Mutagenetix > Incidental Mutation

Incidental Mutation 'R5821:Scn7a'

501596

Institutional Source

Beutler Lab

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

NaG, Nav2, Nav2.3, Nax, Scn6a

MMRRC Submission

043401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66743703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 192 (E192G)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042792
AA Change: E192G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: E192G

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

Meta Mutation Damage Score

0.5354

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,796,446 (GRCm38)	V278D	possibly damaging	Het
Acacb	A	G	5: 114,184,106 (GRCm38)	D227G	possibly damaging	Het
Akap9	A	G	5: 4,046,064 (GRCm38)	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,528,848 (GRCm38)	E564D	probably damaging	Het
Cers2	G	A	3: 95,321,697 (GRCm38)		probably benign	Het
Cfap161	A	G	7: 83,775,980 (GRCm38)	I301T	probably benign	Het
Ciita	A	T	16: 10,511,805 (GRCm38)	E648V	possibly damaging	Het
Cir1	C	T	2: 73,312,460 (GRCm38)	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,590,484 (GRCm38)	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,682 (GRCm38)	F415L	probably benign	Het
Dnah7b	A	G	1: 46,142,132 (GRCm38)	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,084,728 (GRCm38)	P809H	probably damaging	Het
Fuca1	T	A	4: 135,922,962 (GRCm38)		probably null	Het
Gm20388	A	T	8: 122,900,633 (GRCm38)	*98R	probably null	Het
Gm26796	G	A	12: 80,758,790 (GRCm38)	R237C	unknown	Het
Idua	A	G	5: 108,679,734 (GRCm38)	Y138C	probably benign	Het
Ighd	A	T	12: 113,409,633 (GRCm38)	L240H	probably benign	Het
Ing2	C	G	8: 47,668,826 (GRCm38)	C229S	probably benign	Het
Kat8	G	A	7: 127,924,816 (GRCm38)	E343K	probably damaging	Het
Kctd8	A	T	5: 69,110,485 (GRCm38)	N427K	probably benign	Het
Kif16b	T	C	2: 142,702,666 (GRCm38)	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,289,845 (GRCm38)		probably benign	Het
Krt82	T	A	15: 101,548,385 (GRCm38)	R187*	probably null	Het
Lrrk2	T	C	15: 91,709,390 (GRCm38)		probably null	Het
M1ap	T	C	6: 82,968,102 (GRCm38)	Y126H	probably benign	Het
Mmel1	A	G	4: 154,885,587 (GRCm38)	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,167,869 (GRCm38)	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,491,220 (GRCm38)	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,708,499 (GRCm38)	F95L	probably damaging	Het
Nutm2	A	G	13: 50,469,855 (GRCm38)	Y196C	probably benign	Het
Oxtr	A	G	6: 112,489,496 (GRCm38)	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,749,115 (GRCm38)		probably null	Het
Pde5a	T	C	3: 122,817,955 (GRCm38)	I514T	probably benign	Het
Pign	A	G	1: 105,589,063 (GRCm38)	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,155,736 (GRCm38)	S407G	probably benign	Het
Ppfia3	G	A	7: 45,353,616 (GRCm38)	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,212,132 (GRCm38)	E739V	probably damaging	Het
Slmap	T	C	14: 26,462,280 (GRCm38)	D316G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm38)		probably benign	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259 (GRCm38)		probably benign	Het
Tgm2	T	A	2: 158,143,054 (GRCm38)	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,792,629 (GRCm38)	S670*	probably null	Het
Tmem145	A	G	7: 25,315,521 (GRCm38)	D523G	probably benign	Het
Trove2	A	G	1: 143,766,765 (GRCm38)	V209A	probably benign	Het
Vmn2r115	G	A	17: 23,347,963 (GRCm38)	G483E	probably damaging	Het

