Incidental Mutation 'R7453:Scn10a'
| ID |
577908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn10a
|
| Ensembl Gene |
ENSMUSG00000034533 |
| Gene Name |
sodium channel, voltage-gated, type X, alpha |
| Synonyms |
Nav1.8 |
| MMRRC Submission |
045527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R7453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119437522-119548388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119467618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 841
(V841I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084787]
[ENSMUST00000213392]
[ENSMUST00000214408]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084787
AA Change: V841I
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: V841I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
129 |
406 |
7.9e-77 |
PFAM |
|
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
663 |
898 |
6.8e-53 |
PFAM |
|
Pfam:Na_trans_assoc
|
903 |
1148 |
2.7e-57 |
PFAM |
|
Pfam:Ion_trans
|
1152 |
1429 |
8.1e-66 |
PFAM |
|
Pfam:Ion_trans
|
1476 |
1734 |
1.9e-55 |
PFAM |
|
Pfam:PKD_channel
|
1561 |
1729 |
3.4e-8 |
PFAM |
|
IQ
|
1851 |
1873 |
7.57e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213392
AA Change: V841I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214408
AA Change: V841I
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (122/122) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired perception of pain. Mice homozygous or heterozygous for an ENU-induced allele exhibit a catalepsy phenotype following scruffing and increased sensitivity to cold pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,309 (GRCm39) |
S32P |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,136,136 (GRCm39) |
V497A |
probably benign |
Het |
| Acox1 |
T |
C |
11: 116,071,787 (GRCm39) |
T214A |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,908,430 (GRCm39) |
|
probably null |
Het |
| Adh1 |
G |
A |
3: 137,995,702 (GRCm39) |
|
probably null |
Het |
| Angptl1 |
G |
T |
1: 156,672,421 (GRCm39) |
M82I |
probably benign |
Het |
| Arg1 |
A |
G |
10: 24,791,674 (GRCm39) |
L269P |
probably damaging |
Het |
| Arid2 |
T |
G |
15: 96,268,605 (GRCm39) |
V906G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,078,994 (GRCm39) |
H114Q |
probably benign |
Het |
| Atad5 |
T |
C |
11: 80,009,969 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,729,493 (GRCm39) |
|
probably null |
Het |
| B230104I21Rik |
A |
T |
4: 154,432,185 (GRCm39) |
T44S |
unknown |
Het |
| BC024063 |
G |
A |
10: 81,945,991 (GRCm39) |
R537H |
possibly damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,330,306 (GRCm39) |
L177Q |
probably damaging |
Het |
| Birc5 |
C |
A |
11: 117,743,507 (GRCm39) |
H80Q |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,106,615 (GRCm39) |
L382P |
probably damaging |
Het |
| Ces2c |
A |
T |
8: 105,576,302 (GRCm39) |
N105I |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,141,841 (GRCm39) |
S364P |
possibly damaging |
Het |
| Cflar |
G |
A |
1: 58,792,956 (GRCm39) |
V441M |
|
Het |
| Ckap4 |
A |
G |
10: 84,364,463 (GRCm39) |
V200A |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,462,686 (GRCm39) |
T668N |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,045,421 (GRCm39) |
E1376D |
possibly damaging |
Het |
| Col18a1 |
A |
T |
10: 76,921,044 (GRCm39) |
|
probably null |
Het |
| Coq2 |
T |
C |
5: 100,811,452 (GRCm39) |
Y179C |
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,749,473 (GRCm39) |
E11G |
probably benign |
Het |
| Cr2 |
A |
C |
1: 194,847,565 (GRCm39) |
|
probably null |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,491 (GRCm39) |
D555N |
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 95,990,363 (GRCm39) |
V401D |
possibly damaging |
Het |
| Dbp |
C |
T |
7: 45,355,127 (GRCm39) |
A27V |
probably benign |
Het |
| Dll1 |
C |
A |
17: 15,595,151 (GRCm39) |
R42L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,230,439 (GRCm39) |
H2677Q |
possibly damaging |
Het |
| Efl1 |
G |
T |
7: 82,330,675 (GRCm39) |
V283F |
possibly damaging |
Het |
| Enah |
C |
T |
1: 181,789,470 (GRCm39) |
C7Y |
unknown |
Het |
| Fam193a |
A |
T |
5: 34,621,460 (GRCm39) |
E1139V |
possibly damaging |
Het |
| Fbn1 |
G |
A |
2: 125,162,879 (GRCm39) |
P2136S |
possibly damaging |
Het |
| Fggy |
T |
C |
4: 95,485,927 (GRCm39) |
V91A |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,630,039 (GRCm39) |
D2343V |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,729,781 (GRCm39) |
V54A |
possibly damaging |
Het |
| Glb1l |
T |
A |
1: 75,179,350 (GRCm39) |
Y193F |
probably damaging |
Het |
| Gm45861 |
G |
T |
8: 28,031,686 (GRCm39) |
R867L |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,717,947 (GRCm39) |
D715G |
possibly damaging |
Het |
| Hltf |
A |
T |
3: 20,136,916 (GRCm39) |
R384S |
possibly damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,310 (GRCm39) |
M111T |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,222,654 (GRCm39) |
S136P |
possibly damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,673 (GRCm39) |
C867W |
possibly damaging |
Het |
| Klhdc10 |
T |
A |
6: 30,447,989 (GRCm39) |
|
probably null |
Het |
| Klra10 |
A |
G |
6: 130,257,327 (GRCm39) |
V59A |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,698,091 (GRCm39) |
I223F |
probably damaging |
Het |
| Lrp10 |
G |
A |
14: 54,705,913 (GRCm39) |
G368S |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,046 (GRCm39) |
R374G |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,303 (GRCm39) |
M66L |
probably benign |
Het |
| Mast4 |
C |
T |
13: 102,941,149 (GRCm39) |
|
probably null |
Het |
| Mbp |
C |
T |
18: 82,572,768 (GRCm39) |
H155Y |
probably damaging |
Het |
| Micu3 |
G |
A |
8: 40,788,939 (GRCm39) |
C150Y |
probably benign |
Het |
| Mras |
C |
T |
9: 99,271,793 (GRCm39) |
V174I |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,317,745 (GRCm39) |
I827N |
probably damaging |
Het |
| Ms4a12 |
C |
A |
19: 11,203,026 (GRCm39) |
G101* |
probably null |
Het |
| Mylk2 |
A |
T |
2: 152,754,353 (GRCm39) |
K149M |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,528,346 (GRCm39) |
L1064I |
probably damaging |
Het |
| Naa30 |
A |
G |
14: 49,425,144 (GRCm39) |
*365W |
probably null |
Het |
| Ncoa1 |
C |
T |
12: 4,309,307 (GRCm39) |
G1330R |
probably damaging |
Het |
| Nhlh1 |
T |
A |
1: 171,881,846 (GRCm39) |
T7S |
probably benign |
Het |
| Nipsnap3a |
A |
G |
4: 52,995,882 (GRCm39) |
Q110R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,014,240 (GRCm39) |
Y399H |
possibly damaging |
Het |
| Nsfl1c |
C |
A |
2: 151,351,431 (GRCm39) |
T263K |
possibly damaging |
Het |
| Nup153 |
T |
C |
13: 46,834,657 (GRCm39) |
T1456A |
probably damaging |
Het |
| Or14j10 |
G |
T |
17: 37,935,276 (GRCm39) |
D83E |
probably benign |
Het |
| Or1o2 |
T |
C |
17: 37,542,871 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or51e1 |
T |
A |
7: 102,358,724 (GRCm39) |
I86N |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,436,879 (GRCm39) |
I202F |
possibly damaging |
Het |
| Or5g26 |
T |
A |
2: 85,494,524 (GRCm39) |
M85L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,500 (GRCm39) |
H176L |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,463,491 (GRCm39) |
|
probably null |
Het |
| Pcdhgb2 |
C |
T |
18: 37,824,068 (GRCm39) |
T353I |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,284 (GRCm39) |
H339L |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,731,550 (GRCm39) |
H501R |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,225,284 (GRCm39) |
H1740R |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,967,583 (GRCm39) |
I992N |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,691 (GRCm39) |
T1228M |
possibly damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,509,116 (GRCm39) |
F388L |
probably damaging |
Het |
| Ptpre |
G |
T |
7: 135,139,803 (GRCm39) |
R4L |
unknown |
Het |
| Pzp |
G |
T |
6: 128,463,879 (GRCm39) |
P1410T |
probably damaging |
Het |
| Qrich1 |
A |
C |
9: 108,433,675 (GRCm39) |
K656T |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,808,486 (GRCm39) |
P481S |
probably damaging |
Het |
| Rgs9 |
T |
A |
11: 109,118,094 (GRCm39) |
R579W |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,139,366 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
T |
A |
9: 107,947,607 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
G |
13: 38,125,545 (GRCm39) |
C1284G |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,289 (GRCm39) |
E400G |
probably benign |
Het |
| Rufy4 |
T |
A |
1: 74,168,493 (GRCm39) |
|
probably null |
Het |
| S100pbp |
A |
G |
4: 129,075,878 (GRCm39) |
L149P |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,015,255 (GRCm39) |
D891G |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,351,656 (GRCm39) |
Y775F |
possibly damaging |
Het |
| Sec62 |
A |
T |
3: 30,863,945 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,856,583 (GRCm39) |
M108K |
unknown |
Het |
| Spata22 |
T |
A |
11: 73,226,816 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,208,633 (GRCm39) |
H387R |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,928,522 (GRCm39) |
N118S |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,659,266 (GRCm39) |
S358T |
possibly damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,814,391 (GRCm39) |
F531I |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,437,867 (GRCm39) |
T307A |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,781,651 (GRCm39) |
I811T |
probably damaging |
Het |
| Ttc23l |
T |
C |
15: 10,533,853 (GRCm39) |
Y230C |
probably damaging |
Het |
| Ttll13 |
A |
G |
7: 79,910,182 (GRCm39) |
D775G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,273 (GRCm39) |
K1969R |
unknown |
Het |
| Ube2s |
G |
A |
7: 4,813,435 (GRCm39) |
R110* |
probably null |
Het |
| Ubxn11 |
G |
A |
4: 133,853,540 (GRCm39) |
R364Q |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,958,697 (GRCm39) |
Q773R |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,285,308 (GRCm39) |
V1948A |
probably damaging |
Het |
| Vmn1r205 |
A |
T |
13: 22,776,931 (GRCm39) |
I57N |
probably damaging |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,297 (GRCm39) |
T704S |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,580 (GRCm39) |
S495T |
probably benign |
Het |
| Wiz |
T |
A |
17: 32,598,049 (GRCm39) |
I102F |
probably benign |
Het |
| Zan |
A |
C |
5: 137,464,264 (GRCm39) |
L514V |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,341,008 (GRCm39) |
N1857I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,376,400 (GRCm39) |
|
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,818,474 (GRCm39) |
T506A |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,666,517 (GRCm39) |
N53S |
probably benign |
Het |
|
| Other mutations in Scn10a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Scn10a
|
APN |
9 |
119,501,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Scn10a
|
APN |
9 |
119,451,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01467:Scn10a
|
APN |
9 |
119,487,478 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01472:Scn10a
|
APN |
9 |
119,446,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01481:Scn10a
|
APN |
9 |
119,438,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01539:Scn10a
|
APN |
9 |
119,467,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01580:Scn10a
|
APN |
9 |
119,456,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01676:Scn10a
|
APN |
9 |
119,501,231 (GRCm39) |
nonsense |
probably null |
|
|
IGL01681:Scn10a
|
APN |
9 |
119,523,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01748:Scn10a
|
APN |
9 |
119,456,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01866:Scn10a
|
APN |
9 |
119,464,568 (GRCm39) |
nonsense |
probably null |
|
|
IGL01998:Scn10a
|
APN |
9 |
119,438,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02015:Scn10a
|
APN |
9 |
119,494,017 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02098:Scn10a
|
APN |
9 |
119,520,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02113:Scn10a
|
APN |
9 |
119,438,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02245:Scn10a
|
APN |
9 |
119,501,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Scn10a
|
APN |
9 |
119,487,499 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02317:Scn10a
|
APN |
9 |
119,467,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02428:Scn10a
|
APN |
9 |
119,520,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Scn10a
|
APN |
9 |
119,447,914 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02583:Scn10a
|
APN |
9 |
119,520,506 (GRCm39) |
splice site |
probably benign |
|
|
IGL02597:Scn10a
|
APN |
9 |
119,439,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02680:Scn10a
|
APN |
9 |
119,495,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02733:Scn10a
|
APN |
9 |
119,445,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Scn10a
|
APN |
9 |
119,500,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Scn10a
|
APN |
9 |
119,438,626 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03040:Scn10a
|
APN |
9 |
119,452,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03049:Scn10a
|
APN |
9 |
119,495,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03407:Scn10a
|
APN |
9 |
119,477,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
possum
|
UTSW |
9 |
119,467,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Scn10a
|
UTSW |
9 |
119,499,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Scn10a
|
UTSW |
9 |
119,499,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0328:Scn10a
|
UTSW |
9 |
119,523,168 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0494:Scn10a
|
UTSW |
9 |
119,453,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Scn10a
|
UTSW |
9 |
119,442,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0548:Scn10a
|
UTSW |
9 |
119,494,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0584:Scn10a
|
UTSW |
9 |
119,499,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Scn10a
|
UTSW |
9 |
119,495,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0894:Scn10a
|
UTSW |
9 |
119,459,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1022:Scn10a
|
UTSW |
9 |
119,438,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Scn10a
|
UTSW |
9 |
119,438,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Scn10a
|
UTSW |
9 |
119,446,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Scn10a
|
UTSW |
9 |
119,520,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1466:Scn10a
|
UTSW |
9 |
119,495,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Scn10a
|
UTSW |
9 |
119,495,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Scn10a
|
UTSW |
9 |
119,442,692 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1704:Scn10a
|
UTSW |
9 |
119,438,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Scn10a
|
UTSW |
9 |
119,439,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Scn10a
|
UTSW |
9 |
119,520,520 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2013:Scn10a
|
UTSW |
9 |
119,442,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2155:Scn10a
|
UTSW |
9 |
119,438,514 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2196:Scn10a
|
UTSW |
9 |
119,438,070 (GRCm39) |
missense |
probably benign |
|
|
R2231:Scn10a
|
UTSW |
9 |
119,462,916 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2353:Scn10a
|
UTSW |
9 |
119,467,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Scn10a
|
UTSW |
9 |
119,456,268 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2895:Scn10a
|
UTSW |
9 |
119,490,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2926:Scn10a
|
UTSW |
9 |
119,467,767 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3783:Scn10a
|
UTSW |
9 |
119,520,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Scn10a
|
UTSW |
9 |
119,467,699 (GRCm39) |
missense |
probably benign |
|
|
R4003:Scn10a
|
UTSW |
9 |
119,438,034 (GRCm39) |
missense |
probably null |
0.00 |
|
R4208:Scn10a
|
UTSW |
9 |
119,445,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4231:Scn10a
|
UTSW |
9 |
119,460,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4626:Scn10a
|
UTSW |
9 |
119,460,571 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4702:Scn10a
|
UTSW |
9 |
119,462,857 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4713:Scn10a
|
UTSW |
9 |
119,438,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Scn10a
|
UTSW |
9 |
119,500,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Scn10a
|
UTSW |
9 |
119,451,976 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4822:Scn10a
|
UTSW |
9 |
119,467,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Scn10a
|
UTSW |
9 |
119,523,376 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4856:Scn10a
|
UTSW |
9 |
119,523,375 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4932:Scn10a
|
UTSW |
9 |
119,516,940 (GRCm39) |
splice site |
probably null |
|
|
R5015:Scn10a
|
UTSW |
9 |
119,451,987 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5193:Scn10a
|
UTSW |
9 |
119,438,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5211:Scn10a
|
UTSW |
9 |
119,490,298 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5320:Scn10a
|
UTSW |
9 |
119,477,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Scn10a
|
UTSW |
9 |
119,438,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5448:Scn10a
|
UTSW |
9 |
119,517,013 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5457:Scn10a
|
UTSW |
9 |
119,523,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Scn10a
|
UTSW |
9 |
119,523,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5680:Scn10a
|
UTSW |
9 |
119,453,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Scn10a
|
UTSW |
9 |
119,464,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5935:Scn10a
|
UTSW |
9 |
119,456,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5956:Scn10a
|
UTSW |
9 |
119,460,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Scn10a
|
UTSW |
9 |
119,438,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6047:Scn10a
|
UTSW |
9 |
119,451,897 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6132:Scn10a
|
UTSW |
9 |
119,442,761 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6156:Scn10a
|
UTSW |
9 |
119,464,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6309:Scn10a
|
UTSW |
9 |
119,453,181 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6318:Scn10a
|
UTSW |
9 |
119,456,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Scn10a
|
UTSW |
9 |
119,490,386 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6711:Scn10a
|
UTSW |
9 |
119,438,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Scn10a
|
UTSW |
9 |
119,500,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Scn10a
|
UTSW |
9 |
119,438,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6909:Scn10a
|
UTSW |
9 |
119,438,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Scn10a
|
UTSW |
9 |
119,442,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7205:Scn10a
|
UTSW |
9 |
119,442,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7254:Scn10a
|
UTSW |
9 |
119,447,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7261:Scn10a
|
UTSW |
9 |
119,438,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7283:Scn10a
|
UTSW |
9 |
119,493,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7561:Scn10a
|
UTSW |
9 |
119,523,390 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
R7590:Scn10a
|
UTSW |
9 |
119,495,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Scn10a
|
UTSW |
9 |
119,477,198 (GRCm39) |
nonsense |
probably null |
|
|
R7765:Scn10a
|
UTSW |
9 |
119,438,970 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7851:Scn10a
|
UTSW |
9 |
119,446,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7875:Scn10a
|
UTSW |
9 |
119,464,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7975:Scn10a
|
UTSW |
9 |
119,501,286 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8010:Scn10a
|
UTSW |
9 |
119,490,233 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8027:Scn10a
|
UTSW |
9 |
119,462,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8221:Scn10a
|
UTSW |
9 |
119,446,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8249:Scn10a
|
UTSW |
9 |
119,446,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Scn10a
|
UTSW |
9 |
119,499,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8323:Scn10a
|
UTSW |
9 |
119,438,462 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8539:Scn10a
|
UTSW |
9 |
119,467,840 (GRCm39) |
nonsense |
probably null |
|
|
R8679:Scn10a
|
UTSW |
9 |
119,501,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8680:Scn10a
|
UTSW |
9 |
119,520,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8844:Scn10a
|
UTSW |
9 |
119,446,791 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9011:Scn10a
|
UTSW |
9 |
119,459,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9055:Scn10a
|
UTSW |
9 |
119,451,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9206:Scn10a
|
UTSW |
9 |
119,445,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Scn10a
|
UTSW |
9 |
119,487,504 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9622:Scn10a
|
UTSW |
9 |
119,438,046 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9641:Scn10a
|
UTSW |
9 |
119,445,869 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9651:Scn10a
|
UTSW |
9 |
119,439,063 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0058:Scn10a
|
UTSW |
9 |
119,438,430 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Scn10a
|
UTSW |
9 |
119,453,211 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATTGAACTTCAGAGCTTCATGC -3'
(R):5'- AAGATCATCGGGAACTCTGTGG -3'
Sequencing Primer
(F):5'- TATAGCGAACATGTCACTGGC -3'
(R):5'- AACTCTGTGGGGGCCCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation