Incidental Mutation 'IGL00340:Hcn1'
| ID |
332346 |
| 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 # |
IGL00340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117739513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 92
(Q92K)
|
| 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: Q92K
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: Q92K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207599
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
G |
A |
5: 89,849,525 (GRCm39) |
H632Y |
probably damaging |
Het |
| Adgre5 |
T |
A |
8: 84,455,030 (GRCm39) |
M221L |
probably benign |
Het |
| Apba2 |
A |
T |
7: 64,386,689 (GRCm39) |
I439F |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,371,559 (GRCm39) |
N632K |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,256,417 (GRCm39) |
I60L |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 74,086,666 (GRCm39) |
S56P |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,751,295 (GRCm39) |
D925V |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,102,208 (GRCm39) |
T410A |
probably benign |
Het |
| Cimap3 |
A |
G |
3: 105,921,824 (GRCm39) |
V33A |
probably benign |
Het |
| Ddx60 |
G |
T |
8: 62,411,680 (GRCm39) |
D511Y |
probably damaging |
Het |
| Drc7 |
C |
A |
8: 95,782,629 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,118,933 (GRCm39) |
E1290G |
probably benign |
Het |
| Fam168b |
T |
C |
1: 34,875,883 (GRCm39) |
M1V |
probably null |
Het |
| Farsa |
A |
G |
8: 85,590,886 (GRCm39) |
K208R |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,425,368 (GRCm39) |
|
probably benign |
Het |
| Gm17535 |
A |
T |
9: 3,035,111 (GRCm39) |
H170L |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gm5852 |
T |
C |
3: 93,634,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb2 |
T |
C |
5: 137,528,968 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,494 (GRCm39) |
N143S |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,934,150 (GRCm39) |
I678V |
possibly damaging |
Het |
| Hnrnpl |
C |
A |
7: 28,512,798 (GRCm39) |
A118D |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,784,921 (GRCm39) |
P169S |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,481,904 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,598,051 (GRCm39) |
E57G |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,009 (GRCm39) |
I300T |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,433,053 (GRCm39) |
V1426A |
probably benign |
Het |
| Lrrc39 |
A |
G |
3: 116,364,630 (GRCm39) |
|
probably benign |
Het |
| Mamstr |
G |
A |
7: 45,293,709 (GRCm39) |
V262I |
probably benign |
Het |
| Mob1b |
A |
T |
5: 88,904,014 (GRCm39) |
T217S |
probably benign |
Het |
| Mocs3 |
G |
A |
2: 168,073,411 (GRCm39) |
R286H |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,693,443 (GRCm39) |
Q27L |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,640,981 (GRCm39) |
D506E |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,984,914 (GRCm39) |
I8T |
probably benign |
Het |
| Oma1 |
G |
T |
4: 103,176,565 (GRCm39) |
A110S |
probably benign |
Het |
| Or10a48 |
C |
T |
7: 108,424,280 (GRCm39) |
V309I |
probably benign |
Het |
| Or13a18 |
T |
A |
7: 140,190,666 (GRCm39) |
S196T |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,346 (GRCm39) |
Y131C |
probably damaging |
Het |
| Pde4a |
A |
C |
9: 21,122,357 (GRCm39) |
K694T |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,299,958 (GRCm39) |
|
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,830,578 (GRCm39) |
V187A |
probably damaging |
Het |
| Pigf |
C |
A |
17: 87,327,876 (GRCm39) |
L130F |
probably null |
Het |
| Pkd1 |
G |
T |
17: 24,799,069 (GRCm39) |
V2763L |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,051,107 (GRCm39) |
L230I |
probably damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,561,992 (GRCm39) |
Y76C |
probably damaging |
Het |
| Ppp6r3 |
C |
A |
19: 3,568,324 (GRCm39) |
G158V |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,698,924 (GRCm39) |
I1136V |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,412,790 (GRCm39) |
I1770V |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,070,185 (GRCm39) |
I148F |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,268,285 (GRCm39) |
Y239H |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,729 (GRCm39) |
Y412C |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,053 (GRCm39) |
I194V |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
| Tmem126a |
T |
C |
7: 90,101,963 (GRCm39) |
T79A |
probably benign |
Het |
| Trav9-2 |
A |
T |
14: 53,828,840 (GRCm39) |
Y70F |
probably benign |
Het |
| Tspear |
A |
G |
10: 77,709,070 (GRCm39) |
E432G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,435,580 (GRCm39) |
R403G |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,645,618 (GRCm39) |
S1431R |
possibly damaging |
Het |
| Usp24 |
G |
A |
4: 106,258,336 (GRCm39) |
C1578Y |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,489,652 (GRCm39) |
M473L |
probably benign |
Het |
| Xpot |
T |
A |
10: 121,441,549 (GRCm39) |
M559L |
probably benign |
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 |
|
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 |
|
|
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 |
2015-08-05 |
Incidental Mutation