Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Scn7a'

90065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

NaG, Nav2, Nav2.3, Nax, Scn6a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66703852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 493 (V493A)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably benign
Transcript: ENSMUST00000042792
AA Change: V493A

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

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: V493A

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,872,202		noncoding transcript	Het
Abca3	G	T	17: 24,376,473	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 24,918,512	N323D	possibly damaging	Het
Atp5c1	T	C	2: 10,068,666	Y32C	probably damaging	Het
Capn3	T	G	2: 120,502,186		probably null	Het
Ccdc113	C	A	8: 95,551,238	D275E	probably benign	Het
Ccdc40	T	A	11: 119,242,719	F562I	possibly damaging	Het
Cd96	T	C	16: 46,109,127	T152A	possibly damaging	Het
Cdh7	T	A	1: 110,061,140	D257E	probably damaging	Het
Cilp2	T	C	8: 69,881,204	D1048G	probably benign	Het
Clrn2	T	G	5: 45,460,066	L93R	probably damaging	Het
Crat	C	A	2: 30,409,966	G134V	probably damaging	Het
Dis3	A	T	14: 99,097,745	N140K	probably benign	Het
Dmxl2	T	A	9: 54,445,376		probably benign	Het
Dus1l	T	A	11: 120,793,079	Q181L	probably damaging	Het
Ece1	A	G	4: 137,948,544	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,048	H90L	probably damaging	Het
Gm16602	G	A	13: 19,336,570		probably benign	Het
Gm1966	T	C	7: 106,602,537	D500G	probably damaging	Het
Gpr152	T	A	19: 4,142,952	V164E	probably damaging	Het
Grik3	A	C	4: 125,694,036	I650L	possibly damaging	Het
Gzmm	A	T	10: 79,695,062	T233S	probably benign	Het
H2-Q4	T	A	17: 35,383,312	V341D	probably benign	Het
Igsf21	A	G	4: 140,027,718		probably benign	Het
Kmt2d	T	C	15: 98,860,657		probably benign	Het
Kntc1	T	G	5: 123,781,658	V864G	probably damaging	Het
Lnx1	T	C	5: 74,620,155	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,097,430	K985N	probably benign	Het
Map4k1	C	A	7: 29,001,619	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,388,974		probably null	Het
Mettl16	T	A	11: 74,792,267	Y178*	probably null	Het
Mrpl11	T	A	19: 4,963,421		probably null	Het
Nup85	T	C	11: 115,569,714	S140P	possibly damaging	Het
Olfr1140	T	C	2: 87,746,598	V134A	probably benign	Het
Olfr1301	T	A	2: 111,755,005	V252E	probably damaging	Het
Olfr301	T	C	7: 86,412,959	L199P	possibly damaging	Het
Olfr352	T	C	2: 36,870,520		probably benign	Het
Pcdhb2	T	A	18: 37,295,322	L116*	probably null	Het
Pdcd7	C	A	9: 65,346,703	R188S	probably damaging	Het
Pdk2	T	C	11: 95,027,285	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,234,021	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,876,635	Y169N	probably damaging	Het
Prcp	A	C	7: 92,910,213	T162P	probably benign	Het
Prkd1	A	G	12: 50,342,142	S873P	probably benign	Het
Ptpn2	T	C	18: 67,681,553	T129A	probably benign	Het
Rtkn	G	A	6: 83,146,061	R68H	probably damaging	Het
Sall4	C	T	2: 168,755,856	D355N	probably damaging	Het
Sema4b	G	A	7: 80,215,696	A140T	probably damaging	Het
Shisa6	C	A	11: 66,217,828	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,454,164	V197F	probably damaging	Het
Spata2	A	T	2: 167,484,151	D249E	probably damaging	Het
Stk36	T	A	1: 74,633,638	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,343,500	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,537,844	V185D	possibly damaging	Het
Tgm7	T	A	2: 121,106,915	Y76F	probably benign	Het
Tph1	T	C	7: 46,653,753	Y267C	probably damaging	Het
Ube2d1	A	G	10: 71,255,826		probably benign	Het
Vmn2r12	C	A	5: 109,091,850	R282S	probably damaging	Het
Vps4a	A	G	8: 107,036,924	D72G	probably benign	Het
Wipf2	T	A	11: 98,890,803	V56D	possibly damaging	Het
Wisp3	A	G	10: 39,158,310	Y99H	probably damaging	Het
Zfp750	C	A	11: 121,512,165	V586L	probably benign	Het
Zfp831	A	G	2: 174,644,606	E358G	possibly 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
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
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

Posted On

2013-12-03