Other mutations in Scn7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Scn7a	APN	2	66,683,327 (GRCm38)	splice site	probably benign
IGL00432:Scn7a	APN	2	66,741,982 (GRCm38)	nonsense	probably null
IGL00720:Scn7a	APN	2	66,676,044 (GRCm38)	missense	possibly damaging	0.67
IGL00783:Scn7a	APN	2	66,692,564 (GRCm38)	missense	probably damaging	0.99
IGL00784:Scn7a	APN	2	66,692,564 (GRCm38)	missense	probably damaging	0.99
IGL00926:Scn7a	APN	2	66,684,131 (GRCm38)	missense	probably benign	0.06
IGL00963:Scn7a	APN	2	66,703,945 (GRCm38)	splice site	probably benign
IGL01099:Scn7a	APN	2	66,684,238 (GRCm38)	missense	probably damaging	1.00
IGL01326:Scn7a	APN	2	66,752,260 (GRCm38)	missense	probably benign	0.13
IGL01538:Scn7a	APN	2	66,703,852 (GRCm38)	missense	probably benign
IGL01624:Scn7a	APN	2	66,751,925 (GRCm38)	missense	probably benign	0.07
IGL01794:Scn7a	APN	2	66,675,509 (GRCm38)	missense	probably benign
IGL02100:Scn7a	APN	2	66,675,499 (GRCm38)	makesense	probably null
IGL02326:Scn7a	APN	2	66,700,048 (GRCm38)	missense	probably benign	0.00
IGL02472:Scn7a	APN	2	66,752,314 (GRCm38)	missense	probably damaging	1.00
IGL02528:Scn7a	APN	2	66,700,175 (GRCm38)	missense	probably damaging	1.00
IGL02798:Scn7a	APN	2	66,713,875 (GRCm38)	missense	probably benign	0.00
IGL03026:Scn7a	APN	2	66,676,098 (GRCm38)	missense	probably damaging	0.99
IGL03071:Scn7a	APN	2	66,699,947 (GRCm38)	missense	possibly damaging	0.89
IGL03080:Scn7a	APN	2	66,697,816 (GRCm38)	missense	probably benign	0.01
IGL03180:Scn7a	APN	2	66,676,234 (GRCm38)	missense	possibly damaging	0.94
IGL03337:Scn7a	APN	2	66,675,960 (GRCm38)	missense	probably benign	0.00
alert	UTSW	2	66,680,246 (GRCm38)	nonsense	probably null
glimmer	UTSW	2	66,743,703 (GRCm38)	missense	probably damaging	0.96
Uptick	UTSW	2	66,700,049 (GRCm38)	nonsense	probably null
PIT4514001:Scn7a	UTSW	2	66,684,179 (GRCm38)	missense	probably damaging	1.00
R0004:Scn7a	UTSW	2	66,687,795 (GRCm38)	missense	possibly damaging	0.81
R0076:Scn7a	UTSW	2	66,714,037 (GRCm38)	missense	probably benign	0.04
R0230:Scn7a	UTSW	2	66,726,284 (GRCm38)	missense	probably damaging	1.00
R0463:Scn7a	UTSW	2	66,675,740 (GRCm38)	missense	probably benign	0.05
R0846:Scn7a	UTSW	2	66,697,600 (GRCm38)	missense	possibly damaging	0.71
R1237:Scn7a	UTSW	2	66,680,295 (GRCm38)	missense	probably damaging	0.98
R1282:Scn7a	UTSW	2	66,700,849 (GRCm38)	missense	probably damaging	0.98
R1467:Scn7a	UTSW	2	66,689,558 (GRCm38)	missense	probably benign	0.01
R1467:Scn7a	UTSW	2	66,689,558 (GRCm38)	missense	probably benign	0.01
R1501:Scn7a	UTSW	2	66,700,163 (GRCm38)	missense	probably benign	0.37
R1672:Scn7a	UTSW	2	66,697,600 (GRCm38)	missense	possibly damaging	0.71
R1690:Scn7a	UTSW	2	66,675,943 (GRCm38)	missense	probably damaging	0.99
R1712:Scn7a	UTSW	2	66,705,103 (GRCm38)	missense	probably benign	0.05
R1758:Scn7a	UTSW	2	66,700,887 (GRCm38)	missense	probably damaging	0.97
R1758:Scn7a	UTSW	2	66,680,183 (GRCm38)	missense	probably benign	0.00
R1775:Scn7a	UTSW	2	66,680,955 (GRCm38)	missense	probably benign	0.02
R1848:Scn7a	UTSW	2	66,684,013 (GRCm38)	critical splice donor site	probably null
R1851:Scn7a	UTSW	2	66,680,291 (GRCm38)	missense	probably benign
R1919:Scn7a	UTSW	2	66,699,973 (GRCm38)	missense	probably damaging	1.00
R1932:Scn7a	UTSW	2	66,676,102 (GRCm38)	missense	probably damaging	1.00
R1945:Scn7a	UTSW	2	66,675,980 (GRCm38)	missense	probably damaging	1.00
R1970:Scn7a	UTSW	2	66,684,289 (GRCm38)	missense	possibly damaging	0.89
R1998:Scn7a	UTSW	2	66,683,269 (GRCm38)	missense	probably damaging	0.99
R2008:Scn7a	UTSW	2	66,687,747 (GRCm38)	missense	possibly damaging	0.82
R2038:Scn7a	UTSW	2	66,737,436 (GRCm38)	missense	probably damaging	1.00
R2113:Scn7a	UTSW	2	66,675,968 (GRCm38)	missense	probably damaging	1.00
R2128:Scn7a	UTSW	2	66,697,986 (GRCm38)	missense	probably damaging	0.99
R2163:Scn7a	UTSW	2	66,675,956 (GRCm38)	missense	probably damaging	0.97
R2421:Scn7a	UTSW	2	66,726,302 (GRCm38)	splice site	probably benign
R2446:Scn7a	UTSW	2	66,692,658 (GRCm38)	missense	probably damaging	0.98
R2922:Scn7a	UTSW	2	66,700,207 (GRCm38)	splice site	probably benign
R3015:Scn7a	UTSW	2	66,699,896 (GRCm38)	missense	probably benign	0.08
R3034:Scn7a	UTSW	2	66,682,808 (GRCm38)	missense	probably damaging	1.00
R3419:Scn7a	UTSW	2	66,700,895 (GRCm38)	frame shift	probably null
R3429:Scn7a	UTSW	2	66,700,895 (GRCm38)	frame shift	probably null
R3430:Scn7a	UTSW	2	66,700,895 (GRCm38)	frame shift	probably null
R3434:Scn7a	UTSW	2	66,675,503 (GRCm38)	missense	probably benign	0.01
R3803:Scn7a	UTSW	2	66,680,246 (GRCm38)	nonsense	probably null
R3831:Scn7a	UTSW	2	66,697,684 (GRCm38)	missense	probably damaging	0.96
R3833:Scn7a	UTSW	2	66,697,684 (GRCm38)	missense	probably damaging	0.96
R4017:Scn7a	UTSW	2	66,741,985 (GRCm38)	missense	probably damaging	1.00
R4244:Scn7a	UTSW	2	66,742,001 (GRCm38)	missense	probably benign	0.00
R4245:Scn7a	UTSW	2	66,742,001 (GRCm38)	missense	probably benign	0.00
R4276:Scn7a	UTSW	2	66,684,063 (GRCm38)	missense	probably damaging	0.97
R4307:Scn7a	UTSW	2	66,675,755 (GRCm38)	missense	possibly damaging	0.47
R4327:Scn7a	UTSW	2	66,737,471 (GRCm38)	missense	probably damaging	1.00
R4353:Scn7a	UTSW	2	66,676,436 (GRCm38)	missense	probably benign	0.00
R4721:Scn7a	UTSW	2	66,684,185 (GRCm38)	missense	probably damaging	1.00
R4722:Scn7a	UTSW	2	66,700,884 (GRCm38)	missense	possibly damaging	0.95
R4781:Scn7a	UTSW	2	66,703,760 (GRCm38)	missense	possibly damaging	0.95
R4792:Scn7a	UTSW	2	66,726,248 (GRCm38)	missense	probably damaging	1.00
R5362:Scn7a	UTSW	2	66,699,998 (GRCm38)	missense	probably damaging	1.00
R5437:Scn7a	UTSW	2	66,676,346 (GRCm38)	missense	probably damaging	1.00
R5729:Scn7a	UTSW	2	66,741,957 (GRCm38)	critical splice donor site	probably null
R5777:Scn7a	UTSW	2	66,692,569 (GRCm38)	missense	probably damaging	1.00
R5785:Scn7a	UTSW	2	66,697,568 (GRCm38)	missense	possibly damaging	0.79
R5830:Scn7a	UTSW	2	66,714,051 (GRCm38)	nonsense	probably null
R5877:Scn7a	UTSW	2	66,699,873 (GRCm38)	nonsense	probably null
R5881:Scn7a	UTSW	2	66,675,526 (GRCm38)	missense	probably benign	0.01
R5967:Scn7a	UTSW	2	66,675,713 (GRCm38)	missense	probably damaging	1.00
R5988:Scn7a	UTSW	2	66,726,214 (GRCm38)	nonsense	probably null
R6077:Scn7a	UTSW	2	66,697,596 (GRCm38)	missense	probably damaging	1.00
R6135:Scn7a	UTSW	2	66,703,900 (GRCm38)	missense	probably benign
R6242:Scn7a	UTSW	2	66,700,766 (GRCm38)	missense	probably benign	0.00
R6264:Scn7a	UTSW	2	66,675,526 (GRCm38)	missense	possibly damaging	0.93
R6291:Scn7a	UTSW	2	66,700,114 (GRCm38)	missense	probably damaging	0.98
R6544:Scn7a	UTSW	2	66,684,100 (GRCm38)	missense	probably damaging	1.00
R6770:Scn7a	UTSW	2	66,729,184 (GRCm38)	splice site	probably null
R6997:Scn7a	UTSW	2	66,703,803 (GRCm38)	missense	probably damaging	1.00
R7014:Scn7a	UTSW	2	66,741,959 (GRCm38)	missense	probably null	1.00
R7126:Scn7a	UTSW	2	66,757,286 (GRCm38)	missense	possibly damaging	0.80
R7129:Scn7a	UTSW	2	66,700,193 (GRCm38)	missense	probably benign	0.14
R7176:Scn7a	UTSW	2	66,676,288 (GRCm38)	missense	probably damaging	1.00
R7185:Scn7a	UTSW	2	66,687,795 (GRCm38)	missense	possibly damaging	0.81
R7276:Scn7a	UTSW	2	66,757,162 (GRCm38)	missense	probably damaging	1.00
R7332:Scn7a	UTSW	2	66,692,554 (GRCm38)	nonsense	probably null
R7421:Scn7a	UTSW	2	66,675,532 (GRCm38)	missense	probably benign	0.07
R7488:Scn7a	UTSW	2	66,757,230 (GRCm38)	missense	probably benign	0.16
R7636:Scn7a	UTSW	2	66,743,828 (GRCm38)	missense	possibly damaging	0.67
R7685:Scn7a	UTSW	2	66,676,192 (GRCm38)	missense	probably damaging	1.00
R7711:Scn7a	UTSW	2	66,700,877 (GRCm38)	missense	probably damaging	1.00
R7813:Scn7a	UTSW	2	66,676,345 (GRCm38)	missense	probably damaging	1.00
R7833:Scn7a	UTSW	2	66,676,150 (GRCm38)	missense	probably damaging	1.00
R7914:Scn7a	UTSW	2	66,699,950 (GRCm38)	missense	probably damaging	0.97
R7953:Scn7a	UTSW	2	66,757,326 (GRCm38)	missense	possibly damaging	0.90
R7970:Scn7a	UTSW	2	66,675,829 (GRCm38)	missense	probably damaging	1.00
R8061:Scn7a	UTSW	2	66,692,594 (GRCm38)	missense	probably damaging	1.00
R8121:Scn7a	UTSW	2	66,700,859 (GRCm38)	missense	probably damaging	1.00
R8172:Scn7a	UTSW	2	66,675,847 (GRCm38)	missense	possibly damaging	0.90
R8209:Scn7a	UTSW	2	66,700,860 (GRCm38)	missense	possibly damaging	0.88
R8226:Scn7a	UTSW	2	66,700,860 (GRCm38)	missense	possibly damaging	0.88
R8288:Scn7a	UTSW	2	66,675,974 (GRCm38)	missense	probably damaging	1.00
R8431:Scn7a	UTSW	2	66,703,820 (GRCm38)	missense	possibly damaging	0.62
R8678:Scn7a	UTSW	2	66,743,697 (GRCm38)	splice site	probably benign
R8745:Scn7a	UTSW	2	66,680,182 (GRCm38)	missense	probably benign
R8781:Scn7a	UTSW	2	66,737,431 (GRCm38)	missense	probably benign	0.03
R8848:Scn7a	UTSW	2	66,700,049 (GRCm38)	nonsense	probably null
R8878:Scn7a	UTSW	2	66,675,855 (GRCm38)	missense	probably damaging	1.00
R8943:Scn7a	UTSW	2	66,694,862 (GRCm38)	synonymous	silent
R8991:Scn7a	UTSW	2	66,684,244 (GRCm38)	missense	possibly damaging	0.65
R9147:Scn7a	UTSW	2	66,684,163 (GRCm38)	missense	possibly damaging	0.89
R9148:Scn7a	UTSW	2	66,684,163 (GRCm38)	missense	possibly damaging	0.89
R9402:Scn7a	UTSW	2	66,680,112 (GRCm38)	missense	probably damaging	1.00
R9501:Scn7a	UTSW	2	66,752,235 (GRCm38)	missense	probably benign	0.00
R9546:Scn7a	UTSW	2	66,752,259 (GRCm38)	missense	possibly damaging	0.93
R9715:Scn7a	UTSW	2	66,689,558 (GRCm38)	missense	possibly damaging	0.93
X0060:Scn7a	UTSW	2	66,689,682 (GRCm38)	missense	probably benign	0.01
X0066:Scn7a	UTSW	2	66,680,192 (GRCm38)	missense	probably benign
Z1088:Scn7a	UTSW	2	66,713,951 (GRCm38)	missense	probably damaging	0.98
Z1177:Scn7a	UTSW	2	66,752,269 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGGATACCTCCCCTAAC -3'
(R):5'- GTAGATTGTTTCCATCCCACCAAAC -3'

Sequencing Primer
(F):5'- AAGTTCATTCTGTACTCAGCAAC -3'
(R):5'- GGCAGGTTCATTTTCCTTC -3'

Posted On

2017-12-01