ENSMUSG00000033854 AA Change: C101S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
55 |
207 |
9.3e-8 |
PFAM |
Pfam:Ion_trans_2
|
126 |
204 |
3.3e-20 |
PFAM |
Pfam:Ion_trans_2
|
223 |
321 |
8.5e-21 |
PFAM |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
low complexity region
|
479 |
489 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221240
AA Change: C115S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221305
AA Change: C118S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221906
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] PHENOTYPE: Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,284 (GRCm39) |
F3619L |
probably damaging |
Het |
Asic5 |
T |
A |
3: 81,911,953 (GRCm39) |
V183E |
possibly damaging |
Het |
Atp2b1 |
T |
C |
10: 98,822,837 (GRCm39) |
V164A |
possibly damaging |
Het |
Bend3 |
A |
G |
10: 43,386,945 (GRCm39) |
Q446R |
possibly damaging |
Het |
Ccdc80 |
C |
A |
16: 44,916,627 (GRCm39) |
T461K |
probably benign |
Het |
Cep350 |
T |
A |
1: 155,808,611 (GRCm39) |
E655V |
probably null |
Het |
Chi3l1 |
T |
C |
1: 134,115,711 (GRCm39) |
F232L |
possibly damaging |
Het |
Degs1 |
T |
A |
1: 182,106,774 (GRCm39) |
I162F |
probably benign |
Het |
Dhdds |
A |
T |
4: 133,727,571 (GRCm39) |
|
probably benign |
Het |
Herc4 |
A |
T |
10: 63,147,346 (GRCm39) |
Y821F |
probably damaging |
Het |
Hpf1 |
A |
G |
8: 61,358,753 (GRCm39) |
H303R |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,740,514 (GRCm39) |
S614P |
probably benign |
Het |
Me2 |
A |
T |
18: 73,924,248 (GRCm39) |
N321K |
probably benign |
Het |
Med16 |
A |
T |
10: 79,743,459 (GRCm39) |
M1K |
probably null |
Het |
Mycbp2 |
A |
G |
14: 103,410,078 (GRCm39) |
F2651L |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,103,822 (GRCm39) |
T1100I |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,314,645 (GRCm39) |
Q1680L |
probably damaging |
Het |
Sh3rf2 |
A |
G |
18: 42,244,283 (GRCm39) |
T250A |
probably benign |
Het |
Sting1 |
C |
T |
18: 35,867,620 (GRCm39) |
E359K |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,022,451 (GRCm39) |
F950L |
possibly damaging |
Het |
Vmn2r129 |
C |
A |
4: 156,686,491 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Kcnk10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01409:Kcnk10
|
APN |
12 |
98,456,322 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02149:Kcnk10
|
APN |
12 |
98,485,099 (GRCm39) |
splice site |
probably benign |
|
R0467:Kcnk10
|
UTSW |
12 |
98,456,204 (GRCm39) |
missense |
probably benign |
0.43 |
R0558:Kcnk10
|
UTSW |
12 |
98,402,560 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0665:Kcnk10
|
UTSW |
12 |
98,406,944 (GRCm39) |
missense |
probably benign |
0.00 |
R1033:Kcnk10
|
UTSW |
12 |
98,484,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1036:Kcnk10
|
UTSW |
12 |
98,462,445 (GRCm39) |
splice site |
probably benign |
|
R1398:Kcnk10
|
UTSW |
12 |
98,402,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R1482:Kcnk10
|
UTSW |
12 |
98,456,207 (GRCm39) |
missense |
probably damaging |
0.99 |
R1675:Kcnk10
|
UTSW |
12 |
98,462,547 (GRCm39) |
missense |
probably benign |
0.31 |
R2858:Kcnk10
|
UTSW |
12 |
98,401,548 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2871:Kcnk10
|
UTSW |
12 |
98,401,072 (GRCm39) |
missense |
probably benign |
0.41 |
R2871:Kcnk10
|
UTSW |
12 |
98,401,072 (GRCm39) |
missense |
probably benign |
0.41 |
R3736:Kcnk10
|
UTSW |
12 |
98,456,171 (GRCm39) |
missense |
probably benign |
0.31 |
R3845:Kcnk10
|
UTSW |
12 |
98,407,003 (GRCm39) |
missense |
probably benign |
0.11 |
R4077:Kcnk10
|
UTSW |
12 |
98,401,205 (GRCm39) |
missense |
probably benign |
0.03 |
R4541:Kcnk10
|
UTSW |
12 |
98,402,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R4605:Kcnk10
|
UTSW |
12 |
98,456,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Kcnk10
|
UTSW |
12 |
98,401,175 (GRCm39) |
missense |
probably benign |
0.00 |
R4842:Kcnk10
|
UTSW |
12 |
98,401,175 (GRCm39) |
missense |
probably benign |
0.00 |
R4886:Kcnk10
|
UTSW |
12 |
98,401,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4968:Kcnk10
|
UTSW |
12 |
98,401,161 (GRCm39) |
missense |
probably benign |
0.01 |
R4977:Kcnk10
|
UTSW |
12 |
98,406,946 (GRCm39) |
missense |
probably benign |
0.07 |
R5108:Kcnk10
|
UTSW |
12 |
98,401,560 (GRCm39) |
missense |
probably benign |
0.39 |
R5166:Kcnk10
|
UTSW |
12 |
98,401,254 (GRCm39) |
missense |
probably damaging |
0.98 |
R5936:Kcnk10
|
UTSW |
12 |
98,456,191 (GRCm39) |
missense |
probably benign |
0.12 |
R6193:Kcnk10
|
UTSW |
12 |
98,407,031 (GRCm39) |
missense |
probably benign |
0.07 |
R7107:Kcnk10
|
UTSW |
12 |
98,485,002 (GRCm39) |
nonsense |
probably null |
|
R7611:Kcnk10
|
UTSW |
12 |
98,484,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R7687:Kcnk10
|
UTSW |
12 |
98,401,355 (GRCm39) |
missense |
probably damaging |
0.97 |
R8225:Kcnk10
|
UTSW |
12 |
98,406,849 (GRCm39) |
critical splice donor site |
probably null |
|
R8270:Kcnk10
|
UTSW |
12 |
98,401,358 (GRCm39) |
missense |
|
|
R9040:Kcnk10
|
UTSW |
12 |
98,401,098 (GRCm39) |
missense |
probably benign |
0.00 |
R9094:Kcnk10
|
UTSW |
12 |
98,484,775 (GRCm39) |
missense |
probably benign |
0.01 |
X0067:Kcnk10
|
UTSW |
12 |
98,485,083 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2013-04-17 |