Mutagenetix > Incidental Mutation

Incidental Mutation 'R8122:Scn4a'

631562

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

067551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106209418-106244114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106221157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 834 (L834P)

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: L834P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027
AA Change: L834P

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: 99.8%
3x: 99.7%
10x: 99.0%
20x: 97.5%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,433,761 (GRCm39)	Y426C	probably damaging	Het
Acsbg3	T	A	17: 57,193,670 (GRCm39)	V672E	possibly damaging	Het
Adgrv1	A	G	13: 81,419,037 (GRCm39)	V5986A	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Amer2	A	T	14: 60,616,791 (GRCm39)	M329L	possibly damaging	Het
Arhgap20	A	G	9: 51,761,293 (GRCm39)	N1048S	probably damaging	Het
Asah1	T	C	8: 41,796,767 (GRCm39)	E305G	probably benign	Het
AW551984	T	A	9: 39,510,665 (GRCm39)	K223N	probably damaging	Het
Bptf	C	A	11: 106,927,417 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,446 (GRCm39)	N77D	probably benign	Het
Capn13	T	A	17: 73,674,205 (GRCm39)	I83F	probably damaging	Het
Cd6	A	G	19: 10,770,231 (GRCm39)	F487L	probably damaging	Het
Cit	T	C	5: 116,107,069 (GRCm39)	V1067A	probably damaging	Het
Cspg4b	A	T	13: 113,455,442 (GRCm39)	D496V		Het
Csrnp1	T	C	9: 119,802,273 (GRCm39)	D262G	probably damaging	Het
Cyp2d11	T	A	15: 82,276,744 (GRCm39)	Q65L	probably benign	Het
Dbt	T	A	3: 116,313,891 (GRCm39)	C19*	probably null	Het
Dgkg	A	C	16: 22,385,295 (GRCm39)		probably null	Het
Eif4g2	T	C	7: 110,677,760 (GRCm39)	I118V	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Kcnn2	T	G	18: 45,810,005 (GRCm39)	V414G	probably damaging	Het
Lama2	G	A	10: 26,930,592 (GRCm39)	H2055Y	possibly damaging	Het
Loxl3	T	A	6: 83,026,240 (GRCm39)	W443R	probably damaging	Het
Mab21l1	A	T	3: 55,690,905 (GRCm39)	D164V	probably benign	Het
Mroh7	T	C	4: 106,559,726 (GRCm39)	T734A	probably damaging	Het
Or2y1f	C	A	11: 49,184,401 (GRCm39)	N84K	probably damaging	Het
Or8g35	A	G	9: 39,381,822 (GRCm39)	S67P	probably damaging	Het
Pkhd1	C	T	1: 20,632,682 (GRCm39)	E578K	probably damaging	Het
Pld2	T	A	11: 70,432,259 (GRCm39)	L126*	probably null	Het
Polk	A	T	13: 96,620,291 (GRCm39)	N716K	probably benign	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Prom1	T	C	5: 44,170,295 (GRCm39)	K669E	probably benign	Het
Sag	A	G	1: 87,762,289 (GRCm39)	D318G	probably damaging	Het
Scfd1	T	A	12: 51,480,052 (GRCm39)	V528E	possibly damaging	Het
Shank1	G	T	7: 43,983,015 (GRCm39)	G637V	unknown	Het
Slc12a6	A	G	2: 112,097,167 (GRCm39)	M1V	probably null	Het
St6gal1	A	G	16: 23,173,644 (GRCm39)	K242R	probably benign	Het
Syt3	A	G	7: 44,045,153 (GRCm39)	Y495C	probably damaging	Het
Taar8c	C	T	10: 23,977,107 (GRCm39)	S235N	probably benign	Het
Tmem183a	A	T	1: 134,282,503 (GRCm39)	C201S	probably benign	Het
Top2a	T	C	11: 98,889,993 (GRCm39)	I1237V	probably benign	Het
Trub1	G	T	19: 57,473,563 (GRCm39)	V207L	probably benign	Het
Ttll13	T	A	7: 79,909,217 (GRCm39)	I634N	probably benign	Het
Ube2j1	T	G	4: 33,045,145 (GRCm39)	N208K	probably benign	Het
Wdr17	A	G	8: 55,118,011 (GRCm39)	S569P	probably damaging	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
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
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'- TAAGGTGGTCCATCTCGATGC -3'
(R):5'- ATGAATGAAGGTGGTATCCCC -3'

Sequencing Primer
(F):5'- TCCATCTCGATGCTGGAGC -3'
(R):5'- ATGAAGGTGGTATCCCCCAGAC -3'

Posted On

2020-06-30