Incidental Mutation 'R5040:Kcnh1'
| ID |
393147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh1
|
| Ensembl Gene |
ENSMUSG00000058248 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 1 |
| Synonyms |
ether a go-go, Eag1, Kv10.1 |
| MMRRC Submission |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191873082-192192467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 192187783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 748
(H748L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078470]
[ENSMUST00000110844]
[ENSMUST00000128619]
[ENSMUST00000151152]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078470
AA Change: H775L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: H775L
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
16 |
92 |
2.65e0 |
SMART |
|
PAC
|
94 |
136 |
3.67e-9 |
SMART |
|
Pfam:Ion_trans
|
217 |
510 |
2.2e-40 |
PFAM |
|
Pfam:Ion_trans_2
|
422 |
504 |
7e-14 |
PFAM |
|
cNMP
|
581 |
699 |
2.2e-21 |
SMART |
|
low complexity region
|
714 |
726 |
N/A |
INTRINSIC |
|
coiled coil region
|
928 |
958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110844
AA Change: H748L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: H748L
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
16 |
92 |
2.65e0 |
SMART |
|
PAC
|
94 |
136 |
3.67e-9 |
SMART |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
252 |
471 |
3.4e-27 |
PFAM |
|
Pfam:Ion_trans_2
|
395 |
477 |
3.7e-14 |
PFAM |
|
cNMP
|
554 |
672 |
2.2e-21 |
SMART |
|
low complexity region
|
687 |
699 |
N/A |
INTRINSIC |
|
coiled coil region
|
901 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128619
|
| SMART Domains |
Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
71 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
125 |
448 |
3.1e-60 |
PFAM |
|
transmembrane domain
|
475 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151152
|
| SMART Domains |
Protein: ENSMUSP00000141247
Gene: ENSMUSG00000058248
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1rgs_2
|
1 |
51 |
3e-6 |
SMART |
|
Blast:cNMP
|
1 |
55 |
4e-34 |
BLAST |
|
PDB:4F8A|A
|
1 |
60 |
1e-38 |
PDB |
|
| Meta Mutation Damage Score |
0.0807 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit a decreased depressive-like response during tail suspension testing. Mice homozygous for a different knock-out allele exhibit longer latency to move in haloperidol-treated mice and mild hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
probably benign |
Het |
|
| Other mutations in Kcnh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Kcnh1
|
APN |
1 |
192,101,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01675:Kcnh1
|
APN |
1 |
192,019,901 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01726:Kcnh1
|
APN |
1 |
192,188,164 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02006:Kcnh1
|
APN |
1 |
191,873,323 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02428:Kcnh1
|
APN |
1 |
192,019,851 (GRCm39) |
nonsense |
probably null |
|
|
IGL02447:Kcnh1
|
APN |
1 |
191,907,224 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02512:Kcnh1
|
APN |
1 |
192,187,689 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02748:Kcnh1
|
APN |
1 |
191,903,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02879:Kcnh1
|
APN |
1 |
191,959,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02926:Kcnh1
|
APN |
1 |
191,959,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Kcnh1
|
APN |
1 |
192,117,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03078:Kcnh1
|
APN |
1 |
192,117,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03148:Kcnh1
|
APN |
1 |
191,959,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Kcnh1
|
UTSW |
1 |
192,019,995 (GRCm39) |
nonsense |
probably null |
|
|
PIT4449001:Kcnh1
|
UTSW |
1 |
192,100,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Kcnh1
|
UTSW |
1 |
191,959,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Kcnh1
|
UTSW |
1 |
191,959,112 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Kcnh1
|
UTSW |
1 |
192,187,648 (GRCm39) |
missense |
probably benign |
|
|
R0240:Kcnh1
|
UTSW |
1 |
192,187,648 (GRCm39) |
missense |
probably benign |
|
|
R0422:Kcnh1
|
UTSW |
1 |
192,019,888 (GRCm39) |
missense |
probably benign |
|
|
R0510:Kcnh1
|
UTSW |
1 |
192,101,249 (GRCm39) |
splice site |
probably benign |
|
|
R0612:Kcnh1
|
UTSW |
1 |
191,959,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Kcnh1
|
UTSW |
1 |
192,188,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0838:Kcnh1
|
UTSW |
1 |
192,095,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1303:Kcnh1
|
UTSW |
1 |
191,959,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1389:Kcnh1
|
UTSW |
1 |
192,188,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Kcnh1
|
UTSW |
1 |
192,095,376 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1997:Kcnh1
|
UTSW |
1 |
191,959,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2254:Kcnh1
|
UTSW |
1 |
192,187,722 (GRCm39) |
splice site |
probably null |
|
|
R2274:Kcnh1
|
UTSW |
1 |
192,019,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Kcnh1
|
UTSW |
1 |
192,019,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3029:Kcnh1
|
UTSW |
1 |
192,188,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3427:Kcnh1
|
UTSW |
1 |
191,924,238 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3552:Kcnh1
|
UTSW |
1 |
191,921,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3718:Kcnh1
|
UTSW |
1 |
191,921,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Kcnh1
|
UTSW |
1 |
192,188,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4009:Kcnh1
|
UTSW |
1 |
191,959,448 (GRCm39) |
missense |
probably benign |
|
|
R4027:Kcnh1
|
UTSW |
1 |
191,959,007 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4453:Kcnh1
|
UTSW |
1 |
192,187,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4717:Kcnh1
|
UTSW |
1 |
191,959,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5014:Kcnh1
|
UTSW |
1 |
191,959,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5110:Kcnh1
|
UTSW |
1 |
192,020,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5190:Kcnh1
|
UTSW |
1 |
192,187,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5244:Kcnh1
|
UTSW |
1 |
191,907,184 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5383:Kcnh1
|
UTSW |
1 |
192,187,999 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5926:Kcnh1
|
UTSW |
1 |
192,095,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6182:Kcnh1
|
UTSW |
1 |
191,873,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6516:Kcnh1
|
UTSW |
1 |
192,101,089 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6567:Kcnh1
|
UTSW |
1 |
191,959,412 (GRCm39) |
missense |
probably benign |
|
|
R6655:Kcnh1
|
UTSW |
1 |
192,095,391 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6715:Kcnh1
|
UTSW |
1 |
192,019,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6823:Kcnh1
|
UTSW |
1 |
192,187,597 (GRCm39) |
makesense |
probably null |
|
|
R6972:Kcnh1
|
UTSW |
1 |
191,959,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Kcnh1
|
UTSW |
1 |
192,019,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7219:Kcnh1
|
UTSW |
1 |
192,187,945 (GRCm39) |
missense |
probably benign |
|
|
R7749:Kcnh1
|
UTSW |
1 |
191,959,447 (GRCm39) |
missense |
probably benign |
|
|
R7799:Kcnh1
|
UTSW |
1 |
192,117,183 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7862:Kcnh1
|
UTSW |
1 |
191,873,167 (GRCm39) |
start gained |
probably benign |
|
|
R8068:Kcnh1
|
UTSW |
1 |
191,924,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8375:Kcnh1
|
UTSW |
1 |
192,117,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Kcnh1
|
UTSW |
1 |
191,921,031 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8734:Kcnh1
|
UTSW |
1 |
192,188,320 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8809:Kcnh1
|
UTSW |
1 |
191,903,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Kcnh1
|
UTSW |
1 |
192,188,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9218:Kcnh1
|
UTSW |
1 |
192,135,938 (GRCm39) |
missense |
unknown |
|
|
R9431:Kcnh1
|
UTSW |
1 |
192,101,123 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9465:Kcnh1
|
UTSW |
1 |
191,924,233 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Kcnh1
|
UTSW |
1 |
192,101,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCGGAAGATCAGCGAC -3'
(R):5'- CATCTTTGAAACGGGCCCAG -3'
Sequencing Primer
(F):5'- TCAGCGACGTGAAACGAG -3'
(R):5'- CAGCCTTTGCGCTTGGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation