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 |
66310424-66465306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66345724 bp (GRCm39)
|
| 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: 24,526,549 (GRCm39) |
H578Q |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,253,910 (GRCm39) |
I958T |
probably benign |
Het |
| Abcg5 |
AATCATTTG |
AG |
17: 84,981,030 (GRCm39) |
|
probably null |
Het |
| Acap2 |
A |
G |
16: 30,952,345 (GRCm39) |
|
probably null |
Het |
| Adgrb1 |
T |
C |
15: 74,411,726 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,985,258 (GRCm39) |
V897E |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,254,328 (GRCm39) |
L343Q |
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,589,376 (GRCm39) |
I1275M |
probably damaging |
Het |
| Arnt |
C |
T |
3: 95,355,704 (GRCm39) |
S16L |
possibly damaging |
Het |
| Bglap3 |
C |
T |
3: 88,284,300 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,928,609 (GRCm39) |
|
probably benign |
Het |
| C1qtnf4 |
T |
C |
2: 90,720,003 (GRCm39) |
M92T |
probably damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,805,486 (GRCm39) |
R263C |
unknown |
Het |
| Ccdc83 |
T |
A |
7: 89,893,362 (GRCm39) |
S132C |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 107,120,940 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,632,817 (GRCm39) |
N178I |
probably benign |
Het |
| Col27a1 |
C |
T |
4: 63,191,354 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
A |
T |
2: 27,876,766 (GRCm39) |
M822L |
unknown |
Het |
| Coro7 |
T |
C |
16: 4,451,620 (GRCm39) |
I451V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,536,927 (GRCm39) |
T92A |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,765,292 (GRCm39) |
V460A |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,736,547 (GRCm39) |
V608I |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,425,240 (GRCm39) |
H676L |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,198,989 (GRCm39) |
E48G |
probably benign |
Het |
| Dpf3 |
T |
A |
12: 83,371,809 (GRCm39) |
|
probably null |
Het |
| Dydc2 |
A |
G |
14: 40,783,860 (GRCm39) |
C88R |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,662,772 (GRCm39) |
Y163H |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,746,378 (GRCm39) |
D296G |
probably damaging |
Het |
| Fam83h |
G |
T |
15: 75,878,419 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
T |
A |
11: 116,042,317 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,362,158 (GRCm39) |
L323Q |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,995,588 (GRCm39) |
V437D |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,258 (GRCm39) |
S420P |
probably benign |
Het |
| Foxp4 |
C |
T |
17: 48,186,796 (GRCm39) |
R378Q |
unknown |
Het |
| Garem2 |
G |
T |
5: 30,322,172 (GRCm39) |
G844* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,235,177 (GRCm39) |
L269S |
probably damaging |
Het |
| Gm9915 |
T |
C |
1: 42,269,881 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb4 |
A |
T |
3: 32,652,290 (GRCm39) |
D27E |
probably damaging |
Het |
| Gnb5 |
A |
G |
9: 75,251,932 (GRCm39) |
|
probably null |
Het |
| Gpr161 |
T |
G |
1: 165,133,927 (GRCm39) |
V63G |
probably damaging |
Het |
| Gsk3a |
T |
A |
7: 24,929,146 (GRCm39) |
|
probably benign |
Het |
| Hapln2 |
T |
C |
3: 87,931,427 (GRCm39) |
|
probably null |
Het |
| Incenp |
G |
T |
19: 9,862,851 (GRCm39) |
T401N |
unknown |
Het |
| Kalrn |
A |
G |
16: 33,797,894 (GRCm39) |
|
probably null |
Het |
| Kcnq3 |
A |
G |
15: 65,900,472 (GRCm39) |
|
probably null |
Het |
| Kif21b |
T |
C |
1: 136,098,894 (GRCm39) |
V1394A |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,664,030 (GRCm39) |
C460R |
probably damaging |
Het |
| L3mbtl1 |
G |
A |
2: 162,801,492 (GRCm39) |
A291T |
probably damaging |
Het |
| Lcp1 |
T |
C |
14: 75,437,946 (GRCm39) |
S119P |
probably damaging |
Het |
| Ldhc |
A |
G |
7: 46,519,175 (GRCm39) |
I133V |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,791,972 (GRCm39) |
|
probably benign |
Het |
| Lpl |
A |
T |
8: 69,349,454 (GRCm39) |
K327* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 40,765,081 (GRCm39) |
D2801G |
probably damaging |
Het |
| Mppe1 |
C |
A |
18: 67,362,843 (GRCm39) |
A131S |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,386,328 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,252,576 (GRCm39) |
I377T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
| Myof |
A |
T |
19: 37,934,082 (GRCm39) |
D955E |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,115,982 (GRCm39) |
D858G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,153,917 (GRCm39) |
V2398D |
possibly damaging |
Het |
| Nefl |
C |
G |
14: 68,324,121 (GRCm39) |
T453R |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,444,787 (GRCm39) |
N371D |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,119,810 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,341,905 (GRCm39) |
Y580C |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,836,492 (GRCm39) |
L228R |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,658,529 (GRCm39) |
A1605V |
probably damaging |
Het |
| Ofd1 |
T |
C |
X: 165,210,210 (GRCm39) |
Y205C |
probably benign |
Het |
| Or2ag12 |
T |
A |
7: 106,276,877 (GRCm39) |
N272I |
probably damaging |
Het |
| Or2d3b |
G |
A |
7: 106,513,453 (GRCm39) |
G16D |
probably damaging |
Het |
| Or4k77 |
C |
T |
2: 111,199,421 (GRCm39) |
S148L |
probably benign |
Het |
| Or8g55 |
T |
A |
9: 39,785,234 (GRCm39) |
I221N |
probably damaging |
Het |
| Or8k3 |
T |
A |
2: 86,058,596 (GRCm39) |
T240S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,763,487 (GRCm39) |
T3987A |
unknown |
Het |
| Pdgfrb |
G |
A |
18: 61,199,566 (GRCm39) |
|
probably benign |
Het |
| Pdxk |
G |
A |
10: 78,276,988 (GRCm39) |
T270I |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,391,364 (GRCm39) |
E10G |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,846,112 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,451,747 (GRCm39) |
I2183F |
probably damaging |
Het |
| Plppr2 |
T |
C |
9: 21,852,422 (GRCm39) |
V102A |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,939,478 (GRCm39) |
T1449A |
probably damaging |
Het |
| Pnkd |
T |
A |
1: 74,325,069 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,167,642 (GRCm39) |
I638V |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,596,314 (GRCm39) |
|
probably null |
Het |
| Ranbp10 |
A |
G |
8: 106,513,340 (GRCm39) |
F191L |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,623,723 (GRCm39) |
L824P |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,861,599 (GRCm39) |
L418P |
probably damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,874,305 (GRCm39) |
N429Y |
probably damaging |
Het |
| Rpe65 |
C |
A |
3: 159,321,307 (GRCm39) |
T373K |
probably benign |
Het |
| Rpl35rt |
T |
G |
1: 156,194,017 (GRCm39) |
*124G |
probably null |
Het |
| Rrn3 |
T |
C |
16: 13,606,938 (GRCm39) |
S151P |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,514,633 (GRCm39) |
V1047A |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,589,430 (GRCm39) |
D706G |
probably damaging |
Het |
| Serpina5 |
A |
T |
12: 104,070,116 (GRCm39) |
T338S |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,844,894 (GRCm39) |
|
probably null |
Het |
| Shisa4 |
C |
T |
1: 135,300,012 (GRCm39) |
G157D |
probably damaging |
Het |
| Slc1a7 |
G |
T |
4: 107,825,782 (GRCm39) |
D14Y |
probably benign |
Het |
| Slc25a11 |
A |
C |
11: 70,536,999 (GRCm39) |
L51V |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,521,668 (GRCm39) |
|
probably null |
Het |
| Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,067,933 (GRCm39) |
V2120A |
possibly damaging |
Het |
| Srpra |
T |
C |
9: 35,124,834 (GRCm39) |
|
probably null |
Het |
| Syt6 |
A |
G |
3: 103,494,736 (GRCm39) |
I234V |
probably benign |
Het |
| Thada |
G |
T |
17: 84,617,470 (GRCm39) |
P1349T |
probably damaging |
Het |
| Tmem161a |
C |
T |
8: 70,629,559 (GRCm39) |
R58W |
probably damaging |
Het |
| Top3b |
A |
G |
16: 16,701,383 (GRCm39) |
I232V |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,020,826 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Ttc28 |
A |
C |
5: 111,383,501 (GRCm39) |
Y1334S |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,380,077 (GRCm39) |
N28K |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,190,862 (GRCm39) |
D1366G |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,278,942 (GRCm39) |
S415P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,837,157 (GRCm39) |
S2796T |
probably damaging |
Het |
| Vipr2 |
T |
C |
12: 116,099,826 (GRCm39) |
V231A |
probably benign |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,373 (GRCm39) |
N260S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,038 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,801,013 (GRCm39) |
Y308N |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,470 (GRCm39) |
M781K |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,379,394 (GRCm39) |
I500F |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,702,559 (GRCm39) |
V31A |
probably damaging |
Het |
| Zfp689 |
G |
T |
7: 127,043,959 (GRCm39) |
Q224K |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,475 (GRCm39) |
L113H |
probably benign |
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 |
|
R0627:Scn9a
|
UTSW |
2 |
66,367,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GTCAATAGATGTCAGACATATGGGG -3'
(R):5'- CTATGTTTTGACAGCCATCGTACTG -3'
Sequencing Primer
(F):5'- GGCACTTAAATAGAGCTCCGTGC -3'
(R):5'- TGACAGCCATCGTACTGTTAAAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation