Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Scn4a'

585743

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

045631-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106318592-106353288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106320473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1573 (C1573S)

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: C1573S

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: C1573S

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: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610 (GRCm38)	T613I	probably benign	Het
9130019O22Rik	T	A	7: 127,385,283 (GRCm38)	S216C	probably benign	Het
Ajuba	T	C	14: 54,576,402 (GRCm38)	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360 (GRCm38)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474 (GRCm38)	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142 (GRCm38)	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258 (GRCm38)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560 (GRCm38)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963 (GRCm38)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263 (GRCm38)	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543 (GRCm38)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322 (GRCm38)	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151 (GRCm38)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958 (GRCm38)	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580 (GRCm38)	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383 (GRCm38)	V339M	unknown	Het
Cr2	G	A	1: 195,169,340 (GRCm38)	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644 (GRCm38)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743 (GRCm38)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898 (GRCm38)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,424,569 (GRCm38)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,119,373 (GRCm38)	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957 (GRCm38)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952 (GRCm38)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430 (GRCm38)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644 (GRCm38)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699 (GRCm38)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,965,630 (GRCm38)	D147G	probably damaging	Het
Drap1	T	C	19: 5,423,352 (GRCm38)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780 (GRCm38)	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640 (GRCm38)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592 (GRCm38)	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932 (GRCm38)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031 (GRCm38)	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059 (GRCm38)		probably null	Het
Fam208b	A	G	13: 3,573,621 (GRCm38)	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405 (GRCm38)		probably benign	Het
Fbn1	G	T	2: 125,397,852 (GRCm38)	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594 (GRCm38)	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469 (GRCm38)	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812 (GRCm38)	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041 (GRCm38)	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165 (GRCm38)	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542 (GRCm38)		probably null	Het
Heatr4	T	C	12: 83,979,644 (GRCm38)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911 (GRCm38)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099 (GRCm38)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738 (GRCm38)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239 (GRCm38)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842 (GRCm38)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775 (GRCm38)		probably null	Het
Ky	A	G	9: 102,542,329 (GRCm38)	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275 (GRCm38)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248 (GRCm38)		probably benign	Het
Magel2	A	G	7: 62,378,910 (GRCm38)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433 (GRCm38)	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192 (GRCm38)	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687 (GRCm38)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965 (GRCm38)	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674 (GRCm38)	W37*	probably null	Het
Myh14	T	C	7: 44,632,426 (GRCm38)	I803V	probably benign	Het
Ncor2	T	A	5: 125,030,089 (GRCm38)	T744S		Het
Ndufv3	A	G	17: 31,527,622 (GRCm38)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806 (GRCm38)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379 (GRCm38)	E1288A	probably benign	Het
Olfr1205	A	G	2: 88,831,128 (GRCm38)	N4D	possibly damaging	Het
Olfr623	C	A	7: 103,660,881 (GRCm38)	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748 (GRCm38)	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455 (GRCm38)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500 (GRCm38)		probably null	Het
Pcm1	T	G	8: 41,267,344 (GRCm38)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898 (GRCm38)	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834 (GRCm38)	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684 (GRCm38)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906 (GRCm38)	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776 (GRCm38)	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748 (GRCm38)		probably null	Het
Prdm9	T	C	17: 15,555,652 (GRCm38)	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488 (GRCm38)	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735 (GRCm38)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876 (GRCm38)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,031,574 (GRCm38)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm38)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089 (GRCm38)	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927 (GRCm38)	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585 (GRCm38)	Q2169L	probably damaging	Het
Sec16b	A	T	1: 157,531,395 (GRCm38)		probably null	Het
Serpina1a	A	T	12: 103,853,837 (GRCm38)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077 (GRCm38)	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880 (GRCm38)	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841 (GRCm38)	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164 (GRCm38)	D251E		Het
Stc2	G	T	11: 31,367,798 (GRCm38)	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052 (GRCm38)	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990 (GRCm38)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm38)	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479 (GRCm38)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338 (GRCm38)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968 (GRCm38)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838 (GRCm38)	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397 (GRCm38)	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963 (GRCm38)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834 (GRCm38)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592 (GRCm38)		probably benign	Het
Zfp110	T	A	7: 12,849,340 (GRCm38)	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013 (GRCm38)	T445A	probably benign	Het

Other mutations in Scn4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Scn4a	APN	11	106,319,919 (GRCm38)	missense	probably benign
IGL00846:Scn4a	APN	11	106,328,118 (GRCm38)	missense	probably benign	0.03
IGL01063:Scn4a	APN	11	106,330,364 (GRCm38)	missense	possibly damaging	0.91
IGL01450:Scn4a	APN	11	106,324,661 (GRCm38)	missense	probably damaging	0.99
IGL01922:Scn4a	APN	11	106,339,152 (GRCm38)	critical splice donor site	probably null
IGL02589:Scn4a	APN	11	106,328,132 (GRCm38)	missense	probably benign	0.08
IGL03171:Scn4a	APN	11	106,345,592 (GRCm38)	missense	probably benign	0.01
IGL03338:Scn4a	APN	11	106,320,845 (GRCm38)	missense	probably damaging	1.00
BB004:Scn4a	UTSW	11	106,342,383 (GRCm38)	missense	probably damaging	1.00
BB014:Scn4a	UTSW	11	106,342,383 (GRCm38)	missense	probably damaging	1.00
R0013:Scn4a	UTSW	11	106,348,405 (GRCm38)	splice site	probably benign
R0013:Scn4a	UTSW	11	106,348,405 (GRCm38)	splice site	probably benign
R0025:Scn4a	UTSW	11	106,324,560 (GRCm38)	missense	probably benign	0.39
R0025:Scn4a	UTSW	11	106,324,560 (GRCm38)	missense	probably benign	0.39
R0050:Scn4a	UTSW	11	106,320,856 (GRCm38)	missense	probably damaging	1.00
R0113:Scn4a	UTSW	11	106,345,436 (GRCm38)	missense	probably benign	0.00
R0193:Scn4a	UTSW	11	106,320,538 (GRCm38)	nonsense	probably null
R0410:Scn4a	UTSW	11	106,323,949 (GRCm38)	missense	probably damaging	1.00
R0512:Scn4a	UTSW	11	106,345,677 (GRCm38)	missense	probably damaging	1.00
R0532:Scn4a	UTSW	11	106,330,400 (GRCm38)	missense	probably benign	0.45
R1112:Scn4a	UTSW	11	106,320,466 (GRCm38)	missense	probably damaging	1.00
R1279:Scn4a	UTSW	11	106,335,682 (GRCm38)	missense	probably damaging	1.00
R1564:Scn4a	UTSW	11	106,345,541 (GRCm38)	missense	probably benign
R1712:Scn4a	UTSW	11	106,345,547 (GRCm38)	missense	probably benign	0.20
R1712:Scn4a	UTSW	11	106,339,354 (GRCm38)	missense	probably damaging	1.00
R1721:Scn4a	UTSW	11	106,320,820 (GRCm38)	missense	probably benign	0.31
R1900:Scn4a	UTSW	11	106,327,533 (GRCm38)	missense	probably damaging	1.00
R2057:Scn4a	UTSW	11	106,335,724 (GRCm38)	missense	probably damaging	0.97
R2209:Scn4a	UTSW	11	106,339,225 (GRCm38)	missense	probably damaging	1.00
R3416:Scn4a	UTSW	11	106,330,413 (GRCm38)	missense	probably benign	0.00
R3788:Scn4a	UTSW	11	106,344,274 (GRCm38)	missense	probably damaging	0.96
R3853:Scn4a	UTSW	11	106,320,106 (GRCm38)	missense	possibly damaging	0.94
R3861:Scn4a	UTSW	11	106,326,124 (GRCm38)	splice site	probably benign
R3912:Scn4a	UTSW	11	106,320,716 (GRCm38)	missense	probably damaging	1.00
R3983:Scn4a	UTSW	11	106,347,818 (GRCm38)	missense	probably damaging	1.00
R4036:Scn4a	UTSW	11	106,322,057 (GRCm38)	missense	possibly damaging	0.75
R4358:Scn4a	UTSW	11	106,348,857 (GRCm38)	splice site	probably null
R4556:Scn4a	UTSW	11	106,320,446 (GRCm38)	missense	probably benign	0.32
R4677:Scn4a	UTSW	11	106,323,962 (GRCm38)	missense	probably damaging	1.00
R4863:Scn4a	UTSW	11	106,320,002 (GRCm38)	missense	probably damaging	1.00
R4924:Scn4a	UTSW	11	106,320,088 (GRCm38)	missense	possibly damaging	0.83
R5081:Scn4a	UTSW	11	106,348,727 (GRCm38)	missense	probably damaging	0.99
R5298:Scn4a	UTSW	11	106,339,386 (GRCm38)	missense	probably damaging	1.00
R5407:Scn4a	UTSW	11	106,320,889 (GRCm38)	missense	probably damaging	1.00
R5634:Scn4a	UTSW	11	106,330,004 (GRCm38)	missense	probably benign
R6381:Scn4a	UTSW	11	106,320,311 (GRCm38)	missense	probably damaging	1.00
R6468:Scn4a	UTSW	11	106,345,676 (GRCm38)	missense	probably damaging	1.00
R6489:Scn4a	UTSW	11	106,349,180 (GRCm38)	missense	probably benign	0.26
R6549:Scn4a	UTSW	11	106,343,965 (GRCm38)	missense	probably damaging	1.00
R6606:Scn4a	UTSW	11	106,328,073 (GRCm38)	missense	probably benign	0.39
R7037:Scn4a	UTSW	11	106,320,900 (GRCm38)	missense	probably damaging	0.98
R7064:Scn4a	UTSW	11	106,322,157 (GRCm38)	missense	possibly damaging	0.93
R7182:Scn4a	UTSW	11	106,330,308 (GRCm38)	missense	probably benign	0.21
R7194:Scn4a	UTSW	11	106,324,236 (GRCm38)	missense	probably benign	0.32
R7531:Scn4a	UTSW	11	106,348,697 (GRCm38)	splice site	probably null
R7552:Scn4a	UTSW	11	106,349,169 (GRCm38)	missense	probably benign	0.22
R7635:Scn4a	UTSW	11	106,324,632 (GRCm38)	missense	probably damaging	1.00
R7823:Scn4a	UTSW	11	106,342,508 (GRCm38)	missense	probably damaging	1.00
R7832:Scn4a	UTSW	11	106,322,015 (GRCm38)	missense	probably benign	0.01
R7927:Scn4a	UTSW	11	106,342,383 (GRCm38)	missense	probably damaging	1.00
R8122:Scn4a	UTSW	11	106,330,331 (GRCm38)	missense	probably benign	0.02
R8131:Scn4a	UTSW	11	106,341,541 (GRCm38)	missense	probably benign
R9093:Scn4a	UTSW	11	106,319,812 (GRCm38)	missense	probably benign
R9099:Scn4a	UTSW	11	106,320,174 (GRCm38)	missense	probably damaging	1.00
R9137:Scn4a	UTSW	11	106,323,910 (GRCm38)	missense	probably damaging	1.00
R9163:Scn4a	UTSW	11	106,326,250 (GRCm38)	missense	probably damaging	1.00
R9255:Scn4a	UTSW	11	106,324,228 (GRCm38)	missense	probably damaging	0.99
R9627:Scn4a	UTSW	11	106,322,013 (GRCm38)	missense	probably benign
R9780:Scn4a	UTSW	11	106,335,409 (GRCm38)	missense	probably damaging	1.00
X0012:Scn4a	UTSW	11	106,330,061 (GRCm38)	missense	probably damaging	1.00
X0065:Scn4a	UTSW	11	106,322,178 (GRCm38)	missense	probably damaging	0.98
Z1176:Scn4a	UTSW	11	106,341,530 (GRCm38)	missense	probably damaging	0.97
Z1176:Scn4a	UTSW	11	106,341,529 (GRCm38)	missense	probably benign	0.26
Z1176:Scn4a	UTSW	11	106,321,908 (GRCm38)	missense	probably null	0.29
Z1177:Scn4a	UTSW	11	106,341,542 (GRCm38)	missense	probably benign
Z1177:Scn4a	UTSW	11	106,330,208 (GRCm38)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCCACAAAGTCAGAAAGGCG -3'
(R):5'- GGCATCGACGACATGTTCAAC -3'

Sequencing Primer
(F):5'- TCAGAAAGGCGGCTGTAGTC -3'
(R):5'- GACGACATGTTCAACTTTGAGACC -3'

Posted On

2019-10-17