Mutagenetix > Incidental Mutations

Incidental Mutation 'R4863:Scn4a'

374684

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

042473-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106318592-106353288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106320002 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1730 (R1730G)

Ref Sequence

ENSEMBL: ENSMUSP00000021056 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021056
AA Change: R1730G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: R1730G

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

Meta Mutation Damage Score

0.4095

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512		probably null	Het
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abcc12	T	A	8: 86,538,376	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230		probably benign	Het
Dok3	G	A	13: 55,523,457	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945		probably benign	Het
Fnip1	G	A	11: 54,515,556	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989		probably benign	Het
Gtf3c2	A	G	5: 31,159,233		probably benign	Het
H2-M10.3	T	C	17: 36,366,636	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678		probably benign	Het
Lama3	C	T	18: 12,539,793	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871		probably benign	Het
Lrrc14	T	A	15: 76,713,362		probably null	Het
Map4k5	G	A	12: 69,818,438	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281		probably null	Het
Mical3	T	C	6: 121,033,787	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596		probably null	Het
Nxpe3	A	T	16: 55,849,633	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802		probably null	Het
Pou2f2	A	G	7: 25,097,108		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702		probably benign	Het
Ppp1r42	T	C	1: 10,003,386		probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139	M438V	probably benign	Het
Recql	T	G	6: 142,359,006		probably benign	Het
Rftn2	A	G	1: 55,172,039	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054	L70Q	probably damaging	Het
Serinc5	T	G	13: 92,690,980	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790	L382*	probably null	Het
Stard9	T	A	2: 120,700,860	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231	K242N	probably benign	Het
Tial1	C	T	7: 128,455,028	V1I	probably damaging	Het
Tle2	G	A	10: 81,588,891	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882		probably benign	Het
Yipf4	A	G	17: 74,494,092	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp426	T	C	9: 20,470,038	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772	Y430S	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
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
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
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'- CCAGCATCCTCTGTTGAGTC -3'
(R):5'- ATTAGACCTGCCCATGGTACCC -3'

Sequencing Primer
(F):5'- AGCATCCTCTGTTGAGTCTTTCTC -3'
(R):5'- GACAAGATCCACTGCCTGG -3'

Posted On

2016-03-17