Incidental Mutation 'R4820:Scn3a'
| ID |
370100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn3a
|
| Ensembl Gene |
ENSMUSG00000057182 |
| Gene Name |
sodium channel, voltage-gated, type III, alpha |
| Synonyms |
Nav1.3, LOC381367 |
| MMRRC Submission |
042436-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4820 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
65287462-65397935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65291622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1708
(I1708N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066432]
[ENSMUST00000100069]
|
| AlphaFold |
A2ASI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066432
AA Change: I1708N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: I1708N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
127 |
435 |
5.2e-83 |
PFAM |
|
low complexity region
|
473 |
498 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
504 |
626 |
2e-42 |
PFAM |
|
Pfam:Ion_trans
|
710 |
945 |
1.4e-58 |
PFAM |
|
Pfam:Na_trans_assoc
|
949 |
1153 |
2.7e-58 |
PFAM |
|
Pfam:Ion_trans
|
1157 |
1430 |
3e-67 |
PFAM |
|
Pfam:Ion_trans
|
1477 |
1734 |
6.3e-55 |
PFAM |
|
Pfam:PKD_channel
|
1573 |
1728 |
8e-7 |
PFAM |
|
IQ
|
1851 |
1873 |
5.75e-2 |
SMART |
|
low complexity region
|
1913 |
1921 |
N/A |
INTRINSIC |
|
low complexity region
|
1927 |
1943 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100069
AA Change: I1708N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: I1708N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
127 |
435 |
5.2e-83 |
PFAM |
|
low complexity region
|
473 |
498 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
504 |
626 |
2e-42 |
PFAM |
|
Pfam:Ion_trans
|
710 |
945 |
1.4e-58 |
PFAM |
|
Pfam:Na_trans_assoc
|
949 |
1153 |
2.7e-58 |
PFAM |
|
Pfam:Ion_trans
|
1157 |
1430 |
3e-67 |
PFAM |
|
Pfam:Ion_trans
|
1477 |
1734 |
6.3e-55 |
PFAM |
|
Pfam:PKD_channel
|
1573 |
1728 |
8e-7 |
PFAM |
|
IQ
|
1851 |
1873 |
5.75e-2 |
SMART |
|
low complexity region
|
1913 |
1921 |
N/A |
INTRINSIC |
|
low complexity region
|
1927 |
1943 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9173 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
96% (104/108) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930488N24Rik |
T |
C |
17: 14,326,481 (GRCm39) |
|
noncoding transcript |
Het |
| 5730455P16Rik |
A |
T |
11: 80,266,346 (GRCm39) |
S132T |
possibly damaging |
Het |
| Aadacl3 |
T |
A |
4: 144,184,527 (GRCm39) |
H77L |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,467,426 (GRCm39) |
V122D |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,071,739 (GRCm39) |
D678G |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,464,708 (GRCm39) |
D1190V |
probably benign |
Het |
| Apbb1ip |
A |
T |
2: 22,765,265 (GRCm39) |
N649Y |
unknown |
Het |
| Atp6v0a1 |
A |
G |
11: 100,933,776 (GRCm39) |
I522V |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,695,809 (GRCm39) |
N1228S |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,124,301 (GRCm39) |
D375G |
probably damaging |
Het |
| Catspere1 |
A |
T |
1: 177,687,441 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc87 |
A |
G |
19: 4,890,579 (GRCm39) |
D357G |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,929,471 (GRCm39) |
S8T |
probably benign |
Het |
| Cfap65 |
C |
T |
1: 74,966,791 (GRCm39) |
A299T |
probably benign |
Het |
| Cic |
T |
C |
7: 24,971,157 (GRCm39) |
V296A |
possibly damaging |
Het |
| Col7a1 |
T |
A |
9: 108,797,675 (GRCm39) |
S1686T |
possibly damaging |
Het |
| Ctbp2 |
A |
C |
7: 132,615,423 (GRCm39) |
L504R |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,918,640 (GRCm39) |
K67E |
probably benign |
Het |
| Cyp2c50 |
C |
T |
19: 40,102,024 (GRCm39) |
P480S |
probably damaging |
Het |
| Dcdc5 |
A |
C |
2: 106,166,420 (GRCm39) |
|
noncoding transcript |
Het |
| Defb2 |
G |
T |
8: 22,333,317 (GRCm39) |
E31* |
probably null |
Het |
| Dhrs1 |
T |
A |
14: 55,977,083 (GRCm39) |
N244I |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,589,978 (GRCm39) |
I134V |
probably benign |
Het |
| Eif1ad11 |
A |
T |
12: 87,994,158 (GRCm39) |
I129F |
unknown |
Het |
| Etl4 |
A |
G |
2: 20,811,496 (GRCm39) |
D1193G |
possibly damaging |
Het |
| Ezh1 |
A |
C |
11: 101,094,594 (GRCm39) |
S399R |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,076 (GRCm39) |
S26P |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,813,383 (GRCm39) |
S2306Y |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,876,512 (GRCm39) |
I2415T |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,252,907 (GRCm39) |
L246P |
probably damaging |
Het |
| Gdf15 |
C |
T |
8: 71,082,246 (GRCm39) |
V287M |
probably damaging |
Het |
| Gm7742 |
T |
C |
17: 21,420,235 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2d |
T |
C |
7: 45,507,363 (GRCm39) |
D446G |
probably damaging |
Het |
| Hemk1 |
A |
G |
9: 107,205,385 (GRCm39) |
F107L |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,796,700 (GRCm39) |
G197S |
probably damaging |
Het |
| Ift52 |
G |
A |
2: 162,873,108 (GRCm39) |
G207D |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,442,816 (GRCm39) |
T275A |
probably benign |
Het |
| Iqcf3 |
T |
C |
9: 106,430,788 (GRCm39) |
|
probably benign |
Het |
| Kcna1 |
A |
G |
6: 126,619,099 (GRCm39) |
I407T |
probably damaging |
Het |
| Kcnrg |
T |
A |
14: 61,845,386 (GRCm39) |
M142K |
probably benign |
Het |
| Lhx9 |
C |
A |
1: 138,766,105 (GRCm39) |
V237L |
probably benign |
Het |
| Lipo3 |
A |
C |
19: 33,560,497 (GRCm39) |
I56S |
probably damaging |
Het |
| Loxhd1 |
C |
G |
18: 77,472,663 (GRCm39) |
P1060R |
probably damaging |
Het |
| Map2k4 |
A |
C |
11: 65,587,201 (GRCm39) |
|
probably benign |
Het |
| Methig1 |
A |
G |
15: 100,251,416 (GRCm39) |
K109R |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,950,027 (GRCm39) |
V326I |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,367,741 (GRCm39) |
R167H |
probably damaging |
Het |
| Ncoa7 |
G |
A |
10: 30,524,472 (GRCm39) |
T142M |
probably damaging |
Het |
| Nfkb2 |
C |
A |
19: 46,296,493 (GRCm39) |
Q254K |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,070,918 (GRCm39) |
E290G |
probably benign |
Het |
| Nol6 |
G |
T |
4: 41,121,508 (GRCm39) |
P278Q |
probably damaging |
Het |
| Nptxr |
T |
A |
15: 79,677,027 (GRCm39) |
D285V |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,688,997 (GRCm39) |
W82R |
probably damaging |
Het |
| Or6b3 |
A |
T |
1: 92,438,812 (GRCm39) |
*313K |
probably null |
Het |
| Or6n1 |
A |
G |
1: 173,916,742 (GRCm39) |
I45M |
possibly damaging |
Het |
| Pa2g4 |
G |
T |
10: 128,395,199 (GRCm39) |
T322K |
probably damaging |
Het |
| Parp16 |
C |
A |
9: 65,145,175 (GRCm39) |
F291L |
probably damaging |
Het |
| Pdzd9 |
A |
T |
7: 120,267,619 (GRCm39) |
D65E |
probably damaging |
Het |
| Pgap3 |
A |
G |
11: 98,281,300 (GRCm39) |
W238R |
probably damaging |
Het |
| Pgf |
G |
A |
12: 85,218,538 (GRCm39) |
H67Y |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,955,679 (GRCm39) |
T413A |
probably benign |
Het |
| Plcxd2 |
A |
T |
16: 45,800,700 (GRCm39) |
C175S |
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,719,517 (GRCm39) |
|
probably benign |
Het |
| Ppfia1 |
T |
G |
7: 144,052,106 (GRCm39) |
N846T |
probably benign |
Het |
| Ppid |
T |
A |
3: 79,502,504 (GRCm39) |
|
probably null |
Het |
| Prkcq |
G |
A |
2: 11,231,797 (GRCm39) |
|
probably null |
Het |
| Ptgds |
T |
C |
2: 25,359,058 (GRCm39) |
K66E |
probably benign |
Het |
| Ptpmt1 |
A |
G |
2: 90,748,283 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3il1 |
G |
A |
19: 10,004,034 (GRCm39) |
G51D |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,974,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Rpl7l1 |
T |
C |
17: 47,089,014 (GRCm39) |
N239S |
probably benign |
Het |
| Rrbp1 |
C |
A |
2: 143,806,685 (GRCm39) |
A978S |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGCCGGCGGCG |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
G |
10: 57,401,466 (GRCm39) |
I109T |
possibly damaging |
Het |
| Shroom1 |
G |
A |
11: 53,355,966 (GRCm39) |
V339I |
probably benign |
Het |
| Slc30a8 |
T |
A |
15: 52,169,880 (GRCm39) |
C36S |
probably benign |
Het |
| Slco1b2 |
A |
G |
6: 141,631,158 (GRCm39) |
I597M |
probably benign |
Het |
| Snx27 |
A |
G |
3: 94,427,518 (GRCm39) |
F228S |
probably damaging |
Het |
| Spata31f1a |
T |
A |
4: 42,851,815 (GRCm39) |
I114F |
probably damaging |
Het |
| Speer4e2 |
G |
T |
5: 15,026,225 (GRCm39) |
T144K |
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,064,571 (GRCm39) |
F214I |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,082,664 (GRCm39) |
T1987A |
probably benign |
Het |
| Tamm41 |
A |
G |
6: 115,002,378 (GRCm39) |
I18T |
possibly damaging |
Het |
| Tmem150b |
T |
A |
7: 4,726,871 (GRCm39) |
D79V |
probably damaging |
Het |
| Tmem167 |
T |
A |
13: 90,252,548 (GRCm39) |
I68N |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,227,204 (GRCm39) |
E339G |
possibly damaging |
Het |
| Tspan12 |
G |
A |
6: 21,795,660 (GRCm39) |
P177S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,783,562 (GRCm39) |
I810T |
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,939,996 (GRCm39) |
T407A |
probably benign |
Het |
| Uroc1 |
G |
A |
6: 90,334,600 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps69 |
T |
C |
7: 84,959,584 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr59 |
T |
C |
8: 112,207,446 (GRCm39) |
N476S |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,196,416 (GRCm39) |
M164V |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,547,097 (GRCm39) |
C1427R |
possibly damaging |
Het |
|
| Other mutations in Scn3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Scn3a
|
APN |
2 |
65,327,736 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01086:Scn3a
|
APN |
2 |
65,300,503 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01141:Scn3a
|
APN |
2 |
65,325,457 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01150:Scn3a
|
APN |
2 |
65,327,709 (GRCm39) |
splice site |
probably null |
|
|
IGL01564:Scn3a
|
APN |
2 |
65,291,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01594:Scn3a
|
APN |
2 |
65,291,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01751:Scn3a
|
APN |
2 |
65,291,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01803:Scn3a
|
APN |
2 |
65,352,127 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01822:Scn3a
|
APN |
2 |
65,325,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Scn3a
|
APN |
2 |
65,291,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Scn3a
|
APN |
2 |
65,356,965 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02198:Scn3a
|
APN |
2 |
65,338,833 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02501:Scn3a
|
APN |
2 |
65,356,899 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02608:Scn3a
|
APN |
2 |
65,354,510 (GRCm39) |
nonsense |
probably null |
|
|
IGL02645:Scn3a
|
APN |
2 |
65,344,871 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02653:Scn3a
|
APN |
2 |
65,291,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Scn3a
|
APN |
2 |
65,367,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03099:Scn3a
|
APN |
2 |
65,367,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03299:Scn3a
|
APN |
2 |
65,327,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03327:Scn3a
|
APN |
2 |
65,367,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03346:Scn3a
|
APN |
2 |
65,367,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03355:Scn3a
|
APN |
2 |
65,290,912 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
curtsey
|
UTSW |
2 |
65,295,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dip
|
UTSW |
2 |
65,354,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
Regime
|
UTSW |
2 |
65,355,194 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Willpower
|
UTSW |
2 |
65,356,098 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0019:Scn3a
|
UTSW |
2 |
65,292,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Scn3a
|
UTSW |
2 |
65,291,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Scn3a
|
UTSW |
2 |
65,338,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0414:Scn3a
|
UTSW |
2 |
65,356,326 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Scn3a
|
UTSW |
2 |
65,366,854 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0613:Scn3a
|
UTSW |
2 |
65,302,628 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0645:Scn3a
|
UTSW |
2 |
65,355,194 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0665:Scn3a
|
UTSW |
2 |
65,314,755 (GRCm39) |
missense |
probably null |
0.00 |
|
R0667:Scn3a
|
UTSW |
2 |
65,314,755 (GRCm39) |
missense |
probably null |
0.00 |
|
R0710:Scn3a
|
UTSW |
2 |
65,299,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1202:Scn3a
|
UTSW |
2 |
65,336,491 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1440:Scn3a
|
UTSW |
2 |
65,359,785 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1447:Scn3a
|
UTSW |
2 |
65,300,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Scn3a
|
UTSW |
2 |
65,344,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1595:Scn3a
|
UTSW |
2 |
65,329,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1775:Scn3a
|
UTSW |
2 |
65,302,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Scn3a
|
UTSW |
2 |
65,302,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Scn3a
|
UTSW |
2 |
65,314,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Scn3a
|
UTSW |
2 |
65,291,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Scn3a
|
UTSW |
2 |
65,291,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Scn3a
|
UTSW |
2 |
65,351,210 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2174:Scn3a
|
UTSW |
2 |
65,337,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2656:Scn3a
|
UTSW |
2 |
65,356,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2680:Scn3a
|
UTSW |
2 |
65,366,880 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3882:Scn3a
|
UTSW |
2 |
65,312,623 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4019:Scn3a
|
UTSW |
2 |
65,356,295 (GRCm39) |
intron |
probably benign |
|
|
R4106:Scn3a
|
UTSW |
2 |
65,325,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4108:Scn3a
|
UTSW |
2 |
65,325,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4109:Scn3a
|
UTSW |
2 |
65,325,379 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4225:Scn3a
|
UTSW |
2 |
65,366,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4419:Scn3a
|
UTSW |
2 |
65,297,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Scn3a
|
UTSW |
2 |
65,354,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4687:Scn3a
|
UTSW |
2 |
65,295,074 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4780:Scn3a
|
UTSW |
2 |
65,336,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Scn3a
|
UTSW |
2 |
65,291,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Scn3a
|
UTSW |
2 |
65,291,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Scn3a
|
UTSW |
2 |
65,291,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Scn3a
|
UTSW |
2 |
65,291,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Scn3a
|
UTSW |
2 |
65,291,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Scn3a
|
UTSW |
2 |
65,302,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Scn3a
|
UTSW |
2 |
65,291,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5128:Scn3a
|
UTSW |
2 |
65,338,862 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5132:Scn3a
|
UTSW |
2 |
65,298,548 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5297:Scn3a
|
UTSW |
2 |
65,299,378 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5595:Scn3a
|
UTSW |
2 |
65,291,057 (GRCm39) |
missense |
probably benign |
|
|
R5699:Scn3a
|
UTSW |
2 |
65,337,608 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5730:Scn3a
|
UTSW |
2 |
65,325,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5735:Scn3a
|
UTSW |
2 |
65,314,803 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5735:Scn3a
|
UTSW |
2 |
65,312,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5855:Scn3a
|
UTSW |
2 |
65,295,074 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5888:Scn3a
|
UTSW |
2 |
65,327,742 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5898:Scn3a
|
UTSW |
2 |
65,345,039 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5935:Scn3a
|
UTSW |
2 |
65,295,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Scn3a
|
UTSW |
2 |
65,325,125 (GRCm39) |
intron |
probably benign |
|
|
R6214:Scn3a
|
UTSW |
2 |
65,325,380 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6215:Scn3a
|
UTSW |
2 |
65,325,380 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6235:Scn3a
|
UTSW |
2 |
65,291,679 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6307:Scn3a
|
UTSW |
2 |
65,302,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6355:Scn3a
|
UTSW |
2 |
65,291,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6376:Scn3a
|
UTSW |
2 |
65,291,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6517:Scn3a
|
UTSW |
2 |
65,327,907 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6775:Scn3a
|
UTSW |
2 |
65,352,159 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6893:Scn3a
|
UTSW |
2 |
65,356,098 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6986:Scn3a
|
UTSW |
2 |
65,338,962 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7065:Scn3a
|
UTSW |
2 |
65,295,199 (GRCm39) |
missense |
probably benign |
|
|
R7078:Scn3a
|
UTSW |
2 |
65,327,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Scn3a
|
UTSW |
2 |
65,313,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Scn3a
|
UTSW |
2 |
65,299,386 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7294:Scn3a
|
UTSW |
2 |
65,302,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Scn3a
|
UTSW |
2 |
65,356,045 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7636:Scn3a
|
UTSW |
2 |
65,328,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7708:Scn3a
|
UTSW |
2 |
65,313,512 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7733:Scn3a
|
UTSW |
2 |
65,338,994 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7761:Scn3a
|
UTSW |
2 |
65,359,798 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7792:Scn3a
|
UTSW |
2 |
65,297,334 (GRCm39) |
nonsense |
probably null |
|
|
R7828:Scn3a
|
UTSW |
2 |
65,338,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7875:Scn3a
|
UTSW |
2 |
65,327,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Scn3a
|
UTSW |
2 |
65,366,859 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7958:Scn3a
|
UTSW |
2 |
65,336,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Scn3a
|
UTSW |
2 |
65,336,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Scn3a
|
UTSW |
2 |
65,361,154 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8345:Scn3a
|
UTSW |
2 |
65,329,335 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8356:Scn3a
|
UTSW |
2 |
65,291,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8456:Scn3a
|
UTSW |
2 |
65,291,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8527:Scn3a
|
UTSW |
2 |
65,327,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8688:Scn3a
|
UTSW |
2 |
65,356,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8731:Scn3a
|
UTSW |
2 |
65,298,507 (GRCm39) |
nonsense |
probably null |
|
|
R8901:Scn3a
|
UTSW |
2 |
65,352,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8910:Scn3a
|
UTSW |
2 |
65,338,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9011:Scn3a
|
UTSW |
2 |
65,352,170 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9364:Scn3a
|
UTSW |
2 |
65,291,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9460:Scn3a
|
UTSW |
2 |
65,300,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Scn3a
|
UTSW |
2 |
65,312,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9542:Scn3a
|
UTSW |
2 |
65,366,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9563:Scn3a
|
UTSW |
2 |
65,291,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Scn3a
|
UTSW |
2 |
65,355,191 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Scn3a
|
UTSW |
2 |
65,297,345 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Scn3a
|
UTSW |
2 |
65,329,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGAGAGCTTGCAGAACTC -3'
(R):5'- GAGGCTGGAATTGATGACATGTTC -3'
Sequencing Primer
(F):5'- GCTTGCAGAACTCTATGAACTGG -3'
(R):5'- GTTCAACTTTGAGACTTTTGGCAAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation