Incidental Mutation 'R0627:Scn9a'
ID |
57583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scn9a
|
Ensembl Gene |
ENSMUSG00000075316 |
Gene Name |
sodium channel, voltage-gated, type IX, alpha |
Synonyms |
PN1 |
MMRRC Submission |
038816-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0627 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
66310424-66465306 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66367721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 656
(K656R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100063]
[ENSMUST00000100064]
[ENSMUST00000112354]
[ENSMUST00000164384]
[ENSMUST00000169900]
|
AlphaFold |
Q62205 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100063
AA Change: K656R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000097641 Gene: ENSMUSG00000075316 AA Change: K656R
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
154 |
403 |
9.5e-78 |
PFAM |
coiled coil region
|
404 |
442 |
N/A |
INTRINSIC |
Pfam:DUF3451
|
465 |
685 |
1.3e-62 |
PFAM |
Pfam:Ion_trans
|
768 |
957 |
9.9e-48 |
PFAM |
Pfam:Na_trans_assoc
|
972 |
1191 |
2.9e-72 |
PFAM |
low complexity region
|
1203 |
1214 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1217 |
1445 |
2.8e-55 |
PFAM |
PDB:1BYY|A
|
1447 |
1499 |
9e-27 |
PDB |
Pfam:Ion_trans
|
1538 |
1748 |
3.4e-52 |
PFAM |
Pfam:PKD_channel
|
1599 |
1755 |
1.1e-7 |
PFAM |
IQ
|
1877 |
1899 |
1.03e-3 |
SMART |
low complexity region
|
1956 |
1972 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100064
AA Change: K665R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097642 Gene: ENSMUSG00000075316 AA Change: K665R
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
125 |
412 |
2.2e-84 |
PFAM |
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
Pfam:Na_trans_cytopl
|
483 |
693 |
7.5e-76 |
PFAM |
Pfam:Ion_trans
|
742 |
977 |
4.1e-57 |
PFAM |
Pfam:Na_trans_assoc
|
981 |
1185 |
1.4e-58 |
PFAM |
Pfam:Ion_trans
|
1189 |
1466 |
7e-67 |
PFAM |
Pfam:Ion_trans
|
1512 |
1769 |
1e-55 |
PFAM |
Pfam:PKD_channel
|
1605 |
1763 |
2.6e-7 |
PFAM |
IQ
|
1886 |
1908 |
1.03e-3 |
SMART |
low complexity region
|
1965 |
1981 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112354
AA Change: K654R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107973 Gene: ENSMUSG00000075316 AA Change: K654R
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
154 |
401 |
1.2e-77 |
PFAM |
coiled coil region
|
402 |
449 |
N/A |
INTRINSIC |
Pfam:DUF3451
|
463 |
683 |
1.3e-62 |
PFAM |
Pfam:Ion_trans
|
766 |
955 |
9.9e-48 |
PFAM |
Pfam:Na_trans_assoc
|
970 |
1189 |
2.9e-72 |
PFAM |
low complexity region
|
1201 |
1212 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1215 |
1443 |
2.8e-55 |
PFAM |
PDB:1BYY|A
|
1445 |
1497 |
7e-29 |
PDB |
Pfam:Ion_trans
|
1536 |
1746 |
3.4e-52 |
PFAM |
Pfam:PKD_channel
|
1597 |
1753 |
1.1e-7 |
PFAM |
IQ
|
1875 |
1897 |
1.03e-3 |
SMART |
low complexity region
|
1954 |
1970 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151234
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164384
AA Change: K665R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126528 Gene: ENSMUSG00000075316 AA Change: K665R
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
154 |
401 |
1.1e-77 |
PFAM |
coiled coil region
|
402 |
449 |
N/A |
INTRINSIC |
Pfam:DUF3451
|
463 |
694 |
4.2e-66 |
PFAM |
Pfam:Ion_trans
|
777 |
966 |
8.8e-48 |
PFAM |
Pfam:Na_trans_assoc
|
981 |
1200 |
6e-72 |
PFAM |
low complexity region
|
1212 |
1223 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1226 |
1454 |
2.5e-55 |
PFAM |
PDB:1BYY|A
|
1456 |
1508 |
6e-29 |
PDB |
Pfam:Ion_trans
|
1547 |
1757 |
3e-52 |
PFAM |
Pfam:PKD_channel
|
1608 |
1764 |
8.1e-8 |
PFAM |
IQ
|
1886 |
1908 |
1.03e-3 |
SMART |
low complexity region
|
1965 |
1981 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169900
AA Change: K654R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000131711 Gene: ENSMUSG00000075316 AA Change: K654R
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
154 |
401 |
3.7e-78 |
PFAM |
coiled coil region
|
402 |
449 |
N/A |
INTRINSIC |
Pfam:DUF3451
|
463 |
683 |
1.3e-62 |
PFAM |
Pfam:Ion_trans
|
766 |
955 |
9.9e-48 |
PFAM |
Pfam:Na_trans_assoc
|
970 |
1189 |
2.9e-72 |
PFAM |
low complexity region
|
1201 |
1212 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1215 |
1443 |
2.8e-55 |
PFAM |
PDB:1BYY|A
|
1445 |
1497 |
7e-29 |
PDB |
Pfam:Ion_trans
|
1536 |
1746 |
3.4e-52 |
PFAM |
Pfam:PKD_channel
|
1597 |
1753 |
1.1e-7 |
PFAM |
IQ
|
1875 |
1897 |
1.03e-3 |
SMART |
low complexity region
|
1954 |
1970 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0713 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
Validation Efficiency |
99% (111/112) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 105 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm2 |
T |
A |
15: 89,208,508 (GRCm39) |
Y149* |
probably null |
Het |
Ahi1 |
G |
A |
10: 20,841,421 (GRCm39) |
R236H |
probably benign |
Het |
Armcx4 |
A |
G |
X: 133,596,572 (GRCm39) |
N2160S |
possibly damaging |
Het |
Asns |
A |
T |
6: 7,675,516 (GRCm39) |
D495E |
probably benign |
Het |
Atosb |
G |
T |
4: 43,036,242 (GRCm39) |
P163Q |
probably damaging |
Het |
Bcl9 |
A |
G |
3: 97,112,789 (GRCm39) |
V1222A |
probably damaging |
Het |
Cd46 |
A |
T |
1: 194,774,494 (GRCm39) |
C14S |
probably benign |
Het |
Cdk11b |
T |
A |
4: 155,725,229 (GRCm39) |
|
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,902,135 (GRCm39) |
Y115H |
probably damaging |
Het |
Cep41 |
C |
A |
6: 30,656,630 (GRCm39) |
C274F |
probably damaging |
Het |
Ces1a |
C |
A |
8: 93,768,671 (GRCm39) |
V108F |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,634,020 (GRCm39) |
Y132H |
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,686,781 (GRCm39) |
E1323G |
unknown |
Het |
Cttnbp2 |
A |
G |
6: 18,367,372 (GRCm39) |
*1139Q |
probably null |
Het |
Cyp2d9 |
T |
A |
15: 82,339,991 (GRCm39) |
I127N |
probably damaging |
Het |
Dennd1b |
A |
G |
1: 139,008,957 (GRCm39) |
Y220C |
probably damaging |
Het |
Desi2 |
T |
C |
1: 178,076,918 (GRCm39) |
S141P |
possibly damaging |
Het |
Dgcr2 |
A |
G |
16: 17,661,872 (GRCm39) |
S453P |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,620,138 (GRCm39) |
L1586P |
probably damaging |
Het |
Dpep3 |
T |
C |
8: 106,705,363 (GRCm39) |
D129G |
possibly damaging |
Het |
Eci3 |
C |
T |
13: 35,132,126 (GRCm39) |
V241I |
possibly damaging |
Het |
Ecm2 |
A |
T |
13: 49,674,559 (GRCm39) |
|
probably benign |
Het |
Emilin3 |
A |
G |
2: 160,750,096 (GRCm39) |
L551P |
probably damaging |
Het |
Erap1 |
A |
C |
13: 74,823,933 (GRCm39) |
|
probably benign |
Het |
Ern1 |
T |
C |
11: 106,289,519 (GRCm39) |
D928G |
probably benign |
Het |
Fancc |
C |
A |
13: 63,465,292 (GRCm39) |
A472S |
probably damaging |
Het |
Fkbp7 |
A |
T |
2: 76,503,188 (GRCm39) |
D57E |
probably damaging |
Het |
Gabbr2 |
T |
A |
4: 46,681,223 (GRCm39) |
I703F |
possibly damaging |
Het |
Gabrg3 |
A |
T |
7: 56,374,343 (GRCm39) |
C408S |
probably damaging |
Het |
Gm8674 |
T |
C |
13: 50,053,751 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
G |
A |
2: 174,139,928 (GRCm39) |
|
probably benign |
Het |
Grhl3 |
A |
G |
4: 135,279,992 (GRCm39) |
V354A |
probably benign |
Het |
Gsdme |
G |
T |
6: 50,206,259 (GRCm39) |
|
probably benign |
Het |
H2-D1 |
A |
G |
17: 35,484,898 (GRCm39) |
E253G |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,302,478 (GRCm39) |
T31A |
probably damaging |
Het |
Ifrd1 |
A |
G |
12: 40,256,986 (GRCm39) |
|
probably null |
Het |
Il20 |
A |
G |
1: 130,837,476 (GRCm39) |
|
probably benign |
Het |
Isx |
A |
T |
8: 75,619,328 (GRCm39) |
I160F |
possibly damaging |
Het |
Itgb2l |
T |
G |
16: 96,224,111 (GRCm39) |
|
probably benign |
Het |
Kcnv1 |
T |
G |
15: 44,976,277 (GRCm39) |
|
probably benign |
Het |
Kif17 |
T |
C |
4: 138,015,798 (GRCm39) |
|
probably null |
Het |
Kirrel3 |
A |
C |
9: 34,946,470 (GRCm39) |
D743A |
probably damaging |
Het |
Lmod3 |
T |
C |
6: 97,225,032 (GRCm39) |
D263G |
probably damaging |
Het |
Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
Mark2 |
C |
T |
19: 7,259,325 (GRCm39) |
|
probably null |
Het |
Med10 |
G |
A |
13: 69,963,720 (GRCm39) |
S107N |
possibly damaging |
Het |
Med31 |
A |
G |
11: 72,104,601 (GRCm39) |
|
probably null |
Het |
Mki67 |
C |
A |
7: 135,309,987 (GRCm39) |
A155S |
probably benign |
Het |
Mprip |
T |
A |
11: 59,660,798 (GRCm39) |
L2193Q |
probably damaging |
Het |
Mylk |
A |
G |
16: 34,820,799 (GRCm39) |
N126S |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,489,689 (GRCm39) |
I715V |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,946,700 (GRCm39) |
T1591A |
probably benign |
Het |
Myt1 |
T |
A |
2: 181,437,482 (GRCm39) |
D64E |
probably benign |
Het |
Ndufa10 |
A |
T |
1: 92,397,618 (GRCm39) |
Y61N |
probably damaging |
Het |
Nob1 |
A |
G |
8: 108,142,856 (GRCm39) |
F275S |
probably damaging |
Het |
Nop2 |
T |
C |
6: 125,116,667 (GRCm39) |
V333A |
possibly damaging |
Het |
Ogdh |
T |
A |
11: 6,297,216 (GRCm39) |
V545D |
possibly damaging |
Het |
Or1l4b |
T |
G |
2: 37,036,342 (GRCm39) |
N39K |
probably damaging |
Het |
Or4p21 |
A |
G |
2: 88,276,563 (GRCm39) |
S240P |
probably damaging |
Het |
Or5b107 |
A |
G |
19: 13,142,614 (GRCm39) |
T79A |
probably benign |
Het |
Or5t16 |
T |
C |
2: 86,819,358 (GRCm39) |
N54S |
probably benign |
Het |
Or6d13 |
T |
A |
6: 116,517,949 (GRCm39) |
N178K |
possibly damaging |
Het |
Or6n2 |
G |
T |
1: 173,897,643 (GRCm39) |
V260F |
probably damaging |
Het |
Or9k2b |
A |
G |
10: 130,016,557 (GRCm39) |
F64S |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,398,774 (GRCm39) |
F242L |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,558,155 (GRCm39) |
Y278C |
probably damaging |
Het |
Plxdc1 |
T |
A |
11: 97,823,030 (GRCm39) |
|
probably null |
Het |
Ppp2r5b |
A |
G |
19: 6,282,664 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
C |
A |
4: 144,089,416 (GRCm39) |
L245I |
probably benign |
Het |
Prelid2 |
T |
A |
18: 42,070,717 (GRCm39) |
T39S |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,536,824 (GRCm39) |
F87I |
probably benign |
Het |
Prl3d3 |
C |
T |
13: 27,340,830 (GRCm39) |
T4I |
probably damaging |
Het |
Proser3 |
T |
A |
7: 30,240,208 (GRCm39) |
T299S |
probably benign |
Het |
Ptprc |
G |
T |
1: 137,996,058 (GRCm39) |
H1095N |
probably damaging |
Het |
Rab11fip5 |
G |
T |
6: 85,325,033 (GRCm39) |
P425T |
probably benign |
Het |
Rac2 |
T |
C |
15: 78,449,168 (GRCm39) |
T115A |
probably damaging |
Het |
Rtl9 |
C |
A |
X: 141,884,271 (GRCm39) |
T561K |
possibly damaging |
Het |
Runx2 |
T |
C |
17: 44,969,392 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
C |
T |
3: 79,555,518 (GRCm39) |
V613I |
probably benign |
Het |
Sec31b |
A |
G |
19: 44,514,046 (GRCm39) |
S406P |
probably benign |
Het |
Septin5 |
T |
C |
16: 18,444,115 (GRCm39) |
D44G |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc35c2 |
T |
C |
2: 165,124,056 (GRCm39) |
T94A |
possibly damaging |
Het |
Slc8a3 |
T |
A |
12: 81,361,616 (GRCm39) |
D401V |
probably damaging |
Het |
Slitrk1 |
A |
T |
14: 109,149,671 (GRCm39) |
C347S |
probably damaging |
Het |
Smg1 |
G |
T |
7: 117,767,084 (GRCm39) |
|
probably benign |
Het |
Snx14 |
T |
C |
9: 88,276,483 (GRCm39) |
K610E |
probably benign |
Het |
Spata31e2 |
A |
G |
1: 26,724,970 (GRCm39) |
M70T |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,762,337 (GRCm39) |
|
probably benign |
Het |
Stk-ps2 |
T |
A |
1: 46,068,851 (GRCm39) |
|
noncoding transcript |
Het |
Sult3a1 |
T |
C |
10: 33,740,010 (GRCm39) |
M23T |
probably benign |
Het |
Syt5 |
A |
G |
7: 4,548,682 (GRCm39) |
L50P |
possibly damaging |
Het |
Tacr1 |
A |
G |
6: 82,532,012 (GRCm39) |
I303V |
possibly damaging |
Het |
Trip12 |
C |
A |
1: 84,746,318 (GRCm39) |
V487F |
probably damaging |
Het |
Vcp |
A |
G |
4: 42,983,011 (GRCm39) |
S612P |
possibly damaging |
Het |
Vmn1r47 |
A |
G |
6: 89,999,788 (GRCm39) |
I307V |
probably null |
Het |
Vmn1r83 |
T |
G |
7: 12,055,919 (GRCm39) |
D46A |
probably damaging |
Het |
Vmn2r118 |
G |
T |
17: 55,917,772 (GRCm39) |
Q247K |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,477,427 (GRCm39) |
C328Y |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,372,145 (GRCm39) |
Y13* |
probably null |
Het |
Vps13d |
C |
T |
4: 144,813,754 (GRCm39) |
R3241H |
probably damaging |
Het |
Wdr5b |
A |
G |
16: 35,862,840 (GRCm39) |
T320A |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,302,784 (GRCm39) |
D1733E |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,829,607 (GRCm39) |
|
probably benign |
Het |
Zfp708 |
A |
T |
13: 67,218,781 (GRCm39) |
Y314* |
probably null |
Het |
|
Other mutations in Scn9a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Scn9a
|
APN |
2 |
66,393,945 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00570:Scn9a
|
APN |
2 |
66,314,486 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00809:Scn9a
|
APN |
2 |
66,314,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00977:Scn9a
|
APN |
2 |
66,314,645 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01120:Scn9a
|
APN |
2 |
66,357,316 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01134:Scn9a
|
APN |
2 |
66,335,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01300:Scn9a
|
APN |
2 |
66,318,397 (GRCm39) |
nonsense |
probably null |
|
IGL01452:Scn9a
|
APN |
2 |
66,357,416 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01531:Scn9a
|
APN |
2 |
66,367,722 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01572:Scn9a
|
APN |
2 |
66,324,230 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01645:Scn9a
|
APN |
2 |
66,317,986 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01823:Scn9a
|
APN |
2 |
66,314,386 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01965:Scn9a
|
APN |
2 |
66,314,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Scn9a
|
APN |
2 |
66,325,170 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Scn9a
|
APN |
2 |
66,377,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02166:Scn9a
|
APN |
2 |
66,323,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02183:Scn9a
|
APN |
2 |
66,314,955 (GRCm39) |
splice site |
probably benign |
|
IGL02640:Scn9a
|
APN |
2 |
66,366,440 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02685:Scn9a
|
APN |
2 |
66,367,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02798:Scn9a
|
APN |
2 |
66,370,903 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02832:Scn9a
|
APN |
2 |
66,398,373 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03008:Scn9a
|
APN |
2 |
66,392,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03270:Scn9a
|
APN |
2 |
66,314,358 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03408:Scn9a
|
APN |
2 |
66,357,091 (GRCm39) |
missense |
probably benign |
0.00 |
BB007:Scn9a
|
UTSW |
2 |
66,335,193 (GRCm39) |
missense |
probably damaging |
0.99 |
BB017:Scn9a
|
UTSW |
2 |
66,335,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R0039:Scn9a
|
UTSW |
2 |
66,392,788 (GRCm39) |
missense |
probably damaging |
0.98 |
R0173:Scn9a
|
UTSW |
2 |
66,363,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Scn9a
|
UTSW |
2 |
66,398,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Scn9a
|
UTSW |
2 |
66,335,354 (GRCm39) |
missense |
probably damaging |
0.99 |
R0421:Scn9a
|
UTSW |
2 |
66,373,621 (GRCm39) |
missense |
probably benign |
|
R0465:Scn9a
|
UTSW |
2 |
66,357,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R0514:Scn9a
|
UTSW |
2 |
66,314,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Scn9a
|
UTSW |
2 |
66,357,143 (GRCm39) |
missense |
probably damaging |
0.96 |
R0644:Scn9a
|
UTSW |
2 |
66,363,405 (GRCm39) |
critical splice donor site |
probably null |
|
R0653:Scn9a
|
UTSW |
2 |
66,363,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R0685:Scn9a
|
UTSW |
2 |
66,313,843 (GRCm39) |
missense |
probably benign |
0.02 |
R0718:Scn9a
|
UTSW |
2 |
66,377,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Scn9a
|
UTSW |
2 |
66,366,468 (GRCm39) |
nonsense |
probably null |
|
R0890:Scn9a
|
UTSW |
2 |
66,314,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R1139:Scn9a
|
UTSW |
2 |
66,335,341 (GRCm39) |
missense |
probably benign |
0.02 |
R1385:Scn9a
|
UTSW |
2 |
66,393,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Scn9a
|
UTSW |
2 |
66,314,930 (GRCm39) |
missense |
probably benign |
0.11 |
R1496:Scn9a
|
UTSW |
2 |
66,357,232 (GRCm39) |
missense |
probably benign |
|
R1511:Scn9a
|
UTSW |
2 |
66,357,157 (GRCm39) |
missense |
probably benign |
0.01 |
R1517:Scn9a
|
UTSW |
2 |
66,335,371 (GRCm39) |
splice site |
probably benign |
|
R1564:Scn9a
|
UTSW |
2 |
66,314,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Scn9a
|
UTSW |
2 |
66,318,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1662:Scn9a
|
UTSW |
2 |
66,313,803 (GRCm39) |
missense |
probably benign |
0.00 |
R1695:Scn9a
|
UTSW |
2 |
66,335,220 (GRCm39) |
nonsense |
probably null |
|
R1709:Scn9a
|
UTSW |
2 |
66,313,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R1741:Scn9a
|
UTSW |
2 |
66,317,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1755:Scn9a
|
UTSW |
2 |
66,332,060 (GRCm39) |
missense |
probably benign |
0.38 |
R1914:Scn9a
|
UTSW |
2 |
66,396,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Scn9a
|
UTSW |
2 |
66,314,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Scn9a
|
UTSW |
2 |
66,345,724 (GRCm39) |
missense |
probably damaging |
0.97 |
R2017:Scn9a
|
UTSW |
2 |
66,345,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R2092:Scn9a
|
UTSW |
2 |
66,363,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R2105:Scn9a
|
UTSW |
2 |
66,398,527 (GRCm39) |
missense |
probably benign |
0.25 |
R2114:Scn9a
|
UTSW |
2 |
66,314,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Scn9a
|
UTSW |
2 |
66,314,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Scn9a
|
UTSW |
2 |
66,356,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R2157:Scn9a
|
UTSW |
2 |
66,366,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R2162:Scn9a
|
UTSW |
2 |
66,364,573 (GRCm39) |
missense |
probably damaging |
0.98 |
R2350:Scn9a
|
UTSW |
2 |
66,335,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R3694:Scn9a
|
UTSW |
2 |
66,392,749 (GRCm39) |
missense |
probably benign |
|
R3771:Scn9a
|
UTSW |
2 |
66,313,992 (GRCm39) |
missense |
probably benign |
0.26 |
R3772:Scn9a
|
UTSW |
2 |
66,313,992 (GRCm39) |
missense |
probably benign |
0.26 |
R3773:Scn9a
|
UTSW |
2 |
66,313,992 (GRCm39) |
missense |
probably benign |
0.26 |
R3922:Scn9a
|
UTSW |
2 |
66,357,217 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3926:Scn9a
|
UTSW |
2 |
66,357,217 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4258:Scn9a
|
UTSW |
2 |
66,395,398 (GRCm39) |
intron |
probably benign |
|
R4385:Scn9a
|
UTSW |
2 |
66,314,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R4415:Scn9a
|
UTSW |
2 |
66,357,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Scn9a
|
UTSW |
2 |
66,313,902 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4682:Scn9a
|
UTSW |
2 |
66,377,362 (GRCm39) |
missense |
probably benign |
|
R4783:Scn9a
|
UTSW |
2 |
66,370,967 (GRCm39) |
missense |
probably benign |
0.01 |
R4822:Scn9a
|
UTSW |
2 |
66,314,093 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4829:Scn9a
|
UTSW |
2 |
66,382,057 (GRCm39) |
missense |
probably benign |
|
R4908:Scn9a
|
UTSW |
2 |
66,357,087 (GRCm39) |
missense |
probably benign |
0.03 |
R4983:Scn9a
|
UTSW |
2 |
66,396,614 (GRCm39) |
missense |
probably benign |
0.02 |
R5047:Scn9a
|
UTSW |
2 |
66,392,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R5100:Scn9a
|
UTSW |
2 |
66,364,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R5140:Scn9a
|
UTSW |
2 |
66,395,511 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5398:Scn9a
|
UTSW |
2 |
66,318,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:Scn9a
|
UTSW |
2 |
66,377,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R5582:Scn9a
|
UTSW |
2 |
66,395,373 (GRCm39) |
intron |
probably benign |
|
R6108:Scn9a
|
UTSW |
2 |
66,314,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Scn9a
|
UTSW |
2 |
66,393,973 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6143:Scn9a
|
UTSW |
2 |
66,317,868 (GRCm39) |
missense |
probably benign |
0.00 |
R6261:Scn9a
|
UTSW |
2 |
66,314,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Scn9a
|
UTSW |
2 |
66,398,608 (GRCm39) |
start codon destroyed |
possibly damaging |
0.91 |
R6429:Scn9a
|
UTSW |
2 |
66,357,307 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6632:Scn9a
|
UTSW |
2 |
66,313,846 (GRCm39) |
missense |
probably benign |
0.23 |
R6681:Scn9a
|
UTSW |
2 |
66,393,686 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6830:Scn9a
|
UTSW |
2 |
66,398,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Scn9a
|
UTSW |
2 |
66,379,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7186:Scn9a
|
UTSW |
2 |
66,364,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7243:Scn9a
|
UTSW |
2 |
66,370,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7311:Scn9a
|
UTSW |
2 |
66,314,748 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7328:Scn9a
|
UTSW |
2 |
66,314,931 (GRCm39) |
missense |
probably benign |
|
R7386:Scn9a
|
UTSW |
2 |
66,370,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Scn9a
|
UTSW |
2 |
66,377,531 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7483:Scn9a
|
UTSW |
2 |
66,363,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R7485:Scn9a
|
UTSW |
2 |
66,364,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Scn9a
|
UTSW |
2 |
66,313,990 (GRCm39) |
missense |
probably benign |
|
R7617:Scn9a
|
UTSW |
2 |
66,370,893 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7642:Scn9a
|
UTSW |
2 |
66,366,580 (GRCm39) |
missense |
probably benign |
0.02 |
R7653:Scn9a
|
UTSW |
2 |
66,357,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Scn9a
|
UTSW |
2 |
66,314,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Scn9a
|
UTSW |
2 |
66,314,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7864:Scn9a
|
UTSW |
2 |
66,314,904 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7890:Scn9a
|
UTSW |
2 |
66,373,456 (GRCm39) |
missense |
probably benign |
0.00 |
R7930:Scn9a
|
UTSW |
2 |
66,335,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R7975:Scn9a
|
UTSW |
2 |
66,314,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R8057:Scn9a
|
UTSW |
2 |
66,345,774 (GRCm39) |
missense |
probably benign |
0.06 |
R8145:Scn9a
|
UTSW |
2 |
66,317,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Scn9a
|
UTSW |
2 |
66,314,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Scn9a
|
UTSW |
2 |
66,370,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R8342:Scn9a
|
UTSW |
2 |
66,366,626 (GRCm39) |
missense |
probably benign |
|
R8345:Scn9a
|
UTSW |
2 |
66,324,966 (GRCm39) |
missense |
probably damaging |
0.96 |
R8464:Scn9a
|
UTSW |
2 |
66,396,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R8467:Scn9a
|
UTSW |
2 |
66,332,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Scn9a
|
UTSW |
2 |
66,366,628 (GRCm39) |
missense |
probably benign |
0.00 |
R8810:Scn9a
|
UTSW |
2 |
66,332,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Scn9a
|
UTSW |
2 |
66,370,979 (GRCm39) |
missense |
probably damaging |
0.99 |
R8829:Scn9a
|
UTSW |
2 |
66,313,961 (GRCm39) |
missense |
probably benign |
|
R9009:Scn9a
|
UTSW |
2 |
66,338,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Scn9a
|
UTSW |
2 |
66,325,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R9126:Scn9a
|
UTSW |
2 |
66,314,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R9205:Scn9a
|
UTSW |
2 |
66,363,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R9300:Scn9a
|
UTSW |
2 |
66,335,236 (GRCm39) |
missense |
probably benign |
0.39 |
R9373:Scn9a
|
UTSW |
2 |
66,314,261 (GRCm39) |
missense |
probably benign |
0.00 |
R9404:Scn9a
|
UTSW |
2 |
66,357,040 (GRCm39) |
missense |
probably benign |
0.02 |
R9443:Scn9a
|
UTSW |
2 |
66,395,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R9590:Scn9a
|
UTSW |
2 |
66,314,328 (GRCm39) |
missense |
probably benign |
0.05 |
R9612:Scn9a
|
UTSW |
2 |
66,363,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R9617:Scn9a
|
UTSW |
2 |
66,392,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Scn9a
|
UTSW |
2 |
66,357,002 (GRCm39) |
missense |
probably benign |
|
X0003:Scn9a
|
UTSW |
2 |
66,338,991 (GRCm39) |
missense |
probably benign |
0.02 |
X0062:Scn9a
|
UTSW |
2 |
66,398,421 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Scn9a
|
UTSW |
2 |
66,370,936 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Scn9a
|
UTSW |
2 |
66,325,029 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGACGCTCAAGGGATTTTAACTCCTC -3'
(R):5'- TGAACATGTGCCCTTTTGAACACAAC -3'
Sequencing Primer
(F):5'- TCACACATCCCTTTAAATGTGAC -3'
(R):5'- CCTTTTGAACACAACTAGAAAGTAGC -3'
|
Posted On |
2013-07-11 |