Incidental Mutation 'IGL02149:Kcnk10'
| ID |
281927 |
| 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 # |
IGL02149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
98395691-98544472 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 98485099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110113]
[ENSMUST00000221240]
[ENSMUST00000221305]
|
| AlphaFold |
Q8BUW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110113
|
| SMART Domains |
Protein: ENSMUSP00000105740
Gene: ENSMUSG00000033854
| 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 benign
Transcript: ENSMUST00000221240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221305
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
| AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
| B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
| Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
| Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
| Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
| Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
| Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
| Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
| Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
| Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
| Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
| Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
| Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
| Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
probably benign |
Het |
|
| Other mutations in Kcnk10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Kcnk10
|
APN |
12 |
98,484,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01409:Kcnk10
|
APN |
12 |
98,456,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation