Incidental Mutation 'R2508:Scn11a'
| ID |
251566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn11a
|
| Ensembl Gene |
ENSMUSG00000034115 |
| Gene Name |
sodium channel, voltage-gated, type XI, alpha |
| Synonyms |
NaN, NSS2, NaT, SNS2 |
| MMRRC Submission |
040414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119582829-119654522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119594595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1266
(Y1266F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070617]
[ENSMUST00000215718]
|
| AlphaFold |
Q9R053 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070617
AA Change: Y1266F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: Y1266F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
409 |
1.1e-72 |
PFAM |
|
low complexity region
|
475 |
487 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
574 |
810 |
4e-57 |
PFAM |
|
Pfam:Na_trans_assoc
|
814 |
1030 |
4.1e-29 |
PFAM |
|
Pfam:Ion_trans
|
1034 |
1300 |
5.7e-66 |
PFAM |
|
Pfam:Ion_trans
|
1346 |
1595 |
3e-58 |
PFAM |
|
low complexity region
|
1683 |
1694 |
N/A |
INTRINSIC |
|
low complexity region
|
1733 |
1744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215718
AA Change: Y1266F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,132 (GRCm39) |
T20I |
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,679,516 (GRCm39) |
T832I |
possibly damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,298 (GRCm39) |
|
probably null |
Het |
| Ankrd61 |
T |
C |
5: 143,833,894 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
G |
7: 79,488,039 (GRCm39) |
Y506S |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,382,832 (GRCm39) |
H1037Q |
probably benign |
Het |
| Auh |
G |
A |
13: 53,052,755 (GRCm39) |
R47* |
probably null |
Het |
| B4galt5 |
T |
A |
2: 167,148,558 (GRCm39) |
M187L |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,643,343 (GRCm39) |
D1000E |
probably benign |
Het |
| Cacna1f |
T |
G |
X: 7,492,687 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,279,039 (GRCm39) |
L667P |
probably damaging |
Het |
| Cenpe |
A |
T |
3: 134,946,834 (GRCm39) |
R1116S |
possibly damaging |
Het |
| Ces1b |
T |
A |
8: 93,799,969 (GRCm39) |
M136L |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,833,236 (GRCm39) |
E1130G |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clu |
T |
C |
14: 66,212,452 (GRCm39) |
V135A |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,163,432 (GRCm39) |
S388T |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,029 (GRCm39) |
V51E |
possibly damaging |
Het |
| Crym |
T |
C |
7: 119,801,050 (GRCm39) |
N33S |
probably benign |
Het |
| Ctcf |
T |
A |
8: 106,398,016 (GRCm39) |
V434E |
probably damaging |
Het |
| Daam1 |
G |
A |
12: 72,021,997 (GRCm39) |
D732N |
probably damaging |
Het |
| Dcaf13 |
A |
G |
15: 39,008,547 (GRCm39) |
Y383C |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,262,485 (GRCm39) |
T957A |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,163,619 (GRCm39) |
D817G |
probably benign |
Het |
| Eif1ad16 |
T |
C |
12: 87,985,258 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,033,818 (GRCm39) |
Y401C |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,456,592 (GRCm39) |
|
probably null |
Het |
| Fbxw21 |
C |
A |
9: 108,974,553 (GRCm39) |
K322N |
probably benign |
Het |
| Fdxr |
G |
A |
11: 115,162,806 (GRCm39) |
T100I |
probably damaging |
Het |
| Galnt11 |
C |
G |
5: 25,452,610 (GRCm39) |
P41A |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,178,473 (GRCm39) |
T322A |
probably damaging |
Het |
| Gm6871 |
T |
A |
7: 41,197,414 (GRCm39) |
T149S |
probably benign |
Het |
| Gpr26 |
C |
T |
7: 131,568,823 (GRCm39) |
T56I |
probably damaging |
Het |
| Grik4 |
C |
A |
9: 42,533,438 (GRCm39) |
G361C |
probably damaging |
Het |
| Gsr |
T |
G |
8: 34,170,316 (GRCm39) |
D200E |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,165,247 (GRCm39) |
D7E |
probably benign |
Het |
| Inpp5e |
T |
A |
2: 26,289,355 (GRCm39) |
I522F |
probably damaging |
Het |
| Insm2 |
C |
A |
12: 55,647,096 (GRCm39) |
T280K |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,617,435 (GRCm39) |
V585A |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,394,515 (GRCm39) |
V197D |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,888,849 (GRCm39) |
R17* |
probably null |
Het |
| Lag3 |
G |
T |
6: 124,888,272 (GRCm39) |
L15I |
possibly damaging |
Het |
| Lepr |
T |
A |
4: 101,648,093 (GRCm39) |
S861T |
probably damaging |
Het |
| Mcur1 |
A |
T |
13: 43,697,941 (GRCm39) |
Y320N |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,736,717 (GRCm39) |
D872V |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,134,446 (GRCm39) |
|
probably null |
Het |
| Mpl |
C |
A |
4: 118,312,954 (GRCm39) |
C193F |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,368,681 (GRCm39) |
A4142S |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,104,424 (GRCm39) |
D993E |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,947,404 (GRCm39) |
D11E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,085,533 (GRCm39) |
I1521V |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,355,485 (GRCm39) |
V1744A |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,800 (GRCm39) |
T190A |
possibly damaging |
Het |
| Or6c66 |
T |
A |
10: 129,461,784 (GRCm39) |
I49L |
probably benign |
Het |
| Or8k23 |
A |
G |
2: 86,186,708 (GRCm39) |
L6P |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,710,361 (GRCm39) |
L576P |
probably damaging |
Het |
| P2ry1 |
C |
T |
3: 60,910,900 (GRCm39) |
T13M |
probably damaging |
Het |
| Pak6 |
A |
T |
2: 118,525,050 (GRCm39) |
R559* |
probably null |
Het |
| Parvb |
A |
T |
15: 84,182,171 (GRCm39) |
M234L |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,145,907 (GRCm39) |
V666A |
possibly damaging |
Het |
| Pde3b |
T |
A |
7: 114,126,092 (GRCm39) |
Y775* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,869 (GRCm39) |
L98P |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Pkib |
T |
G |
10: 57,604,205 (GRCm39) |
D4E |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,102,428 (GRCm39) |
I202F |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Prdm1 |
T |
A |
10: 44,322,803 (GRCm39) |
T249S |
probably benign |
Het |
| Prpf39 |
T |
A |
12: 65,104,589 (GRCm39) |
F551L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
| Ralgapa1 |
G |
A |
12: 55,764,986 (GRCm39) |
P889S |
probably damaging |
Het |
| Rassf2 |
A |
T |
2: 131,840,163 (GRCm39) |
|
probably null |
Het |
| Rnf185 |
A |
G |
11: 3,368,067 (GRCm39) |
Y204H |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,610,535 (GRCm39) |
|
probably null |
Het |
| Rufy3 |
T |
C |
5: 88,797,757 (GRCm39) |
S645P |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,971,725 (GRCm39) |
H287Q |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,888,073 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
A |
T |
11: 70,536,658 (GRCm39) |
V104E |
possibly damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,117,190 (GRCm39) |
T175I |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,902 (GRCm39) |
F702Y |
probably damaging |
Het |
| Smco2 |
T |
A |
6: 146,761,465 (GRCm39) |
L184H |
probably damaging |
Het |
| Ssc4d |
A |
T |
5: 135,994,461 (GRCm39) |
C90S |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,441,298 (GRCm39) |
S1835P |
probably damaging |
Het |
| Stk35 |
A |
G |
2: 129,643,435 (GRCm39) |
T140A |
probably damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,941 (GRCm39) |
T160M |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,320,726 (GRCm39) |
L109S |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,085 (GRCm39) |
|
probably null |
Het |
| Thoc1 |
T |
A |
18: 9,977,947 (GRCm39) |
V296E |
probably damaging |
Het |
| Timp2 |
C |
T |
11: 118,201,412 (GRCm39) |
C75Y |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,639 (GRCm39) |
Y646C |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,158,940 (GRCm39) |
E655K |
possibly damaging |
Het |
| Trbv14 |
A |
C |
6: 41,112,424 (GRCm39) |
I74L |
probably benign |
Het |
| Trbv5 |
T |
A |
6: 41,039,555 (GRCm39) |
Y53* |
probably null |
Het |
| Trpm5 |
T |
C |
7: 142,642,656 (GRCm39) |
Q97R |
possibly damaging |
Het |
| Tut1 |
A |
G |
19: 8,932,931 (GRCm39) |
D88G |
probably damaging |
Het |
| Ucp2 |
A |
T |
7: 100,147,620 (GRCm39) |
I200F |
probably benign |
Het |
| Unc45a |
G |
A |
7: 79,988,623 (GRCm39) |
S131L |
probably benign |
Het |
| Uty |
A |
T |
Y: 1,158,182 (GRCm39) |
H573Q |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,855 (GRCm39) |
Y121F |
possibly damaging |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,554 (GRCm39) |
I257V |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,954,229 (GRCm39) |
L798F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,736 (GRCm39) |
M225K |
probably benign |
Het |
| Wdr24 |
A |
T |
17: 26,043,273 (GRCm39) |
I32F |
possibly damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,552,521 (GRCm39) |
T529S |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,264 (GRCm39) |
H791R |
unknown |
Het |
| Zfp24 |
A |
G |
18: 24,150,927 (GRCm39) |
L73P |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,974,121 (GRCm39) |
I130T |
probably benign |
Het |
| Zim1 |
ACAGCAG |
ACAGCAGCAG |
7: 6,680,429 (GRCm39) |
|
probably benign |
Het |
| Zim1 |
CAG |
CAGAAG |
7: 6,680,430 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Scn11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Scn11a
|
APN |
9 |
119,599,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00272:Scn11a
|
APN |
9 |
119,645,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00332:Scn11a
|
APN |
9 |
119,598,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00533:Scn11a
|
APN |
9 |
119,603,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00972:Scn11a
|
APN |
9 |
119,623,004 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01338:Scn11a
|
APN |
9 |
119,613,227 (GRCm39) |
splice site |
probably benign |
|
|
IGL01534:Scn11a
|
APN |
9 |
119,609,888 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01838:Scn11a
|
APN |
9 |
119,587,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Scn11a
|
APN |
9 |
119,648,970 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02057:Scn11a
|
APN |
9 |
119,594,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02290:Scn11a
|
APN |
9 |
119,603,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02454:Scn11a
|
APN |
9 |
119,587,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02517:Scn11a
|
APN |
9 |
119,621,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Scn11a
|
APN |
9 |
119,633,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02587:Scn11a
|
APN |
9 |
119,634,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03069:Scn11a
|
APN |
9 |
119,619,029 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03171:Scn11a
|
APN |
9 |
119,648,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
Kleinie
|
UTSW |
9 |
119,632,569 (GRCm39) |
missense |
probably benign |
0.16 |
|
H8441:Scn11a
|
UTSW |
9 |
119,636,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Scn11a
|
UTSW |
9 |
119,599,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Scn11a
|
UTSW |
9 |
119,648,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0519:Scn11a
|
UTSW |
9 |
119,619,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Scn11a
|
UTSW |
9 |
119,640,226 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0828:Scn11a
|
UTSW |
9 |
119,584,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0893:Scn11a
|
UTSW |
9 |
119,632,396 (GRCm39) |
splice site |
probably null |
|
|
R0932:Scn11a
|
UTSW |
9 |
119,636,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Scn11a
|
UTSW |
9 |
119,624,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1161:Scn11a
|
UTSW |
9 |
119,584,123 (GRCm39) |
nonsense |
probably null |
|
|
R1162:Scn11a
|
UTSW |
9 |
119,634,710 (GRCm39) |
splice site |
probably benign |
|
|
R1310:Scn11a
|
UTSW |
9 |
119,584,123 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Scn11a
|
UTSW |
9 |
119,598,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Scn11a
|
UTSW |
9 |
119,633,478 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1781:Scn11a
|
UTSW |
9 |
119,584,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Scn11a
|
UTSW |
9 |
119,609,931 (GRCm39) |
nonsense |
probably null |
|
|
R1901:Scn11a
|
UTSW |
9 |
119,608,102 (GRCm39) |
nonsense |
probably null |
|
|
R1978:Scn11a
|
UTSW |
9 |
119,609,861 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Scn11a
|
UTSW |
9 |
119,583,744 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2022:Scn11a
|
UTSW |
9 |
119,640,274 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2072:Scn11a
|
UTSW |
9 |
119,640,274 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2098:Scn11a
|
UTSW |
9 |
119,621,560 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2163:Scn11a
|
UTSW |
9 |
119,584,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2250:Scn11a
|
UTSW |
9 |
119,587,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2373:Scn11a
|
UTSW |
9 |
119,642,252 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3757:Scn11a
|
UTSW |
9 |
119,632,569 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3767:Scn11a
|
UTSW |
9 |
119,613,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Scn11a
|
UTSW |
9 |
119,613,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Scn11a
|
UTSW |
9 |
119,624,719 (GRCm39) |
splice site |
probably null |
|
|
R4092:Scn11a
|
UTSW |
9 |
119,619,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4247:Scn11a
|
UTSW |
9 |
119,636,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Scn11a
|
UTSW |
9 |
119,583,428 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4299:Scn11a
|
UTSW |
9 |
119,594,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4403:Scn11a
|
UTSW |
9 |
119,624,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4468:Scn11a
|
UTSW |
9 |
119,584,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Scn11a
|
UTSW |
9 |
119,584,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644:Scn11a
|
UTSW |
9 |
119,644,269 (GRCm39) |
splice site |
probably null |
|
|
R4739:Scn11a
|
UTSW |
9 |
119,583,627 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4809:Scn11a
|
UTSW |
9 |
119,648,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4954:Scn11a
|
UTSW |
9 |
119,587,725 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5012:Scn11a
|
UTSW |
9 |
119,609,944 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5044:Scn11a
|
UTSW |
9 |
119,648,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5222:Scn11a
|
UTSW |
9 |
119,644,268 (GRCm39) |
splice site |
probably null |
|
|
R5224:Scn11a
|
UTSW |
9 |
119,583,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Scn11a
|
UTSW |
9 |
119,598,974 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5555:Scn11a
|
UTSW |
9 |
119,584,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5711:Scn11a
|
UTSW |
9 |
119,618,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Scn11a
|
UTSW |
9 |
119,640,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Scn11a
|
UTSW |
9 |
119,613,082 (GRCm39) |
missense |
probably benign |
|
|
R6057:Scn11a
|
UTSW |
9 |
119,594,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Scn11a
|
UTSW |
9 |
119,624,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Scn11a
|
UTSW |
9 |
119,583,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6892:Scn11a
|
UTSW |
9 |
119,636,035 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6908:Scn11a
|
UTSW |
9 |
119,621,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6949:Scn11a
|
UTSW |
9 |
119,594,580 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7112:Scn11a
|
UTSW |
9 |
119,583,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Scn11a
|
UTSW |
9 |
119,588,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Scn11a
|
UTSW |
9 |
119,648,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7265:Scn11a
|
UTSW |
9 |
119,644,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Scn11a
|
UTSW |
9 |
119,636,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7391:Scn11a
|
UTSW |
9 |
119,624,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Scn11a
|
UTSW |
9 |
119,587,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7479:Scn11a
|
UTSW |
9 |
119,588,941 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7608:Scn11a
|
UTSW |
9 |
119,644,379 (GRCm39) |
splice site |
probably null |
|
|
R7768:Scn11a
|
UTSW |
9 |
119,644,338 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7785:Scn11a
|
UTSW |
9 |
119,645,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7794:Scn11a
|
UTSW |
9 |
119,594,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7818:Scn11a
|
UTSW |
9 |
119,613,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7884:Scn11a
|
UTSW |
9 |
119,633,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7988:Scn11a
|
UTSW |
9 |
119,594,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8049:Scn11a
|
UTSW |
9 |
119,584,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Scn11a
|
UTSW |
9 |
119,633,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8274:Scn11a
|
UTSW |
9 |
119,632,548 (GRCm39) |
missense |
probably benign |
|
|
R8344:Scn11a
|
UTSW |
9 |
119,611,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8346:Scn11a
|
UTSW |
9 |
119,608,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Scn11a
|
UTSW |
9 |
119,618,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8819:Scn11a
|
UTSW |
9 |
119,645,586 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8820:Scn11a
|
UTSW |
9 |
119,645,586 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8837:Scn11a
|
UTSW |
9 |
119,621,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Scn11a
|
UTSW |
9 |
119,623,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Scn11a
|
UTSW |
9 |
119,603,363 (GRCm39) |
nonsense |
probably null |
|
|
R8975:Scn11a
|
UTSW |
9 |
119,587,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Scn11a
|
UTSW |
9 |
119,588,989 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9222:Scn11a
|
UTSW |
9 |
119,611,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9355:Scn11a
|
UTSW |
9 |
119,584,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Scn11a
|
UTSW |
9 |
119,624,774 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9712:Scn11a
|
UTSW |
9 |
119,619,076 (GRCm39) |
nonsense |
probably null |
|
|
R9766:Scn11a
|
UTSW |
9 |
119,584,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Scn11a
|
UTSW |
9 |
119,584,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Scn11a
|
UTSW |
9 |
119,648,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Scn11a
|
UTSW |
9 |
119,584,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTAGCATCACATTCCCTGCAAG -3'
(R):5'- ATGTGCATCTGGAGCTTAGC -3'
Sequencing Primer
(F):5'- ACATTCCCTGCAAGCATTGG -3'
(R):5'- CATCTGGAGCTTAGCAAGGGACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation