Incidental Mutation 'R0631:Scn8a'
| ID |
58015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn8a
|
| Ensembl Gene |
ENSMUSG00000023033 |
| Gene Name |
sodium channel, voltage-gated, type VIII, alpha |
| Synonyms |
nmf335, nmf58, NMF335, C630029C19Rik, nur14, mnd2, seal, mnd-2, nmf2, med, ataxia 3, NaCh6, Nav1.6, motor end-plate disease |
| MMRRC Submission |
038820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.790)
|
| Stock # |
R0631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100767739-100943819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100933418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1500
(T1500A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082209]
[ENSMUST00000108908]
[ENSMUST00000108909]
[ENSMUST00000108910]
[ENSMUST00000200963]
[ENSMUST00000201549]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082209
AA Change: T1541A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080842
Gene: ENSMUSG00000023033
AA Change: T1541A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
131 |
422 |
7.4e-82 |
PFAM |
|
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
499 |
700 |
3.5e-72 |
PFAM |
|
low complexity region
|
701 |
712 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
750 |
985 |
2.2e-57 |
PFAM |
|
Pfam:Na_trans_assoc
|
989 |
1191 |
2e-59 |
PFAM |
|
Pfam:Ion_trans
|
1195 |
1472 |
6.2e-69 |
PFAM |
|
Pfam:Ion_trans
|
1519 |
1775 |
1.2e-56 |
PFAM |
|
IQ
|
1892 |
1914 |
1.2e-4 |
SMART |
|
low complexity region
|
1953 |
1972 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108908
AA Change: T1541A
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104536
Gene: ENSMUSG00000023033
AA Change: T1541A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
72 |
322 |
1.9e-76 |
PFAM |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
451 |
640 |
1.1e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
655 |
872 |
1.9e-71 |
PFAM |
|
Pfam:Ion_trans
|
898 |
1127 |
4.4e-59 |
PFAM |
|
PDB:1BYY|A
|
1129 |
1181 |
7e-30 |
PDB |
|
Pfam:Ion_trans
|
1220 |
1429 |
1.9e-51 |
PFAM |
|
Pfam:PKD_channel
|
1281 |
1436 |
5.6e-7 |
PFAM |
|
IQ
|
1558 |
1580 |
1.2e-4 |
SMART |
|
low complexity region
|
1619 |
1638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108909
AA Change: T1551A
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104537
Gene: ENSMUSG00000023033
AA Change: T1551A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
72 |
322 |
2.2e-76 |
PFAM |
|
low complexity region
|
335 |
364 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
390 |
616 |
8.7e-70 |
PFAM |
|
Pfam:Ion_trans
|
697 |
886 |
1.3e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
901 |
1118 |
2.3e-71 |
PFAM |
|
Pfam:Ion_trans
|
1144 |
1186 |
9.7e-10 |
PFAM |
|
Pfam:Ion_trans
|
1182 |
1332 |
1.7e-31 |
PFAM |
|
PDB:1BYY|A
|
1334 |
1386 |
2e-29 |
PDB |
|
Pfam:Ion_trans
|
1425 |
1634 |
2.3e-51 |
PFAM |
|
Pfam:PKD_channel
|
1486 |
1641 |
6.6e-7 |
PFAM |
|
IQ
|
1763 |
1785 |
1.2e-4 |
SMART |
|
low complexity region
|
1824 |
1843 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108910
AA Change: T1541A
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104538
Gene: ENSMUSG00000023033
AA Change: T1541A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
160 |
410 |
2.5e-76 |
PFAM |
|
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
478 |
704 |
9.6e-70 |
PFAM |
|
Pfam:Ion_trans
|
785 |
974 |
1.4e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
989 |
1206 |
2.5e-71 |
PFAM |
|
Pfam:Ion_trans
|
1232 |
1461 |
5.7e-59 |
PFAM |
|
PDB:1BYY|A
|
1463 |
1515 |
4e-29 |
PDB |
|
Pfam:Ion_trans
|
1554 |
1763 |
2.5e-51 |
PFAM |
|
Pfam:PKD_channel
|
1615 |
1770 |
7.1e-7 |
PFAM |
|
IQ
|
1892 |
1914 |
1.2e-4 |
SMART |
|
low complexity region
|
1953 |
1972 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200963
AA Change: T1500A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144371
Gene: ENSMUSG00000023033
AA Change: T1500A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
131 |
422 |
4.1e-80 |
PFAM |
|
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
499 |
700 |
2.5e-69 |
PFAM |
|
low complexity region
|
701 |
712 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
750 |
985 |
1.2e-55 |
PFAM |
|
Pfam:Na_trans_assoc
|
989 |
1191 |
9.1e-57 |
PFAM |
|
Pfam:Ion_trans
|
1195 |
1274 |
7.6e-16 |
PFAM |
|
Pfam:Ion_trans
|
1270 |
1431 |
2.6e-33 |
PFAM |
|
Pfam:Ion_trans
|
1478 |
1734 |
6.5e-55 |
PFAM |
|
IQ
|
1851 |
1873 |
6e-7 |
SMART |
|
low complexity region
|
1912 |
1931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201549
AA Change: T1541A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144013
Gene: ENSMUSG00000023033
AA Change: T1541A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
131 |
422 |
7.4e-82 |
PFAM |
|
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
499 |
700 |
3.5e-72 |
PFAM |
|
low complexity region
|
701 |
712 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
750 |
985 |
2.2e-57 |
PFAM |
|
Pfam:Na_trans_assoc
|
989 |
1191 |
2e-59 |
PFAM |
|
Pfam:Ion_trans
|
1195 |
1472 |
6.2e-69 |
PFAM |
|
Pfam:Ion_trans
|
1519 |
1775 |
1.2e-56 |
PFAM |
|
IQ
|
1892 |
1914 |
1.2e-4 |
SMART |
|
low complexity region
|
1953 |
1972 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2016 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
| Validation Efficiency |
97% (129/133) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(22) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(6) Transgenic(1) Spontaneous(5) Chemically induced(8)
|
| Other mutations in this stock |
Total: 131 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,982,479 (GRCm39) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,904,517 (GRCm39) |
E594G |
probably benign |
Het |
| Ak8 |
T |
G |
2: 28,625,677 (GRCm39) |
I240S |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,264,744 (GRCm39) |
V174A |
probably damaging |
Het |
| Alppl2 |
G |
A |
1: 87,017,095 (GRCm39) |
T66I |
probably damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,697 (GRCm39) |
I36F |
probably damaging |
Het |
| Antxrl |
T |
A |
14: 33,780,758 (GRCm39) |
|
probably null |
Het |
| Arhgef2 |
G |
C |
3: 88,541,743 (GRCm39) |
V244L |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,416,481 (GRCm39) |
I1098T |
unknown |
Het |
| Atr |
T |
C |
9: 95,756,830 (GRCm39) |
V903A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,842,899 (GRCm39) |
A354S |
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,624,114 (GRCm39) |
I371N |
probably damaging |
Het |
| Camsap1 |
A |
T |
2: 25,823,659 (GRCm39) |
S1464T |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,274,331 (GRCm39) |
I728T |
probably damaging |
Het |
| Ccdc88a |
A |
T |
11: 29,443,752 (GRCm39) |
M1378L |
probably damaging |
Het |
| Ccdc9 |
C |
A |
7: 16,012,384 (GRCm39) |
W266L |
probably damaging |
Het |
| Cct6b |
C |
A |
11: 82,627,914 (GRCm39) |
|
probably null |
Het |
| Cd177 |
T |
C |
7: 24,456,111 (GRCm39) |
E219G |
probably benign |
Het |
| Cdkal1 |
A |
T |
13: 29,538,667 (GRCm39) |
Y497* |
probably null |
Het |
| Chmp2a |
T |
C |
7: 12,766,371 (GRCm39) |
E107G |
probably damaging |
Het |
| Chrna2 |
T |
G |
14: 66,386,757 (GRCm39) |
V301G |
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,391 (GRCm39) |
C364R |
probably benign |
Het |
| Cltc |
G |
T |
11: 86,603,439 (GRCm39) |
L796I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,610,658 (GRCm39) |
T249A |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,723,129 (GRCm39) |
Q270* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,545,569 (GRCm39) |
V968M |
probably benign |
Het |
| Copb1 |
C |
A |
7: 113,832,517 (GRCm39) |
V511F |
probably benign |
Het |
| Daw1 |
C |
G |
1: 83,174,981 (GRCm39) |
S160R |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,787,590 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
C |
2: 104,552,332 (GRCm39) |
K492E |
possibly damaging |
Het |
| Dmbt1 |
C |
T |
7: 130,699,383 (GRCm39) |
A1004V |
possibly damaging |
Het |
| Dnah7b |
G |
A |
1: 46,280,152 (GRCm39) |
V2694I |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
| Edc4 |
C |
A |
8: 106,617,424 (GRCm39) |
A1052E |
possibly damaging |
Het |
| Eif2s2 |
T |
A |
2: 154,726,278 (GRCm39) |
K129M |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,452,460 (GRCm39) |
D248G |
probably damaging |
Het |
| Erich6b |
T |
C |
14: 75,896,449 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,400 (GRCm39) |
K507E |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,055,953 (GRCm39) |
V195E |
probably damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,828,969 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,890,402 (GRCm39) |
S1007P |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,419,817 (GRCm39) |
I993T |
possibly damaging |
Het |
| Fst |
A |
G |
13: 114,591,038 (GRCm39) |
S244P |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,421,009 (GRCm39) |
T103A |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,274,219 (GRCm39) |
D51G |
possibly damaging |
Het |
| Gm10305 |
A |
G |
4: 99,161,313 (GRCm39) |
D74G |
unknown |
Het |
| Gm12689 |
G |
T |
4: 99,184,258 (GRCm39) |
G37V |
unknown |
Het |
| Gm5424 |
C |
T |
10: 61,907,313 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
T |
C |
9: 14,995,820 (GRCm39) |
E434G |
probably benign |
Het |
| Hoatz |
T |
A |
9: 51,013,253 (GRCm39) |
R6S |
probably benign |
Het |
| Htatip2 |
T |
C |
7: 49,423,059 (GRCm39) |
C205R |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,936,161 (GRCm39) |
|
probably null |
Het |
| Ints2 |
T |
C |
11: 86,124,022 (GRCm39) |
I589V |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,005,733 (GRCm39) |
V299D |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,559,852 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,401,565 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,932,364 (GRCm39) |
|
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,128,667 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,144,883 (GRCm39) |
T406A |
probably benign |
Het |
| Litaf |
A |
T |
16: 10,784,276 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,726 (GRCm39) |
I71F |
probably benign |
Het |
| Lrit3 |
A |
C |
3: 129,582,204 (GRCm39) |
C594W |
probably damaging |
Het |
| Lrp6 |
T |
A |
6: 134,456,738 (GRCm39) |
Q842L |
possibly damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,605,179 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,349,317 (GRCm39) |
L1829* |
probably null |
Het |
| Mapk1ip1 |
T |
C |
7: 138,437,684 (GRCm39) |
T249A |
possibly damaging |
Het |
| Mfap4 |
T |
C |
11: 61,378,006 (GRCm39) |
F173L |
probably damaging |
Het |
| Mfsd9 |
C |
A |
1: 40,829,634 (GRCm39) |
|
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,121,590 (GRCm39) |
S69P |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,306,117 (GRCm39) |
V620D |
probably damaging |
Het |
| Moxd1 |
C |
T |
10: 24,128,852 (GRCm39) |
T201I |
probably damaging |
Het |
| Msh4 |
G |
C |
3: 153,572,057 (GRCm39) |
D774E |
probably benign |
Het |
| Myg1 |
C |
T |
15: 102,240,284 (GRCm39) |
R37C |
probably benign |
Het |
| Myrf |
C |
A |
19: 10,206,246 (GRCm39) |
A57S |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,833,431 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,341,574 (GRCm39) |
|
probably benign |
Het |
| Neil2 |
T |
A |
14: 63,420,849 (GRCm39) |
I281F |
possibly damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,432,035 (GRCm39) |
D26V |
probably benign |
Het |
| Nt5c |
A |
G |
11: 115,381,540 (GRCm39) |
|
probably null |
Het |
| Or13a24 |
T |
G |
7: 140,154,420 (GRCm39) |
M118R |
probably damaging |
Het |
| Or2w1b |
G |
T |
13: 21,300,078 (GRCm39) |
C72F |
probably damaging |
Het |
| Or2z8 |
T |
A |
8: 72,812,166 (GRCm39) |
I214N |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,570 (GRCm39) |
C97R |
possibly damaging |
Het |
| Or5t15 |
T |
C |
2: 86,681,311 (GRCm39) |
T244A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,381,228 (GRCm39) |
S557P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,255,202 (GRCm39) |
S262P |
probably benign |
Het |
| Pla2g6 |
T |
A |
15: 79,190,596 (GRCm39) |
H322L |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,640 (GRCm39) |
L1079Q |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,105,934 (GRCm39) |
V777D |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,196,876 (GRCm39) |
D747G |
possibly damaging |
Het |
| Poln |
C |
A |
5: 34,276,302 (GRCm39) |
V318F |
possibly damaging |
Het |
| Pou5f2 |
T |
A |
13: 78,173,873 (GRCm39) |
S272T |
probably benign |
Het |
| Ppp1r3e |
T |
G |
14: 55,114,073 (GRCm39) |
S200R |
possibly damaging |
Het |
| Prl7d1 |
G |
A |
13: 27,894,165 (GRCm39) |
P135S |
probably benign |
Het |
| Ptgs2 |
G |
A |
1: 149,980,288 (GRCm39) |
V409I |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,415,200 (GRCm39) |
T276A |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,204,921 (GRCm39) |
T747A |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,138 (GRCm39) |
I84T |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,358,118 (GRCm39) |
D102G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,015,971 (GRCm39) |
|
probably benign |
Het |
| Rnf125 |
A |
T |
18: 21,112,140 (GRCm39) |
D57V |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,851 (GRCm39) |
F392L |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,007,670 (GRCm39) |
N435S |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,432,989 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
T |
15: 80,895,937 (GRCm39) |
*751C |
probably null |
Het |
| Slc35c2 |
A |
C |
2: 165,122,849 (GRCm39) |
L145R |
probably damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,757,382 (GRCm38) |
E396V |
probably damaging |
Het |
| Smarca4 |
G |
C |
9: 21,570,280 (GRCm39) |
|
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,336,039 (GRCm39) |
V17D |
probably damaging |
Het |
| Snta1 |
G |
T |
2: 154,218,992 (GRCm39) |
Q448K |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,790,014 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard5 |
A |
G |
7: 83,281,965 (GRCm39) |
R41G |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,660,102 (GRCm39) |
N731I |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,792,996 (GRCm39) |
K413* |
probably null |
Het |
| Tmem38a |
G |
A |
8: 73,333,862 (GRCm39) |
V114I |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,298,282 (GRCm39) |
T1057A |
probably damaging |
Het |
| Ttc23l |
A |
T |
15: 10,540,066 (GRCm39) |
L139Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,640 (GRCm39) |
|
probably null |
Het |
| Tuba3b |
A |
G |
6: 145,565,302 (GRCm39) |
T257A |
probably damaging |
Het |
| Tubgcp6 |
A |
C |
15: 88,985,190 (GRCm39) |
Y1633D |
probably damaging |
Het |
| Txnl1 |
C |
T |
18: 63,804,644 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,182,849 (GRCm39) |
Q3186R |
possibly damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,812,478 (GRCm39) |
S514C |
probably null |
Het |
| Whrn |
G |
A |
4: 63,337,726 (GRCm39) |
T545I |
probably damaging |
Het |
| Zdhhc20 |
T |
C |
14: 58,095,097 (GRCm39) |
H154R |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,007,563 (GRCm39) |
M1L |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,083 (GRCm39) |
K586R |
possibly damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,872 (GRCm39) |
H290L |
possibly damaging |
Het |
| Zfpm1 |
C |
T |
8: 123,063,613 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Scn8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Scn8a
|
APN |
15 |
100,853,413 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00979:Scn8a
|
APN |
15 |
100,853,287 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01339:Scn8a
|
APN |
15 |
100,930,082 (GRCm39) |
missense |
probably benign |
|
|
IGL01992:Scn8a
|
APN |
15 |
100,866,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Scn8a
|
APN |
15 |
100,927,453 (GRCm39) |
splice site |
probably null |
|
|
IGL02311:Scn8a
|
APN |
15 |
100,911,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02404:Scn8a
|
APN |
15 |
100,937,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Scn8a
|
APN |
15 |
100,911,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02690:Scn8a
|
APN |
15 |
100,868,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Scn8a
|
APN |
15 |
100,905,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03084:Scn8a
|
APN |
15 |
100,915,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Scn8a
|
APN |
15 |
100,872,496 (GRCm39) |
missense |
probably benign |
|
|
IGL03224:Scn8a
|
APN |
15 |
100,933,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dan
|
UTSW |
15 |
100,933,505 (GRCm39) |
nonsense |
probably null |
|
|
nymph
|
UTSW |
15 |
100,933,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tremord
|
UTSW |
15 |
100,911,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Scn8a
|
UTSW |
15 |
100,937,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4280001:Scn8a
|
UTSW |
15 |
100,855,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4508001:Scn8a
|
UTSW |
15 |
100,927,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0010:Scn8a
|
UTSW |
15 |
100,911,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Scn8a
|
UTSW |
15 |
100,911,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Scn8a
|
UTSW |
15 |
100,916,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Scn8a
|
UTSW |
15 |
100,906,187 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Scn8a
|
UTSW |
15 |
100,933,505 (GRCm39) |
nonsense |
probably null |
|
|
R0539:Scn8a
|
UTSW |
15 |
100,914,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Scn8a
|
UTSW |
15 |
100,870,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0945:Scn8a
|
UTSW |
15 |
100,913,668 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0967:Scn8a
|
UTSW |
15 |
100,933,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Scn8a
|
UTSW |
15 |
100,938,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1283:Scn8a
|
UTSW |
15 |
100,867,052 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1368:Scn8a
|
UTSW |
15 |
100,933,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Scn8a
|
UTSW |
15 |
100,927,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1669:Scn8a
|
UTSW |
15 |
100,909,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Scn8a
|
UTSW |
15 |
100,853,409 (GRCm39) |
nonsense |
probably null |
|
|
R1735:Scn8a
|
UTSW |
15 |
100,913,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1773:Scn8a
|
UTSW |
15 |
100,937,496 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1940:Scn8a
|
UTSW |
15 |
100,868,085 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1996:Scn8a
|
UTSW |
15 |
100,922,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Scn8a
|
UTSW |
15 |
100,916,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2251:Scn8a
|
UTSW |
15 |
100,914,987 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2516:Scn8a
|
UTSW |
15 |
100,867,043 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2917:Scn8a
|
UTSW |
15 |
100,937,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Scn8a
|
UTSW |
15 |
100,869,549 (GRCm39) |
splice site |
probably benign |
|
|
R3896:Scn8a
|
UTSW |
15 |
100,933,379 (GRCm39) |
missense |
probably benign |
|
|
R4024:Scn8a
|
UTSW |
15 |
100,937,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Scn8a
|
UTSW |
15 |
100,911,294 (GRCm39) |
nonsense |
probably null |
|
|
R4193:Scn8a
|
UTSW |
15 |
100,869,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Scn8a
|
UTSW |
15 |
100,854,954 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4358:Scn8a
|
UTSW |
15 |
100,838,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4396:Scn8a
|
UTSW |
15 |
100,870,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Scn8a
|
UTSW |
15 |
100,881,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Scn8a
|
UTSW |
15 |
100,854,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4631:Scn8a
|
UTSW |
15 |
100,914,384 (GRCm39) |
nonsense |
probably null |
|
|
R4693:Scn8a
|
UTSW |
15 |
100,913,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4765:Scn8a
|
UTSW |
15 |
100,938,352 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4777:Scn8a
|
UTSW |
15 |
100,913,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Scn8a
|
UTSW |
15 |
100,927,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Scn8a
|
UTSW |
15 |
100,854,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5246:Scn8a
|
UTSW |
15 |
100,908,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Scn8a
|
UTSW |
15 |
100,872,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Scn8a
|
UTSW |
15 |
100,870,703 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Scn8a
|
UTSW |
15 |
100,881,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Scn8a
|
UTSW |
15 |
100,881,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Scn8a
|
UTSW |
15 |
100,872,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6114:Scn8a
|
UTSW |
15 |
100,938,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6362:Scn8a
|
UTSW |
15 |
100,837,996 (GRCm39) |
splice site |
probably null |
|
|
R6535:Scn8a
|
UTSW |
15 |
100,857,588 (GRCm39) |
intron |
probably benign |
|
|
R6677:Scn8a
|
UTSW |
15 |
100,866,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Scn8a
|
UTSW |
15 |
100,872,508 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6701:Scn8a
|
UTSW |
15 |
100,937,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6719:Scn8a
|
UTSW |
15 |
100,908,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6739:Scn8a
|
UTSW |
15 |
100,913,836 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6769:Scn8a
|
UTSW |
15 |
100,933,445 (GRCm39) |
missense |
probably benign |
|
|
R6786:Scn8a
|
UTSW |
15 |
100,930,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6849:Scn8a
|
UTSW |
15 |
100,853,468 (GRCm39) |
splice site |
probably null |
|
|
R7108:Scn8a
|
UTSW |
15 |
100,937,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7215:Scn8a
|
UTSW |
15 |
100,927,711 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7217:Scn8a
|
UTSW |
15 |
100,868,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7219:Scn8a
|
UTSW |
15 |
100,866,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Scn8a
|
UTSW |
15 |
100,855,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Scn8a
|
UTSW |
15 |
100,853,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Scn8a
|
UTSW |
15 |
100,908,917 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7985:Scn8a
|
UTSW |
15 |
100,914,843 (GRCm39) |
splice site |
probably null |
|
|
R8112:Scn8a
|
UTSW |
15 |
100,927,718 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8263:Scn8a
|
UTSW |
15 |
100,881,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Scn8a
|
UTSW |
15 |
100,938,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8489:Scn8a
|
UTSW |
15 |
100,867,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Scn8a
|
UTSW |
15 |
100,900,030 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9034:Scn8a
|
UTSW |
15 |
100,927,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9050:Scn8a
|
UTSW |
15 |
100,906,161 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9240:Scn8a
|
UTSW |
15 |
100,915,068 (GRCm39) |
nonsense |
probably null |
|
|
R9249:Scn8a
|
UTSW |
15 |
100,914,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9462:Scn8a
|
UTSW |
15 |
100,930,159 (GRCm39) |
missense |
|
|
|
R9599:Scn8a
|
UTSW |
15 |
100,911,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Scn8a
|
UTSW |
15 |
100,834,407 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9653:Scn8a
|
UTSW |
15 |
100,937,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Scn8a
|
UTSW |
15 |
100,933,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Scn8a
|
UTSW |
15 |
100,937,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Scn8a
|
UTSW |
15 |
100,937,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Scn8a
|
UTSW |
15 |
100,931,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Scn8a
|
UTSW |
15 |
100,938,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGAGGACACTGGACCAGCTATC -3'
(R):5'- CAGCATTTGCACCAAGAGTGCC -3'
Sequencing Primer
(F):5'- CTATCCCAAAGTGGGCTCTG -3'
(R):5'- AGAGCTAGTCACTGCTCTCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation