Incidental Mutation 'R1970:Scn9a'
| ID |
219630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn9a
|
| Ensembl Gene |
ENSMUSG00000075316 |
| Gene Name |
sodium channel, voltage-gated, type IX, alpha |
| Synonyms |
PN1 |
| MMRRC Submission |
039983-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
66480080-66634962 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66515380 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 1123
(P1123Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100063]
[ENSMUST00000100064]
[ENSMUST00000112354]
[ENSMUST00000164384]
[ENSMUST00000169900]
|
| AlphaFold |
Q62205 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100063
AA Change: P1125Q
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097641
Gene: ENSMUSG00000075316
AA Change: P1125Q
| 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: P1134Q
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097642
Gene: ENSMUSG00000075316
AA Change: P1134Q
| 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 damaging
Transcript: ENSMUST00000112354
AA Change: P1123Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107973
Gene: ENSMUSG00000075316
AA Change: P1123Q
| 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: ENSMUST00000152740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164384
AA Change: P1134Q
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126528
Gene: ENSMUSG00000075316
AA Change: P1134Q
| 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 damaging
Transcript: ENSMUST00000169900
AA Change: P1123Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131711
Gene: ENSMUSG00000075316
AA Change: P1123Q
| 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 |
0.6467 |
| 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 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: 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 |
| Scn7a |
A |
G |
2: 66,684,289 (GRCm38) |
V1047A |
possibly 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 Scn9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Scn9a
|
APN |
2 |
66,563,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00570:Scn9a
|
APN |
2 |
66,484,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00809:Scn9a
|
APN |
2 |
66,483,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00977:Scn9a
|
APN |
2 |
66,484,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01120:Scn9a
|
APN |
2 |
66,526,972 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01134:Scn9a
|
APN |
2 |
66,504,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01300:Scn9a
|
APN |
2 |
66,488,053 (GRCm38) |
nonsense |
probably null |
|
|
IGL01452:Scn9a
|
APN |
2 |
66,527,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01531:Scn9a
|
APN |
2 |
66,537,378 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL01572:Scn9a
|
APN |
2 |
66,493,886 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01645:Scn9a
|
APN |
2 |
66,487,642 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL01823:Scn9a
|
APN |
2 |
66,484,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01965:Scn9a
|
APN |
2 |
66,484,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02127:Scn9a
|
APN |
2 |
66,494,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02127:Scn9a
|
APN |
2 |
66,547,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02166:Scn9a
|
APN |
2 |
66,493,103 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02183:Scn9a
|
APN |
2 |
66,484,611 (GRCm38) |
splice site |
probably benign |
|
|
IGL02640:Scn9a
|
APN |
2 |
66,536,096 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02685:Scn9a
|
APN |
2 |
66,537,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02798:Scn9a
|
APN |
2 |
66,540,559 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02832:Scn9a
|
APN |
2 |
66,568,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03008:Scn9a
|
APN |
2 |
66,562,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03270:Scn9a
|
APN |
2 |
66,484,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03408:Scn9a
|
APN |
2 |
66,526,747 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB007:Scn9a
|
UTSW |
2 |
66,504,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
BB017:Scn9a
|
UTSW |
2 |
66,504,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0039:Scn9a
|
UTSW |
2 |
66,562,444 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0173:Scn9a
|
UTSW |
2 |
66,533,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0323:Scn9a
|
UTSW |
2 |
66,568,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0344:Scn9a
|
UTSW |
2 |
66,505,010 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0421:Scn9a
|
UTSW |
2 |
66,543,277 (GRCm38) |
missense |
probably benign |
|
|
R0465:Scn9a
|
UTSW |
2 |
66,526,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0514:Scn9a
|
UTSW |
2 |
66,483,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0599:Scn9a
|
UTSW |
2 |
66,526,799 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0627:Scn9a
|
UTSW |
2 |
66,537,377 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0644:Scn9a
|
UTSW |
2 |
66,533,061 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0653:Scn9a
|
UTSW |
2 |
66,533,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0685:Scn9a
|
UTSW |
2 |
66,483,499 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0718:Scn9a
|
UTSW |
2 |
66,547,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0827:Scn9a
|
UTSW |
2 |
66,536,124 (GRCm38) |
nonsense |
probably null |
|
|
R0890:Scn9a
|
UTSW |
2 |
66,483,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1139:Scn9a
|
UTSW |
2 |
66,504,997 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1385:Scn9a
|
UTSW |
2 |
66,563,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1398:Scn9a
|
UTSW |
2 |
66,484,586 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1496:Scn9a
|
UTSW |
2 |
66,526,888 (GRCm38) |
missense |
probably benign |
|
|
R1511:Scn9a
|
UTSW |
2 |
66,526,813 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1517:Scn9a
|
UTSW |
2 |
66,505,027 (GRCm38) |
splice site |
probably benign |
|
|
R1564:Scn9a
|
UTSW |
2 |
66,484,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1634:Scn9a
|
UTSW |
2 |
66,488,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1662:Scn9a
|
UTSW |
2 |
66,483,459 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1695:Scn9a
|
UTSW |
2 |
66,504,876 (GRCm38) |
nonsense |
probably null |
|
|
R1709:Scn9a
|
UTSW |
2 |
66,483,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1741:Scn9a
|
UTSW |
2 |
66,487,594 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1755:Scn9a
|
UTSW |
2 |
66,501,716 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1914:Scn9a
|
UTSW |
2 |
66,566,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Scn9a
|
UTSW |
2 |
66,484,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2017:Scn9a
|
UTSW |
2 |
66,515,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2092:Scn9a
|
UTSW |
2 |
66,533,376 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2105:Scn9a
|
UTSW |
2 |
66,568,183 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2114:Scn9a
|
UTSW |
2 |
66,484,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Scn9a
|
UTSW |
2 |
66,484,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2128:Scn9a
|
UTSW |
2 |
66,526,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2157:Scn9a
|
UTSW |
2 |
66,536,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2162:Scn9a
|
UTSW |
2 |
66,534,229 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2350:Scn9a
|
UTSW |
2 |
66,504,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3694:Scn9a
|
UTSW |
2 |
66,562,405 (GRCm38) |
missense |
probably benign |
|
|
R3771:Scn9a
|
UTSW |
2 |
66,483,648 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3772:Scn9a
|
UTSW |
2 |
66,483,648 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3773:Scn9a
|
UTSW |
2 |
66,483,648 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3922:Scn9a
|
UTSW |
2 |
66,526,873 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3926:Scn9a
|
UTSW |
2 |
66,526,873 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4258:Scn9a
|
UTSW |
2 |
66,565,054 (GRCm38) |
intron |
probably benign |
|
|
R4385:Scn9a
|
UTSW |
2 |
66,484,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4415:Scn9a
|
UTSW |
2 |
66,526,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4570:Scn9a
|
UTSW |
2 |
66,483,558 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4682:Scn9a
|
UTSW |
2 |
66,547,018 (GRCm38) |
missense |
probably benign |
|
|
R4783:Scn9a
|
UTSW |
2 |
66,540,623 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4822:Scn9a
|
UTSW |
2 |
66,483,749 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R4829:Scn9a
|
UTSW |
2 |
66,551,713 (GRCm38) |
missense |
probably benign |
|
|
R4908:Scn9a
|
UTSW |
2 |
66,526,743 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4983:Scn9a
|
UTSW |
2 |
66,566,270 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5047:Scn9a
|
UTSW |
2 |
66,562,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5100:Scn9a
|
UTSW |
2 |
66,534,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5140:Scn9a
|
UTSW |
2 |
66,565,167 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5398:Scn9a
|
UTSW |
2 |
66,488,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5557:Scn9a
|
UTSW |
2 |
66,547,103 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5582:Scn9a
|
UTSW |
2 |
66,565,029 (GRCm38) |
intron |
probably benign |
|
|
R6108:Scn9a
|
UTSW |
2 |
66,484,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6115:Scn9a
|
UTSW |
2 |
66,563,629 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6143:Scn9a
|
UTSW |
2 |
66,487,524 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6261:Scn9a
|
UTSW |
2 |
66,483,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6335:Scn9a
|
UTSW |
2 |
66,568,264 (GRCm38) |
start codon destroyed |
possibly damaging |
0.91 |
|
R6429:Scn9a
|
UTSW |
2 |
66,526,963 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6632:Scn9a
|
UTSW |
2 |
66,483,502 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6681:Scn9a
|
UTSW |
2 |
66,563,342 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6830:Scn9a
|
UTSW |
2 |
66,568,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7102:Scn9a
|
UTSW |
2 |
66,549,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7186:Scn9a
|
UTSW |
2 |
66,534,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7243:Scn9a
|
UTSW |
2 |
66,540,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7311:Scn9a
|
UTSW |
2 |
66,484,404 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7328:Scn9a
|
UTSW |
2 |
66,484,587 (GRCm38) |
missense |
probably benign |
|
|
R7386:Scn9a
|
UTSW |
2 |
66,540,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Scn9a
|
UTSW |
2 |
66,547,187 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7483:Scn9a
|
UTSW |
2 |
66,533,348 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7485:Scn9a
|
UTSW |
2 |
66,534,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7526:Scn9a
|
UTSW |
2 |
66,483,646 (GRCm38) |
missense |
probably benign |
|
|
R7617:Scn9a
|
UTSW |
2 |
66,540,549 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R7642:Scn9a
|
UTSW |
2 |
66,536,236 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7653:Scn9a
|
UTSW |
2 |
66,527,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7747:Scn9a
|
UTSW |
2 |
66,484,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Scn9a
|
UTSW |
2 |
66,483,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7864:Scn9a
|
UTSW |
2 |
66,484,560 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7890:Scn9a
|
UTSW |
2 |
66,543,112 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7930:Scn9a
|
UTSW |
2 |
66,504,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7975:Scn9a
|
UTSW |
2 |
66,484,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8057:Scn9a
|
UTSW |
2 |
66,515,430 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8145:Scn9a
|
UTSW |
2 |
66,487,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8163:Scn9a
|
UTSW |
2 |
66,484,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8165:Scn9a
|
UTSW |
2 |
66,540,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8342:Scn9a
|
UTSW |
2 |
66,536,282 (GRCm38) |
missense |
probably benign |
|
|
R8345:Scn9a
|
UTSW |
2 |
66,494,622 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8464:Scn9a
|
UTSW |
2 |
66,566,281 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8467:Scn9a
|
UTSW |
2 |
66,501,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8698:Scn9a
|
UTSW |
2 |
66,536,284 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8810:Scn9a
|
UTSW |
2 |
66,501,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8822:Scn9a
|
UTSW |
2 |
66,540,635 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8829:Scn9a
|
UTSW |
2 |
66,483,617 (GRCm38) |
missense |
probably benign |
|
|
R9009:Scn9a
|
UTSW |
2 |
66,508,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9038:Scn9a
|
UTSW |
2 |
66,494,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9126:Scn9a
|
UTSW |
2 |
66,484,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9205:Scn9a
|
UTSW |
2 |
66,533,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9300:Scn9a
|
UTSW |
2 |
66,504,892 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9373:Scn9a
|
UTSW |
2 |
66,483,917 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9404:Scn9a
|
UTSW |
2 |
66,526,696 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9443:Scn9a
|
UTSW |
2 |
66,565,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9590:Scn9a
|
UTSW |
2 |
66,483,984 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9612:Scn9a
|
UTSW |
2 |
66,533,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9617:Scn9a
|
UTSW |
2 |
66,562,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9717:Scn9a
|
UTSW |
2 |
66,526,658 (GRCm38) |
missense |
probably benign |
|
|
X0003:Scn9a
|
UTSW |
2 |
66,508,647 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0062:Scn9a
|
UTSW |
2 |
66,568,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Scn9a
|
UTSW |
2 |
66,540,592 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Scn9a
|
UTSW |
2 |
66,494,685 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAATAGATGTCAGACATATGGGG -3'
(R):5'- CTATGTTTTGACAGCCATCGTACTG -3'
Sequencing Primer
(F):5'- GGCACTTAAATAGAGCTCCGTGC -3'
(R):5'- TGACAGCCATCGTACTGTTAAAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation