Incidental Mutation 'R1967:Scn1a'
| ID |
219021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn1a
|
| Ensembl Gene |
ENSMUSG00000064329 |
| Gene Name |
sodium channel, voltage-gated, type I, alpha |
| Synonyms |
Nav1.1 |
| MMRRC Submission |
039980-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
66101125-66271181 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66158769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 384
(W384R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077489]
[ENSMUST00000094951]
[ENSMUST00000112366]
[ENSMUST00000112371]
[ENSMUST00000138910]
|
| AlphaFold |
A2APX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077489
AA Change: W384R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076697
Gene: ENSMUSG00000064329
AA Change: W384R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
156 |
422 |
5.4e-77 |
PFAM |
|
low complexity region
|
431 |
466 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
484 |
708 |
5.5e-73 |
PFAM |
|
Pfam:Ion_trans
|
791 |
980 |
6.8e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
995 |
1217 |
1.2e-74 |
PFAM |
|
Pfam:Ion_trans
|
1243 |
1471 |
1.1e-56 |
PFAM |
|
PDB:1BYY|A
|
1473 |
1525 |
4e-31 |
PDB |
|
Pfam:Ion_trans
|
1564 |
1774 |
1.1e-51 |
PFAM |
|
Pfam:PKD_channel
|
1623 |
1781 |
3.9e-7 |
PFAM |
|
low complexity region
|
1826 |
1838 |
N/A |
INTRINSIC |
|
IQ
|
1903 |
1925 |
1.65e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094951
AA Change: W384R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092558
Gene: ENSMUSG00000064329
AA Change: W384R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
156 |
422 |
5.3e-77 |
PFAM |
|
low complexity region
|
431 |
466 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
484 |
691 |
2e-62 |
PFAM |
|
Pfam:Ion_trans
|
774 |
963 |
6.7e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
978 |
1200 |
1.2e-74 |
PFAM |
|
Pfam:Ion_trans
|
1226 |
1454 |
1e-56 |
PFAM |
|
PDB:1BYY|A
|
1456 |
1508 |
4e-31 |
PDB |
|
Pfam:Ion_trans
|
1547 |
1757 |
1.1e-51 |
PFAM |
|
Pfam:PKD_channel
|
1606 |
1764 |
3.8e-7 |
PFAM |
|
low complexity region
|
1809 |
1821 |
N/A |
INTRINSIC |
|
IQ
|
1886 |
1908 |
1.65e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112366
AA Change: W384R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107985
Gene: ENSMUSG00000064329
AA Change: W384R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
127 |
434 |
2.8e-82 |
PFAM |
|
Pfam:Na_trans_cytopl
|
502 |
718 |
2e-91 |
PFAM |
|
Pfam:Ion_trans
|
767 |
1002 |
6.5e-57 |
PFAM |
|
Pfam:Na_trans_assoc
|
1006 |
1213 |
1.2e-60 |
PFAM |
|
Pfam:Ion_trans
|
1217 |
1493 |
3.3e-67 |
PFAM |
|
Pfam:Ion_trans
|
1540 |
1797 |
6.3e-56 |
PFAM |
|
Pfam:PKD_channel
|
1637 |
1791 |
1.1e-6 |
PFAM |
|
low complexity region
|
1837 |
1849 |
N/A |
INTRINSIC |
|
IQ
|
1914 |
1936 |
1.65e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112371
AA Change: W384R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107990
Gene: ENSMUSG00000064329
AA Change: W384R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
156 |
422 |
5.4e-77 |
PFAM |
|
low complexity region
|
431 |
466 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
484 |
708 |
5.5e-73 |
PFAM |
|
Pfam:Ion_trans
|
791 |
980 |
6.8e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
995 |
1217 |
1.2e-74 |
PFAM |
|
Pfam:Ion_trans
|
1243 |
1471 |
1.1e-56 |
PFAM |
|
PDB:1BYY|A
|
1473 |
1525 |
4e-31 |
PDB |
|
Pfam:Ion_trans
|
1564 |
1774 |
1.1e-51 |
PFAM |
|
Pfam:PKD_channel
|
1623 |
1781 |
3.9e-7 |
PFAM |
|
low complexity region
|
1826 |
1838 |
N/A |
INTRINSIC |
|
IQ
|
1903 |
1925 |
1.65e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138910
AA Change: W384R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116881
Gene: ENSMUSG00000064329
AA Change: W384R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mice show postnatal lethality, seizures and behavioral deficits whereas heterozygotes die prematurely with seizures and abnormal electrophysiology. In addition, knock-in mice exhibit increased susceptibility to febrile and flurothyl-induced seizures, and reduced inhibitory signaling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
C |
15: 37,439,842 (GRCm39) |
|
probably benign |
Het |
| Abca6 |
T |
C |
11: 110,077,974 (GRCm39) |
I1278V |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,832,605 (GRCm39) |
W310* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,563,459 (GRCm39) |
C650* |
probably null |
Het |
| Akap3 |
G |
T |
6: 126,842,061 (GRCm39) |
G227C |
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,208,682 (GRCm39) |
S457T |
probably benign |
Het |
| Angpt1 |
C |
A |
15: 42,301,703 (GRCm39) |
C435F |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,207,919 (GRCm39) |
Q207R |
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,967,950 (GRCm39) |
D325V |
probably benign |
Het |
| Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,298,672 (GRCm39) |
S96P |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,623,384 (GRCm39) |
H614Q |
probably benign |
Het |
| C6 |
A |
G |
15: 4,789,302 (GRCm39) |
D249G |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,173,430 (GRCm39) |
F977I |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,298,470 (GRCm39) |
S188G |
possibly damaging |
Het |
| Cntrob |
A |
T |
11: 69,211,789 (GRCm39) |
L145Q |
probably damaging |
Het |
| Coro7 |
T |
C |
16: 4,452,753 (GRCm39) |
E306G |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,232,904 (GRCm39) |
V1141G |
probably benign |
Het |
| Cpq |
T |
C |
15: 33,497,348 (GRCm39) |
S363P |
possibly damaging |
Het |
| Ctc1 |
A |
G |
11: 68,918,688 (GRCm39) |
|
probably null |
Het |
| Defb43 |
T |
A |
14: 63,255,246 (GRCm39) |
N26K |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,734,845 (GRCm39) |
T41A |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,545 (GRCm39) |
L11P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,564,288 (GRCm39) |
V26A |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,387,565 (GRCm39) |
D443G |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,521,335 (GRCm39) |
L243F |
possibly damaging |
Het |
| Fat3 |
T |
G |
9: 15,879,591 (GRCm39) |
R3301S |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,046,578 (GRCm39) |
T461A |
probably benign |
Het |
| Fgf8 |
T |
A |
19: 45,730,007 (GRCm39) |
S61C |
probably damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,852,871 (GRCm39) |
E100G |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,729,412 (GRCm39) |
S456F |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,317 (GRCm39) |
E457G |
probably damaging |
Het |
| Gpr33 |
G |
A |
12: 52,070,991 (GRCm39) |
S16L |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,501,049 (GRCm39) |
N393T |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,027,340 (GRCm39) |
K492E |
probably benign |
Het |
| Hsf2bp |
A |
T |
17: 32,206,378 (GRCm39) |
L251* |
probably null |
Het |
| Hyal5 |
A |
T |
6: 24,876,193 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,663,941 (GRCm39) |
V114E |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 72,134,179 (GRCm39) |
I427N |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,675,162 (GRCm39) |
S975P |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,359,662 (GRCm39) |
V238A |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,417 (GRCm39) |
D315G |
probably damaging |
Het |
| Klrh1 |
A |
T |
6: 129,752,798 (GRCm39) |
N2K |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,094 (GRCm39) |
N208D |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,137,651 (GRCm39) |
H551Q |
probably benign |
Het |
| Lrp8 |
G |
T |
4: 107,717,168 (GRCm39) |
G732V |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,096,553 (GRCm39) |
D288G |
unknown |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
A |
G |
17: 13,060,923 (GRCm39) |
Y167H |
probably benign |
Het |
| Mcm8 |
A |
C |
2: 132,684,662 (GRCm39) |
I759L |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,899,387 (GRCm39) |
D2148N |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,614,612 (GRCm39) |
I255K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,104,273 (GRCm39) |
N980S |
probably benign |
Het |
| Nap1l4 |
T |
A |
7: 143,088,024 (GRCm39) |
Q178L |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,857,252 (GRCm39) |
L988Q |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,036 (GRCm39) |
E164G |
possibly damaging |
Het |
| Nf1 |
G |
A |
11: 79,303,571 (GRCm39) |
R416H |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,026,535 (GRCm39) |
Q223* |
probably null |
Het |
| Or10q1 |
T |
A |
19: 13,727,417 (GRCm39) |
*316R |
probably null |
Het |
| Or2o1 |
T |
C |
11: 49,051,675 (GRCm39) |
I278T |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,612,715 (GRCm39) |
N558K |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,542,422 (GRCm39) |
M1253K |
possibly damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,797,832 (GRCm39) |
V22A |
probably damaging |
Het |
| Plppr5 |
G |
A |
3: 117,419,555 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
C |
7: 141,039,345 (GRCm39) |
S353P |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,420,608 (GRCm39) |
L271Q |
unknown |
Het |
| Prepl |
A |
T |
17: 85,395,979 (GRCm39) |
M1K |
probably null |
Het |
| Prr14l |
A |
G |
5: 33,001,813 (GRCm39) |
|
probably benign |
Het |
| Psmc3 |
C |
A |
2: 90,888,189 (GRCm39) |
P325T |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,896 (GRCm39) |
V17A |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,393,863 (GRCm39) |
I23V |
probably benign |
Het |
| Rab31 |
A |
G |
17: 66,079,499 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
T |
A |
19: 29,789,900 (GRCm39) |
K151* |
probably null |
Het |
| Rbm12b1 |
A |
T |
4: 12,146,304 (GRCm39) |
I759L |
probably benign |
Het |
| Rgs5 |
T |
C |
1: 169,504,425 (GRCm39) |
I25T |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,371,721 (GRCm39) |
V4842A |
probably damaging |
Het |
| Rtl9 |
A |
T |
X: 141,886,037 (GRCm39) |
I1150F |
probably damaging |
Het |
| Sema5a |
C |
T |
15: 32,681,765 (GRCm39) |
P948L |
probably damaging |
Het |
| Slc26a3 |
G |
A |
12: 31,515,777 (GRCm39) |
R559Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,243 (GRCm39) |
V267A |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,221,953 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,454 (GRCm39) |
I909L |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,795,327 (GRCm39) |
R1595L |
probably benign |
Het |
| Tfdp1 |
T |
C |
8: 13,423,039 (GRCm39) |
S315P |
possibly damaging |
Het |
| Tle1 |
A |
T |
4: 72,038,463 (GRCm39) |
V688E |
probably damaging |
Het |
| Tmem129 |
A |
T |
5: 33,812,665 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
G |
A |
5: 86,579,702 (GRCm39) |
T91I |
probably benign |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,807 (GRCm39) |
Y142H |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,311,538 (GRCm39) |
D68G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,592,631 (GRCm39) |
S12507T |
probably damaging |
Het |
| Tubgcp2 |
T |
A |
7: 139,586,066 (GRCm39) |
M408L |
probably benign |
Het |
| Usp34 |
A |
T |
11: 23,314,503 (GRCm39) |
H815L |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,446,330 (GRCm39) |
R746H |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,652,841 (GRCm39) |
S358P |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,899,882 (GRCm39) |
T674I |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,249 (GRCm39) |
H199Q |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,388 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,599,077 (GRCm39) |
T254S |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,930,510 (GRCm39) |
H132R |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,688,513 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp951 |
T |
A |
5: 104,964,866 (GRCm39) |
I67L |
possibly damaging |
Het |
|
| Other mutations in Scn1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Scn1a
|
APN |
2 |
66,165,875 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00650:Scn1a
|
APN |
2 |
66,111,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00658:Scn1a
|
APN |
2 |
66,116,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00823:Scn1a
|
APN |
2 |
66,155,279 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00907:Scn1a
|
APN |
2 |
66,158,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Scn1a
|
APN |
2 |
66,156,304 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01401:Scn1a
|
APN |
2 |
66,119,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01503:Scn1a
|
APN |
2 |
66,152,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01575:Scn1a
|
APN |
2 |
66,103,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01598:Scn1a
|
APN |
2 |
66,132,829 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01613:Scn1a
|
APN |
2 |
66,116,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Scn1a
|
APN |
2 |
66,162,645 (GRCm39) |
splice site |
probably benign |
|
|
IGL02079:Scn1a
|
APN |
2 |
66,153,704 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02171:Scn1a
|
APN |
2 |
66,103,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Scn1a
|
APN |
2 |
66,108,005 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02406:Scn1a
|
APN |
2 |
66,156,380 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02436:Scn1a
|
APN |
2 |
66,181,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02507:Scn1a
|
APN |
2 |
66,108,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02646:Scn1a
|
APN |
2 |
66,129,962 (GRCm39) |
splice site |
probably null |
|
|
IGL02729:Scn1a
|
APN |
2 |
66,129,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Scn1a
|
APN |
2 |
66,148,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02740:Scn1a
|
APN |
2 |
66,155,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02752:Scn1a
|
APN |
2 |
66,161,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02815:Scn1a
|
APN |
2 |
66,155,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03163:Scn1a
|
APN |
2 |
66,148,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03229:Scn1a
|
APN |
2 |
66,130,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Scn1a
|
APN |
2 |
66,107,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03393:Scn1a
|
APN |
2 |
66,148,362 (GRCm39) |
missense |
probably benign |
0.19 |
|
BB008:Scn1a
|
UTSW |
2 |
66,148,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB018:Scn1a
|
UTSW |
2 |
66,148,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4791001:Scn1a
|
UTSW |
2 |
66,103,626 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0053:Scn1a
|
UTSW |
2 |
66,130,119 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0053:Scn1a
|
UTSW |
2 |
66,130,119 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0107:Scn1a
|
UTSW |
2 |
66,154,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0141:Scn1a
|
UTSW |
2 |
66,119,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Scn1a
|
UTSW |
2 |
66,104,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0517:Scn1a
|
UTSW |
2 |
66,132,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0532:Scn1a
|
UTSW |
2 |
66,148,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0746:Scn1a
|
UTSW |
2 |
66,181,470 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0755:Scn1a
|
UTSW |
2 |
66,151,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0830:Scn1a
|
UTSW |
2 |
66,130,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0846:Scn1a
|
UTSW |
2 |
66,155,099 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0918:Scn1a
|
UTSW |
2 |
66,153,651 (GRCm39) |
splice site |
probably null |
|
|
R1055:Scn1a
|
UTSW |
2 |
66,168,340 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1432:Scn1a
|
UTSW |
2 |
66,152,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Scn1a
|
UTSW |
2 |
66,162,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Scn1a
|
UTSW |
2 |
66,161,629 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1525:Scn1a
|
UTSW |
2 |
66,149,806 (GRCm39) |
nonsense |
probably null |
|
|
R1567:Scn1a
|
UTSW |
2 |
66,103,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Scn1a
|
UTSW |
2 |
66,148,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Scn1a
|
UTSW |
2 |
66,152,620 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1834:Scn1a
|
UTSW |
2 |
66,154,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1834:Scn1a
|
UTSW |
2 |
66,154,960 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1860:Scn1a
|
UTSW |
2 |
66,148,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1871:Scn1a
|
UTSW |
2 |
66,148,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1909:Scn1a
|
UTSW |
2 |
66,161,696 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1976:Scn1a
|
UTSW |
2 |
66,161,615 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2291:Scn1a
|
UTSW |
2 |
66,119,312 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2302:Scn1a
|
UTSW |
2 |
66,108,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Scn1a
|
UTSW |
2 |
66,158,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Scn1a
|
UTSW |
2 |
66,104,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2517:Scn1a
|
UTSW |
2 |
66,104,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Scn1a
|
UTSW |
2 |
66,103,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3083:Scn1a
|
UTSW |
2 |
66,129,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3903:Scn1a
|
UTSW |
2 |
66,148,476 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3909:Scn1a
|
UTSW |
2 |
66,104,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Scn1a
|
UTSW |
2 |
66,107,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3935:Scn1a
|
UTSW |
2 |
66,158,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3936:Scn1a
|
UTSW |
2 |
66,158,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4043:Scn1a
|
UTSW |
2 |
66,156,380 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4429:Scn1a
|
UTSW |
2 |
66,181,329 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4495:Scn1a
|
UTSW |
2 |
66,111,146 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4662:Scn1a
|
UTSW |
2 |
66,181,332 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4834:Scn1a
|
UTSW |
2 |
66,158,866 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Scn1a
|
UTSW |
2 |
66,158,820 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4875:Scn1a
|
UTSW |
2 |
66,158,820 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5099:Scn1a
|
UTSW |
2 |
66,108,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Scn1a
|
UTSW |
2 |
66,108,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5435:Scn1a
|
UTSW |
2 |
66,103,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Scn1a
|
UTSW |
2 |
66,151,346 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5519:Scn1a
|
UTSW |
2 |
66,162,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Scn1a
|
UTSW |
2 |
66,154,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5556:Scn1a
|
UTSW |
2 |
66,155,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5587:Scn1a
|
UTSW |
2 |
66,103,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5972:Scn1a
|
UTSW |
2 |
66,181,454 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5992:Scn1a
|
UTSW |
2 |
66,165,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Scn1a
|
UTSW |
2 |
66,107,962 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6233:Scn1a
|
UTSW |
2 |
66,107,962 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6328:Scn1a
|
UTSW |
2 |
66,103,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Scn1a
|
UTSW |
2 |
66,103,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Scn1a
|
UTSW |
2 |
66,103,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6421:Scn1a
|
UTSW |
2 |
66,103,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6461:Scn1a
|
UTSW |
2 |
66,156,466 (GRCm39) |
missense |
probably null |
0.01 |
|
R6701:Scn1a
|
UTSW |
2 |
66,168,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6717:Scn1a
|
UTSW |
2 |
66,162,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Scn1a
|
UTSW |
2 |
66,158,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Scn1a
|
UTSW |
2 |
66,162,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6953:Scn1a
|
UTSW |
2 |
66,149,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Scn1a
|
UTSW |
2 |
66,118,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Scn1a
|
UTSW |
2 |
66,148,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Scn1a
|
UTSW |
2 |
66,181,286 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7115:Scn1a
|
UTSW |
2 |
66,154,962 (GRCm39) |
nonsense |
probably null |
|
|
R7239:Scn1a
|
UTSW |
2 |
66,108,000 (GRCm39) |
splice site |
probably null |
|
|
R7434:Scn1a
|
UTSW |
2 |
66,103,389 (GRCm39) |
missense |
probably benign |
|
|
R7646:Scn1a
|
UTSW |
2 |
66,118,102 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7711:Scn1a
|
UTSW |
2 |
66,134,004 (GRCm39) |
missense |
probably benign |
|
|
R7879:Scn1a
|
UTSW |
2 |
66,116,349 (GRCm39) |
nonsense |
probably null |
|
|
R7931:Scn1a
|
UTSW |
2 |
66,148,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7962:Scn1a
|
UTSW |
2 |
66,158,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Scn1a
|
UTSW |
2 |
66,148,557 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8055:Scn1a
|
UTSW |
2 |
66,149,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Scn1a
|
UTSW |
2 |
66,132,809 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8167:Scn1a
|
UTSW |
2 |
66,155,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8339:Scn1a
|
UTSW |
2 |
66,116,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Scn1a
|
UTSW |
2 |
66,152,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Scn1a
|
UTSW |
2 |
66,156,478 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8559:Scn1a
|
UTSW |
2 |
66,118,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Scn1a
|
UTSW |
2 |
66,133,983 (GRCm39) |
missense |
probably benign |
|
|
R8733:Scn1a
|
UTSW |
2 |
66,154,944 (GRCm39) |
missense |
probably benign |
|
|
R8779:Scn1a
|
UTSW |
2 |
66,181,257 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8841:Scn1a
|
UTSW |
2 |
66,156,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8916:Scn1a
|
UTSW |
2 |
66,108,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Scn1a
|
UTSW |
2 |
66,168,330 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9040:Scn1a
|
UTSW |
2 |
66,148,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9086:Scn1a
|
UTSW |
2 |
66,181,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9176:Scn1a
|
UTSW |
2 |
66,103,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Scn1a
|
UTSW |
2 |
66,130,099 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9275:Scn1a
|
UTSW |
2 |
66,130,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Scn1a
|
UTSW |
2 |
66,148,465 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9478:Scn1a
|
UTSW |
2 |
66,156,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9560:Scn1a
|
UTSW |
2 |
66,158,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Scn1a
|
UTSW |
2 |
66,152,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9624:Scn1a
|
UTSW |
2 |
66,153,766 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Scn1a
|
UTSW |
2 |
66,156,472 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Scn1a
|
UTSW |
2 |
66,155,296 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACAGAATTACTCTCCTTGGCG -3'
(R):5'- CGCCTGTGTCCTTTAAGTAGTG -3'
Sequencing Primer
(F):5'- GGCGTTACTCCATTTAATGCG -3'
(R):5'- GTAAGTGTAGGCTTCTACCAGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation