Mutagenetix > Incidental Mutations

Incidental Mutation 'R1851:Scn7a'

208055

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

039875-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1851 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66680291 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1256 (I1256V)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042792
AA Change: I1256V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: I1256V

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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,533,686	E225G	possibly damaging	Het
Abcb7	T	C	X: 104,305,399	M153V	probably benign	Het
Abi1	A	T	2: 22,950,264	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,849,395	H160Y	probably benign	Het
Acox3	A	T	5: 35,609,062	D624V	possibly damaging	Het
Adam6b	A	G	12: 113,491,822	D753G	probably benign	Het
Ago1	C	A	4: 126,439,995	R771L	probably benign	Het
Aktip	A	G	8: 91,125,877	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,415,850	H676Q	probably benign	Het
Arl1	G	C	10: 88,733,546		probably benign	Het
Asxl3	T	A	18: 22,517,739	D928E	probably damaging	Het
AW209491	T	C	13: 14,636,733	V57A	possibly damaging	Het
B3galt4	G	T	17: 33,950,911	Q118K	probably benign	Het
Ccdc187	A	T	2: 26,276,068	M783K	probably benign	Het
Cdon	T	G	9: 35,483,158	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,714,910	W67*	probably null	Het
Chd5	A	G	4: 152,378,270	S1356G	probably damaging	Het
Chil3	C	T	3: 106,148,801		probably null	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cntn1	C	T	15: 92,305,140	R768C	probably damaging	Het
Col6a3	T	A	1: 90,807,534	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 116,478,061	L223*	probably null	Het
Cpz	C	A	5: 35,502,558	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,159,279	I311V	probably benign	Het
Cym	T	A	3: 107,218,714	I78F	probably benign	Het
Defb8	A	T	8: 19,445,883	S54T	probably benign	Het
Dennd4a	A	G	9: 64,862,030	T433A	probably damaging	Het
Dhx29	A	G	13: 112,948,281	T678A	probably damaging	Het
Dspp	T	C	5: 104,174,085		probably null	Het
Enkur	G	T	2: 21,189,177	A195E	probably benign	Het
Ero1lb	T	A	13: 12,604,403	S429T	possibly damaging	Het
Fh1	A	G	1: 175,607,886	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,479	G553V	probably damaging	Het
Fmo1	A	T	1: 162,829,985	L529*	probably null	Het
Frem1	C	A	4: 82,950,500	V1415F	probably damaging	Het
Gatb	T	G	3: 85,618,877	L354R	probably damaging	Het
Gdpgp1	A	T	7: 80,238,601	N127Y	probably damaging	Het
Gm11492	T	A	11: 87,568,915	D496E	probably damaging	Het
Gm13084	T	C	4: 143,812,826	I32M	probably benign	Het
Gm13212	T	G	4: 145,624,250		probably benign	Het
Gpat2	A	G	2: 127,434,819	T648A	possibly damaging	Het
Grk6	C	T	13: 55,451,778	R225*	probably null	Het
Hells	A	T	19: 38,959,676	Q682L	probably null	Het
Hspa5	T	A	2: 34,774,678	N381K	possibly damaging	Het
Ighmbp2	T	C	19: 3,262,075	N893S	probably benign	Het
Ipo11	A	T	13: 106,812,257	V914E	possibly damaging	Het
Lars	T	C	18: 42,212,608	N1001S	probably benign	Het
Lats2	A	G	14: 57,697,455	L606P	probably damaging	Het
Map4k1	T	C	7: 28,999,784	Y521H	probably benign	Het
March11	T	A	15: 26,387,830	V257E	probably damaging	Het
Med23	G	A	10: 24,910,870		probably null	Het
Meltf	A	G	16: 31,896,577	D696G	probably benign	Het
Ms4a7	T	A	19: 11,324,424	M212L	probably benign	Het
Mx1	A	T	16: 97,448,203	L608Q	probably damaging	Het
Myh1	T	C	11: 67,204,398	Y195H	probably damaging	Het
Napb	G	T	2: 148,706,989	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,182,616	I134L	possibly damaging	Het
Nup210	A	G	6: 91,016,054	L1017P	probably damaging	Het
Nup85	T	A	11: 115,581,817	I233N	probably damaging	Het
Obsl1	A	G	1: 75,492,893	V965A	probably damaging	Het
Olfr1259	A	C	2: 89,943,814	Y100*	probably null	Het
Olfr1310	T	C	2: 112,008,691	D165G	probably benign	Het
Olfr787	T	C	10: 129,463,501	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,011,232	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,117,142	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,342,578	T256S	possibly damaging	Het
Phrf1	T	C	7: 141,240,918	F153L	probably damaging	Het
Pigw	A	T	11: 84,878,048	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,200,875	S222P	probably damaging	Het
Pjvk	A	G	2: 76,657,431		probably null	Het
Plxnd1	C	T	6: 115,963,914	V1355M	probably damaging	Het
Prss22	G	A	17: 23,996,314	P163S	probably damaging	Het
Prune2	A	G	19: 17,199,139	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,642,811	D362E	probably benign	Het
Retreg2	A	G	1: 75,146,675	K416E	probably benign	Het
Sema4d	A	G	13: 51,711,222	V362A	possibly damaging	Het
Slc25a34	G	A	4: 141,622,268	T192I	probably benign	Het
Tacc3	G	T	5: 33,668,200	V425L	probably benign	Het
Tfdp2	A	T	9: 96,297,709	K125I	probably damaging	Het
Tjp2	C	T	19: 24,099,535	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,248,445	S30*	probably null	Het
Tmem74	A	T	15: 43,867,163	D161E	probably benign	Het
Tmprss9	G	A	10: 80,892,285	V570M	probably damaging	Het
Tnk2	C	A	16: 32,679,462	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,051,772	V610G	probably damaging	Het
Trim37	T	C	11: 87,218,306	F953S	probably damaging	Het
U2surp	T	A	9: 95,482,097	K589*	probably null	Het
Usp2	G	A	9: 44,075,966	R187H	probably benign	Het
Vmn2r1	C	T	3: 64,101,505	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,227,151	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,349,714	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,760,354	L27*	probably null	Het
Zfp2	T	C	11: 50,901,088	K43E	probably benign	Het
Zfp654	A	G	16: 64,785,128	Y904H	probably benign	Het

Other mutations in Scn7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Scn7a	APN	2	66683327	splice site	probably benign
IGL00432:Scn7a	APN	2	66741982	nonsense	probably null
IGL00720:Scn7a	APN	2	66676044	missense	possibly damaging	0.67
IGL00783:Scn7a	APN	2	66692564	missense	probably damaging	0.99
IGL00784:Scn7a	APN	2	66692564	missense	probably damaging	0.99
IGL00926:Scn7a	APN	2	66684131	missense	probably benign	0.06
IGL00963:Scn7a	APN	2	66703945	splice site	probably benign
IGL01099:Scn7a	APN	2	66684238	missense	probably damaging	1.00
IGL01326:Scn7a	APN	2	66752260	missense	probably benign	0.13
IGL01538:Scn7a	APN	2	66703852	missense	probably benign
IGL01624:Scn7a	APN	2	66751925	missense	probably benign	0.07
IGL01794:Scn7a	APN	2	66675509	missense	probably benign
IGL02100:Scn7a	APN	2	66675499	makesense	probably null
IGL02326:Scn7a	APN	2	66700048	missense	probably benign	0.00
IGL02472:Scn7a	APN	2	66752314	missense	probably damaging	1.00
IGL02528:Scn7a	APN	2	66700175	missense	probably damaging	1.00
IGL02798:Scn7a	APN	2	66713875	missense	probably benign	0.00
IGL03026:Scn7a	APN	2	66676098	missense	probably damaging	0.99
IGL03071:Scn7a	APN	2	66699947	missense	possibly damaging	0.89
IGL03080:Scn7a	APN	2	66697816	missense	probably benign	0.01
IGL03180:Scn7a	APN	2	66676234	missense	possibly damaging	0.94
IGL03337:Scn7a	APN	2	66675960	missense	probably benign	0.00
PIT4514001:Scn7a	UTSW	2	66684179	missense	probably damaging	1.00
R0004:Scn7a	UTSW	2	66687795	missense	possibly damaging	0.81
R0076:Scn7a	UTSW	2	66714037	missense	probably benign	0.04
R0230:Scn7a	UTSW	2	66726284	missense	probably damaging	1.00
R0463:Scn7a	UTSW	2	66675740	missense	probably benign	0.05
R0846:Scn7a	UTSW	2	66697600	missense	possibly damaging	0.71
R1237:Scn7a	UTSW	2	66680295	missense	probably damaging	0.98
R1282:Scn7a	UTSW	2	66700849	missense	probably damaging	0.98
R1467:Scn7a	UTSW	2	66689558	missense	probably benign	0.01
R1467:Scn7a	UTSW	2	66689558	missense	probably benign	0.01
R1501:Scn7a	UTSW	2	66700163	missense	probably benign	0.37
R1672:Scn7a	UTSW	2	66697600	missense	possibly damaging	0.71
R1690:Scn7a	UTSW	2	66675943	missense	probably damaging	0.99
R1712:Scn7a	UTSW	2	66705103	missense	probably benign	0.05
R1758:Scn7a	UTSW	2	66680183	missense	probably benign	0.00
R1758:Scn7a	UTSW	2	66700887	missense	probably damaging	0.97
R1775:Scn7a	UTSW	2	66680955	missense	probably benign	0.02
R1848:Scn7a	UTSW	2	66684013	critical splice donor site	probably null
R1919:Scn7a	UTSW	2	66699973	missense	probably damaging	1.00
R1932:Scn7a	UTSW	2	66676102	missense	probably damaging	1.00
R1945:Scn7a	UTSW	2	66675980	missense	probably damaging	1.00
R1970:Scn7a	UTSW	2	66684289	missense	possibly damaging	0.89
R1998:Scn7a	UTSW	2	66683269	missense	probably damaging	0.99
R2008:Scn7a	UTSW	2	66687747	missense	possibly damaging	0.82
R2038:Scn7a	UTSW	2	66737436	missense	probably damaging	1.00
R2113:Scn7a	UTSW	2	66675968	missense	probably damaging	1.00
R2128:Scn7a	UTSW	2	66697986	missense	probably damaging	0.99
R2163:Scn7a	UTSW	2	66675956	missense	probably damaging	0.97
R2421:Scn7a	UTSW	2	66726302	splice site	probably benign
R2446:Scn7a	UTSW	2	66692658	missense	probably damaging	0.98
R2922:Scn7a	UTSW	2	66700207	splice site	probably benign
R3015:Scn7a	UTSW	2	66699896	missense	probably benign	0.08
R3034:Scn7a	UTSW	2	66682808	missense	probably damaging	1.00
R3419:Scn7a	UTSW	2	66700895	frame shift	probably null
R3429:Scn7a	UTSW	2	66700895	frame shift	probably null
R3430:Scn7a	UTSW	2	66700895	frame shift	probably null
R3434:Scn7a	UTSW	2	66675503	missense	probably benign	0.01
R3803:Scn7a	UTSW	2	66680246	nonsense	probably null
R3831:Scn7a	UTSW	2	66697684	missense	probably damaging	0.96
R3833:Scn7a	UTSW	2	66697684	missense	probably damaging	0.96
R4017:Scn7a	UTSW	2	66741985	missense	probably damaging	1.00
R4244:Scn7a	UTSW	2	66742001	missense	probably benign	0.00
R4245:Scn7a	UTSW	2	66742001	missense	probably benign	0.00
R4276:Scn7a	UTSW	2	66684063	missense	probably damaging	0.97
R4307:Scn7a	UTSW	2	66675755	missense	possibly damaging	0.47
R4327:Scn7a	UTSW	2	66737471	missense	probably damaging	1.00
R4353:Scn7a	UTSW	2	66676436	missense	probably benign	0.00
R4721:Scn7a	UTSW	2	66684185	missense	probably damaging	1.00
R4722:Scn7a	UTSW	2	66700884	missense	possibly damaging	0.95
R4781:Scn7a	UTSW	2	66703760	missense	possibly damaging	0.95
R4792:Scn7a	UTSW	2	66726248	missense	probably damaging	1.00
R5362:Scn7a	UTSW	2	66699998	missense	probably damaging	1.00
R5437:Scn7a	UTSW	2	66676346	missense	probably damaging	1.00
R5729:Scn7a	UTSW	2	66741957	critical splice donor site	probably null
R5777:Scn7a	UTSW	2	66692569	missense	probably damaging	1.00
R5785:Scn7a	UTSW	2	66697568	missense	possibly damaging	0.79
R5821:Scn7a	UTSW	2	66743703	missense	probably damaging	0.96
R5830:Scn7a	UTSW	2	66714051	nonsense	probably null
R5877:Scn7a	UTSW	2	66699873	nonsense	probably null
R5881:Scn7a	UTSW	2	66675526	missense	probably benign	0.01
R5967:Scn7a	UTSW	2	66675713	missense	probably damaging	1.00
R5988:Scn7a	UTSW	2	66726214	nonsense	probably null
R6077:Scn7a	UTSW	2	66697596	missense	probably damaging	1.00
R6135:Scn7a	UTSW	2	66703900	missense	probably benign
R6242:Scn7a	UTSW	2	66700766	missense	probably benign	0.00
R6264:Scn7a	UTSW	2	66675526	missense	possibly damaging	0.93
R6291:Scn7a	UTSW	2	66700114	missense	probably damaging	0.98
R6544:Scn7a	UTSW	2	66684100	missense	probably damaging	1.00
R6770:Scn7a	UTSW	2	66729184	splice site	probably null
R6997:Scn7a	UTSW	2	66703803	missense	probably damaging	1.00
R7014:Scn7a	UTSW	2	66741959	missense	probably null	1.00
R7126:Scn7a	UTSW	2	66757286	missense	possibly damaging	0.80
R7129:Scn7a	UTSW	2	66700193	missense	probably benign	0.14
R7176:Scn7a	UTSW	2	66676288	missense	probably damaging	1.00
R7185:Scn7a	UTSW	2	66687795	missense	possibly damaging	0.81
R7276:Scn7a	UTSW	2	66757162	missense	probably damaging	1.00
R7332:Scn7a	UTSW	2	66692554	nonsense	probably null
R7421:Scn7a	UTSW	2	66675532	missense	probably benign	0.07
R7488:Scn7a	UTSW	2	66757230	missense	probably benign	0.16
R7636:Scn7a	UTSW	2	66743828	missense	possibly damaging	0.67
R7685:Scn7a	UTSW	2	66676192	missense	probably damaging	1.00
R7711:Scn7a	UTSW	2	66700877	missense	probably damaging	1.00
R7813:Scn7a	UTSW	2	66676345	missense	probably damaging	1.00
R7833:Scn7a	UTSW	2	66676150	missense	probably damaging	1.00
R7914:Scn7a	UTSW	2	66699950	missense	probably damaging	0.97
R7953:Scn7a	UTSW	2	66757326	missense	possibly damaging	0.90
R7970:Scn7a	UTSW	2	66675829	missense	probably damaging	1.00
R8061:Scn7a	UTSW	2	66692594	missense	probably damaging	1.00
R8121:Scn7a	UTSW	2	66700859	missense	probably damaging	1.00
R8172:Scn7a	UTSW	2	66675847	missense	possibly damaging	0.90
R8209:Scn7a	UTSW	2	66700860	missense	possibly damaging	0.88
R8226:Scn7a	UTSW	2	66700860	missense	possibly damaging	0.88
R8288:Scn7a	UTSW	2	66675974	missense	probably damaging	1.00
R8431:Scn7a	UTSW	2	66703820	missense	possibly damaging	0.62
X0060:Scn7a	UTSW	2	66689682	missense	probably benign	0.01
X0066:Scn7a	UTSW	2	66680192	missense	probably benign
Z1088:Scn7a	UTSW	2	66713951	missense	probably damaging	0.98
Z1177:Scn7a	UTSW	2	66752269	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCCAACCTTACCTGTAATGG -3'
(R):5'- TTGACAAAGGATTCAAGTGCTG -3'

Sequencing Primer
(F):5'- GAACATTCCATGCACTGGTG -3'
(R):5'- GACAAAGGATTCAAGTGCTGTTTTTG -3'

Posted On

2014-06-23