Incidental Mutation 'R7984:Hcn1'
| ID |
651389 |
| 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 |
046025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
117738856-118117564 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 118112609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 858
(Q858*)
|
| 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 null
Transcript: ENSMUST00000006991
AA Change: Q858*
|
| SMART Domains |
Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: Q858*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1e1 |
G |
T |
13: 4,645,679 (GRCm39) |
H226N |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,686,764 (GRCm39) |
D283G |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,767,068 (GRCm39) |
D436G |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,578,982 (GRCm39) |
R314Q |
probably damaging |
Het |
| Apbb2 |
T |
C |
5: 66,465,035 (GRCm39) |
E629G |
probably damaging |
Het |
| Card9 |
T |
G |
2: 26,246,784 (GRCm39) |
I355L |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,598 (GRCm39) |
P1158S |
probably benign |
Het |
| Cpne7 |
T |
G |
8: 123,846,461 (GRCm39) |
V91G |
possibly damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,472 (GRCm39) |
T106S |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,989,772 (GRCm39) |
F3248Y |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,377 (GRCm39) |
D2264E |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,877,303 (GRCm39) |
N1078K |
unknown |
Het |
| Emc1 |
T |
A |
4: 139,102,760 (GRCm39) |
L973H |
probably damaging |
Het |
| Fer1l5 |
T |
A |
1: 36,447,702 (GRCm39) |
L955Q |
possibly damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,333,671 (GRCm39) |
N273S |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,588 (GRCm39) |
Y137N |
probably damaging |
Het |
| Grik4 |
G |
A |
9: 42,582,557 (GRCm39) |
Q130* |
probably null |
Het |
| Heg1 |
A |
C |
16: 33,583,945 (GRCm39) |
S76R |
possibly damaging |
Het |
| Ikbke |
T |
A |
1: 131,203,523 (GRCm39) |
E50V |
probably null |
Het |
| Itga5 |
G |
A |
15: 103,264,379 (GRCm39) |
P297S |
probably damaging |
Het |
| Kcng1 |
C |
A |
2: 168,104,406 (GRCm39) |
R480L |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,956,752 (GRCm39) |
E1236* |
probably null |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,662,342 (GRCm39) |
F894L |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,950,477 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
G |
7: 80,003,056 (GRCm39) |
T1018P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,937 (GRCm39) |
Q772R |
possibly damaging |
Het |
| Meioc |
T |
A |
11: 102,565,432 (GRCm39) |
N293K |
possibly damaging |
Het |
| Mrps24 |
A |
T |
11: 5,657,495 (GRCm39) |
C34S |
possibly damaging |
Het |
| Nek1 |
G |
T |
8: 61,574,087 (GRCm39) |
E1112* |
probably null |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,775 (GRCm39) |
S317G |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,997,151 (GRCm39) |
Q1492K |
possibly damaging |
Het |
| Or2a57 |
T |
G |
6: 43,212,730 (GRCm39) |
S63A |
probably damaging |
Het |
| Or52e4 |
T |
C |
7: 104,705,639 (GRCm39) |
F62S |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,941 (GRCm39) |
F69L |
probably benign |
Het |
| Or8b36 |
A |
G |
9: 37,937,155 (GRCm39) |
T18A |
probably damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,969 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9s23 |
A |
G |
1: 92,501,144 (GRCm39) |
I84V |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,125,022 (GRCm39) |
I218F |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,566,698 (GRCm39) |
Q11* |
probably null |
Het |
| Pcdhga3 |
C |
A |
18: 37,809,549 (GRCm39) |
D667E |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 126,485,865 (GRCm39) |
E1911A |
probably benign |
Het |
| Pibf1 |
T |
C |
14: 99,459,063 (GRCm39) |
L678P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
| Prl2c1 |
G |
A |
13: 28,039,310 (GRCm39) |
|
probably null |
Het |
| Rnf112 |
A |
G |
11: 61,340,306 (GRCm39) |
V656A |
possibly damaging |
Het |
| Siglecf |
A |
C |
7: 43,004,655 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,856,811 (GRCm39) |
L32* |
probably null |
Het |
| Slc7a1 |
A |
G |
5: 148,278,920 (GRCm39) |
V284A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,951,608 (GRCm39) |
H565L |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,333,465 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,929,497 (GRCm39) |
T255A |
probably benign |
Het |
| Tmem130 |
C |
T |
5: 144,692,237 (GRCm39) |
G56R |
possibly damaging |
Het |
| Trmt1l |
A |
C |
1: 151,311,489 (GRCm39) |
Q116H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,554,094 (GRCm39) |
W30870R |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,173,973 (GRCm39) |
L1600F |
unknown |
Het |
| Vmn1r233 |
C |
T |
17: 21,214,417 (GRCm39) |
V178M |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,526 (GRCm39) |
P656L |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,566,862 (GRCm39) |
D83E |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,880,059 (GRCm39) |
V3045I |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,976,983 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
G |
7: 125,719,616 (GRCm39) |
V591A |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAAGTCAGGCCCCTTTC -3'
(R):5'- TAGGCTATAGGGATCTATCGTGAG -3'
Sequencing Primer
(F):5'- CCCTTTCCGCCTCGCAG -3'
(R):5'- TCTGCTTTGACAATCATCAAGAATC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation