Incidental Mutation 'R8083:Hcn1'
| ID |
629474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn1
|
| Ensembl Gene |
ENSMUSG00000021730 |
| Gene Name |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
| Synonyms |
C630013B14Rik, HAC2, hyperpolarization-activated, cyclic nucleotide-gated K+ 1, Bcng1 |
| MMRRC Submission |
067516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8083 (G1)
|
| Quality Score |
128.467 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GCAACAACA to GCAACAACAACA
at 118112296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006991]
|
| AlphaFold |
O88704 |
| PDB Structure |
Tetramerization dynamics of the C-terminus underlies isoform-specific cAMP-gating in HCN channels [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006991
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_N
|
87 |
130 |
8.2e-24 |
PFAM |
|
Pfam:Ion_trans
|
131 |
394 |
2.1e-23 |
PFAM |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
407 |
439 |
4e-13 |
BLAST |
|
cNMP
|
464 |
580 |
1.95e-22 |
SMART |
|
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
886 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal. Mice homozygous for another targeted knock-out exhibit deficit in hyperpolarization-activated currents and cold allodynia following partial nerve ligation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
G |
2: 152,282,987 (GRCm39) |
E255G |
possibly damaging |
Het |
| Abcg5 |
A |
T |
17: 84,965,971 (GRCm39) |
L635Q |
probably damaging |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,711 (GRCm39) |
V126M |
possibly damaging |
Het |
| Apobec1 |
G |
A |
6: 122,555,888 (GRCm39) |
P190S |
probably damaging |
Het |
| Arel1 |
A |
T |
12: 84,987,136 (GRCm39) |
H93Q |
probably benign |
Het |
| Bpifa2 |
T |
G |
2: 153,852,412 (GRCm39) |
V96G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,023,529 (GRCm39) |
V923I |
possibly damaging |
Het |
| Caprin2 |
A |
C |
6: 148,744,346 (GRCm39) |
Y1026* |
probably null |
Het |
| Cdk8 |
T |
G |
5: 146,205,100 (GRCm39) |
W34G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,000,058 (GRCm39) |
Q28L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,971,957 (GRCm39) |
E629G |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,691,630 (GRCm39) |
C255S |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,294,427 (GRCm39) |
F445L |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,750,698 (GRCm39) |
I140L |
probably benign |
Het |
| Cyp2b23 |
C |
A |
7: 26,385,828 (GRCm39) |
A10S |
possibly damaging |
Het |
| Eci3 |
G |
T |
13: 35,140,873 (GRCm39) |
T103K |
probably benign |
Het |
| Eri3 |
T |
A |
4: 117,450,359 (GRCm39) |
M253K |
probably damaging |
Het |
| Gm21103 |
C |
T |
14: 17,482,895 (GRCm39) |
V169M |
possibly damaging |
Het |
| Gm6594 |
G |
A |
17: 82,846,897 (GRCm39) |
A71T |
probably benign |
Het |
| Gns |
T |
C |
10: 121,214,008 (GRCm39) |
S228P |
probably damaging |
Het |
| Hbegf |
A |
T |
18: 36,648,224 (GRCm39) |
S46T |
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,057,875 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,524,320 (GRCm39) |
D846G |
probably benign |
Het |
| Nt5dc2 |
A |
G |
14: 30,856,783 (GRCm39) |
Y103C |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,943,572 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,970 (GRCm39) |
I146V |
probably benign |
Het |
| Rangap1 |
A |
G |
15: 81,603,101 (GRCm39) |
I108T |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,409 (GRCm39) |
Y794H |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,892,052 (GRCm39) |
S192P |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,448,166 (GRCm39) |
D3404V |
possibly damaging |
Het |
| Setd5 |
G |
T |
6: 113,091,971 (GRCm39) |
G264V |
probably damaging |
Het |
| Tagln2 |
A |
T |
1: 172,332,766 (GRCm39) |
I18F |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,591,807 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
C |
A |
2: 94,204,909 (GRCm39) |
V338F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,339,043 (GRCm39) |
M428K |
possibly damaging |
Het |
| Zfp503 |
A |
T |
14: 22,036,132 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,905 (GRCm39) |
T218A |
possibly damaging |
Het |
| Zp3 |
A |
C |
5: 136,013,376 (GRCm39) |
D236A |
probably damaging |
Het |
|
| Other mutations in Hcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Hcn1
|
APN |
13 |
118,112,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00340:Hcn1
|
APN |
13 |
117,739,513 (GRCm39) |
missense |
unknown |
|
|
IGL01161:Hcn1
|
APN |
13 |
117,793,458 (GRCm39) |
missense |
unknown |
|
|
IGL01723:Hcn1
|
APN |
13 |
118,112,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02324:Hcn1
|
APN |
13 |
118,039,422 (GRCm39) |
missense |
unknown |
|
|
IGL02491:Hcn1
|
APN |
13 |
117,946,576 (GRCm39) |
missense |
unknown |
|
|
Thump
|
UTSW |
13 |
118,010,441 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Hcn1
|
UTSW |
13 |
118,112,344 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4504001:Hcn1
|
UTSW |
13 |
118,112,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0420:Hcn1
|
UTSW |
13 |
118,111,911 (GRCm39) |
missense |
unknown |
|
|
R1546:Hcn1
|
UTSW |
13 |
118,112,302 (GRCm39) |
small insertion |
probably benign |
|
|
R1558:Hcn1
|
UTSW |
13 |
118,112,112 (GRCm39) |
missense |
unknown |
|
|
R1659:Hcn1
|
UTSW |
13 |
118,112,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Hcn1
|
UTSW |
13 |
117,739,609 (GRCm39) |
missense |
unknown |
|
|
R1766:Hcn1
|
UTSW |
13 |
117,793,270 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1842:Hcn1
|
UTSW |
13 |
118,112,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2051:Hcn1
|
UTSW |
13 |
118,112,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3605:Hcn1
|
UTSW |
13 |
118,111,788 (GRCm39) |
missense |
unknown |
|
|
R4259:Hcn1
|
UTSW |
13 |
118,111,884 (GRCm39) |
missense |
unknown |
|
|
R4284:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R4637:Hcn1
|
UTSW |
13 |
118,112,249 (GRCm39) |
missense |
unknown |
|
|
R4679:Hcn1
|
UTSW |
13 |
117,793,551 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4777:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R4839:Hcn1
|
UTSW |
13 |
118,062,246 (GRCm39) |
missense |
unknown |
|
|
R4883:Hcn1
|
UTSW |
13 |
118,039,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5015:Hcn1
|
UTSW |
13 |
117,739,556 (GRCm39) |
missense |
unknown |
|
|
R5060:Hcn1
|
UTSW |
13 |
118,010,441 (GRCm39) |
nonsense |
probably null |
|
|
R5748:Hcn1
|
UTSW |
13 |
118,112,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5823:Hcn1
|
UTSW |
13 |
117,739,388 (GRCm39) |
missense |
unknown |
|
|
R6900:Hcn1
|
UTSW |
13 |
117,793,363 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7045:Hcn1
|
UTSW |
13 |
118,111,998 (GRCm39) |
missense |
unknown |
|
|
R7049:Hcn1
|
UTSW |
13 |
118,111,998 (GRCm39) |
missense |
unknown |
|
|
R7163:Hcn1
|
UTSW |
13 |
118,062,083 (GRCm39) |
missense |
unknown |
|
|
R7534:Hcn1
|
UTSW |
13 |
118,111,961 (GRCm39) |
missense |
unknown |
|
|
R7722:Hcn1
|
UTSW |
13 |
118,039,314 (GRCm39) |
missense |
unknown |
|
|
R7984:Hcn1
|
UTSW |
13 |
118,112,609 (GRCm39) |
nonsense |
probably null |
|
|
R8171:Hcn1
|
UTSW |
13 |
117,739,270 (GRCm39) |
missense |
unknown |
|
|
R8223:Hcn1
|
UTSW |
13 |
118,010,406 (GRCm39) |
missense |
unknown |
|
|
R8240:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R8853:Hcn1
|
UTSW |
13 |
118,112,269 (GRCm39) |
small deletion |
probably benign |
|
|
R9054:Hcn1
|
UTSW |
13 |
118,108,171 (GRCm39) |
missense |
unknown |
|
|
R9224:Hcn1
|
UTSW |
13 |
118,062,254 (GRCm39) |
missense |
unknown |
|
|
R9241:Hcn1
|
UTSW |
13 |
117,793,249 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9324:Hcn1
|
UTSW |
13 |
118,111,901 (GRCm39) |
missense |
unknown |
|
|
R9632:Hcn1
|
UTSW |
13 |
118,010,522 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9758:Hcn1
|
UTSW |
13 |
118,112,305 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGCAGTCCTCCTATACAG -3'
(R):5'- TCTGGAGATCAAAGTGGAGACC -3'
Sequencing Primer
(F):5'- TCCTATACAGAGCCCCCTGG -3'
(R):5'- TCAAAGTGGAGACCTCATGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation