Incidental Mutation 'R1970:Scn7a'
| ID |
219633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn7a
|
| Ensembl Gene |
ENSMUSG00000034810 |
| Gene Name |
sodium channel, voltage-gated, type VII, alpha |
| Synonyms |
NaG, Nav2, Nav2.3, Nax, Scn6a |
| MMRRC Submission |
039983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R1970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
66673425-66784914 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66684289 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1047
(V1047A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042792]
|
| AlphaFold |
B1AYL1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042792
AA Change: V1047A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: V1047A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
118 |
405 |
4.7e-53 |
PFAM |
|
coiled coil region
|
415 |
443 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
505 |
739 |
5.8e-36 |
PFAM |
|
Pfam:Na_trans_assoc
|
741 |
929 |
4.1e-17 |
PFAM |
|
Pfam:Ion_trans
|
933 |
1204 |
3e-49 |
PFAM |
|
Pfam:Ion_trans
|
1250 |
1505 |
5e-37 |
PFAM |
|
IQ
|
1624 |
1646 |
6.4e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.4197 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
97% (121/125) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 121 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,307,575 (GRCm38) |
H578Q |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 86,527,281 (GRCm38) |
I958T |
probably benign |
Het |
| Abcg5 |
AATCATTTG |
AG |
17: 84,673,602 (GRCm38) |
|
probably null |
Het |
| Acap2 |
A |
G |
16: 31,133,527 (GRCm38) |
|
probably null |
Het |
| Adgrb1 |
T |
C |
15: 74,539,877 (GRCm38) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,938,475 (GRCm38) |
V897E |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,215,169 (GRCm38) |
L343Q |
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,542,593 (GRCm38) |
I1275M |
probably damaging |
Het |
| Arnt |
C |
T |
3: 95,448,393 (GRCm38) |
S16L |
possibly damaging |
Het |
| Bglap3 |
C |
T |
3: 88,376,993 (GRCm38) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,940,165 (GRCm38) |
|
probably benign |
Het |
| C1qtnf4 |
T |
C |
2: 90,889,659 (GRCm38) |
M92T |
probably damaging |
Het |
| C77080 |
A |
G |
4: 129,226,017 (GRCm38) |
|
probably benign |
Het |
| Ccdc177 |
G |
A |
12: 80,758,712 (GRCm38) |
R263C |
unknown |
Het |
| Ccdc83 |
T |
A |
7: 90,244,154 (GRCm38) |
S132C |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 106,973,074 (GRCm38) |
|
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,725,535 (GRCm38) |
N178I |
probably benign |
Het |
| Col27a1 |
C |
T |
4: 63,273,117 (GRCm38) |
|
probably benign |
Het |
| Col5a1 |
A |
T |
2: 27,986,754 (GRCm38) |
M822L |
unknown |
Het |
| Coro7 |
T |
C |
16: 4,633,756 (GRCm38) |
I451V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,673,531 (GRCm38) |
T92A |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,815,292 (GRCm38) |
V460A |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,600,013 (GRCm38) |
V608I |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 61,972,206 (GRCm38) |
H676L |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,148,989 (GRCm38) |
E48G |
probably benign |
Het |
| Dpf3 |
T |
A |
12: 83,325,035 (GRCm38) |
|
probably null |
Het |
| Dydc2 |
A |
G |
14: 41,061,903 (GRCm38) |
C88R |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,780,719 (GRCm38) |
Y163H |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,882,982 (GRCm38) |
D296G |
probably damaging |
Het |
| Fam83h |
G |
T |
15: 76,006,570 (GRCm38) |
|
probably benign |
Het |
| Fbf1 |
T |
A |
11: 116,151,491 (GRCm38) |
Q511L |
possibly damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,454,851 (GRCm38) |
L323Q |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 53,105,576 (GRCm38) |
V437D |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,197,262 (GRCm38) |
S420P |
probably benign |
Het |
| Foxp4 |
C |
T |
17: 47,875,871 (GRCm38) |
R378Q |
unknown |
Het |
| Garem2 |
G |
T |
5: 30,117,174 (GRCm38) |
G844* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,327,870 (GRCm38) |
L269S |
probably damaging |
Het |
| Gm2000 |
T |
G |
1: 156,366,447 (GRCm38) |
*124G |
probably null |
Het |
| Gm9915 |
T |
C |
1: 42,230,721 (GRCm38) |
|
noncoding transcript |
Het |
| Gnb4 |
A |
T |
3: 32,598,141 (GRCm38) |
D27E |
probably damaging |
Het |
| Gnb5 |
A |
G |
9: 75,344,650 (GRCm38) |
|
probably null |
Het |
| Gpr161 |
T |
G |
1: 165,306,358 (GRCm38) |
V63G |
probably damaging |
Het |
| Gsk3a |
T |
A |
7: 25,229,721 (GRCm38) |
|
probably benign |
Het |
| Hapln2 |
T |
C |
3: 88,024,120 (GRCm38) |
|
probably null |
Het |
| Incenp |
G |
T |
19: 9,885,487 (GRCm38) |
T401N |
unknown |
Het |
| Kalrn |
A |
G |
16: 33,977,524 (GRCm38) |
|
probably null |
Het |
| Kcnq3 |
A |
G |
15: 66,028,623 (GRCm38) |
|
probably null |
Het |
| Kif21b |
T |
C |
1: 136,171,156 (GRCm38) |
V1394A |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,833,686 (GRCm38) |
C460R |
probably damaging |
Het |
| L3mbtl1 |
G |
A |
2: 162,959,572 (GRCm38) |
A291T |
probably damaging |
Het |
| Lcp1 |
T |
C |
14: 75,200,506 (GRCm38) |
S119P |
probably damaging |
Het |
| Ldhc |
A |
G |
7: 46,869,751 (GRCm38) |
I133V |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 141,212,059 (GRCm38) |
|
probably benign |
Het |
| Lpl |
A |
T |
8: 68,896,802 (GRCm38) |
K327* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 40,875,069 (GRCm38) |
D2801G |
probably damaging |
Het |
| Mppe1 |
C |
A |
18: 67,229,772 (GRCm38) |
A131S |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,249,820 (GRCm38) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,033,600 (GRCm38) |
I377T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,368,773 (GRCm38) |
F757L |
probably benign |
Het |
| Myof |
A |
T |
19: 37,945,634 (GRCm38) |
D955E |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,517,942 (GRCm38) |
S889N |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,038,918 (GRCm38) |
D858G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,263,905 (GRCm38) |
V2398D |
possibly damaging |
Het |
| Nefl |
C |
G |
14: 68,086,672 (GRCm38) |
T453R |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,553,961 (GRCm38) |
N371D |
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,194,091 (GRCm38) |
Y580C |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,652,322 (GRCm38) |
L228R |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 102,009,322 (GRCm38) |
A1605V |
probably damaging |
Het |
| Ofd1 |
T |
C |
X: 166,427,214 (GRCm38) |
Y205C |
probably benign |
Het |
| Olfr1047 |
T |
A |
2: 86,228,252 (GRCm38) |
T240S |
probably damaging |
Het |
| Olfr1283 |
C |
T |
2: 111,369,076 (GRCm38) |
S148L |
probably benign |
Het |
| Olfr1532-ps1 |
G |
A |
7: 106,914,246 (GRCm38) |
G16D |
probably damaging |
Het |
| Olfr693 |
T |
A |
7: 106,677,670 (GRCm38) |
N272I |
probably damaging |
Het |
| Olfr972 |
T |
A |
9: 39,873,938 (GRCm38) |
I221N |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,713,473 (GRCm38) |
T3987A |
unknown |
Het |
| Pdgfrb |
G |
A |
18: 61,066,494 (GRCm38) |
|
probably benign |
Het |
| Pdxk |
G |
A |
10: 78,441,154 (GRCm38) |
T270I |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,414,405 (GRCm38) |
E10G |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,900,386 (GRCm38) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,381,523 (GRCm38) |
I2183F |
probably damaging |
Het |
| Plppr2 |
T |
C |
9: 21,941,126 (GRCm38) |
V102A |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,962,517 (GRCm38) |
T1449A |
probably damaging |
Het |
| Pnkd |
T |
A |
1: 74,285,910 (GRCm38) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 21,983,472 (GRCm38) |
I638V |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,129,160 (GRCm38) |
|
probably null |
Het |
| Ranbp10 |
A |
G |
8: 105,786,708 (GRCm38) |
F191L |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,733,711 (GRCm38) |
L824P |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,624,142 (GRCm38) |
L418P |
probably damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,797,241 (GRCm38) |
N429Y |
probably damaging |
Het |
| Rpe65 |
C |
A |
3: 159,615,670 (GRCm38) |
T373K |
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,789,074 (GRCm38) |
S151P |
probably damaging |
Het |
| Scn9a |
G |
T |
2: 66,515,380 (GRCm38) |
P1123Q |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,747,510 (GRCm38) |
D706G |
probably damaging |
Het |
| Serpina5 |
A |
T |
12: 104,103,857 (GRCm38) |
T338S |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,954,068 (GRCm38) |
|
probably null |
Het |
| Shisa4 |
C |
T |
1: 135,372,274 (GRCm38) |
G157D |
probably damaging |
Het |
| Slc1a7 |
G |
T |
4: 107,968,585 (GRCm38) |
D14Y |
probably benign |
Het |
| Slc25a11 |
A |
C |
11: 70,646,173 (GRCm38) |
L51V |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,630,841 (GRCm38) |
|
probably null |
Het |
| Spata13 |
G |
T |
14: 60,691,463 (GRCm38) |
G157W |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,240,367 (GRCm38) |
V2120A |
possibly damaging |
Het |
| Srpr |
T |
C |
9: 35,213,538 (GRCm38) |
|
probably null |
Het |
| Syt6 |
A |
G |
3: 103,587,420 (GRCm38) |
I234V |
probably benign |
Het |
| Thada |
G |
T |
17: 84,310,042 (GRCm38) |
P1349T |
probably damaging |
Het |
| Tmem161a |
C |
T |
8: 70,176,909 (GRCm38) |
R58W |
probably damaging |
Het |
| Top3b |
A |
G |
16: 16,883,519 (GRCm38) |
I232V |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,163,629 (GRCm38) |
Q197L |
possibly damaging |
Het |
| Ttc28 |
A |
C |
5: 111,235,635 (GRCm38) |
Y1334S |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,073,077 (GRCm38) |
N28K |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,151,781 (GRCm38) |
D1366G |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,328,942 (GRCm38) |
S415P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,689,038 (GRCm38) |
S2796T |
probably damaging |
Het |
| Vipr2 |
T |
C |
12: 116,136,206 (GRCm38) |
V231A |
probably benign |
Het |
| Vmn1r176 |
T |
C |
7: 23,834,948 (GRCm38) |
N260S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,454,039 (GRCm38) |
Y241N |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 85,151,805 (GRCm38) |
Y308N |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 86,148,262 (GRCm38) |
M781K |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,780,171 (GRCm38) |
I500F |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,795,277 (GRCm38) |
V31A |
probably damaging |
Het |
| Zfp689 |
G |
T |
7: 127,444,787 (GRCm38) |
Q224K |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,335,501 (GRCm38) |
L113H |
probably benign |
Het |
|
| Other mutations in Scn7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Scn7a
|
APN |
2 |
66,683,327 (GRCm38) |
splice site |
probably benign |
|
|
IGL00432:Scn7a
|
APN |
2 |
66,741,982 (GRCm38) |
nonsense |
probably null |
|
|
IGL00720:Scn7a
|
APN |
2 |
66,676,044 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL00783:Scn7a
|
APN |
2 |
66,692,564 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00784:Scn7a
|
APN |
2 |
66,692,564 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00926:Scn7a
|
APN |
2 |
66,684,131 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL00963:Scn7a
|
APN |
2 |
66,703,945 (GRCm38) |
splice site |
probably benign |
|
|
IGL01099:Scn7a
|
APN |
2 |
66,684,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01326:Scn7a
|
APN |
2 |
66,752,260 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01538:Scn7a
|
APN |
2 |
66,703,852 (GRCm38) |
missense |
probably benign |
|
|
IGL01624:Scn7a
|
APN |
2 |
66,751,925 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01794:Scn7a
|
APN |
2 |
66,675,509 (GRCm38) |
missense |
probably benign |
|
|
IGL02100:Scn7a
|
APN |
2 |
66,675,499 (GRCm38) |
makesense |
probably null |
|
|
IGL02326:Scn7a
|
APN |
2 |
66,700,048 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02472:Scn7a
|
APN |
2 |
66,752,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02528:Scn7a
|
APN |
2 |
66,700,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02798:Scn7a
|
APN |
2 |
66,713,875 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03026:Scn7a
|
APN |
2 |
66,676,098 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03071:Scn7a
|
APN |
2 |
66,699,947 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03080:Scn7a
|
APN |
2 |
66,697,816 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03180:Scn7a
|
APN |
2 |
66,676,234 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03337:Scn7a
|
APN |
2 |
66,675,960 (GRCm38) |
missense |
probably benign |
0.00 |
|
alert
|
UTSW |
2 |
66,680,246 (GRCm38) |
nonsense |
probably null |
|
|
glimmer
|
UTSW |
2 |
66,743,703 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Uptick
|
UTSW |
2 |
66,700,049 (GRCm38) |
nonsense |
probably null |
|
|
PIT4514001:Scn7a
|
UTSW |
2 |
66,684,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0004:Scn7a
|
UTSW |
2 |
66,687,795 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0076:Scn7a
|
UTSW |
2 |
66,714,037 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0230:Scn7a
|
UTSW |
2 |
66,726,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0463:Scn7a
|
UTSW |
2 |
66,675,740 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0846:Scn7a
|
UTSW |
2 |
66,697,600 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1237:Scn7a
|
UTSW |
2 |
66,680,295 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1282:Scn7a
|
UTSW |
2 |
66,700,849 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1467:Scn7a
|
UTSW |
2 |
66,689,558 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1467:Scn7a
|
UTSW |
2 |
66,689,558 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1501:Scn7a
|
UTSW |
2 |
66,700,163 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1672:Scn7a
|
UTSW |
2 |
66,697,600 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1690:Scn7a
|
UTSW |
2 |
66,675,943 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1712:Scn7a
|
UTSW |
2 |
66,705,103 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1758:Scn7a
|
UTSW |
2 |
66,700,887 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1758:Scn7a
|
UTSW |
2 |
66,680,183 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1775:Scn7a
|
UTSW |
2 |
66,680,955 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1848:Scn7a
|
UTSW |
2 |
66,684,013 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1851:Scn7a
|
UTSW |
2 |
66,680,291 (GRCm38) |
missense |
probably benign |
|
|
R1919:Scn7a
|
UTSW |
2 |
66,699,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1932:Scn7a
|
UTSW |
2 |
66,676,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1945:Scn7a
|
UTSW |
2 |
66,675,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1998:Scn7a
|
UTSW |
2 |
66,683,269 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2008:Scn7a
|
UTSW |
2 |
66,687,747 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2038:Scn7a
|
UTSW |
2 |
66,737,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Scn7a
|
UTSW |
2 |
66,675,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2128:Scn7a
|
UTSW |
2 |
66,697,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2163:Scn7a
|
UTSW |
2 |
66,675,956 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2421:Scn7a
|
UTSW |
2 |
66,726,302 (GRCm38) |
splice site |
probably benign |
|
|
R2446:Scn7a
|
UTSW |
2 |
66,692,658 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2922:Scn7a
|
UTSW |
2 |
66,700,207 (GRCm38) |
splice site |
probably benign |
|
|
R3015:Scn7a
|
UTSW |
2 |
66,699,896 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3034:Scn7a
|
UTSW |
2 |
66,682,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3419:Scn7a
|
UTSW |
2 |
66,700,895 (GRCm38) |
frame shift |
probably null |
|
|
R3429:Scn7a
|
UTSW |
2 |
66,700,895 (GRCm38) |
frame shift |
probably null |
|
|
R3430:Scn7a
|
UTSW |
2 |
66,700,895 (GRCm38) |
frame shift |
probably null |
|
|
R3434:Scn7a
|
UTSW |
2 |
66,675,503 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3803:Scn7a
|
UTSW |
2 |
66,680,246 (GRCm38) |
nonsense |
probably null |
|
|
R3831:Scn7a
|
UTSW |
2 |
66,697,684 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3833:Scn7a
|
UTSW |
2 |
66,697,684 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4017:Scn7a
|
UTSW |
2 |
66,741,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4244:Scn7a
|
UTSW |
2 |
66,742,001 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4245:Scn7a
|
UTSW |
2 |
66,742,001 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4276:Scn7a
|
UTSW |
2 |
66,684,063 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4307:Scn7a
|
UTSW |
2 |
66,675,755 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4327:Scn7a
|
UTSW |
2 |
66,737,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4353:Scn7a
|
UTSW |
2 |
66,676,436 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4721:Scn7a
|
UTSW |
2 |
66,684,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4722:Scn7a
|
UTSW |
2 |
66,700,884 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4781:Scn7a
|
UTSW |
2 |
66,703,760 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4792:Scn7a
|
UTSW |
2 |
66,726,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5362:Scn7a
|
UTSW |
2 |
66,699,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5437:Scn7a
|
UTSW |
2 |
66,676,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5729:Scn7a
|
UTSW |
2 |
66,741,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5777:Scn7a
|
UTSW |
2 |
66,692,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5785:Scn7a
|
UTSW |
2 |
66,697,568 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5821:Scn7a
|
UTSW |
2 |
66,743,703 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5830:Scn7a
|
UTSW |
2 |
66,714,051 (GRCm38) |
nonsense |
probably null |
|
|
R5877:Scn7a
|
UTSW |
2 |
66,699,873 (GRCm38) |
nonsense |
probably null |
|
|
R5881:Scn7a
|
UTSW |
2 |
66,675,526 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5967:Scn7a
|
UTSW |
2 |
66,675,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5988:Scn7a
|
UTSW |
2 |
66,726,214 (GRCm38) |
nonsense |
probably null |
|
|
R6077:Scn7a
|
UTSW |
2 |
66,697,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6135:Scn7a
|
UTSW |
2 |
66,703,900 (GRCm38) |
missense |
probably benign |
|
|
R6242:Scn7a
|
UTSW |
2 |
66,700,766 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6264:Scn7a
|
UTSW |
2 |
66,675,526 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6291:Scn7a
|
UTSW |
2 |
66,700,114 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6544:Scn7a
|
UTSW |
2 |
66,684,100 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6770:Scn7a
|
UTSW |
2 |
66,729,184 (GRCm38) |
splice site |
probably null |
|
|
R6997:Scn7a
|
UTSW |
2 |
66,703,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7014:Scn7a
|
UTSW |
2 |
66,741,959 (GRCm38) |
missense |
probably null |
1.00 |
|
R7126:Scn7a
|
UTSW |
2 |
66,757,286 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7129:Scn7a
|
UTSW |
2 |
66,700,193 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7176:Scn7a
|
UTSW |
2 |
66,676,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7185:Scn7a
|
UTSW |
2 |
66,687,795 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7276:Scn7a
|
UTSW |
2 |
66,757,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7332:Scn7a
|
UTSW |
2 |
66,692,554 (GRCm38) |
nonsense |
probably null |
|
|
R7421:Scn7a
|
UTSW |
2 |
66,675,532 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7488:Scn7a
|
UTSW |
2 |
66,757,230 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7636:Scn7a
|
UTSW |
2 |
66,743,828 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7685:Scn7a
|
UTSW |
2 |
66,676,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7711:Scn7a
|
UTSW |
2 |
66,700,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7813:Scn7a
|
UTSW |
2 |
66,676,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7833:Scn7a
|
UTSW |
2 |
66,676,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7914:Scn7a
|
UTSW |
2 |
66,699,950 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7953:Scn7a
|
UTSW |
2 |
66,757,326 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7970:Scn7a
|
UTSW |
2 |
66,675,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8061:Scn7a
|
UTSW |
2 |
66,692,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8121:Scn7a
|
UTSW |
2 |
66,700,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8172:Scn7a
|
UTSW |
2 |
66,675,847 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8209:Scn7a
|
UTSW |
2 |
66,700,860 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8226:Scn7a
|
UTSW |
2 |
66,700,860 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8288:Scn7a
|
UTSW |
2 |
66,675,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8431:Scn7a
|
UTSW |
2 |
66,703,820 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8678:Scn7a
|
UTSW |
2 |
66,743,697 (GRCm38) |
splice site |
probably benign |
|
|
R8745:Scn7a
|
UTSW |
2 |
66,680,182 (GRCm38) |
missense |
probably benign |
|
|
R8781:Scn7a
|
UTSW |
2 |
66,737,431 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8848:Scn7a
|
UTSW |
2 |
66,700,049 (GRCm38) |
nonsense |
probably null |
|
|
R8878:Scn7a
|
UTSW |
2 |
66,675,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8943:Scn7a
|
UTSW |
2 |
66,694,862 (GRCm38) |
synonymous |
silent |
|
|
R8991:Scn7a
|
UTSW |
2 |
66,684,244 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9147:Scn7a
|
UTSW |
2 |
66,684,163 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9148:Scn7a
|
UTSW |
2 |
66,684,163 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9402:Scn7a
|
UTSW |
2 |
66,680,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9501:Scn7a
|
UTSW |
2 |
66,752,235 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9546:Scn7a
|
UTSW |
2 |
66,752,259 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9715:Scn7a
|
UTSW |
2 |
66,689,558 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
X0060:Scn7a
|
UTSW |
2 |
66,689,682 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0066:Scn7a
|
UTSW |
2 |
66,680,192 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Scn7a
|
UTSW |
2 |
66,713,951 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Scn7a
|
UTSW |
2 |
66,752,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTTCAGTTTTGCATTCTCCCAC -3'
(R):5'- AGTGACTGTTGAGTTAGTTCCAC -3'
Sequencing Primer
(F):5'- CCCACGGCATTGATTCATTGAATAAC -3'
(R):5'- ACTGTTGAGTTAGTTCCACTTACTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation