Mutagenetix > Incidental Mutation

Incidental Mutation 'R8991:Scn7a'

684387

Institutional Source

Beutler Lab

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

1110034K09Rik, NaG, Nav2, Nax, Nav2.3, Scn6a

MMRRC Submission

068716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R8991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66503770-66615254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66514588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1062 (F1062S)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042792]

AlphaFold

B1AYL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042792
AA Change: F1062S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: F1062S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	118	405	4.7e-53	PFAM
coiled coil region	415	443	N/A	INTRINSIC
Pfam:Ion_trans	505	739	5.8e-36	PFAM
Pfam:Na_trans_assoc	741	929	4.1e-17	PFAM
Pfam:Ion_trans	933	1204	3e-49	PFAM
Pfam:Ion_trans	1250	1505	5e-37	PFAM
IQ	1624	1646	6.4e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,232 (GRCm39)	K54I	probably damaging	Het
Ankrd34b	T	A	13: 92,575,725 (GRCm39)	I319K	probably benign	Het
Art2b	G	A	7: 101,229,590 (GRCm39)	A103V	probably damaging	Het
Atmin	T	G	8: 117,679,665 (GRCm39)	F126C	probably damaging	Het
Cc2d1b	A	T	4: 108,482,143 (GRCm39)	N139I	probably benign	Het
Cep128	T	C	12: 91,200,987 (GRCm39)	Y794C	probably damaging	Het
Cic	T	A	7: 24,988,885 (GRCm39)	V1829D	probably damaging	Het
Cnep1r1	G	A	8: 88,856,447 (GRCm39)	R99Q	unknown	Het
Cpq	G	C	15: 33,213,353 (GRCm39)	R124P	probably damaging	Het
Crtc3	A	T	7: 80,327,191 (GRCm39)	V45D	probably damaging	Het
Dchs2	T	G	3: 83,036,143 (GRCm39)	S297A	probably benign	Het
Dnah9	A	T	11: 65,777,506 (GRCm39)	S3681T	probably damaging	Het
Dock8	T	C	19: 25,165,731 (GRCm39)	Y1872H	possibly damaging	Het
Fbn2	T	A	18: 58,239,395 (GRCm39)	Q558L	probably damaging	Het
Fn1	A	G	1: 71,676,491 (GRCm39)	V580A	probably benign	Het
Fscn3	C	T	6: 28,434,472 (GRCm39)	T349I	probably benign	Het
Fsip2	T	C	2: 82,815,370 (GRCm39)	V3701A	probably benign	Het
Hectd4	T	C	5: 121,496,347 (GRCm39)	V3913A	probably benign	Het
Htt	G	A	5: 35,063,062 (GRCm39)	G2898D	probably damaging	Het
Ighv3-4	T	G	12: 114,217,266 (GRCm39)	E108D	probably benign	Het
Irx5	G	T	8: 93,087,135 (GRCm39)	E356*	probably null	Het
Kcnh6	A	G	11: 105,909,971 (GRCm39)	I499V	possibly damaging	Het
Kcnj10	T	A	1: 172,196,963 (GRCm39)	I159N	probably damaging	Het
Kcnmb4	T	A	10: 116,282,238 (GRCm39)	H153L	probably benign	Het
Klhl8	T	C	5: 104,018,404 (GRCm39)	N409S	probably benign	Het
Ksr1	A	G	11: 78,936,014 (GRCm39)	S117P	probably benign	Het
Lrfn3	A	T	7: 30,059,244 (GRCm39)	V327E	probably damaging	Het
Mrc2	C	A	11: 105,229,740 (GRCm39)	H724Q	probably benign	Het
Mtf2	T	A	5: 108,248,805 (GRCm39)	F372L	probably benign	Het
Nipbl	A	T	15: 8,320,997 (GRCm39)	D2703E	probably damaging	Het
Nova1	T	C	12: 46,863,800 (GRCm39)	Y50C	unknown	Het
Ofcc1	T	A	13: 40,296,277 (GRCm39)	Y519F	probably benign	Het
Or2aj5	T	A	16: 19,424,511 (GRCm39)	K301N	probably damaging	Het
Or4f54	T	C	2: 111,123,348 (GRCm39)	I245T	probably damaging	Het
Or4f61	A	T	2: 111,922,682 (GRCm39)	D121E	probably damaging	Het
Or4p19	A	C	2: 88,242,723 (GRCm39)	M93R	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Phrf1	A	G	7: 140,823,671 (GRCm39)	D4G	unknown	Het
Ppp4r3b	A	T	11: 29,123,306 (GRCm39)	M1L	probably damaging	Het
Prmt7	A	G	8: 106,943,874 (GRCm39)		probably null	Het
Retnlg	A	G	16: 48,694,038 (GRCm39)	T65A	possibly damaging	Het
Sbf2	T	C	7: 109,911,896 (GRCm39)	N1763D	probably benign	Het
Scube3	A	C	17: 28,383,027 (GRCm39)	K402Q	probably damaging	Het
Skic2	T	A	17: 35,059,166 (GRCm39)	D1067V	probably damaging	Het
Slc25a22	C	A	7: 141,013,871 (GRCm39)	D30Y	probably damaging	Het
Smim17	A	T	7: 6,427,720 (GRCm39)	Q2L	possibly damaging	Het
Son	G	T	16: 91,453,366 (GRCm39)	M704I	probably benign	Het
Son	C	T	16: 91,453,608 (GRCm39)	S785F	possibly damaging	Het
Tnfrsf21	G	A	17: 43,396,299 (GRCm39)	V528M	probably benign	Het
Tnks1bp1	T	C	2: 84,894,290 (GRCm39)	S1406P	probably benign	Het
Trim21	A	T	7: 102,212,908 (GRCm39)	V130E	probably benign	Het
Try5	T	A	6: 41,289,295 (GRCm39)	I94F	probably benign	Het
Tubb4a	C	T	17: 57,388,169 (GRCm39)	V286I	probably benign	Het
Vmn1r180	T	A	7: 23,652,076 (GRCm39)	S80T	probably benign	Het
Vmn2r114	A	C	17: 23,529,286 (GRCm39)	I272S	probably damaging	Het
Vmn2r12	A	T	5: 109,234,033 (GRCm39)	Y726*	probably null	Het
Zdhhc16	T	C	19: 41,926,465 (GRCm39)	F83L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het

Other mutations in Scn7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Scn7a	APN	2	66,513,671 (GRCm39)	splice site	probably benign
IGL00432:Scn7a	APN	2	66,572,326 (GRCm39)	nonsense	probably null
IGL00720:Scn7a	APN	2	66,506,388 (GRCm39)	missense	possibly damaging	0.67
IGL00783:Scn7a	APN	2	66,522,908 (GRCm39)	missense	probably damaging	0.99
IGL00784:Scn7a	APN	2	66,522,908 (GRCm39)	missense	probably damaging	0.99
IGL00926:Scn7a	APN	2	66,514,475 (GRCm39)	missense	probably benign	0.06
IGL00963:Scn7a	APN	2	66,534,289 (GRCm39)	splice site	probably benign
IGL01099:Scn7a	APN	2	66,514,582 (GRCm39)	missense	probably damaging	1.00
IGL01326:Scn7a	APN	2	66,582,604 (GRCm39)	missense	probably benign	0.13
IGL01538:Scn7a	APN	2	66,534,196 (GRCm39)	missense	probably benign
IGL01624:Scn7a	APN	2	66,582,269 (GRCm39)	missense	probably benign	0.07
IGL01794:Scn7a	APN	2	66,505,853 (GRCm39)	missense	probably benign
IGL02100:Scn7a	APN	2	66,505,843 (GRCm39)	makesense	probably null
IGL02326:Scn7a	APN	2	66,530,392 (GRCm39)	missense	probably benign	0.00
IGL02472:Scn7a	APN	2	66,582,658 (GRCm39)	missense	probably damaging	1.00
IGL02528:Scn7a	APN	2	66,530,519 (GRCm39)	missense	probably damaging	1.00
IGL02798:Scn7a	APN	2	66,544,219 (GRCm39)	missense	probably benign	0.00
IGL03026:Scn7a	APN	2	66,506,442 (GRCm39)	missense	probably damaging	0.99
IGL03071:Scn7a	APN	2	66,530,291 (GRCm39)	missense	possibly damaging	0.89
IGL03080:Scn7a	APN	2	66,528,160 (GRCm39)	missense	probably benign	0.01
IGL03180:Scn7a	APN	2	66,506,578 (GRCm39)	missense	possibly damaging	0.94
IGL03337:Scn7a	APN	2	66,506,304 (GRCm39)	missense	probably benign	0.00
alert	UTSW	2	66,510,590 (GRCm39)	nonsense	probably null
glimmer	UTSW	2	66,574,047 (GRCm39)	missense	probably damaging	0.96
Uptick	UTSW	2	66,530,393 (GRCm39)	nonsense	probably null
PIT4514001:Scn7a	UTSW	2	66,514,523 (GRCm39)	missense	probably damaging	1.00
R0004:Scn7a	UTSW	2	66,518,139 (GRCm39)	missense	possibly damaging	0.81
R0076:Scn7a	UTSW	2	66,544,381 (GRCm39)	missense	probably benign	0.04
R0230:Scn7a	UTSW	2	66,556,628 (GRCm39)	missense	probably damaging	1.00
R0463:Scn7a	UTSW	2	66,506,084 (GRCm39)	missense	probably benign	0.05
R0846:Scn7a	UTSW	2	66,527,944 (GRCm39)	missense	possibly damaging	0.71
R1237:Scn7a	UTSW	2	66,510,639 (GRCm39)	missense	probably damaging	0.98
R1282:Scn7a	UTSW	2	66,531,193 (GRCm39)	missense	probably damaging	0.98
R1467:Scn7a	UTSW	2	66,519,902 (GRCm39)	missense	probably benign	0.01
R1467:Scn7a	UTSW	2	66,519,902 (GRCm39)	missense	probably benign	0.01
R1501:Scn7a	UTSW	2	66,530,507 (GRCm39)	missense	probably benign	0.37
R1672:Scn7a	UTSW	2	66,527,944 (GRCm39)	missense	possibly damaging	0.71
R1690:Scn7a	UTSW	2	66,506,287 (GRCm39)	missense	probably damaging	0.99
R1712:Scn7a	UTSW	2	66,535,447 (GRCm39)	missense	probably benign	0.05
R1758:Scn7a	UTSW	2	66,531,231 (GRCm39)	missense	probably damaging	0.97
R1758:Scn7a	UTSW	2	66,510,527 (GRCm39)	missense	probably benign	0.00
R1775:Scn7a	UTSW	2	66,511,299 (GRCm39)	missense	probably benign	0.02
R1848:Scn7a	UTSW	2	66,514,357 (GRCm39)	critical splice donor site	probably null
R1851:Scn7a	UTSW	2	66,510,635 (GRCm39)	missense	probably benign
R1919:Scn7a	UTSW	2	66,530,317 (GRCm39)	missense	probably damaging	1.00
R1932:Scn7a	UTSW	2	66,506,446 (GRCm39)	missense	probably damaging	1.00
R1945:Scn7a	UTSW	2	66,506,324 (GRCm39)	missense	probably damaging	1.00
R1970:Scn7a	UTSW	2	66,514,633 (GRCm39)	missense	possibly damaging	0.89
R1998:Scn7a	UTSW	2	66,513,613 (GRCm39)	missense	probably damaging	0.99
R2008:Scn7a	UTSW	2	66,518,091 (GRCm39)	missense	possibly damaging	0.82
R2038:Scn7a	UTSW	2	66,567,780 (GRCm39)	missense	probably damaging	1.00
R2113:Scn7a	UTSW	2	66,506,312 (GRCm39)	missense	probably damaging	1.00
R2128:Scn7a	UTSW	2	66,528,330 (GRCm39)	missense	probably damaging	0.99
R2163:Scn7a	UTSW	2	66,506,300 (GRCm39)	missense	probably damaging	0.97
R2421:Scn7a	UTSW	2	66,556,646 (GRCm39)	splice site	probably benign
R2446:Scn7a	UTSW	2	66,523,002 (GRCm39)	missense	probably damaging	0.98
R2922:Scn7a	UTSW	2	66,530,551 (GRCm39)	splice site	probably benign
R3015:Scn7a	UTSW	2	66,530,240 (GRCm39)	missense	probably benign	0.08
R3034:Scn7a	UTSW	2	66,513,152 (GRCm39)	missense	probably damaging	1.00
R3419:Scn7a	UTSW	2	66,531,239 (GRCm39)	frame shift	probably null
R3429:Scn7a	UTSW	2	66,531,239 (GRCm39)	frame shift	probably null
R3430:Scn7a	UTSW	2	66,531,239 (GRCm39)	frame shift	probably null
R3434:Scn7a	UTSW	2	66,505,847 (GRCm39)	missense	probably benign	0.01
R3803:Scn7a	UTSW	2	66,510,590 (GRCm39)	nonsense	probably null
R3831:Scn7a	UTSW	2	66,528,028 (GRCm39)	missense	probably damaging	0.96
R3833:Scn7a	UTSW	2	66,528,028 (GRCm39)	missense	probably damaging	0.96
R4017:Scn7a	UTSW	2	66,572,329 (GRCm39)	missense	probably damaging	1.00
R4244:Scn7a	UTSW	2	66,572,345 (GRCm39)	missense	probably benign	0.00
R4245:Scn7a	UTSW	2	66,572,345 (GRCm39)	missense	probably benign	0.00
R4276:Scn7a	UTSW	2	66,514,407 (GRCm39)	missense	probably damaging	0.97
R4307:Scn7a	UTSW	2	66,506,099 (GRCm39)	missense	possibly damaging	0.47
R4327:Scn7a	UTSW	2	66,567,815 (GRCm39)	missense	probably damaging	1.00
R4353:Scn7a	UTSW	2	66,506,780 (GRCm39)	missense	probably benign	0.00
R4721:Scn7a	UTSW	2	66,514,529 (GRCm39)	missense	probably damaging	1.00
R4722:Scn7a	UTSW	2	66,531,228 (GRCm39)	missense	possibly damaging	0.95
R4781:Scn7a	UTSW	2	66,534,104 (GRCm39)	missense	possibly damaging	0.95
R4792:Scn7a	UTSW	2	66,556,592 (GRCm39)	missense	probably damaging	1.00
R5362:Scn7a	UTSW	2	66,530,342 (GRCm39)	missense	probably damaging	1.00
R5437:Scn7a	UTSW	2	66,506,690 (GRCm39)	missense	probably damaging	1.00
R5729:Scn7a	UTSW	2	66,572,301 (GRCm39)	critical splice donor site	probably null
R5777:Scn7a	UTSW	2	66,522,913 (GRCm39)	missense	probably damaging	1.00
R5785:Scn7a	UTSW	2	66,527,912 (GRCm39)	missense	possibly damaging	0.79
R5821:Scn7a	UTSW	2	66,574,047 (GRCm39)	missense	probably damaging	0.96
R5830:Scn7a	UTSW	2	66,544,395 (GRCm39)	nonsense	probably null
R5877:Scn7a	UTSW	2	66,530,217 (GRCm39)	nonsense	probably null
R5881:Scn7a	UTSW	2	66,505,870 (GRCm39)	missense	probably benign	0.01
R5967:Scn7a	UTSW	2	66,506,057 (GRCm39)	missense	probably damaging	1.00
R5988:Scn7a	UTSW	2	66,556,558 (GRCm39)	nonsense	probably null
R6077:Scn7a	UTSW	2	66,527,940 (GRCm39)	missense	probably damaging	1.00
R6135:Scn7a	UTSW	2	66,534,244 (GRCm39)	missense	probably benign
R6242:Scn7a	UTSW	2	66,531,110 (GRCm39)	missense	probably benign	0.00
R6264:Scn7a	UTSW	2	66,505,870 (GRCm39)	missense	possibly damaging	0.93
R6291:Scn7a	UTSW	2	66,530,458 (GRCm39)	missense	probably damaging	0.98
R6544:Scn7a	UTSW	2	66,514,444 (GRCm39)	missense	probably damaging	1.00
R6770:Scn7a	UTSW	2	66,559,528 (GRCm39)	splice site	probably null
R6997:Scn7a	UTSW	2	66,534,147 (GRCm39)	missense	probably damaging	1.00
R7014:Scn7a	UTSW	2	66,572,303 (GRCm39)	missense	probably null	1.00
R7126:Scn7a	UTSW	2	66,587,630 (GRCm39)	missense	possibly damaging	0.80
R7129:Scn7a	UTSW	2	66,530,537 (GRCm39)	missense	probably benign	0.14
R7176:Scn7a	UTSW	2	66,506,632 (GRCm39)	missense	probably damaging	1.00
R7185:Scn7a	UTSW	2	66,518,139 (GRCm39)	missense	possibly damaging	0.81
R7276:Scn7a	UTSW	2	66,587,506 (GRCm39)	missense	probably damaging	1.00
R7332:Scn7a	UTSW	2	66,522,898 (GRCm39)	nonsense	probably null
R7421:Scn7a	UTSW	2	66,505,876 (GRCm39)	missense	probably benign	0.07
R7488:Scn7a	UTSW	2	66,587,574 (GRCm39)	missense	probably benign	0.16
R7636:Scn7a	UTSW	2	66,574,172 (GRCm39)	missense	possibly damaging	0.67
R7685:Scn7a	UTSW	2	66,506,536 (GRCm39)	missense	probably damaging	1.00
R7711:Scn7a	UTSW	2	66,531,221 (GRCm39)	missense	probably damaging	1.00
R7813:Scn7a	UTSW	2	66,506,689 (GRCm39)	missense	probably damaging	1.00
R7833:Scn7a	UTSW	2	66,506,494 (GRCm39)	missense	probably damaging	1.00
R7914:Scn7a	UTSW	2	66,530,294 (GRCm39)	missense	probably damaging	0.97
R7953:Scn7a	UTSW	2	66,587,670 (GRCm39)	missense	possibly damaging	0.90
R7970:Scn7a	UTSW	2	66,506,173 (GRCm39)	missense	probably damaging	1.00
R8061:Scn7a	UTSW	2	66,522,938 (GRCm39)	missense	probably damaging	1.00
R8121:Scn7a	UTSW	2	66,531,203 (GRCm39)	missense	probably damaging	1.00
R8172:Scn7a	UTSW	2	66,506,191 (GRCm39)	missense	possibly damaging	0.90
R8209:Scn7a	UTSW	2	66,531,204 (GRCm39)	missense	possibly damaging	0.88
R8226:Scn7a	UTSW	2	66,531,204 (GRCm39)	missense	possibly damaging	0.88
R8288:Scn7a	UTSW	2	66,506,318 (GRCm39)	missense	probably damaging	1.00
R8431:Scn7a	UTSW	2	66,534,164 (GRCm39)	missense	possibly damaging	0.62
R8678:Scn7a	UTSW	2	66,574,041 (GRCm39)	splice site	probably benign
R8745:Scn7a	UTSW	2	66,510,526 (GRCm39)	missense	probably benign
R8781:Scn7a	UTSW	2	66,567,775 (GRCm39)	missense	probably benign	0.03
R8848:Scn7a	UTSW	2	66,530,393 (GRCm39)	nonsense	probably null
R8878:Scn7a	UTSW	2	66,506,199 (GRCm39)	missense	probably damaging	1.00
R8943:Scn7a	UTSW	2	66,525,206 (GRCm39)	synonymous	silent
R9147:Scn7a	UTSW	2	66,514,507 (GRCm39)	missense	possibly damaging	0.89
R9148:Scn7a	UTSW	2	66,514,507 (GRCm39)	missense	possibly damaging	0.89
R9402:Scn7a	UTSW	2	66,510,456 (GRCm39)	missense	probably damaging	1.00
R9501:Scn7a	UTSW	2	66,582,579 (GRCm39)	missense	probably benign	0.00
R9546:Scn7a	UTSW	2	66,582,603 (GRCm39)	missense	possibly damaging	0.93
R9715:Scn7a	UTSW	2	66,519,902 (GRCm39)	missense	possibly damaging	0.93
X0060:Scn7a	UTSW	2	66,520,026 (GRCm39)	missense	probably benign	0.01
X0066:Scn7a	UTSW	2	66,510,536 (GRCm39)	missense	probably benign
Z1088:Scn7a	UTSW	2	66,544,295 (GRCm39)	missense	probably damaging	0.98
Z1177:Scn7a	UTSW	2	66,582,613 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTTCAGTTTTGCATTCTCCCAC -3'
(R):5'- CTGTTGAGTTAGTTCCACTTACTTG -3'

Sequencing Primer
(F):5'- CCCACGGCATTGATTCATTGAATAAC -3'
(R):5'- CATGATAAATGACTCAATGTGT -3'

Posted On

2021-10-11