Mutagenetix > Incidental Mutation

Incidental Mutation 'R6606:Scn4a'

525705

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

044729-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6606 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106209418-106244114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106218899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 973 (E973G)

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: E973G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: E973G

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

100% (35/35)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	G	2: 120,980,769 (GRCm39)	E21G	probably damaging	Het
Ankk1	T	C	9: 49,327,646 (GRCm39)	Y511C	probably benign	Het
Atn1	G	A	6: 124,721,919 (GRCm39)		probably benign	Het
Ccnt2	C	A	1: 127,730,978 (GRCm39)	S618R	probably benign	Het
Ces4a	A	G	8: 105,876,010 (GRCm39)	N517S	possibly damaging	Het
Chd4	C	A	6: 125,086,389 (GRCm39)	T963K	probably damaging	Het
Crlf1	A	G	8: 70,953,824 (GRCm39)	Y310C	probably damaging	Het
Cyyr1	A	G	16: 85,254,438 (GRCm39)	Y155H	probably benign	Het
Dnah3	A	T	7: 119,660,179 (GRCm39)	I831N	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Echdc1	A	G	10: 29,189,711 (GRCm39)	I17V	probably benign	Het
Ephx4	G	T	5: 107,560,931 (GRCm39)	V28F	probably damaging	Het
Erich6	A	G	3: 58,523,921 (GRCm39)	I651T	probably damaging	Het
Fbln7	A	G	2: 128,719,296 (GRCm39)	Q31R	possibly damaging	Het
Fbxl17	A	G	17: 63,794,783 (GRCm39)	V433A	probably damaging	Het
Gm20449	T	C	7: 41,108,253 (GRCm39)	E39G	unknown	Het
Gprc5b	G	A	7: 118,583,296 (GRCm39)	P191L	probably benign	Het
Klhl1	T	C	14: 96,360,658 (GRCm39)	T731A	possibly damaging	Het
Myo3b	A	G	2: 70,062,829 (GRCm39)	D371G	possibly damaging	Het
Or10n1	G	A	9: 39,525,378 (GRCm39)	V172M	probably damaging	Het
P4ha3	G	T	7: 99,954,851 (GRCm39)	C303F	probably damaging	Het
Parp10	C	A	15: 76,124,308 (GRCm39)	V782L	possibly damaging	Het
Prpf40a	A	G	2: 53,041,763 (GRCm39)	S501P	probably damaging	Het
Ptpn3	A	T	4: 57,265,104 (GRCm39)		probably null	Het
Ptprz1	A	C	6: 23,002,500 (GRCm39)	H1530P	probably benign	Het
Rasa4	A	G	5: 136,132,801 (GRCm39)	K18E	probably damaging	Het
Rit1	A	G	3: 88,624,945 (GRCm39)	E48G	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rspo3	C	T	10: 29,330,277 (GRCm39)	R228K	unknown	Het
Scai	A	T	2: 38,965,147 (GRCm39)	S566T	probably benign	Het
Slc15a3	T	A	19: 10,826,046 (GRCm39)	F246I	possibly damaging	Het
Stfa3	T	C	16: 36,275,647 (GRCm39)	D27G	possibly damaging	Het
Uba5	T	C	9: 103,932,420 (GRCm39)	D181G	probably damaging	Het
Urb1	T	C	16: 90,607,156 (GRCm39)	T25A	probably benign	Het
Zbtb43	G	T	2: 33,345,066 (GRCm39)	S16Y	probably damaging	Het
Zyg11b	G	A	4: 108,093,286 (GRCm39)	A717V	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
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
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'- TTCACAAGGAGGCTCAGGAC -3'
(R):5'- GATGAGTGGCTCCTGCTCTATTC -3'

Sequencing Primer
(F):5'- GCCTAGGCTCTTTGGTAAAATGCC -3'
(R):5'- GAGTGGCTCCTGCTCTATTCTCTTC -3'

Posted On

2018-06-22