Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Scn4a'

559063

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106318592-106353288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106330308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 842 (I842F)

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: I842F

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: I842F

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam71a	C	T	1: 191,163,351	R365H	probably damaging	Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	possibly 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
R4358:Scn4a	UTSW	11	106348857	splice site	probably null
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
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'- ATTTCCAAGTCGGACTCCTCG -3'
(R):5'- AGGTCCTGAATCTGTTCCTGG -3'

Sequencing Primer
(F):5'- AAGGTGGTCCATCTCGATGC -3'
(R):5'- GTTCCTGGCTCTCCTGTTGAG -3'

Posted On

2019-06-26