Incidental Mutation 'R2331:Hcn3'
| ID |
245864 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2331 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89054082-89067538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89055397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 617
(S617T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029686]
[ENSMUST00000047111]
[ENSMUST00000107482]
|
| AlphaFold |
O88705 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029686
AA Change: S617T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: S617T
| 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 |
probably benign
Transcript: ENSMUST00000047111
|
| SMART Domains |
Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:PK
|
85 |
438 |
6.9e-165 |
PFAM |
|
Pfam:PK_C
|
453 |
571 |
3.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107482
|
| SMART Domains |
Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PK
|
54 |
407 |
3.1e-163 |
PFAM |
|
Pfam:PK_C
|
421 |
541 |
4.9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133368
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
| Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
| Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
| Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
| Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
| Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
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 |
|
IGL02285:Hcn3
|
APN |
3 |
89,060,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACAGAGATACCTGGGAACG -3'
(R):5'- TCGATACTGCAGCGGAAAC -3'
Sequencing Primer
(F):5'- TCCGGGATAGGCTGGCATG -3'
(R):5'- AAACGCTCTGAGCCGAGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation