Mutagenetix > Incidental Mutation

Incidental Mutation 'R4358:Scn4a'

324668

Institutional Source

Beutler Lab

Gene Symbol

Scn4a

Ensembl Gene

ENSMUSG00000001027

Gene Name

sodium channel, voltage-gated, type IV, alpha

Synonyms

SkM1, mH2, Nav1.4

MMRRC Submission

041110-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106318592-106353288 bp(-) (GRCm38)

Type of Mutation

splice site (43 bp from exon)

DNA Base Change (assembly)

G to A at 106348857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021056 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000021056

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (48/49)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,729,373	V7M	probably damaging	Het
Birc6	T	A	17: 74,619,668		probably null	Het
Chil3	G	A	3: 106,160,499	Q117*	probably null	Het
Daglb	T	C	5: 143,473,134		probably benign	Het
Dnah11	G	A	12: 118,125,843	R1163*	probably null	Het
Ftsj3	G	A	11: 106,253,676	A134V	probably benign	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Gfod2	T	C	8: 105,717,545	N122S	possibly damaging	Het
Golga4	A	G	9: 118,551,878	E507G	probably benign	Het
Ids	C	A	X: 70,346,344	G506C	probably damaging	Het
Ifna15	G	T	4: 88,557,842	T135N	probably benign	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827		probably null	Het
L3hypdh	A	T	12: 72,077,424	D247E	probably damaging	Het
Lama2	A	T	10: 26,984,493	N2999K	probably damaging	Het
Lpcat2	C	A	8: 92,873,106	P234Q	probably benign	Het
Lrp10	C	T	14: 54,468,366	R338C	probably damaging	Het
Mcm9	A	C	10: 53,537,653	C444G	probably benign	Het
Mecom	G	A	3: 29,979,785	Q246*	probably null	Het
Mib1	A	G	18: 10,751,844	N242S	probably benign	Het
Olfr13	T	A	6: 43,174,226	M80K	probably damaging	Het
Olfr943	G	A	9: 39,184,568	C127Y	probably damaging	Het
P3h4	A	G	11: 100,413,626	F263S	probably damaging	Het
Pcsk1	T	C	13: 75,112,719	S354P	possibly damaging	Het
Pms2	T	A	5: 143,925,926	F617Y	probably damaging	Het
Prps2	T	A	X: 167,363,549	K176*	probably null	Het
Psmd13	G	T	7: 140,889,505		probably benign	Het
Pygl	G	A	12: 70,195,690	S573L	probably damaging	Het
Rapgef3	A	G	15: 97,748,648	V794A	probably benign	Het
Rasgrf2	C	A	13: 91,890,677	D1017Y	probably damaging	Het
Rb1cc1	A	G	1: 6,245,637	D555G	probably damaging	Het
Rptor	G	T	11: 119,671,345	E111D	probably damaging	Het
Sall4	T	C	2: 168,755,480	E480G	probably benign	Het
Scn8a	G	A	15: 100,940,133	A94T	probably benign	Het
Slc26a6	T	A	9: 108,861,783	C636S	probably benign	Het
Slc38a11	T	C	2: 65,358,116	K103R	probably benign	Het
Sned1	T	C	1: 93,274,659	L675P	probably benign	Het
Spsb1	T	C	4: 149,906,775	H112R	probably damaging	Het
Tmem132d	G	A	5: 127,984,341	T399M	possibly damaging	Het
Zfp939	A	G	7: 39,473,720		noncoding transcript	Het
Zfp951	T	C	5: 104,814,675	K342E	probably damaging	Het

Other mutations in Scn4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Scn4a	APN	11	106319919	missense	probably benign
IGL00846:Scn4a	APN	11	106328118	missense	probably benign	0.03
IGL01063:Scn4a	APN	11	106330364	missense	possibly damaging	0.91
IGL01450:Scn4a	APN	11	106324661	missense	probably damaging	0.99
IGL01922:Scn4a	APN	11	106339152	critical splice donor site	probably null
IGL02589:Scn4a	APN	11	106328132	missense	probably benign	0.08
IGL03171:Scn4a	APN	11	106345592	missense	probably benign	0.01
IGL03338:Scn4a	APN	11	106320845	missense	probably damaging	1.00
BB004:Scn4a	UTSW	11	106342383	missense	probably damaging	1.00
BB014:Scn4a	UTSW	11	106342383	missense	probably damaging	1.00
R0013:Scn4a	UTSW	11	106348405	splice site	probably benign
R0013:Scn4a	UTSW	11	106348405	splice site	probably benign
R0025:Scn4a	UTSW	11	106324560	missense	probably benign	0.39
R0025:Scn4a	UTSW	11	106324560	missense	probably benign	0.39
R0050:Scn4a	UTSW	11	106320856	missense	probably damaging	1.00
R0113:Scn4a	UTSW	11	106345436	missense	probably benign	0.00
R0193:Scn4a	UTSW	11	106320538	nonsense	probably null
R0410:Scn4a	UTSW	11	106323949	missense	probably damaging	1.00
R0512:Scn4a	UTSW	11	106345677	missense	probably damaging	1.00
R0532:Scn4a	UTSW	11	106330400	missense	probably benign	0.45
R1112:Scn4a	UTSW	11	106320466	missense	probably damaging	1.00
R1279:Scn4a	UTSW	11	106335682	missense	probably damaging	1.00
R1564:Scn4a	UTSW	11	106345541	missense	probably benign
R1712:Scn4a	UTSW	11	106339354	missense	probably damaging	1.00
R1712:Scn4a	UTSW	11	106345547	missense	probably benign	0.20
R1721:Scn4a	UTSW	11	106320820	missense	probably benign	0.31
R1900:Scn4a	UTSW	11	106327533	missense	probably damaging	1.00
R2057:Scn4a	UTSW	11	106335724	missense	probably damaging	0.97
R2209:Scn4a	UTSW	11	106339225	missense	probably damaging	1.00
R3416:Scn4a	UTSW	11	106330413	missense	probably benign	0.00
R3788:Scn4a	UTSW	11	106344274	missense	probably damaging	0.96
R3853:Scn4a	UTSW	11	106320106	missense	possibly damaging	0.94
R3861:Scn4a	UTSW	11	106326124	splice site	probably benign
R3912:Scn4a	UTSW	11	106320716	missense	probably damaging	1.00
R3983:Scn4a	UTSW	11	106347818	missense	probably damaging	1.00
R4036:Scn4a	UTSW	11	106322057	missense	possibly damaging	0.75
R4556:Scn4a	UTSW	11	106320446	missense	probably benign	0.32
R4677:Scn4a	UTSW	11	106323962	missense	probably damaging	1.00
R4863:Scn4a	UTSW	11	106320002	missense	probably damaging	1.00
R4924:Scn4a	UTSW	11	106320088	missense	possibly damaging	0.83
R5081:Scn4a	UTSW	11	106348727	missense	probably damaging	0.99
R5298:Scn4a	UTSW	11	106339386	missense	probably damaging	1.00
R5407:Scn4a	UTSW	11	106320889	missense	probably damaging	1.00
R5634:Scn4a	UTSW	11	106330004	missense	probably benign
R6381:Scn4a	UTSW	11	106320311	missense	probably damaging	1.00
R6468:Scn4a	UTSW	11	106345676	missense	probably damaging	1.00
R6489:Scn4a	UTSW	11	106349180	missense	probably benign	0.26
R6549:Scn4a	UTSW	11	106343965	missense	probably damaging	1.00
R6606:Scn4a	UTSW	11	106328073	missense	probably benign	0.39
R7037:Scn4a	UTSW	11	106320900	missense	probably damaging	0.98
R7064:Scn4a	UTSW	11	106322157	missense	possibly damaging	0.93
R7182:Scn4a	UTSW	11	106330308	missense	probably benign	0.21
R7194:Scn4a	UTSW	11	106324236	missense	probably benign	0.32
R7531:Scn4a	UTSW	11	106348697	splice site	probably null
R7552:Scn4a	UTSW	11	106349169	missense	probably benign	0.22
R7570:Scn4a	UTSW	11	106320473	missense	possibly damaging	0.54
R7635:Scn4a	UTSW	11	106324632	missense	probably damaging	1.00
R7823:Scn4a	UTSW	11	106342508	missense	probably damaging	1.00
R7832:Scn4a	UTSW	11	106322015	missense	probably benign	0.01
R7927:Scn4a	UTSW	11	106342383	missense	probably damaging	1.00
R8122:Scn4a	UTSW	11	106330331	missense	probably benign	0.02
R8131:Scn4a	UTSW	11	106341541	missense	probably benign
R9093:Scn4a	UTSW	11	106319812	missense	probably benign
R9099:Scn4a	UTSW	11	106320174	missense	probably damaging	1.00
R9137:Scn4a	UTSW	11	106323910	missense	probably damaging	1.00
R9163:Scn4a	UTSW	11	106326250	missense	probably damaging	1.00
R9255:Scn4a	UTSW	11	106324228	missense	probably damaging	0.99
R9627:Scn4a	UTSW	11	106322013	missense	probably benign
R9780:Scn4a	UTSW	11	106335409	missense	probably damaging	1.00
X0012:Scn4a	UTSW	11	106330061	missense	probably damaging	1.00
X0065:Scn4a	UTSW	11	106322178	missense	probably damaging	0.98
Z1176:Scn4a	UTSW	11	106321908	missense	probably null	0.29
Z1176:Scn4a	UTSW	11	106341529	missense	probably benign	0.26
Z1176:Scn4a	UTSW	11	106341530	missense	probably damaging	0.97
Z1177:Scn4a	UTSW	11	106330208	missense	not run
Z1177:Scn4a	UTSW	11	106341542	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAGCATCACTCTGAACACTG -3'
(R):5'- GCCTCAGACCTTCATTGTGC -3'

Sequencing Primer
(F):5'- TGAACACTGAGTGCAGACCTG -3'
(R):5'- TTGTGCTCAACAAAGGAAAGGCC -3'

Posted On

2015-06-24