Mutagenetix > Incidental Mutation

Incidental Mutation 'R1672:Scn7a'

187665

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

039708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66697600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 849 (D849N)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042792
AA Change: D849N

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: D849N

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	G	A	16: 88,627,208	Q132*	probably null	Het
4930430A15Rik	T	A	2: 111,220,774	M226L	probably benign	Het
Aadacl4	T	A	4: 144,623,319	L382*	probably null	Het
Afg3l2	A	G	18: 67,407,423	I672T	probably benign	Het
Aftph	A	T	11: 20,726,762	D282E	probably benign	Het
Agpat5	A	G	8: 18,870,914	N161S	probably benign	Het
Alpk2	C	T	18: 65,280,959	E1562K	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Apobr	A	G	7: 126,587,551	R745G	probably benign	Het
Arrdc5	T	C	17: 56,300,144	T34A	possibly damaging	Het
Astl	T	C	2: 127,347,243	L163P	probably damaging	Het
Atf7ip2	A	T	16: 10,209,141	H91L	probably damaging	Het
Atp13a3	A	T	16: 30,332,274	S1073T	possibly damaging	Het
Bcl2a1a	A	T	9: 88,957,450	I134L	probably damaging	Het
Brinp1	T	C	4: 68,829,283		probably null	Het
Capn9	A	G	8: 124,613,831	N578S	probably benign	Het
Casp2	T	A	6: 42,268,908	D166E	probably damaging	Het
Ccr1l1	A	T	9: 123,977,507	I301N	probably damaging	Het
Chtop	T	A	3: 90,507,567	T15S	probably damaging	Het
Coq5	T	A	5: 115,279,916		probably null	Het
Crbn	G	A	6: 106,795,925	P34L	probably damaging	Het
Crisp1	G	T	17: 40,308,869	D59E	possibly damaging	Het
Cyp4f14	A	T	17: 32,909,236	D268E	probably benign	Het
D5Ertd579e	T	C	5: 36,613,277	D1258G	possibly damaging	Het
Dcp1b	T	C	6: 119,217,911	S531P	probably benign	Het
Defb25	T	C	2: 152,622,490	M45V	probably benign	Het
Dffa	T	C	4: 149,106,245	L77P	probably damaging	Het
Dixdc1	T	C	9: 50,689,864	Q361R	probably damaging	Het
Dnah1	A	G	14: 31,276,200	L2560P	probably damaging	Het
Fabp5	A	G	3: 10,015,541	T108A	probably benign	Het
Fam149a	T	G	8: 45,339,374		probably null	Het
Fam20c	A	G	5: 138,807,301	Y430C	probably damaging	Het
Fat1	A	G	8: 45,036,835	T3595A	probably damaging	Het
Fbp1	A	G	13: 62,867,431	Y245H	probably damaging	Het
Frem1	C	T	4: 82,998,891	R605H	probably benign	Het
Fscb	A	G	12: 64,471,518	I1058T	unknown	Het
Fyb2	A	G	4: 104,950,862	K373R	probably benign	Het
Ggta1	A	T	2: 35,402,133	Y387*	probably null	Het
Gm18856	T	C	13: 13,965,757		probably benign	Het
Gm572	T	C	4: 148,668,509	S282P	possibly damaging	Het
Gpd2	A	T	2: 57,357,700	I552F	probably damaging	Het
Grk5	T	C	19: 61,086,215		probably null	Het
Hivep1	T	C	13: 42,160,284	V2000A	probably damaging	Het
Ipo5	C	T	14: 120,933,302	L466F	probably damaging	Het
Itgb1	G	A	8: 128,732,045	S785N	probably damaging	Het
Itpr3	G	A	17: 27,089,013	R258K	probably benign	Het
Kcnk12	A	G	17: 87,746,319	V305A	probably benign	Het
Klf5	C	T	14: 99,301,550	T133I	probably damaging	Het
Lrig2	A	G	3: 104,491,812	I178T	probably damaging	Het
Lyrm4	A	T	13: 36,092,924	M30K	probably benign	Het
Mpv17	A	G	5: 31,153,719	Y7H	probably damaging	Het
Mrps22	T	C	9: 98,596,816		probably null	Het
Myof	A	T	19: 37,943,479	W967R	probably damaging	Het
Naip1	C	T	13: 100,423,149	D1116N	probably benign	Het
Olfr150	G	A	9: 39,737,196	C127Y	probably damaging	Het
Olfr393	T	C	11: 73,847,955	T57A	probably benign	Het
Olfr792	C	A	10: 129,540,692	H52N	probably benign	Het
Olfr826	T	C	10: 130,180,392	T163A	probably benign	Het
Ovol2	T	C	2: 144,305,790	Y180C	probably damaging	Het
Pacs1	T	C	19: 5,152,309	S418G	probably benign	Het
Pcdh1	T	C	18: 38,192,180	E903G	probably damaging	Het
Pcdhb15	A	T	18: 37,474,660	Y315F	probably damaging	Het
Pex1	T	C	5: 3,626,085	L891P	probably damaging	Het
Ppfia2	G	A	10: 106,830,568	M378I	possibly damaging	Het
Ppp1r9a	T	A	6: 5,143,491		probably null	Het
Prm3	T	C	16: 10,790,699	E64G	possibly damaging	Het
Prmt6	T	C	3: 110,250,571	D134G	possibly damaging	Het
Prss42	G	A	9: 110,800,928	G250D	probably damaging	Het
Pwwp2b	G	A	7: 139,254,831	V63I	probably benign	Het
Rbm17	T	C	2: 11,585,719	D375G	possibly damaging	Het
Rhbdl1	A	T	17: 25,836,409		probably null	Het
Rims2	T	A	15: 39,292,189	D128E	probably benign	Het
Rock2	A	G	12: 16,965,652	K850R	probably benign	Het
Rreb1	T	C	13: 37,930,537	I624T	probably benign	Het
Rrp36	A	T	17: 46,672,414	D91E	probably damaging	Het
Sec24a	A	T	11: 51,743,948	Y50*	probably null	Het
Sh2d4b	A	G	14: 40,892,964	M1T	probably null	Het
Slc4a7	A	G	14: 14,760,247	I561V	possibly damaging	Het
Slc7a12	T	C	3: 14,499,277	V70A	possibly damaging	Het
Slfnl1	A	T	4: 120,535,775	I355F	probably damaging	Het
Spata2	C	T	2: 167,483,519	R460H	probably damaging	Het
Stk11ip	C	T	1: 75,528,985	Q433*	probably null	Het
Susd1	T	C	4: 59,411,395	Y146C	probably damaging	Het
Susd5	A	T	9: 114,068,822	D115V	probably damaging	Het
Tas2r110	T	A	6: 132,868,066	V20E	probably damaging	Het
Tbc1d4	T	C	14: 101,475,215	Y694C	possibly damaging	Het
Tmem131	T	C	1: 36,824,759	E640G	probably damaging	Het
Togaram1	A	G	12: 65,021,568	T1782A	probably benign	Het
Trim24	T	C	6: 37,915,279	L249P	probably damaging	Het
Ttf1	T	C	2: 29,067,152	I478T	probably damaging	Het
Upf2	T	A	2: 6,040,097		probably null	Het
Urb1	A	T	16: 90,787,397	C566S	probably damaging	Het
Vmn1r191	T	C	13: 22,179,092	N164S	probably benign	Het
Vmn2r81	T	A	10: 79,268,278	V245E	probably damaging	Het
Vwce	T	A	19: 10,653,095	F506Y	possibly damaging	Het
Wnt8b	T	C	19: 44,511,276	F155L	probably damaging	Het
Xrra1	A	T	7: 99,898,440	I279F	probably benign	Het
Zfp229	T	C	17: 21,745,847	S353P	probably damaging	Het
Zfp607b	C	T	7: 27,692,523	H8Y	possibly damaging	Het
Zfp933	A	T	4: 147,826,019	H373Q	probably damaging	Het
Zfp938	A	G	10: 82,225,148	L546P	probably benign	Het
Zfp988	C	T	4: 147,331,282	R58C	probably benign	Het
Zkscan14	C	T	5: 145,201,654	V8I	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
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
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
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
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'- GGAACCCAGTAGTTAGGTAAGGTGGATT -3'
(R):5'- GTGTTCCTACAGAAGCAACAGACCAAAT -3'

Sequencing Primer
(F):5'- AAGGTGGATTTAAAATCAAATGTGC -3'
(R):5'- CAGACCAAATATGTGATCCAAGTG -3'

Posted On

2014-05-09