Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01450:Scn4a'

84595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn4a

Ensembl Gene

ENSMUSG00000001027

Gene Name

sodium channel, voltage-gated, type IV, alpha

Synonyms

mH2, SkM1, Nav1.4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01450

Quality Score

Status

Chromosome

Chromosomal Location

106209418-106244114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106215487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1163 (I1163T)

Ref Sequence

ENSEMBL: ENSMUSP00000021056 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021056
AA Change: I1163T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: I1163T

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,288,919 (GRCm39)	R143Q	possibly damaging	Het
Adh4	T	A	3: 138,129,794 (GRCm39)	C207S	probably benign	Het
Akap8	C	A	17: 32,534,661 (GRCm39)	R317L	probably damaging	Het
Aptx	T	C	4: 40,688,133 (GRCm39)	T182A	probably damaging	Het
Ccar2	A	T	14: 70,377,200 (GRCm39)		probably benign	Het
Cd300ld2	T	A	11: 114,903,369 (GRCm39)		probably benign	Het
Cgnl1	T	C	9: 71,539,144 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,355,673 (GRCm39)		probably benign	Het
Cyp2j5	T	A	4: 96,546,927 (GRCm39)	T196S	probably damaging	Het
Dctn1	T	C	6: 83,171,092 (GRCm39)		probably benign	Het
Dync2li1	A	T	17: 84,940,984 (GRCm39)	T67S	possibly damaging	Het
Fetub	A	G	16: 22,747,986 (GRCm39)	N54S	probably benign	Het
Gpld1	T	C	13: 25,163,664 (GRCm39)	Y486H	probably damaging	Het
Grb10	T	A	11: 11,920,432 (GRCm39)	H62L	probably damaging	Het
H6pd	T	G	4: 150,068,575 (GRCm39)	H264P	probably damaging	Het
Lmtk2	T	C	5: 144,111,520 (GRCm39)	S747P	probably benign	Het
Mtcl3	T	A	10: 29,072,319 (GRCm39)	M537K	probably damaging	Het
Nkpd1	T	C	7: 19,257,550 (GRCm39)	F293S	probably damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Osbpl1a	A	C	18: 13,004,152 (GRCm39)	F422V	possibly damaging	Het
Pclo	A	T	5: 14,727,207 (GRCm39)		probably benign	Het
Phc3	G	A	3: 30,968,653 (GRCm39)	R825C	probably damaging	Het
Plk2	G	A	13: 110,532,858 (GRCm39)	V140M	probably damaging	Het
Racgap1	A	G	15: 99,524,244 (GRCm39)	S388P	probably benign	Het
Rap1gds1	A	T	3: 138,671,681 (GRCm39)	N146K	probably damaging	Het
Rgs7	C	T	1: 174,913,746 (GRCm39)	V1M	probably benign	Het
Rps6ka5	A	T	12: 100,519,250 (GRCm39)		probably benign	Het
Selenop	C	T	15: 3,306,755 (GRCm39)	T178M	probably benign	Het
Shank2	G	T	7: 143,838,805 (GRCm39)	E680*	probably null	Het
Sipa1l2	A	C	8: 126,149,316 (GRCm39)		probably null	Het
Slc14a2	T	C	18: 78,226,745 (GRCm39)	T437A	probably damaging	Het
Smarcc2	C	T	10: 128,305,189 (GRCm39)	P307S	probably damaging	Het
Sptb	C	A	12: 76,671,014 (GRCm39)	R443L	possibly damaging	Het
Stpg3	T	C	2: 25,104,622 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,952,858 (GRCm39)	E42V	possibly damaging	Het
Topors	C	A	4: 40,262,417 (GRCm39)	R289L	probably damaging	Het
Ubash3a	C	A	17: 31,427,205 (GRCm39)	A38E	probably damaging	Het
Vmn2r121	T	A	X: 123,040,888 (GRCm39)	Y481F	possibly damaging	Het
Vps54	A	T	11: 21,241,135 (GRCm39)	E359D	probably benign	Het
Xkr6	G	A	14: 64,035,664 (GRCm39)	R255H	probably damaging	Het
Zfp750	C	T	11: 121,403,855 (GRCm39)	R340H	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
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
R4556:Scn4a	UTSW	11	106,211,272 (GRCm39)	missense	probably benign	0.32
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

Posted On

2013-11-11