Incidental Mutation 'R2121:Hcn4'
| ID |
231458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn4
|
| Ensembl Gene |
ENSMUSG00000032338 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 4 |
| Synonyms |
|
| MMRRC Submission |
040125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2121 (G1)
|
| Quality Score |
161 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58730695-58770458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58731341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 183
(S183P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034889]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034889
AA Change: S183P
|
| SMART Domains |
Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: S183P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
184 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
218 |
261 |
1.2e-23 |
PFAM |
|
Pfam:Ion_trans
|
262 |
525 |
2.2e-25 |
PFAM |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
538 |
570 |
9e-13 |
BLAST |
|
cNMP
|
595 |
708 |
2.27e-23 |
SMART |
|
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
818 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1004 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1045 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1123 |
1140 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1164 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene experience embryonic lethality between E9.5 and E11.5. Conditional deletion in cardiac tissue results in severe bradycardia and death. Mice over-expressing the gene exhibit impaired firing rate in ORN, small olfactory bulb and reduced glomeruli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,172,385 (GRCm39) |
F675L |
probably benign |
Het |
| Akna |
G |
A |
4: 63,295,137 (GRCm39) |
T1024I |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,191,708 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,247,704 (GRCm39) |
N263Y |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,965,738 (GRCm39) |
S375P |
probably damaging |
Het |
| Bscl2 |
G |
T |
19: 8,817,146 (GRCm39) |
E25* |
probably null |
Het |
| Ccl12 |
T |
A |
11: 81,992,776 (GRCm39) |
S17R |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
| Ceacam9 |
T |
A |
7: 16,455,928 (GRCm39) |
F12I |
probably benign |
Het |
| Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,293,389 (GRCm39) |
V33A |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Col20a1 |
G |
C |
2: 180,638,249 (GRCm39) |
A346P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,738,087 (GRCm39) |
D537G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,442 (GRCm39) |
M330K |
unknown |
Het |
| Dnah5 |
C |
T |
15: 28,297,151 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,409,841 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,230 (GRCm39) |
M175V |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,929,833 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,835,556 (GRCm39) |
Y1746C |
probably damaging |
Het |
| Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
| Mlc1 |
A |
G |
15: 88,847,634 (GRCm39) |
Y305H |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,580,612 (GRCm39) |
Y2474C |
unknown |
Het |
| Mybphl |
A |
C |
3: 108,282,492 (GRCm39) |
N175T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,944,304 (GRCm39) |
V102A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,457,837 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
| Or8j3 |
T |
A |
2: 86,028,340 (GRCm39) |
Y252F |
possibly damaging |
Het |
| Palb2 |
T |
C |
7: 121,727,004 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pde10a |
A |
T |
17: 9,196,047 (GRCm39) |
Q657L |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,260,577 (GRCm39) |
F234I |
probably damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,383,325 (GRCm39) |
|
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,941 (GRCm39) |
M203V |
possibly damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,886 (GRCm39) |
I726F |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,177,067 (GRCm39) |
S75P |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
| Tmed11 |
G |
A |
5: 108,943,198 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
C |
A |
1: 132,435,847 (GRCm39) |
Q218K |
probably benign |
Het |
| Tnfsf11 |
G |
A |
14: 78,537,333 (GRCm39) |
T110I |
probably benign |
Het |
| Tub |
G |
A |
7: 108,625,944 (GRCm39) |
G232S |
probably damaging |
Het |
| Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,315,880 (GRCm39) |
T621A |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,356 (GRCm39) |
F501S |
possibly damaging |
Het |
|
| Other mutations in Hcn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Hcn4
|
APN |
9 |
58,767,336 (GRCm39) |
missense |
unknown |
|
|
IGL00939:Hcn4
|
APN |
9 |
58,751,210 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01154:Hcn4
|
APN |
9 |
58,766,362 (GRCm39) |
missense |
unknown |
|
|
IGL01408:Hcn4
|
APN |
9 |
58,767,169 (GRCm39) |
missense |
unknown |
|
|
IGL02658:Hcn4
|
APN |
9 |
58,766,748 (GRCm39) |
missense |
unknown |
|
|
IGL02877:Hcn4
|
APN |
9 |
58,766,450 (GRCm39) |
missense |
unknown |
|
|
IGL03211:Hcn4
|
APN |
9 |
58,765,434 (GRCm39) |
missense |
unknown |
|
|
PIT1430001:Hcn4
|
UTSW |
9 |
58,766,833 (GRCm39) |
missense |
unknown |
|
|
R0049:Hcn4
|
UTSW |
9 |
58,767,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0268:Hcn4
|
UTSW |
9 |
58,767,445 (GRCm39) |
missense |
unknown |
|
|
R0812:Hcn4
|
UTSW |
9 |
58,730,795 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3035:Hcn4
|
UTSW |
9 |
58,730,963 (GRCm39) |
missense |
unknown |
|
|
R3715:Hcn4
|
UTSW |
9 |
58,751,319 (GRCm39) |
missense |
unknown |
|
|
R3737:Hcn4
|
UTSW |
9 |
58,751,172 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3958:Hcn4
|
UTSW |
9 |
58,751,331 (GRCm39) |
missense |
unknown |
|
|
R4035:Hcn4
|
UTSW |
9 |
58,751,172 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4393:Hcn4
|
UTSW |
9 |
58,751,583 (GRCm39) |
missense |
unknown |
|
|
R4418:Hcn4
|
UTSW |
9 |
58,751,178 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4532:Hcn4
|
UTSW |
9 |
58,765,081 (GRCm39) |
missense |
unknown |
|
|
R4765:Hcn4
|
UTSW |
9 |
58,765,260 (GRCm39) |
missense |
unknown |
|
|
R4857:Hcn4
|
UTSW |
9 |
58,766,853 (GRCm39) |
missense |
unknown |
|
|
R4967:Hcn4
|
UTSW |
9 |
58,767,111 (GRCm39) |
missense |
unknown |
|
|
R5068:Hcn4
|
UTSW |
9 |
58,767,304 (GRCm39) |
missense |
unknown |
|
|
R5253:Hcn4
|
UTSW |
9 |
58,731,558 (GRCm39) |
missense |
unknown |
|
|
R5304:Hcn4
|
UTSW |
9 |
58,751,215 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5600:Hcn4
|
UTSW |
9 |
58,766,576 (GRCm39) |
splice site |
probably null |
|
|
R6346:Hcn4
|
UTSW |
9 |
58,766,327 (GRCm39) |
missense |
unknown |
|
|
R6575:Hcn4
|
UTSW |
9 |
58,731,435 (GRCm39) |
missense |
unknown |
|
|
R6622:Hcn4
|
UTSW |
9 |
58,765,010 (GRCm39) |
missense |
unknown |
|
|
R6967:Hcn4
|
UTSW |
9 |
58,731,228 (GRCm39) |
missense |
unknown |
|
|
R7038:Hcn4
|
UTSW |
9 |
58,730,867 (GRCm39) |
missense |
unknown |
|
|
R7054:Hcn4
|
UTSW |
9 |
58,763,000 (GRCm39) |
missense |
unknown |
|
|
R7229:Hcn4
|
UTSW |
9 |
58,760,682 (GRCm39) |
missense |
unknown |
|
|
R7407:Hcn4
|
UTSW |
9 |
58,766,653 (GRCm39) |
missense |
unknown |
|
|
R7448:Hcn4
|
UTSW |
9 |
58,751,582 (GRCm39) |
missense |
unknown |
|
|
R7531:Hcn4
|
UTSW |
9 |
58,767,420 (GRCm39) |
missense |
unknown |
|
|
R7572:Hcn4
|
UTSW |
9 |
58,731,063 (GRCm39) |
missense |
unknown |
|
|
R7680:Hcn4
|
UTSW |
9 |
58,767,954 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7915:Hcn4
|
UTSW |
9 |
58,731,218 (GRCm39) |
missense |
unknown |
|
|
R7956:Hcn4
|
UTSW |
9 |
58,751,456 (GRCm39) |
missense |
unknown |
|
|
R8146:Hcn4
|
UTSW |
9 |
58,731,027 (GRCm39) |
missense |
unknown |
|
|
R8234:Hcn4
|
UTSW |
9 |
58,751,433 (GRCm39) |
missense |
unknown |
|
|
R8421:Hcn4
|
UTSW |
9 |
58,765,379 (GRCm39) |
missense |
unknown |
|
|
R8690:Hcn4
|
UTSW |
9 |
58,751,193 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8855:Hcn4
|
UTSW |
9 |
58,765,387 (GRCm39) |
missense |
unknown |
|
|
R8884:Hcn4
|
UTSW |
9 |
58,760,705 (GRCm39) |
missense |
unknown |
|
|
R9017:Hcn4
|
UTSW |
9 |
58,731,482 (GRCm39) |
missense |
unknown |
|
|
R9151:Hcn4
|
UTSW |
9 |
58,767,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9331:Hcn4
|
UTSW |
9 |
58,767,705 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9433:Hcn4
|
UTSW |
9 |
58,731,222 (GRCm39) |
missense |
unknown |
|
|
R9523:Hcn4
|
UTSW |
9 |
58,766,809 (GRCm39) |
missense |
unknown |
|
|
R9541:Hcn4
|
UTSW |
9 |
58,767,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Hcn4
|
UTSW |
9 |
58,731,493 (GRCm39) |
missense |
unknown |
|
|
R9748:Hcn4
|
UTSW |
9 |
58,730,996 (GRCm39) |
missense |
unknown |
|
|
R9753:Hcn4
|
UTSW |
9 |
58,751,319 (GRCm39) |
missense |
unknown |
|
|
R9795:Hcn4
|
UTSW |
9 |
58,760,762 (GRCm39) |
nonsense |
probably null |
|
|
RF011:Hcn4
|
UTSW |
9 |
58,767,198 (GRCm39) |
missense |
unknown |
|
|
X0009:Hcn4
|
UTSW |
9 |
58,768,042 (GRCm39) |
nonsense |
probably null |
|
|
X0057:Hcn4
|
UTSW |
9 |
58,766,651 (GRCm39) |
missense |
unknown |
|
|
Z1176:Hcn4
|
UTSW |
9 |
58,765,431 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGCGTGGATCATGGACG -3'
(R):5'- TTTCTGGCTGCCGAACATCC -3'
Sequencing Primer
(F):5'- ACCAACGGTGACTGCAG -3'
(R):5'- CATCCTTAGGGAGAATTTGTTGACCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation