Incidental Mutation 'IGL02285:Hcn3'
| ID |
289964 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hcn3
|
| Ensembl Gene |
ENSMUSG00000028051 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 3 |
| Synonyms |
Hac3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
IGL02285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89054082-89067538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89060119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 175
(D175G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029686]
|
| AlphaFold |
O88705 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029686
AA Change: D175G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: D175G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_N
|
48 |
91 |
1.3e-22 |
PFAM |
|
Pfam:Ion_trans
|
92 |
357 |
3.7e-25 |
PFAM |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
370 |
402 |
7e-14 |
BLAST |
|
cNMP
|
427 |
540 |
2.32e-20 |
SMART |
|
Blast:cNMP
|
548 |
588 |
2e-17 |
BLAST |
|
low complexity region
|
636 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133368
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,244,670 (GRCm39) |
V672A |
possibly damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,187,536 (GRCm39) |
V253D |
possibly damaging |
Het |
| Atg3 |
G |
A |
16: 44,998,680 (GRCm39) |
|
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,814 (GRCm39) |
D1557G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 110,065,921 (GRCm39) |
T732A |
probably damaging |
Het |
| Cert1 |
A |
G |
13: 96,752,990 (GRCm39) |
H348R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,229 (GRCm39) |
I207F |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,683,649 (GRCm39) |
|
probably null |
Het |
| Drc7 |
A |
T |
8: 95,797,861 (GRCm39) |
|
probably benign |
Het |
| Drosha |
C |
A |
15: 12,833,950 (GRCm39) |
P18H |
unknown |
Het |
| Fbxl5 |
A |
G |
5: 43,922,690 (GRCm39) |
S243P |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,727,408 (GRCm39) |
C404R |
probably damaging |
Het |
| Gm5745 |
G |
A |
9: 73,082,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7808 |
T |
G |
9: 19,839,347 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
C |
T |
8: 5,690,373 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv1-117 |
A |
T |
6: 68,098,519 (GRCm39) |
M23L |
probably benign |
Het |
| Kif26a |
A |
G |
12: 112,123,941 (GRCm39) |
D182G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,459,233 (GRCm39) |
|
probably benign |
Het |
| Lypd4 |
T |
A |
7: 24,564,865 (GRCm39) |
Q91L |
probably damaging |
Het |
| Ncoa5 |
C |
T |
2: 164,844,760 (GRCm39) |
A37T |
probably damaging |
Het |
| Or52ad1 |
G |
A |
7: 102,995,245 (GRCm39) |
R297* |
probably null |
Het |
| Or56b1 |
A |
G |
7: 104,284,932 (GRCm39) |
E17G |
probably benign |
Het |
| Or7g17 |
T |
A |
9: 18,768,286 (GRCm39) |
C122S |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,148 (GRCm39) |
K8E |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,634,387 (GRCm39) |
|
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 91,959,535 (GRCm39) |
F1122L |
possibly damaging |
Het |
| Rps15 |
G |
T |
10: 80,129,596 (GRCm39) |
M43I |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,592 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,616,098 (GRCm39) |
M588K |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,943,714 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,042,643 (GRCm39) |
V587A |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,847,181 (GRCm39) |
D34G |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,598 (GRCm39) |
I125F |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,702 (GRCm39) |
L120Q |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,711 (GRCm39) |
I144M |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,823 (GRCm39) |
F792S |
probably damaging |
Het |
| Vsnl1 |
A |
G |
12: 11,436,878 (GRCm39) |
F34L |
probably damaging |
Het |
|
| Other mutations in Hcn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Hcn3
|
APN |
3 |
89,055,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02557:Hcn3
|
APN |
3 |
89,057,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Hcn3
|
UTSW |
3 |
89,067,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0189:Hcn3
|
UTSW |
3 |
89,056,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0442:Hcn3
|
UTSW |
3 |
89,058,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0454:Hcn3
|
UTSW |
3 |
89,060,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0732:Hcn3
|
UTSW |
3 |
89,056,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Hcn3
|
UTSW |
3 |
89,055,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1900:Hcn3
|
UTSW |
3 |
89,055,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Hcn3
|
UTSW |
3 |
89,055,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2279:Hcn3
|
UTSW |
3 |
89,055,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2331:Hcn3
|
UTSW |
3 |
89,055,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2916:Hcn3
|
UTSW |
3 |
89,054,920 (GRCm39) |
missense |
probably benign |
|
|
R2918:Hcn3
|
UTSW |
3 |
89,054,920 (GRCm39) |
missense |
probably benign |
|
|
R4604:Hcn3
|
UTSW |
3 |
89,057,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Hcn3
|
UTSW |
3 |
89,057,370 (GRCm39) |
splice site |
probably null |
|
|
R5095:Hcn3
|
UTSW |
3 |
89,057,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5776:Hcn3
|
UTSW |
3 |
89,055,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5984:Hcn3
|
UTSW |
3 |
89,055,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6389:Hcn3
|
UTSW |
3 |
89,058,240 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6736:Hcn3
|
UTSW |
3 |
89,059,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Hcn3
|
UTSW |
3 |
89,067,152 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6909:Hcn3
|
UTSW |
3 |
89,059,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7549:Hcn3
|
UTSW |
3 |
89,057,307 (GRCm39) |
missense |
probably null |
0.51 |
|
R9090:Hcn3
|
UTSW |
3 |
89,057,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9271:Hcn3
|
UTSW |
3 |
89,057,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation