Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Scn4a'

32661

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

038308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0013 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

106318592-106353288 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 106348405 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 benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	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
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
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'- CCCAAAGGTCCTGTTTTAGCCCAAG -3'
(R):5'- GGAGACATTGTCCCTGTGACACAAC -3'

Sequencing Primer
(F):5'- ACACTGGTCTCTGAGAATGC -3'
(R):5'- TGTGACACAACACCTTAAGCC -3'

Posted On

2013-05-09