Incidental Mutation 'R6489:Scn4a'
| ID |
522668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn4a
|
| Ensembl Gene |
ENSMUSG00000001027 |
| Gene Name |
sodium channel, voltage-gated, type IV, alpha |
| Synonyms |
mH2, SkM1, Nav1.4 |
| MMRRC Submission |
044621-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6489 (G1)
|
| Quality Score |
162.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106209418-106244114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 106240006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 70
(D70E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021056]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021056
AA Change: D70E
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
130 |
452 |
1.1e-80 |
PFAM |
|
low complexity region
|
473 |
491 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
571 |
805 |
4.2e-56 |
PFAM |
|
Pfam:Na_trans_assoc
|
810 |
1020 |
3.2e-59 |
PFAM |
|
Pfam:Ion_trans
|
1024 |
1299 |
1.4e-64 |
PFAM |
|
Pfam:Ion_trans
|
1346 |
1603 |
6.1e-55 |
PFAM |
|
Pfam:PKD_channel
|
1441 |
1598 |
1.4e-6 |
PFAM |
|
IQ
|
1720 |
1742 |
2.5e-2 |
SMART |
|
low complexity region
|
1815 |
1827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174877
|
| Meta Mutation Damage Score |
0.1014 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.3%
- 20x: 90.6%
|
| Validation Efficiency |
100% (61/61) |
| 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. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele develop myotonia, increased myofiber damage, K+-sensitive paralysis and susceptibility to delayed weakness during recovery from fatigue. Homozygotes show perinatal lethality, low survival rate, unusual hind-limb clasping and reduced body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,901,145 (GRCm39) |
T650A |
probably benign |
Het |
| Alkbh7 |
T |
A |
17: 57,305,979 (GRCm39) |
S127T |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| App |
G |
T |
16: 84,853,408 (GRCm39) |
D223E |
unknown |
Het |
| Arhgef2 |
C |
A |
3: 88,550,321 (GRCm39) |
S675R |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,786,480 (GRCm39) |
D258G |
probably damaging |
Het |
| Calhm5 |
A |
T |
10: 33,968,502 (GRCm39) |
W184R |
probably damaging |
Het |
| Cbr1b |
A |
T |
16: 93,427,286 (GRCm39) |
|
probably null |
Het |
| Ckap2l |
T |
C |
2: 129,111,034 (GRCm39) |
D721G |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,933 (GRCm39) |
T481A |
probably benign |
Het |
| Colec10 |
C |
A |
15: 54,325,609 (GRCm39) |
|
probably null |
Het |
| Cplx3 |
A |
T |
9: 57,521,009 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,332,389 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,592,270 (GRCm39) |
M935T |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,604,420 (GRCm39) |
N962K |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,213,297 (GRCm39) |
V173A |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,395,131 (GRCm39) |
Y583C |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,867,551 (GRCm38) |
V103M |
probably damaging |
Het |
| Fzd1 |
T |
A |
5: 4,807,336 (GRCm39) |
Q82L |
probably benign |
Het |
| Gabrr1 |
A |
G |
4: 33,162,855 (GRCm39) |
I474V |
probably benign |
Het |
| Galnt11 |
G |
T |
5: 25,469,964 (GRCm39) |
W521L |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,738,127 (GRCm39) |
V420A |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,888 (GRCm39) |
L87* |
probably null |
Het |
| Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
| Ihh |
T |
A |
1: 74,985,670 (GRCm39) |
T272S |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,179 (GRCm39) |
M524V |
probably benign |
Het |
| Mdp1 |
C |
A |
14: 55,897,848 (GRCm39) |
|
probably benign |
Het |
| Med12l |
A |
G |
3: 59,164,828 (GRCm39) |
K1436R |
probably damaging |
Het |
| Megf10 |
C |
T |
18: 57,424,879 (GRCm39) |
S1006F |
probably benign |
Het |
| Miga1 |
A |
T |
3: 151,984,645 (GRCm39) |
I426N |
probably damaging |
Het |
| Mtmr6 |
C |
T |
14: 60,537,963 (GRCm39) |
T654I |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,370,101 (GRCm39) |
S2673G |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,028,716 (GRCm39) |
H193Q |
probably benign |
Het |
| Or1e25 |
T |
A |
11: 73,494,265 (GRCm39) |
N286K |
probably damaging |
Het |
| Or4f7 |
A |
C |
2: 111,644,405 (GRCm39) |
L222W |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,875 (GRCm39) |
N191D |
probably benign |
Het |
| Pdcd11 |
C |
T |
19: 47,098,191 (GRCm39) |
R826C |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,662,907 (GRCm39) |
R521* |
probably null |
Het |
| Phf2 |
T |
C |
13: 48,979,658 (GRCm39) |
S158G |
unknown |
Het |
| Pla2g15 |
A |
G |
8: 106,889,826 (GRCm39) |
E366G |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,359,344 (GRCm39) |
H494Q |
probably damaging |
Het |
| Prpsap2 |
A |
T |
11: 61,639,890 (GRCm39) |
M87K |
probably damaging |
Het |
| Rbm19 |
T |
G |
5: 120,258,195 (GRCm39) |
S137A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,848,893 (GRCm39) |
I363L |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,896 (GRCm39) |
T122A |
probably benign |
Het |
| Slc12a3 |
T |
A |
8: 95,061,632 (GRCm39) |
V293D |
possibly damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,140,615 (GRCm39) |
Y139C |
probably damaging |
Het |
| Slco2b1 |
A |
T |
7: 99,339,762 (GRCm39) |
C9* |
probably null |
Het |
| Slitrk1 |
A |
T |
14: 109,148,735 (GRCm39) |
S659T |
possibly damaging |
Het |
| Son |
T |
G |
16: 91,452,044 (GRCm39) |
S264A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,066 (GRCm39) |
G1326V |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,922,918 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,645,062 (GRCm39) |
V11185A |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,203,574 (GRCm39) |
|
probably null |
Het |
| Utp15 |
G |
T |
13: 98,387,117 (GRCm39) |
F434L |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vsnl1 |
T |
G |
12: 11,382,219 (GRCm39) |
|
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zbtb34 |
A |
C |
2: 33,301,558 (GRCm39) |
S328A |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,346,637 (GRCm39) |
I1672T |
possibly damaging |
Het |
|
| Other mutations in Scn4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Scn4a
|
APN |
11 |
106,210,745 (GRCm39) |
missense |
probably benign |
|
|
IGL00846:Scn4a
|
APN |
11 |
106,218,944 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01063:Scn4a
|
APN |
11 |
106,221,190 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01450:Scn4a
|
APN |
11 |
106,215,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01922:Scn4a
|
APN |
11 |
106,229,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02589:Scn4a
|
APN |
11 |
106,218,958 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03171:Scn4a
|
APN |
11 |
106,236,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03338:Scn4a
|
APN |
11 |
106,211,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Scn4a
|
UTSW |
11 |
106,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Scn4a
|
UTSW |
11 |
106,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Scn4a
|
UTSW |
11 |
106,239,231 (GRCm39) |
splice site |
probably benign |
|
|
R0013:Scn4a
|
UTSW |
11 |
106,239,231 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Scn4a
|
UTSW |
11 |
106,215,386 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0025:Scn4a
|
UTSW |
11 |
106,215,386 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0050:Scn4a
|
UTSW |
11 |
106,211,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Scn4a
|
UTSW |
11 |
106,236,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0193:Scn4a
|
UTSW |
11 |
106,211,364 (GRCm39) |
nonsense |
probably null |
|
|
R0410:Scn4a
|
UTSW |
11 |
106,214,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Scn4a
|
UTSW |
11 |
106,236,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Scn4a
|
UTSW |
11 |
106,221,226 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1112:Scn4a
|
UTSW |
11 |
106,211,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1279:Scn4a
|
UTSW |
11 |
106,226,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Scn4a
|
UTSW |
11 |
106,236,367 (GRCm39) |
missense |
probably benign |
|
|
R1712:Scn4a
|
UTSW |
11 |
106,236,373 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1712:Scn4a
|
UTSW |
11 |
106,230,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Scn4a
|
UTSW |
11 |
106,211,646 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1900:Scn4a
|
UTSW |
11 |
106,218,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Scn4a
|
UTSW |
11 |
106,226,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2209:Scn4a
|
UTSW |
11 |
106,230,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Scn4a
|
UTSW |
11 |
106,221,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3788:Scn4a
|
UTSW |
11 |
106,235,100 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3853:Scn4a
|
UTSW |
11 |
106,210,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3861:Scn4a
|
UTSW |
11 |
106,216,950 (GRCm39) |
splice site |
probably benign |
|
|
R3912:Scn4a
|
UTSW |
11 |
106,211,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Scn4a
|
UTSW |
11 |
106,238,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4036:Scn4a
|
UTSW |
11 |
106,212,883 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4358:Scn4a
|
UTSW |
11 |
106,239,683 (GRCm39) |
splice site |
probably null |
|
|
R4556:Scn4a
|
UTSW |
11 |
106,211,272 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4677:Scn4a
|
UTSW |
11 |
106,214,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Scn4a
|
UTSW |
11 |
106,210,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Scn4a
|
UTSW |
11 |
106,210,914 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5081:Scn4a
|
UTSW |
11 |
106,239,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5298:Scn4a
|
UTSW |
11 |
106,230,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Scn4a
|
UTSW |
11 |
106,211,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Scn4a
|
UTSW |
11 |
106,220,830 (GRCm39) |
missense |
probably benign |
|
|
R6381:Scn4a
|
UTSW |
11 |
106,211,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Scn4a
|
UTSW |
11 |
106,236,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6549:Scn4a
|
UTSW |
11 |
106,234,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6606:Scn4a
|
UTSW |
11 |
106,218,899 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7037:Scn4a
|
UTSW |
11 |
106,211,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Scn4a
|
UTSW |
11 |
106,212,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7182:Scn4a
|
UTSW |
11 |
106,221,134 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7194:Scn4a
|
UTSW |
11 |
106,215,062 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7531:Scn4a
|
UTSW |
11 |
106,239,523 (GRCm39) |
splice site |
probably null |
|
|
R7552:Scn4a
|
UTSW |
11 |
106,239,995 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7570:Scn4a
|
UTSW |
11 |
106,211,299 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7635:Scn4a
|
UTSW |
11 |
106,215,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Scn4a
|
UTSW |
11 |
106,233,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Scn4a
|
UTSW |
11 |
106,212,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7927:Scn4a
|
UTSW |
11 |
106,233,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:Scn4a
|
UTSW |
11 |
106,221,157 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8131:Scn4a
|
UTSW |
11 |
106,232,367 (GRCm39) |
missense |
probably benign |
|
|
R9093:Scn4a
|
UTSW |
11 |
106,210,638 (GRCm39) |
missense |
probably benign |
|
|
R9099:Scn4a
|
UTSW |
11 |
106,211,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Scn4a
|
UTSW |
11 |
106,214,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Scn4a
|
UTSW |
11 |
106,217,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Scn4a
|
UTSW |
11 |
106,215,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9627:Scn4a
|
UTSW |
11 |
106,212,839 (GRCm39) |
missense |
probably benign |
|
|
R9780:Scn4a
|
UTSW |
11 |
106,226,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Scn4a
|
UTSW |
11 |
106,220,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Scn4a
|
UTSW |
11 |
106,213,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Scn4a
|
UTSW |
11 |
106,232,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Scn4a
|
UTSW |
11 |
106,232,355 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1176:Scn4a
|
UTSW |
11 |
106,212,734 (GRCm39) |
missense |
probably null |
0.29 |
|
Z1177:Scn4a
|
UTSW |
11 |
106,232,368 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Scn4a
|
UTSW |
11 |
106,221,034 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCTTTGTTGAGCACAATGAAGG -3'
(R):5'- AAGGATGGCCAGCTCATCTC -3'
Sequencing Primer
(F):5'- TTGTTGAGCACAATGAAGGTCTGAG -3'
(R):5'- GGCCAGCTCATCTCTGCCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation