Incidental Mutation 'R2061:Scn5a'
| ID |
316267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn5a
|
| Ensembl Gene |
ENSMUSG00000032511 |
| Gene Name |
sodium channel, voltage-gated, type V, alpha |
| Synonyms |
Nav1.5c, mH1, Nav1.5, SkM2 |
| MMRRC Submission |
040066-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119312474-119408082 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119314717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1996
(S1996L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065196]
[ENSMUST00000117911]
[ENSMUST00000120420]
|
| AlphaFold |
Q9JJV9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065196
AA Change: S1997L
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: S1997L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
130 |
423 |
2.4e-82 |
PFAM |
|
Pfam:Na_trans_cytopl
|
478 |
667 |
5.2e-49 |
PFAM |
|
Pfam:Ion_trans
|
716 |
950 |
1.1e-54 |
PFAM |
|
Pfam:Na_trans_assoc
|
955 |
1203 |
2.9e-57 |
PFAM |
|
Pfam:Ion_trans
|
1207 |
1484 |
2e-66 |
PFAM |
|
Pfam:Ion_trans
|
1530 |
1786 |
7.2e-55 |
PFAM |
|
Pfam:PKD_channel
|
1627 |
1780 |
3.5e-7 |
PFAM |
|
IQ
|
1903 |
1925 |
5e-2 |
SMART |
|
low complexity region
|
1961 |
1983 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117911
AA Change: S1997L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: S1997L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
159 |
412 |
9.6e-76 |
PFAM |
|
coiled coil region
|
413 |
451 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
461 |
668 |
4.9e-44 |
PFAM |
|
Pfam:Ion_trans
|
751 |
940 |
2.3e-46 |
PFAM |
|
Pfam:Na_trans_assoc
|
955 |
1218 |
1.2e-73 |
PFAM |
|
Pfam:Ion_trans
|
1244 |
1472 |
2e-56 |
PFAM |
|
PDB:1BYY|A
|
1474 |
1526 |
5e-29 |
PDB |
|
Pfam:Ion_trans
|
1565 |
1774 |
1.5e-49 |
PFAM |
|
Pfam:PKD_channel
|
1627 |
1781 |
2.6e-10 |
PFAM |
|
IQ
|
1903 |
1925 |
5e-2 |
SMART |
|
low complexity region
|
1961 |
1983 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120420
AA Change: S1996L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: S1996L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
159 |
412 |
4.5e-75 |
PFAM |
|
coiled coil region
|
413 |
451 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
461 |
668 |
7.4e-43 |
PFAM |
|
Pfam:Ion_trans
|
751 |
940 |
1.2e-45 |
PFAM |
|
Pfam:Na_trans_assoc
|
955 |
1217 |
1.6e-72 |
PFAM |
|
Pfam:Ion_trans
|
1243 |
1471 |
1.1e-55 |
PFAM |
|
PDB:1BYY|A
|
1473 |
1525 |
5e-29 |
PDB |
|
Pfam:Ion_trans
|
1564 |
1773 |
8.2e-49 |
PFAM |
|
Pfam:PKD_channel
|
1626 |
1780 |
2.6e-9 |
PFAM |
|
IQ
|
1902 |
1924 |
5e-2 |
SMART |
|
low complexity region
|
1960 |
1982 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (124/125) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted(9) Gene trapped(2)
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,502,412 (GRCm39) |
S191P |
probably damaging |
Het |
| Ak2 |
C |
T |
4: 128,901,990 (GRCm39) |
A221V |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,010 (GRCm39) |
V571E |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,309,205 (GRCm39) |
E428* |
probably null |
Het |
| Armh3 |
C |
T |
19: 45,967,106 (GRCm39) |
R12Q |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,993,078 (GRCm39) |
D154V |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,364 (GRCm39) |
Q202* |
probably null |
Het |
| Ate1 |
A |
G |
7: 130,112,643 (GRCm39) |
C72R |
probably damaging |
Het |
| Atox1 |
A |
G |
11: 55,345,724 (GRCm39) |
V22A |
possibly damaging |
Het |
| Bbs12 |
A |
T |
3: 37,373,215 (GRCm39) |
M3L |
probably damaging |
Het |
| Bfsp1 |
A |
G |
2: 143,704,598 (GRCm39) |
V85A |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,159,575 (GRCm39) |
C541* |
probably null |
Het |
| Caskin2 |
C |
A |
11: 115,694,456 (GRCm39) |
V382F |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,874,045 (GRCm39) |
M596L |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,569,530 (GRCm39) |
V529M |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,575,581 (GRCm39) |
Y154D |
probably benign |
Het |
| Cdadc1 |
T |
A |
14: 59,818,783 (GRCm39) |
E348D |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,868,631 (GRCm39) |
V531A |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,726,061 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
G |
T |
7: 34,818,947 (GRCm39) |
R35L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,168,830 (GRCm39) |
N235S |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,524,987 (GRCm39) |
I2725F |
possibly damaging |
Het |
| Cracr2b |
A |
G |
7: 141,045,193 (GRCm39) |
E231G |
probably damaging |
Het |
| Cryaa |
G |
T |
17: 31,900,029 (GRCm39) |
A151S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,628 (GRCm39) |
W225R |
probably damaging |
Het |
| Dab1 |
A |
T |
4: 104,535,938 (GRCm39) |
I116F |
probably damaging |
Het |
| Ddx43 |
C |
A |
9: 78,303,386 (GRCm39) |
N75K |
probably benign |
Het |
| Dmbt1 |
T |
G |
7: 130,700,863 (GRCm39) |
C1014G |
possibly damaging |
Het |
| Dner |
C |
A |
1: 84,383,710 (GRCm39) |
C558F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,456 (GRCm39) |
V839A |
possibly damaging |
Het |
| Dsg3 |
C |
T |
18: 20,660,794 (GRCm39) |
R378* |
probably null |
Het |
| Ecpas |
G |
T |
4: 58,824,270 (GRCm39) |
P1116T |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 59,476,160 (GRCm39) |
M1069V |
probably damaging |
Het |
| F930017D23Rik |
A |
C |
10: 43,480,416 (GRCm39) |
|
noncoding transcript |
Het |
| Faf1 |
A |
T |
4: 109,568,005 (GRCm39) |
N22Y |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,503,373 (GRCm39) |
V85E |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,770,448 (GRCm39) |
I87N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,148 (GRCm39) |
F314S |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,574,029 (GRCm39) |
Y141* |
probably null |
Het |
| Gdap1 |
A |
T |
1: 17,215,689 (GRCm39) |
|
probably benign |
Het |
| Gfod1 |
A |
T |
13: 43,456,719 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,502,474 (GRCm39) |
R655* |
probably null |
Het |
| Gm4353 |
A |
G |
7: 115,682,934 (GRCm39) |
S216P |
probably damaging |
Het |
| Gm6605 |
T |
A |
7: 38,147,706 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
T |
12: 51,841,227 (GRCm39) |
D634E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,337 (GRCm39) |
I152T |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,313,600 (GRCm39) |
K1947E |
possibly damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,263,244 (GRCm39) |
F144L |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,145,513 (GRCm39) |
M395V |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,009,448 (GRCm39) |
Q544L |
probably benign |
Het |
| Jmjd1c |
A |
T |
10: 67,054,205 (GRCm39) |
E323D |
probably damaging |
Het |
| Kdm5a |
G |
T |
6: 120,358,578 (GRCm39) |
R207L |
probably benign |
Het |
| Kif5b |
C |
T |
18: 6,226,377 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
C |
2: 158,166,499 (GRCm39) |
V351A |
probably benign |
Het |
| Lss |
A |
T |
10: 76,381,932 (GRCm39) |
|
probably null |
Het |
| Madd |
A |
C |
2: 90,991,831 (GRCm39) |
|
probably benign |
Het |
| Map6 |
G |
A |
7: 98,966,679 (GRCm39) |
V503I |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,660,260 (GRCm39) |
L22P |
probably damaging |
Het |
| Mcfd2 |
T |
C |
17: 87,563,404 (GRCm39) |
N130D |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,305,902 (GRCm39) |
N5S |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,940,389 (GRCm39) |
F48I |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,461 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,507,391 (GRCm39) |
|
probably null |
Het |
| Mmp15 |
T |
C |
8: 96,097,407 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,053,288 (GRCm39) |
K879R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,524,696 (GRCm39) |
K655E |
probably damaging |
Het |
| Nasp |
T |
C |
4: 116,468,323 (GRCm39) |
N221D |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,821,213 (GRCm39) |
E245G |
probably benign |
Het |
| Nmral1 |
C |
T |
16: 4,534,193 (GRCm39) |
E83K |
probably damaging |
Het |
| Noa1 |
T |
A |
5: 77,452,034 (GRCm39) |
Q550L |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,086,097 (GRCm39) |
Y211* |
probably null |
Het |
| Or10n1 |
G |
T |
9: 39,525,071 (GRCm39) |
M69I |
probably benign |
Het |
| Or10v1 |
T |
A |
19: 11,873,921 (GRCm39) |
Y179N |
probably damaging |
Het |
| Or2ag18 |
A |
C |
7: 106,404,975 (GRCm39) |
H231Q |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,478 (GRCm39) |
I174M |
possibly damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,605 (GRCm39) |
I90M |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,730,551 (GRCm39) |
F584L |
probably damaging |
Het |
| Palb2 |
G |
A |
7: 121,723,748 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,552,229 (GRCm39) |
M121L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,432,236 (GRCm39) |
T1460A |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,041 (GRCm39) |
D731V |
probably damaging |
Het |
| Pex11b |
C |
A |
3: 96,543,037 (GRCm39) |
Q12K |
possibly damaging |
Het |
| Pigw |
G |
C |
11: 84,768,136 (GRCm39) |
Q398E |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,788,888 (GRCm39) |
E882G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,683,036 (GRCm39) |
N55K |
possibly damaging |
Het |
| Plch2 |
A |
T |
4: 155,127,298 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,790,504 (GRCm39) |
L1058Q |
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,673,190 (GRCm39) |
S511P |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,338,437 (GRCm39) |
L676P |
probably damaging |
Het |
| Ppp6c |
T |
G |
2: 39,116,186 (GRCm39) |
D23A |
probably damaging |
Het |
| Prss30 |
G |
A |
17: 24,193,642 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,049,674 (GRCm39) |
|
probably null |
Het |
| Rec114 |
T |
A |
9: 58,560,188 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,680,764 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,349 (GRCm39) |
I3715N |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,130,947 (GRCm39) |
Y322C |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,652 (GRCm39) |
V1698A |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,525 (GRCm39) |
K174R |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,208,027 (GRCm39) |
I179T |
probably benign |
Het |
| Slc35b1 |
T |
G |
11: 95,276,718 (GRCm39) |
F102V |
possibly damaging |
Het |
| Slc66a2 |
G |
T |
18: 80,334,930 (GRCm39) |
A232S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,245,595 (GRCm39) |
D526G |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,978,519 (GRCm39) |
D495G |
probably damaging |
Het |
| Stk11ip |
G |
A |
1: 75,506,228 (GRCm39) |
E583K |
possibly damaging |
Het |
| Stk-ps1 |
T |
G |
17: 36,709,044 (GRCm39) |
|
noncoding transcript |
Het |
| Sufu |
T |
A |
19: 46,385,651 (GRCm39) |
I37N |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,469,535 (GRCm39) |
P140S |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,291 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,196,952 (GRCm39) |
I55N |
probably damaging |
Het |
| Tmem150c |
T |
C |
5: 100,227,887 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tmem237 |
A |
G |
1: 59,159,445 (GRCm39) |
|
probably benign |
Het |
| Trim11 |
A |
G |
11: 58,872,889 (GRCm39) |
E191G |
probably damaging |
Het |
| Ttll3 |
C |
T |
6: 113,386,003 (GRCm39) |
A612V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,807,466 (GRCm39) |
A89V |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,507,431 (GRCm39) |
F529L |
probably damaging |
Het |
| Vmn1r217 |
A |
C |
13: 23,298,698 (GRCm39) |
V68G |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,568,151 (GRCm39) |
S349P |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 104,961,502 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,895,838 (GRCm39) |
L262H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,895,991 (GRCm39) |
S241G |
probably benign |
Het |
|
| Other mutations in Scn5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Scn5a
|
APN |
9 |
119,315,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00480:Scn5a
|
APN |
9 |
119,346,604 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00542:Scn5a
|
APN |
9 |
119,321,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00852:Scn5a
|
APN |
9 |
119,366,748 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00895:Scn5a
|
APN |
9 |
119,342,170 (GRCm39) |
splice site |
probably null |
|
|
IGL00905:Scn5a
|
APN |
9 |
119,365,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01347:Scn5a
|
APN |
9 |
119,391,507 (GRCm39) |
nonsense |
probably null |
|
|
IGL01396:Scn5a
|
APN |
9 |
119,363,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01402:Scn5a
|
APN |
9 |
119,315,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Scn5a
|
APN |
9 |
119,315,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01487:Scn5a
|
APN |
9 |
119,391,689 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
IGL01612:Scn5a
|
APN |
9 |
119,315,091 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02134:Scn5a
|
APN |
9 |
119,314,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02434:Scn5a
|
APN |
9 |
119,362,859 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02698:Scn5a
|
APN |
9 |
119,350,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02717:Scn5a
|
APN |
9 |
119,358,076 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02746:Scn5a
|
APN |
9 |
119,379,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Scn5a
|
APN |
9 |
119,324,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Scn5a
|
APN |
9 |
119,341,248 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03188:Scn5a
|
APN |
9 |
119,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03268:Scn5a
|
APN |
9 |
119,350,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03287:Scn5a
|
APN |
9 |
119,318,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Scn5a
|
APN |
9 |
119,366,702 (GRCm39) |
missense |
probably benign |
0.12 |
|
PIT4142001:Scn5a
|
UTSW |
9 |
119,315,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Scn5a
|
UTSW |
9 |
119,363,636 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0026:Scn5a
|
UTSW |
9 |
119,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Scn5a
|
UTSW |
9 |
119,321,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0044:Scn5a
|
UTSW |
9 |
119,321,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0267:Scn5a
|
UTSW |
9 |
119,372,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0313:Scn5a
|
UTSW |
9 |
119,363,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Scn5a
|
UTSW |
9 |
119,351,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0364:Scn5a
|
UTSW |
9 |
119,351,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0369:Scn5a
|
UTSW |
9 |
119,362,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0512:Scn5a
|
UTSW |
9 |
119,379,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Scn5a
|
UTSW |
9 |
119,368,706 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1163:Scn5a
|
UTSW |
9 |
119,362,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Scn5a
|
UTSW |
9 |
119,362,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1469:Scn5a
|
UTSW |
9 |
119,362,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1470:Scn5a
|
UTSW |
9 |
119,365,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1470:Scn5a
|
UTSW |
9 |
119,365,541 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1530:Scn5a
|
UTSW |
9 |
119,324,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Scn5a
|
UTSW |
9 |
119,362,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Scn5a
|
UTSW |
9 |
119,315,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Scn5a
|
UTSW |
9 |
119,350,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Scn5a
|
UTSW |
9 |
119,391,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1607:Scn5a
|
UTSW |
9 |
119,315,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Scn5a
|
UTSW |
9 |
119,391,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Scn5a
|
UTSW |
9 |
119,350,243 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1785:Scn5a
|
UTSW |
9 |
119,350,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Scn5a
|
UTSW |
9 |
119,358,085 (GRCm39) |
missense |
probably benign |
|
|
R1956:Scn5a
|
UTSW |
9 |
119,346,479 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2006:Scn5a
|
UTSW |
9 |
119,365,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Scn5a
|
UTSW |
9 |
119,321,189 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2180:Scn5a
|
UTSW |
9 |
119,345,117 (GRCm39) |
missense |
probably benign |
|
|
R2216:Scn5a
|
UTSW |
9 |
119,342,151 (GRCm39) |
missense |
probably benign |
|
|
R2216:Scn5a
|
UTSW |
9 |
119,314,678 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2320:Scn5a
|
UTSW |
9 |
119,359,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2377:Scn5a
|
UTSW |
9 |
119,368,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Scn5a
|
UTSW |
9 |
119,362,751 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3113:Scn5a
|
UTSW |
9 |
119,314,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Scn5a
|
UTSW |
9 |
119,381,142 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4133:Scn5a
|
UTSW |
9 |
119,315,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Scn5a
|
UTSW |
9 |
119,324,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Scn5a
|
UTSW |
9 |
119,379,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4635:Scn5a
|
UTSW |
9 |
119,358,051 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4734:Scn5a
|
UTSW |
9 |
119,368,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4829:Scn5a
|
UTSW |
9 |
119,363,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4867:Scn5a
|
UTSW |
9 |
119,379,737 (GRCm39) |
nonsense |
probably null |
|
|
R5055:Scn5a
|
UTSW |
9 |
119,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Scn5a
|
UTSW |
9 |
119,365,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Scn5a
|
UTSW |
9 |
119,363,073 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5424:Scn5a
|
UTSW |
9 |
119,330,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Scn5a
|
UTSW |
9 |
119,324,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Scn5a
|
UTSW |
9 |
119,350,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Scn5a
|
UTSW |
9 |
119,389,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Scn5a
|
UTSW |
9 |
119,359,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5726:Scn5a
|
UTSW |
9 |
119,362,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Scn5a
|
UTSW |
9 |
119,330,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Scn5a
|
UTSW |
9 |
119,350,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Scn5a
|
UTSW |
9 |
119,391,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Scn5a
|
UTSW |
9 |
119,351,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6162:Scn5a
|
UTSW |
9 |
119,351,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6375:Scn5a
|
UTSW |
9 |
119,372,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Scn5a
|
UTSW |
9 |
119,315,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6464:Scn5a
|
UTSW |
9 |
119,363,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6794:Scn5a
|
UTSW |
9 |
119,364,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6799:Scn5a
|
UTSW |
9 |
119,324,688 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6850:Scn5a
|
UTSW |
9 |
119,330,815 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6858:Scn5a
|
UTSW |
9 |
119,321,156 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6861:Scn5a
|
UTSW |
9 |
119,359,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Scn5a
|
UTSW |
9 |
119,315,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Scn5a
|
UTSW |
9 |
119,315,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Scn5a
|
UTSW |
9 |
119,314,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Scn5a
|
UTSW |
9 |
119,318,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7145:Scn5a
|
UTSW |
9 |
119,315,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Scn5a
|
UTSW |
9 |
119,372,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7238:Scn5a
|
UTSW |
9 |
119,320,610 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7266:Scn5a
|
UTSW |
9 |
119,391,626 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7348:Scn5a
|
UTSW |
9 |
119,364,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Scn5a
|
UTSW |
9 |
119,315,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Scn5a
|
UTSW |
9 |
119,351,656 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7495:Scn5a
|
UTSW |
9 |
119,372,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7681:Scn5a
|
UTSW |
9 |
119,359,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7729:Scn5a
|
UTSW |
9 |
119,324,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7791:Scn5a
|
UTSW |
9 |
119,372,402 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7794:Scn5a
|
UTSW |
9 |
119,358,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Scn5a
|
UTSW |
9 |
119,327,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Scn5a
|
UTSW |
9 |
119,358,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Scn5a
|
UTSW |
9 |
119,391,611 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8306:Scn5a
|
UTSW |
9 |
119,350,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Scn5a
|
UTSW |
9 |
119,365,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8390:Scn5a
|
UTSW |
9 |
119,368,604 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8536:Scn5a
|
UTSW |
9 |
119,368,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Scn5a
|
UTSW |
9 |
119,363,766 (GRCm39) |
missense |
probably benign |
|
|
R9000:Scn5a
|
UTSW |
9 |
119,321,171 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9015:Scn5a
|
UTSW |
9 |
119,381,142 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9272:Scn5a
|
UTSW |
9 |
119,315,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Scn5a
|
UTSW |
9 |
119,324,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Scn5a
|
UTSW |
9 |
119,381,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9511:Scn5a
|
UTSW |
9 |
119,351,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Scn5a
|
UTSW |
9 |
119,315,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Scn5a
|
UTSW |
9 |
119,315,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Scn5a
|
UTSW |
9 |
119,346,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Scn5a
|
UTSW |
9 |
119,314,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Scn5a
|
UTSW |
9 |
119,362,997 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Scn5a
|
UTSW |
9 |
119,351,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTCCAGAGCTAGGAAG -3'
(R):5'- TTCCAAGATCTCCTATGAGCCC -3'
Sequencing Primer
(F):5'- CTCCAGAGCTAGGAAGGCCTTAG -3'
(R):5'- AGCAGTGGCCTCTCTGATGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation