Incidental Mutation 'IGL02491:Hcn1'
ID |
295653 |
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 # |
IGL02491
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117946576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 317
(D317G)
|
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 |
unknown
Transcript: ENSMUST00000006991
AA Change: D317G
|
SMART Domains |
Protein: ENSMUSP00000006991 Gene: ENSMUSG00000021730 AA Change: D317G
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,067,794 (GRCm39) |
|
probably benign |
Het |
Acacb |
T |
A |
5: 114,330,166 (GRCm39) |
I443N |
probably damaging |
Het |
C1qtnf3 |
A |
T |
15: 10,972,067 (GRCm39) |
I118F |
possibly damaging |
Het |
Carmil3 |
C |
T |
14: 55,741,974 (GRCm39) |
A1148V |
probably benign |
Het |
Ccdc62 |
A |
T |
5: 124,099,378 (GRCm39) |
S677C |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,181 (GRCm39) |
|
probably benign |
Het |
Cpsf7 |
A |
G |
19: 10,517,001 (GRCm39) |
I368V |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,428,050 (GRCm39) |
S2934P |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,777,511 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
G |
2: 13,326,039 (GRCm39) |
Y2709H |
probably damaging |
Het |
Cyp2d12 |
T |
A |
15: 82,442,682 (GRCm39) |
L375Q |
possibly damaging |
Het |
Etv4 |
A |
T |
11: 101,674,791 (GRCm39) |
|
probably null |
Het |
Exph5 |
T |
A |
9: 53,286,343 (GRCm39) |
D1141E |
possibly damaging |
Het |
Fbxo16 |
T |
A |
14: 65,558,736 (GRCm39) |
H298Q |
probably benign |
Het |
Fbxw21 |
T |
A |
9: 108,972,887 (GRCm39) |
Y349F |
probably benign |
Het |
Foxs1 |
G |
A |
2: 152,774,721 (GRCm39) |
R111C |
probably damaging |
Het |
Galnt15 |
T |
A |
14: 31,778,273 (GRCm39) |
L436Q |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,250,979 (GRCm39) |
|
probably benign |
Het |
Gm8237 |
A |
T |
14: 5,863,577 (GRCm38) |
C29* |
probably null |
Het |
Itgam |
A |
G |
7: 127,715,190 (GRCm39) |
N877D |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,361,757 (GRCm39) |
R1047G |
probably damaging |
Het |
Klhdc3 |
T |
C |
17: 46,988,226 (GRCm39) |
R180G |
possibly damaging |
Het |
Lpcat2 |
T |
C |
8: 93,600,879 (GRCm39) |
V241A |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,170,682 (GRCm39) |
N24S |
probably null |
Het |
Mprip |
A |
G |
11: 59,660,857 (GRCm39) |
T967A |
probably benign |
Het |
Mtf1 |
T |
C |
4: 124,732,372 (GRCm39) |
F477L |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,159,748 (GRCm39) |
E393G |
possibly damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,358 (GRCm39) |
L229H |
probably damaging |
Het |
Or2at1 |
A |
G |
7: 99,416,540 (GRCm39) |
E57G |
possibly damaging |
Het |
Or5e1 |
A |
G |
7: 108,354,321 (GRCm39) |
K86R |
probably damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,735 (GRCm39) |
D552V |
probably damaging |
Het |
Pglyrp3 |
C |
T |
3: 91,921,944 (GRCm39) |
S4F |
possibly damaging |
Het |
Pramel13 |
A |
T |
4: 144,121,322 (GRCm39) |
M234K |
probably damaging |
Het |
Prss27 |
A |
T |
17: 24,263,229 (GRCm39) |
|
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,753,549 (GRCm39) |
S51P |
probably damaging |
Het |
Slc6a4 |
A |
G |
11: 76,918,034 (GRCm39) |
Y592C |
probably damaging |
Het |
Slc7a13 |
T |
A |
4: 19,841,404 (GRCm39) |
V417D |
probably damaging |
Het |
Spring1 |
T |
C |
5: 118,397,160 (GRCm39) |
Y130H |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,118,953 (GRCm39) |
T5857A |
probably benign |
Het |
Thap1 |
A |
C |
8: 26,650,885 (GRCm39) |
S52R |
probably damaging |
Het |
Thsd4 |
T |
C |
9: 59,907,301 (GRCm39) |
N158S |
probably damaging |
Het |
Tmem147 |
A |
T |
7: 30,427,626 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
G |
A |
2: 13,521,483 (GRCm39) |
A311V |
probably benign |
Het |
U2surp |
T |
A |
9: 95,372,273 (GRCm39) |
R296S |
probably damaging |
Het |
Upf2 |
A |
G |
2: 6,030,975 (GRCm39) |
D805G |
unknown |
Het |
Usp34 |
T |
A |
11: 23,382,630 (GRCm39) |
H2057Q |
probably damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,816,400 (GRCm39) |
D41V |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,487,703 (GRCm39) |
L192* |
probably null |
Het |
Vnn3 |
T |
A |
10: 23,741,816 (GRCm39) |
S374T |
probably benign |
Het |
Wdr62 |
A |
C |
7: 29,942,184 (GRCm39) |
D1089E |
probably benign |
Het |
Xdh |
T |
A |
17: 74,193,459 (GRCm39) |
D1279V |
probably damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp518b |
A |
G |
5: 38,831,123 (GRCm39) |
I294T |
possibly damaging |
Het |
Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |