Mutagenetix > Incidental Mutation

Incidental Mutation 'R3831:Scn7a'

273979

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

040777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R3831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66697684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 821 (S821P)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042792
AA Change: S821P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: S821P

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,973,708	T527A	unknown	Het
Bcat1	T	A	6: 145,010,108	D349V	probably damaging	Het
Cacna1c	A	G	6: 118,604,463	S1727P	probably benign	Het
Cacnb2	A	T	2: 14,981,425	I338F	probably damaging	Het
Cyb5d2	G	T	11: 72,795,523	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,261,506	D485G	probably benign	Het
Cyp27b1	G	T	10: 127,051,060	V382L	probably damaging	Het
Dpp9	A	T	17: 56,199,113	F429I	possibly damaging	Het
Fam92b	T	A	8: 120,174,894	Y24F	probably damaging	Het
Frmd4b	T	A	6: 97,412,525	K73*	probably null	Het
Hao1	A	T	2: 134,523,005	V234D	probably damaging	Het
Hkdc1	T	C	10: 62,400,212	Y517C	probably benign	Het
Iglv2	A	T	16: 19,260,843	M1K	probably null	Het
Inpp5j	T	C	11: 3,500,229	D228G	probably damaging	Het
Itih5	A	G	2: 10,251,270	D849G	possibly damaging	Het
Itpkb	T	C	1: 180,333,695	V462A	probably benign	Het
Kif26b	GAAA	GAA	1: 178,916,616		probably null	Het
Kremen1	G	GGGC	11: 5,201,794		probably benign	Het
Lzic	G	C	4: 149,488,728	E112D	probably null	Het
Mageh1	A	T	X: 153,037,008	W111R	probably damaging	Het
Mapk7	A	G	11: 61,489,854	S641P	possibly damaging	Het
Mapt	A	T	11: 104,287,135	Q38L	possibly damaging	Het
Med12	C	A	X: 101,295,892	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,910,367	S17P	probably damaging	Het
Melk	C	A	4: 44,345,021	Q384K	probably benign	Het
Morc2b	C	T	17: 33,137,259	S513N	probably benign	Het
Nap1l3	A	G	X: 122,396,298	V241A	possibly damaging	Het
Olfr311	T	G	11: 58,841,860	F249V	probably damaging	Het
Olfr315	T	A	11: 58,778,745		probably null	Het
Olfr684	A	G	7: 105,157,382	F100S	probably damaging	Het
Pdgfd	T	C	9: 6,359,762	S278P	probably damaging	Het
Pgc	C	A	17: 47,729,311	F93L	probably null	Het
Phf14	A	G	6: 11,933,874		probably null	Het
Pja2	T	C	17: 64,309,402	D166G	probably benign	Het
Rgs5	A	G	1: 169,676,901	Y40C	probably benign	Het
Rsad1	A	G	11: 94,543,304	V366A	probably benign	Het
S100a10	T	C	3: 93,564,373	V88A	probably damaging	Het
Scarf1	T	C	11: 75,515,252	C121R	probably damaging	Het
Sco1	T	C	11: 67,053,779	V76A	probably damaging	Het
Selp	T	A	1: 164,132,280	C368*	probably null	Het
Sema3e	T	A	5: 14,226,482	C294S	probably damaging	Het
Slit3	A	T	11: 35,688,682	S1229C	probably null	Het
Smarca5	A	T	8: 80,728,494	N199K	probably damaging	Het
Sorbs2	A	T	8: 45,795,095	D442V	probably damaging	Het
Specc1	T	A	11: 62,117,967	I183N	probably damaging	Het
Tcerg1	G	T	18: 42,568,489	R872L	probably damaging	Het
Tekt1	T	C	11: 72,354,819	N170S	probably benign	Het
Thsd1	T	G	8: 22,243,116	S60A	possibly damaging	Het
Tmem2	T	G	19: 21,847,951	S1204R	probably damaging	Het
Usp24	T	C	4: 106,362,012		probably null	Het
Usp28	A	G	9: 49,035,638	T505A	probably benign	Het
Zcchc17	T	C	4: 130,338,524	D62G	probably benign	Het
Zfp445	T	G	9: 122,852,476	E800A	probably damaging	Het
Zranb1	C	T	7: 132,982,776	A591V	probably damaging	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
alert	UTSW	2	66680246	nonsense	probably null
glimmer	UTSW	2	66743703	missense	probably damaging	0.96
Uptick	UTSW	2	66700049	nonsense	probably null
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
R1851:Scn7a	UTSW	2	66680291	missense	probably benign
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
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
R8678:Scn7a	UTSW	2	66743697	splice site	probably benign
R8745:Scn7a	UTSW	2	66680182	missense	probably benign
R8781:Scn7a	UTSW	2	66737431	missense	probably benign	0.03
R8848:Scn7a	UTSW	2	66700049	nonsense	probably null
R8878:Scn7a	UTSW	2	66675855	missense	probably damaging	1.00
R8943:Scn7a	UTSW	2	66694862	synonymous	silent
R8991:Scn7a	UTSW	2	66684244	missense	possibly damaging	0.65
R9147:Scn7a	UTSW	2	66684163	missense	possibly damaging	0.89
R9148:Scn7a	UTSW	2	66684163	missense	possibly damaging	0.89
R9402:Scn7a	UTSW	2	66680112	missense	probably damaging	1.00
R9501:Scn7a	UTSW	2	66752235	missense	probably benign	0.00
R9546:Scn7a	UTSW	2	66752259	missense	possibly damaging	0.93
R9715:Scn7a	UTSW	2	66689558	missense	possibly damaging	0.93
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'- ACCCAGTAGTTAGGTAAGGTGG -3'
(R):5'- AAGTCGGGAATAAACTCCATGC -3'

Sequencing Primer
(F):5'- GTGCAATTTAACTCTATAACATCAGC -3'
(R):5'- CCATGCTTCTTAAATTAATGTGCAC -3'

Posted On

2015-04-02