Incidental Mutation 'R1290:Kcnh3'
| ID |
150769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh3
|
| Ensembl Gene |
ENSMUSG00000037579 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 3 |
| Synonyms |
Melk2, C030044P22Rik, Elk2, ether a go-go like |
| MMRRC Submission |
039356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1290 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99122742-99140698 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 99125001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041415]
|
| AlphaFold |
Q9WVJ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041415
|
| SMART Domains |
Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
20 |
88 |
3.94e0 |
SMART |
|
PAC
|
94 |
136 |
9.92e-6 |
SMART |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
224 |
523 |
3.8e-34 |
PFAM |
|
Pfam:Ion_trans_2
|
453 |
517 |
1e-12 |
PFAM |
|
cNMP
|
593 |
708 |
2.04e-16 |
SMART |
|
low complexity region
|
781 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
886 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1062 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228983
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. An increase in cognitive function was observed when this gene was knocked out, while deletion of the gene resulted in hippocampal hyperexcitability and epilepsy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
| Borcs5 |
A |
G |
6: 134,621,331 (GRCm39) |
D34G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,531,100 (GRCm39) |
L99Q |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
| Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,402,557 (GRCm39) |
S20P |
possibly damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,051,725 (GRCm39) |
N238I |
probably damaging |
Het |
| Neurod2 |
A |
T |
11: 98,218,114 (GRCm39) |
V350E |
possibly damaging |
Het |
| P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,411 (GRCm39) |
Q194R |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
probably benign |
Het |
|
| Other mutations in Kcnh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Kcnh3
|
APN |
15 |
99,140,354 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL00911:Kcnh3
|
APN |
15 |
99,130,882 (GRCm39) |
nonsense |
probably null |
|
|
IGL01099:Kcnh3
|
APN |
15 |
99,137,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01350:Kcnh3
|
APN |
15 |
99,139,873 (GRCm39) |
missense |
probably benign |
|
|
IGL01375:Kcnh3
|
APN |
15 |
99,124,874 (GRCm39) |
nonsense |
probably null |
|
|
IGL01611:Kcnh3
|
APN |
15 |
99,127,383 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01920:Kcnh3
|
APN |
15 |
99,131,258 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02282:Kcnh3
|
APN |
15 |
99,125,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02581:Kcnh3
|
APN |
15 |
99,136,052 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02889:Kcnh3
|
APN |
15 |
99,124,991 (GRCm39) |
missense |
probably null |
0.82 |
|
R0427:Kcnh3
|
UTSW |
15 |
99,131,180 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0532:Kcnh3
|
UTSW |
15 |
99,130,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Kcnh3
|
UTSW |
15 |
99,138,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0552:Kcnh3
|
UTSW |
15 |
99,127,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1235:Kcnh3
|
UTSW |
15 |
99,139,984 (GRCm39) |
splice site |
probably null |
|
|
R1499:Kcnh3
|
UTSW |
15 |
99,137,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1517:Kcnh3
|
UTSW |
15 |
99,136,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1706:Kcnh3
|
UTSW |
15 |
99,135,959 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1973:Kcnh3
|
UTSW |
15 |
99,127,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Kcnh3
|
UTSW |
15 |
99,139,873 (GRCm39) |
missense |
probably benign |
|
|
R3196:Kcnh3
|
UTSW |
15 |
99,131,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Kcnh3
|
UTSW |
15 |
99,130,646 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4619:Kcnh3
|
UTSW |
15 |
99,131,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Kcnh3
|
UTSW |
15 |
99,131,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Kcnh3
|
UTSW |
15 |
99,124,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Kcnh3
|
UTSW |
15 |
99,139,826 (GRCm39) |
missense |
probably benign |
|
|
R4853:Kcnh3
|
UTSW |
15 |
99,139,970 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4869:Kcnh3
|
UTSW |
15 |
99,139,913 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4991:Kcnh3
|
UTSW |
15 |
99,130,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5004:Kcnh3
|
UTSW |
15 |
99,124,383 (GRCm39) |
nonsense |
probably null |
|
|
R5296:Kcnh3
|
UTSW |
15 |
99,139,820 (GRCm39) |
missense |
probably null |
0.92 |
|
R5317:Kcnh3
|
UTSW |
15 |
99,125,822 (GRCm39) |
missense |
probably benign |
|
|
R5338:Kcnh3
|
UTSW |
15 |
99,140,275 (GRCm39) |
nonsense |
probably null |
|
|
R5658:Kcnh3
|
UTSW |
15 |
99,139,957 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5794:Kcnh3
|
UTSW |
15 |
99,130,855 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5934:Kcnh3
|
UTSW |
15 |
99,124,414 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6303:Kcnh3
|
UTSW |
15 |
99,124,919 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6304:Kcnh3
|
UTSW |
15 |
99,124,919 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6385:Kcnh3
|
UTSW |
15 |
99,125,822 (GRCm39) |
missense |
probably benign |
|
|
R6466:Kcnh3
|
UTSW |
15 |
99,136,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6640:Kcnh3
|
UTSW |
15 |
99,139,649 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6879:Kcnh3
|
UTSW |
15 |
99,136,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Kcnh3
|
UTSW |
15 |
99,126,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7770:Kcnh3
|
UTSW |
15 |
99,131,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Kcnh3
|
UTSW |
15 |
99,127,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Kcnh3
|
UTSW |
15 |
99,124,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8486:Kcnh3
|
UTSW |
15 |
99,136,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Kcnh3
|
UTSW |
15 |
99,139,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Kcnh3
|
UTSW |
15 |
99,130,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Kcnh3
|
UTSW |
15 |
99,137,809 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0028:Kcnh3
|
UTSW |
15 |
99,139,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGTCTGACAGTCATGTCTGCTC -3'
(R):5'- CTCATTCGTCAGTGGGGAAGAAAGG -3'
Sequencing Primer
(F):5'- TTCTTAACTTAGGCAGGGCAAG -3'
(R):5'- GGTGAAGTTTACTTGACAACTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation