Incidental Mutation 'IGL01723:Hcn1'
| ID |
105162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 118112591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 852
(S852R)
|
| 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 damaging
Transcript: ENSMUST00000006991
AA Change: S852R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: S852R
| 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 |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,327 (GRCm39) |
A705V |
probably benign |
Het |
| Abcc10 |
A |
T |
17: 46,624,671 (GRCm39) |
C728S |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,144,780 (GRCm39) |
S1316P |
possibly damaging |
Het |
| Cd86 |
A |
G |
16: 36,427,486 (GRCm39) |
L281S |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,634 (GRCm39) |
P1170S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,280,254 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,504,091 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,990,363 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,442 (GRCm39) |
I257N |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,225,038 (GRCm39) |
L593* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,927,445 (GRCm39) |
L1367S |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,567 (GRCm39) |
V728M |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,363,060 (GRCm39) |
V447M |
probably damaging |
Het |
| Epx |
C |
T |
11: 87,760,228 (GRCm39) |
R462H |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,332 (GRCm39) |
T41A |
probably damaging |
Het |
| Fh1 |
G |
T |
1: 175,429,108 (GRCm39) |
A469D |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,860,233 (GRCm39) |
G228S |
possibly damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,711,981 (GRCm39) |
E614G |
possibly damaging |
Het |
| Mettl9 |
T |
C |
7: 120,651,492 (GRCm39) |
I180T |
possibly damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,415 (GRCm39) |
T330A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,534 (GRCm39) |
M938V |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,260,045 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,364,555 (GRCm39) |
T1283I |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,309,898 (GRCm39) |
D387G |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,452 (GRCm39) |
D191V |
probably damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,965,822 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,254,333 (GRCm39) |
R832H |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,161,910 (GRCm39) |
S108R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,480,456 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
T |
11: 53,879,671 (GRCm39) |
V463M |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,915 (GRCm39) |
H326L |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,899,715 (GRCm39) |
M188K |
possibly 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 |
|
|
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 |
|
|
R8083:Hcn1
|
UTSW |
13 |
118,112,296 (GRCm39) |
small insertion |
probably benign |
|
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation