Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:Scn4a'

52196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn4a

Ensembl Gene

ENSMUSG00000001027

Gene Name

sodium channel, voltage-gated, type IV, alpha

Synonyms

mH2, SkM1, Nav1.4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

106209418-106244114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106221190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 823 (I823N)

Ref Sequence

ENSEMBL: ENSMUSP00000021056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021056]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021056
AA Change: I823N

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: I823N

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

Coding Region Coverage

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. 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,148,870 (GRCm39)	L61*	probably null	Het
Abca7	T	C	10: 79,847,131 (GRCm39)	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,049,760 (GRCm39)	I393F	probably damaging	Het
Adamts5	A	G	16: 85,696,722 (GRCm39)	L145P	probably damaging	Het
Ano6	T	C	15: 95,846,310 (GRCm39)	I537T	probably damaging	Het
AU018091	T	C	7: 3,212,153 (GRCm39)	I190V	possibly damaging	Het
Camk1	T	A	6: 113,315,333 (GRCm39)	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,581 (GRCm39)	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,072,614 (GRCm39)	D537G	probably benign	Het
Col6a3	T	C	1: 90,730,054 (GRCm39)	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,021,929 (GRCm39)	E71D	probably benign	Het
Cps1	T	C	1: 67,234,325 (GRCm39)	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,553,958 (GRCm39)	F700I	probably damaging	Het
Dmp1	G	A	5: 104,354,965 (GRCm39)	M1I	probably null	Het
Efcab6	A	T	15: 83,938,713 (GRCm39)	M1K	probably null	Het
Extl2	A	T	3: 115,821,131 (GRCm39)	H312L	possibly damaging	Het
Fat4	C	A	3: 38,944,728 (GRCm39)	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518 (GRCm38)		probably benign	Het
Hdac10	G	T	15: 89,008,071 (GRCm39)	A593E	possibly damaging	Het
Hdhd2	T	C	18: 77,052,969 (GRCm39)		probably null	Het
Kcnq2	A	G	2: 180,751,582 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,142,064 (GRCm39)	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,833,642 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,296,651 (GRCm39)	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,243,287 (GRCm39)	F40I	probably damaging	Het
Or2y3	G	T	17: 38,393,544 (GRCm39)	S108R	possibly damaging	Het
Or5p55	A	T	7: 107,566,741 (GRCm39)	I46F	probably damaging	Het
Or6d13	T	A	6: 116,517,968 (GRCm39)	C185S	probably damaging	Het
Or6x1	A	T	9: 40,099,052 (GRCm39)	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,631,664 (GRCm39)	V322L	probably benign	Het
Ppfibp1	T	A	6: 146,931,195 (GRCm39)	M917K	probably benign	Het
Prkg2	C	T	5: 99,117,795 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,704,246 (GRCm39)	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,722,110 (GRCm39)	K292*	probably null	Het
Scamp3	C	A	3: 89,084,973 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,721,668 (GRCm39)	V1316A	probably damaging	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Stard8	G	T	X: 98,116,694 (GRCm39)	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,013,038 (GRCm39)	D311E	probably benign	Het
Tex21	T	C	12: 76,245,592 (GRCm39)	H568R	probably benign	Het
Tex35	T	C	1: 156,932,667 (GRCm39)		probably benign	Het
Tgs1	T	A	4: 3,591,292 (GRCm39)	F442I	possibly damaging	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	Het
Trim56	A	T	5: 137,143,354 (GRCm39)	V54D	possibly damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfp668	A	T	7: 127,465,454 (GRCm39)	C577S	probably 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
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
R6489:Scn4a	UTSW	11	106,240,006 (GRCm39)	missense	probably benign	0.26
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

Posted On

2013-06-21