Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Scn7a'

17281

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

038363-MU

Accession Numbers

Essential gene?

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

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66714037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 370 (V370A)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably benign
Transcript: ENSMUST00000042792
AA Change: V370A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: V370A

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

0.3059

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

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
Abca15	T	G	7: 120,373,685 (GRCm38)		probably benign	Het
Acp3	A	G	9: 104,324,218 (GRCm38)		probably benign	Het
Ada	T	A	2: 163,727,603 (GRCm38)		probably benign	Het
Ankrd17	T	A	5: 90,244,406 (GRCm38)	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746 (GRCm38)	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597 (GRCm38)	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274 (GRCm38)		probably benign	Het
Cd19	T	C	7: 126,410,862 (GRCm38)	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136 (GRCm38)	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840 (GRCm38)		probably benign	Het
Cerkl	A	T	2: 79,343,289 (GRCm38)	S259T	possibly damaging	Het
Cfap91	G	A	16: 38,302,684 (GRCm38)	Q661*	probably null	Het
Cog8	T	C	8: 107,054,133 (GRCm38)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713 (GRCm38)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497 (GRCm38)		probably null	Het
Dcc	G	A	18: 71,321,046 (GRCm38)	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486 (GRCm38)		probably benign	Het
Dus1l	A	T	11: 120,792,808 (GRCm38)		probably benign	Het
Dvl2	G	A	11: 70,008,100 (GRCm38)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753 (GRCm38)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226 (GRCm38)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655 (GRCm38)		probably benign	Het
Fyb2	A	G	4: 104,945,464 (GRCm38)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636 (GRCm38)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132 (GRCm38)		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455 (GRCm38)	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705 (GRCm38)		probably benign	Het
Ifitm6	T	A	7: 141,016,007 (GRCm38)	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854 (GRCm38)	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914 (GRCm38)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909 (GRCm38)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059 (GRCm38)		probably benign	Het
Mark1-ps1	T	A	17: 53,947,877 (GRCm38)		noncoding transcript	Het
Mndal	G	T	1: 173,874,447 (GRCm38)	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140 (GRCm38)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442 (GRCm38)		probably benign	Het
Mthfsd	C	A	8: 121,098,739 (GRCm38)	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336 (GRCm38)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359 (GRCm38)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518 (GRCm38)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414 (GRCm38)		probably benign	Het
Polr2b	T	A	5: 77,326,561 (GRCm38)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836 (GRCm38)	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039 (GRCm38)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm38)		probably benign	Het
Rspo1	G	A	4: 124,991,397 (GRCm38)	R22Q	probably benign	Het
Sec1	A	G	7: 45,678,891 (GRCm38)	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937 (GRCm38)		probably benign	Het
Slco2b1	A	T	7: 99,685,501 (GRCm38)	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730 (GRCm38)	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722 (GRCm38)	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023 (GRCm38)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683 (GRCm38)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217 (GRCm38)		probably null	Het
Vmn2r84	A	G	10: 130,394,193 (GRCm38)	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694 (GRCm38)		probably benign	Het
Zfp532	T	A	18: 65,685,627 (GRCm38)	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209 (GRCm38)	E5K	probably benign	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
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
R5821:Scn7a	UTSW	2	66,743,703 (GRCm38)	missense	probably damaging	0.96
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

Posted On

2013-01-20