Mutagenetix > Incidental Mutation

Incidental Mutation 'R4556:Scn4a'

341878

Institutional Source

Beutler Lab

Gene Symbol

Scn4a

Ensembl Gene

ENSMUSG00000001027

Gene Name

sodium channel, voltage-gated, type IV, alpha

Synonyms

mH2, SkM1, Nav1.4

MMRRC Submission

041597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106209418-106244114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106211272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1582 (I1582V)

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: I1582V

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: I1582V

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,667,937 (GRCm39)		probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adamts17	A	T	7: 66,677,641 (GRCm39)	E518D	probably damaging	Het
Cdk5rap2	A	G	4: 70,157,549 (GRCm39)	S1601P	probably damaging	Het
Erc2	A	C	14: 28,024,861 (GRCm39)	D580A	probably damaging	Het
Fbxo4	A	G	15: 3,995,187 (GRCm39)	*386R	probably null	Het
Fbxo42	T	A	4: 140,926,321 (GRCm39)	H334Q	probably damaging	Het
Gdf5	A	G	2: 155,783,782 (GRCm39)	R24G	probably benign	Het
Lama3	G	T	18: 12,612,816 (GRCm39)	R1200L	possibly damaging	Het
Lxn	T	A	3: 67,365,953 (GRCm39)	I182F	possibly damaging	Het
Mbd5	G	A	2: 49,169,406 (GRCm39)	G1526R	probably damaging	Het
Mcub	G	A	3: 129,709,384 (GRCm39)	Q310*	probably null	Het
Ndufaf7	T	C	17: 79,249,516 (GRCm39)	S138P	probably benign	Het
Nktr	A	G	9: 121,570,189 (GRCm39)	T90A	probably damaging	Het
Nr1h5	G	A	3: 102,853,457 (GRCm39)	A350V	probably benign	Het
Or1e29	G	A	11: 73,667,307 (GRCm39)	T282I	possibly damaging	Het
Or7e174	T	C	9: 20,012,619 (GRCm39)	L188P	possibly damaging	Het
Pros1	A	G	16: 62,721,036 (GRCm39)	K197R	possibly damaging	Het
Rmnd5b	G	T	11: 51,517,732 (GRCm39)		probably null	Het
Rnf25	A	T	1: 74,638,264 (GRCm39)	I26N	probably damaging	Het
Sh2d3c	A	G	2: 32,643,021 (GRCm39)	T583A	possibly damaging	Het
Sh3tc1	T	C	5: 35,864,426 (GRCm39)	Y587C	probably damaging	Het
Slc6a11	A	G	6: 114,221,773 (GRCm39)	S488G	probably benign	Het
Smim22	T	A	16: 4,825,730 (GRCm39)	F38L	possibly damaging	Het
Stab2	T	G	10: 86,803,543 (GRCm39)	E335D	possibly damaging	Het
Tas2r102	T	C	6: 132,739,878 (GRCm39)	F262S	probably damaging	Het
Thap12	A	G	7: 98,365,052 (GRCm39)	N407D	probably benign	Het
Tmem225	T	C	9: 40,060,762 (GRCm39)	F107S	probably damaging	Het
Vmn1r229	T	A	17: 21,034,953 (GRCm39)	V66E	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,804 (GRCm39)	S67P	possibly damaging	Het
Xrcc4	A	T	13: 90,140,623 (GRCm39)	H195Q	probably benign	Het

Other mutations in Scn4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Scn4a	APN	11	106,210,745 (GRCm39)	missense	probably benign
IGL00846:Scn4a	APN	11	106,218,944 (GRCm39)	missense	probably benign	0.03
IGL01063:Scn4a	APN	11	106,221,190 (GRCm39)	missense	possibly damaging	0.91
IGL01450:Scn4a	APN	11	106,215,487 (GRCm39)	missense	probably damaging	0.99
IGL01922:Scn4a	APN	11	106,229,978 (GRCm39)	critical splice donor site	probably null
IGL02589:Scn4a	APN	11	106,218,958 (GRCm39)	missense	probably benign	0.08
IGL03171:Scn4a	APN	11	106,236,418 (GRCm39)	missense	probably benign	0.01
IGL03338:Scn4a	APN	11	106,211,671 (GRCm39)	missense	probably damaging	1.00
BB004:Scn4a	UTSW	11	106,233,209 (GRCm39)	missense	probably damaging	1.00
BB014:Scn4a	UTSW	11	106,233,209 (GRCm39)	missense	probably damaging	1.00
R0013:Scn4a	UTSW	11	106,239,231 (GRCm39)	splice site	probably benign
R0013:Scn4a	UTSW	11	106,239,231 (GRCm39)	splice site	probably benign
R0025:Scn4a	UTSW	11	106,215,386 (GRCm39)	missense	probably benign	0.39
R0025:Scn4a	UTSW	11	106,215,386 (GRCm39)	missense	probably benign	0.39
R0050:Scn4a	UTSW	11	106,211,682 (GRCm39)	missense	probably damaging	1.00
R0113:Scn4a	UTSW	11	106,236,262 (GRCm39)	missense	probably benign	0.00
R0193:Scn4a	UTSW	11	106,211,364 (GRCm39)	nonsense	probably null
R0410:Scn4a	UTSW	11	106,214,775 (GRCm39)	missense	probably damaging	1.00
R0512:Scn4a	UTSW	11	106,236,503 (GRCm39)	missense	probably damaging	1.00
R0532:Scn4a	UTSW	11	106,221,226 (GRCm39)	missense	probably benign	0.45
R1112:Scn4a	UTSW	11	106,211,292 (GRCm39)	missense	probably damaging	1.00
R1279:Scn4a	UTSW	11	106,226,508 (GRCm39)	missense	probably damaging	1.00
R1564:Scn4a	UTSW	11	106,236,367 (GRCm39)	missense	probably benign
R1712:Scn4a	UTSW	11	106,236,373 (GRCm39)	missense	probably benign	0.20
R1712:Scn4a	UTSW	11	106,230,180 (GRCm39)	missense	probably damaging	1.00
R1721:Scn4a	UTSW	11	106,211,646 (GRCm39)	missense	probably benign	0.31
R1900:Scn4a	UTSW	11	106,218,359 (GRCm39)	missense	probably damaging	1.00
R2057:Scn4a	UTSW	11	106,226,550 (GRCm39)	missense	probably damaging	0.97
R2209:Scn4a	UTSW	11	106,230,051 (GRCm39)	missense	probably damaging	1.00
R3416:Scn4a	UTSW	11	106,221,239 (GRCm39)	missense	probably benign	0.00
R3788:Scn4a	UTSW	11	106,235,100 (GRCm39)	missense	probably damaging	0.96
R3853:Scn4a	UTSW	11	106,210,932 (GRCm39)	missense	possibly damaging	0.94
R3861:Scn4a	UTSW	11	106,216,950 (GRCm39)	splice site	probably benign
R3912:Scn4a	UTSW	11	106,211,542 (GRCm39)	missense	probably damaging	1.00
R3983:Scn4a	UTSW	11	106,238,644 (GRCm39)	missense	probably damaging	1.00
R4036:Scn4a	UTSW	11	106,212,883 (GRCm39)	missense	possibly damaging	0.75
R4358:Scn4a	UTSW	11	106,239,683 (GRCm39)	splice site	probably null
R4677:Scn4a	UTSW	11	106,214,788 (GRCm39)	missense	probably damaging	1.00
R4863:Scn4a	UTSW	11	106,210,828 (GRCm39)	missense	probably damaging	1.00
R4924:Scn4a	UTSW	11	106,210,914 (GRCm39)	missense	possibly damaging	0.83
R5081:Scn4a	UTSW	11	106,239,553 (GRCm39)	missense	probably damaging	0.99
R5298:Scn4a	UTSW	11	106,230,212 (GRCm39)	missense	probably damaging	1.00
R5407:Scn4a	UTSW	11	106,211,715 (GRCm39)	missense	probably damaging	1.00
R5634:Scn4a	UTSW	11	106,220,830 (GRCm39)	missense	probably benign
R6381:Scn4a	UTSW	11	106,211,137 (GRCm39)	missense	probably damaging	1.00
R6468:Scn4a	UTSW	11	106,236,502 (GRCm39)	missense	probably damaging	1.00
R6489:Scn4a	UTSW	11	106,240,006 (GRCm39)	missense	probably benign	0.26
R6549:Scn4a	UTSW	11	106,234,791 (GRCm39)	missense	probably damaging	1.00
R6606:Scn4a	UTSW	11	106,218,899 (GRCm39)	missense	probably benign	0.39
R7037:Scn4a	UTSW	11	106,211,726 (GRCm39)	missense	probably damaging	0.98
R7064:Scn4a	UTSW	11	106,212,983 (GRCm39)	missense	possibly damaging	0.93
R7182:Scn4a	UTSW	11	106,221,134 (GRCm39)	missense	probably benign	0.21
R7194:Scn4a	UTSW	11	106,215,062 (GRCm39)	missense	probably benign	0.32
R7531:Scn4a	UTSW	11	106,239,523 (GRCm39)	splice site	probably null
R7552:Scn4a	UTSW	11	106,239,995 (GRCm39)	missense	probably benign	0.22
R7570:Scn4a	UTSW	11	106,211,299 (GRCm39)	missense	possibly damaging	0.54
R7635:Scn4a	UTSW	11	106,215,458 (GRCm39)	missense	probably damaging	1.00
R7823:Scn4a	UTSW	11	106,233,334 (GRCm39)	missense	probably damaging	1.00
R7832:Scn4a	UTSW	11	106,212,841 (GRCm39)	missense	probably benign	0.01
R7927:Scn4a	UTSW	11	106,233,209 (GRCm39)	missense	probably damaging	1.00
R8122:Scn4a	UTSW	11	106,221,157 (GRCm39)	missense	probably benign	0.02
R8131:Scn4a	UTSW	11	106,232,367 (GRCm39)	missense	probably benign
R9093:Scn4a	UTSW	11	106,210,638 (GRCm39)	missense	probably benign
R9099:Scn4a	UTSW	11	106,211,000 (GRCm39)	missense	probably damaging	1.00
R9137:Scn4a	UTSW	11	106,214,736 (GRCm39)	missense	probably damaging	1.00
R9163:Scn4a	UTSW	11	106,217,076 (GRCm39)	missense	probably damaging	1.00
R9255:Scn4a	UTSW	11	106,215,054 (GRCm39)	missense	probably damaging	0.99
R9627:Scn4a	UTSW	11	106,212,839 (GRCm39)	missense	probably benign
R9780:Scn4a	UTSW	11	106,226,235 (GRCm39)	missense	probably damaging	1.00
X0012:Scn4a	UTSW	11	106,220,887 (GRCm39)	missense	probably damaging	1.00
X0065:Scn4a	UTSW	11	106,213,004 (GRCm39)	missense	probably damaging	0.98
Z1176:Scn4a	UTSW	11	106,232,356 (GRCm39)	missense	probably damaging	0.97
Z1176:Scn4a	UTSW	11	106,232,355 (GRCm39)	missense	probably benign	0.26
Z1176:Scn4a	UTSW	11	106,212,734 (GRCm39)	missense	probably null	0.29
Z1177:Scn4a	UTSW	11	106,232,368 (GRCm39)	missense	probably benign
Z1177:Scn4a	UTSW	11	106,221,034 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CAGGGTGTCCACAAAGTCAG -3'
(R):5'- ACGACATGTTCAACTTTGAGACC -3'

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

Posted On

2015-09-24