Incidental Mutation 'R6466:Kcnh3'
| ID |
516602 |
| 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 |
044599-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99122742-99140698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99136124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 707
(L707P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041190]
[ENSMUST00000041415]
[ENSMUST00000163506]
|
| AlphaFold |
Q9WVJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041190
|
| SMART Domains |
Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
113 |
N/A |
INTRINSIC |
|
Pfam:MCRS_N
|
134 |
331 |
5.7e-98 |
PFAM |
|
FHA
|
362 |
419 |
2.04e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041415
AA Change: L707P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: L707P
| 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 |
probably benign
Transcript: ENSMUST00000163506
|
| SMART Domains |
Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
100 |
N/A |
INTRINSIC |
|
Pfam:MCRS_N
|
121 |
318 |
2.4e-97 |
PFAM |
|
FHA
|
349 |
406 |
2.04e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230973
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| Validation Efficiency |
98% (56/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
A |
T |
8: 121,335,735 (GRCm39) |
D69E |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,723,220 (GRCm39) |
|
probably null |
Het |
| Ahr |
A |
T |
12: 35,554,031 (GRCm39) |
V696E |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,376,792 (GRCm39) |
T2007A |
probably benign |
Het |
| Arid1b |
T |
C |
17: 5,377,953 (GRCm39) |
F753S |
probably damaging |
Het |
| Bpifb3 |
G |
T |
2: 153,764,108 (GRCm39) |
K105N |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,680,822 (GRCm39) |
C331R |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,542 (GRCm39) |
Y82* |
probably null |
Het |
| Clcn3 |
A |
C |
8: 61,382,595 (GRCm39) |
V331G |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,413,748 (GRCm39) |
D1022E |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,430,241 (GRCm39) |
T106S |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,330,711 (GRCm39) |
D256V |
probably damaging |
Het |
| Firrm |
G |
T |
1: 163,781,734 (GRCm39) |
R898S |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,437,149 (GRCm39) |
|
probably benign |
Het |
| Fut11 |
C |
T |
14: 20,745,377 (GRCm39) |
R103W |
probably damaging |
Het |
| Gas2l2 |
A |
C |
11: 83,320,179 (GRCm39) |
S26A |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,843,221 (GRCm39) |
I29N |
probably benign |
Het |
| Grem2 |
A |
G |
1: 174,664,450 (GRCm39) |
V133A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,233,600 (GRCm39) |
S1813T |
possibly damaging |
Het |
| Igkv3-2 |
T |
C |
6: 70,676,023 (GRCm39) |
F111L |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,878 (GRCm39) |
Q68R |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,354 (GRCm39) |
I146V |
probably damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,665 (GRCm39) |
I101F |
probably damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,399 (GRCm39) |
Y281H |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lmbr1 |
C |
T |
5: 29,583,166 (GRCm39) |
A9T |
probably benign |
Het |
| Map10 |
G |
T |
8: 126,399,123 (GRCm39) |
E839* |
probably null |
Het |
| Nectin4 |
C |
A |
1: 171,214,321 (GRCm39) |
A492D |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,140 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
A |
G |
7: 107,413,901 (GRCm39) |
T37A |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,084 (GRCm39) |
Y2608H |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,749,839 (GRCm39) |
S42P |
probably benign |
Het |
| Ppp2r1a |
G |
T |
17: 21,180,893 (GRCm39) |
G432* |
probably null |
Het |
| Qki |
T |
C |
17: 10,434,394 (GRCm39) |
E315G |
probably benign |
Het |
| Rfx2 |
C |
T |
17: 57,091,397 (GRCm39) |
V354I |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,109 (GRCm39) |
Y1001C |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,609,007 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
G |
14: 70,547,335 (GRCm39) |
I337T |
probably damaging |
Het |
| Slc3a2 |
G |
T |
19: 8,686,683 (GRCm39) |
L76M |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,183,260 (GRCm39) |
T555A |
probably benign |
Het |
| Sprr2e |
A |
T |
3: 92,260,341 (GRCm39) |
K57N |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,990,675 (GRCm39) |
T1886A |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,689,098 (GRCm39) |
I2147N |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,950,328 (GRCm39) |
G654W |
probably damaging |
Het |
| Tigd5 |
A |
G |
15: 75,782,352 (GRCm39) |
Y238C |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,010,493 (GRCm39) |
F126S |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,582,108 (GRCm39) |
P52Q |
probably damaging |
Het |
| Ugp2 |
A |
T |
11: 21,278,883 (GRCm39) |
S434R |
probably benign |
Het |
| Vmn2r69 |
A |
C |
7: 85,056,378 (GRCm39) |
F587V |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,784,065 (GRCm39) |
N3872I |
possibly damaging |
Het |
| Wdfy2 |
A |
G |
14: 63,186,115 (GRCm39) |
Y250C |
probably damaging |
Het |
| Zbtb16 |
T |
C |
9: 48,576,619 (GRCm39) |
D487G |
possibly damaging |
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 |
|
|
R1290:Kcnh3
|
UTSW |
15 |
99,125,001 (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 |
|
|
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'- TGGTTTCCTTTACCCAGGGAAG -3'
(R):5'- GGACTGACTTCCAAATCACAGAG -3'
Sequencing Primer
(F):5'- GACATACTGCGTCCTACA -3'
(R):5'- CTCACAGTGACGCCTGTAATTAGAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation