Incidental Mutation 'R5984:Hcn3'
| ID |
481550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcn3
|
| Ensembl Gene |
ENSMUSG00000028051 |
| Gene Name |
hyperpolarization-activated, cyclic nucleotide-gated K+ 3 |
| Synonyms |
Hac3 |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89054082-89067538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89055570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 559
(E559G)
|
| 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: E559G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: E559G
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
probably benign |
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 |
|
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 |
|
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'- TGGTGAGTCAAGGCTATGGC -3'
(R):5'- CTAGCGAGAAATTGCCGTGGAG -3'
Sequencing Primer
(F):5'- TATGGCCACGTTGGAGGTCAC -3'
(R):5'- AGAAATTGCCGTGGAGTGTCTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation