Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03171:Scn4a'

411831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn4a

Ensembl Gene

ENSMUSG00000001027

Gene Name

sodium channel, voltage-gated, type IV, alpha

Synonyms

SkM1, mH2, Nav1.4

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03171

Quality Score

Status

Chromosome

Chromosomal Location

106318592-106353288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106345592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 281 (V281L)

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: V281L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: V281L

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	A	6: 83,162,395	F434Y	possibly damaging	Het
Adam19	G	T	11: 46,138,854	A709S	probably damaging	Het
Adgrf3	A	T	5: 30,196,294	L42Q	probably damaging	Het
D430041D05Rik	T	C	2: 104,241,163	N1264S	possibly damaging	Het
Dnah9	T	G	11: 65,981,241	K2721T	probably benign	Het
Efr3b	C	T	12: 3,968,622	A575T	probably benign	Het
Esco1	T	C	18: 10,594,263	E341G	probably damaging	Het
Ezh2	G	A	6: 47,540,781	R574*	probably null	Het
Fam169a	G	T	13: 97,110,014		probably benign	Het
Fry	T	C	5: 150,380,809	Y555H	probably damaging	Het
Gm17175	A	C	14: 51,571,608	S100R	probably damaging	Het
Gm4778	C	A	3: 94,266,455	H257N	probably benign	Het
Gm527	T	C	12: 64,921,157	Y118H	probably damaging	Het
Gm8765	T	A	13: 50,702,352	S675R	probably benign	Het
H2-M10.4	G	T	17: 36,461,250	T202N	probably damaging	Het
Igf1	A	T	10: 87,864,821	T36S	probably damaging	Het
Ints8	C	T	4: 11,231,702	V428I	probably benign	Het
Itga6	G	A	2: 71,841,329		probably null	Het
Jmjd1c	A	G	10: 67,225,498	E1210G	possibly damaging	Het
Kdm2a	A	T	19: 4,356,764	V134E	probably damaging	Het
Limch1	C	A	5: 67,034,194	N947K	possibly damaging	Het
Met	T	C	6: 17,562,273		probably benign	Het
Neb	A	G	2: 52,216,364		probably benign	Het
Ogg1	A	G	6: 113,333,414	I274V	possibly damaging	Het
Ola1	A	T	2: 73,156,853	I145K	probably benign	Het
Olfr458	G	A	6: 42,460,530	T163I	possibly damaging	Het
Pacrg	A	G	17: 10,576,533	V166A	possibly damaging	Het
Pira2	T	A	7: 3,842,605	E260V	probably damaging	Het
Prickle3	T	C	X: 7,665,287	C277R	probably damaging	Het
Psen1	A	G	12: 83,714,864	T147A	probably damaging	Het
Pxk	C	T	14: 8,151,014		probably benign	Het
Scn11a	G	A	9: 119,819,847	P50L	probably benign	Het
Shcbp1	A	G	8: 4,739,166	I551T	probably benign	Het
Snx13	T	A	12: 35,100,540	I281N	probably benign	Het
Tdo2	T	C	3: 81,967,029	K209E	probably benign	Het
Trip6	C	T	5: 137,312,884	R190Q	probably benign	Het
Ttc30a1	C	T	2: 75,980,507	A411T	probably benign	Het
Ubqln1	T	A	13: 58,180,858	E426D	probably damaging	Het
Zfp607b	C	A	7: 27,693,595	N49K	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
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
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

Posted On

2016-08-02