Mutagenetix > Incidental Mutation

Incidental Mutation 'R0412:Scn8a'

36734

Institutional Source

Beutler Lab

Gene Symbol

Scn8a

Ensembl Gene

ENSMUSG00000023033

Gene Name

sodium channel, voltage-gated, type VIII, alpha

Synonyms

mnd2, C630029C19Rik, nmf58, NMF335, mnd-2, seal, motor end-plate disease, nur14, Nav1.6, med, ataxia 3, nmf2, nmf335, NaCh6

MMRRC Submission

038614-MU

Accession Numbers

Genbank: NM_001077499, NM_011323; MGI: 103169

Is this an essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R0412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100869858-101045938 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 101008306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082209] [ENSMUST00000108908] [ENSMUST00000108909] [ENSMUST00000108910] [ENSMUST00000200963] [ENSMUST00000201518] [ENSMUST00000201549]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082209

SMART Domains

Protein: ENSMUSP00000080842
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	131	422	7.4e-82	PFAM
low complexity region	423	452	N/A	INTRINSIC
Pfam:Na_trans_cytopl	499	700	3.5e-72	PFAM
low complexity region	701	712	N/A	INTRINSIC
Pfam:Ion_trans	750	985	2.2e-57	PFAM
Pfam:Na_trans_assoc	989	1191	2e-59	PFAM
Pfam:Ion_trans	1195	1472	6.2e-69	PFAM
Pfam:Ion_trans	1519	1775	1.2e-56	PFAM
IQ	1892	1914	1.2e-4	SMART
low complexity region	1953	1972	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108908

SMART Domains

Protein: ENSMUSP00000104536
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	72	322	1.9e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC
Pfam:Ion_trans	451	640	1.1e-47	PFAM
Pfam:Na_trans_assoc	655	872	1.9e-71	PFAM
Pfam:Ion_trans	898	1127	4.4e-59	PFAM
PDB:1BYY\|A	1129	1181	7e-30	PDB
Pfam:Ion_trans	1220	1429	1.9e-51	PFAM
Pfam:PKD_channel	1281	1436	5.6e-7	PFAM
IQ	1558	1580	1.2e-4	SMART
low complexity region	1619	1638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108909

SMART Domains

Protein: ENSMUSP00000104537
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	72	322	2.2e-76	PFAM
low complexity region	335	364	N/A	INTRINSIC
Pfam:DUF3451	390	616	8.7e-70	PFAM
Pfam:Ion_trans	697	886	1.3e-47	PFAM
Pfam:Na_trans_assoc	901	1118	2.3e-71	PFAM
Pfam:Ion_trans	1144	1186	9.7e-10	PFAM
Pfam:Ion_trans	1182	1332	1.7e-31	PFAM
PDB:1BYY\|A	1334	1386	2e-29	PDB
Pfam:Ion_trans	1425	1634	2.3e-51	PFAM
Pfam:PKD_channel	1486	1641	6.6e-7	PFAM
IQ	1763	1785	1.2e-4	SMART
low complexity region	1824	1843	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108910

SMART Domains

Protein: ENSMUSP00000104538
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	160	410	2.5e-76	PFAM
low complexity region	423	452	N/A	INTRINSIC
Pfam:DUF3451	478	704	9.6e-70	PFAM
Pfam:Ion_trans	785	974	1.4e-47	PFAM
Pfam:Na_trans_assoc	989	1206	2.5e-71	PFAM
Pfam:Ion_trans	1232	1461	5.7e-59	PFAM
PDB:1BYY\|A	1463	1515	4e-29	PDB
Pfam:Ion_trans	1554	1763	2.5e-51	PFAM
Pfam:PKD_channel	1615	1770	7.1e-7	PFAM
IQ	1892	1914	1.2e-4	SMART
low complexity region	1953	1972	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200963

SMART Domains

Protein: ENSMUSP00000144371
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	131	422	4.1e-80	PFAM
low complexity region	423	452	N/A	INTRINSIC
Pfam:Na_trans_cytopl	499	700	2.5e-69	PFAM
low complexity region	701	712	N/A	INTRINSIC
Pfam:Ion_trans	750	985	1.2e-55	PFAM
Pfam:Na_trans_assoc	989	1191	9.1e-57	PFAM
Pfam:Ion_trans	1195	1274	7.6e-16	PFAM
Pfam:Ion_trans	1270	1431	2.6e-33	PFAM
Pfam:Ion_trans	1478	1734	6.5e-55	PFAM
IQ	1851	1873	6e-7	SMART
low complexity region	1912	1931	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201518

SMART Domains

Protein: ENSMUSP00000143879
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	131	422	8.8e-81	PFAM
low complexity region	423	452	N/A	INTRINSIC
Pfam:Na_trans_cytopl	499	700	6.7e-70	PFAM
low complexity region	701	712	N/A	INTRINSIC
Pfam:Ion_trans	750	804	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201549

SMART Domains

Protein: ENSMUSP00000144013
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	131	422	7.4e-82	PFAM
low complexity region	423	452	N/A	INTRINSIC
Pfam:Na_trans_cytopl	499	700	3.5e-72	PFAM
low complexity region	701	712	N/A	INTRINSIC
Pfam:Ion_trans	750	985	2.2e-57	PFAM
Pfam:Na_trans_assoc	989	1191	2e-59	PFAM
Pfam:Ion_trans	1195	1472	6.2e-69	PFAM
Pfam:Ion_trans	1519	1775	1.2e-56	PFAM
IQ	1892	1914	1.2e-4	SMART
low complexity region	1953	1972	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.2%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor. [provided by MGI curators]

Allele List at MGI

All alleles(22) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(6) Transgenic(1) Spontaneous(5) Chemically induced(8)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	G	7: 29,530,570		noncoding transcript	Het
Arap1	C	A	7: 101,390,222	A563D	probably damaging	Het
Arhgap28	G	A	17: 67,896,258	L67F	probably damaging	Het
Atp7b	G	T	8: 21,995,659		probably null	Het
Auts2	A	G	5: 131,446,831	F485L	probably benign	Het
Ccdc68	A	G	18: 69,960,439	E239G	probably damaging	Het
Cdc42bpg	T	G	19: 6,313,457	L449R	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Ddx41	G	T	13: 55,530,608	S630Y	probably damaging	Het
Dntt	T	C	19: 41,042,933	L274P	probably damaging	Het
Fhl4	G	T	10: 85,098,816	H34N	possibly damaging	Het
Filip1	A	T	9: 79,820,289	N349K	possibly damaging	Het
Gm9894	C	T	13: 67,765,026		noncoding transcript	Het
Gpr179	A	G	11: 97,338,807	S841P	probably damaging	Het
Gpr35	G	T	1: 92,982,784	V73L	probably benign	Het
Grik5	A	G	7: 25,013,674	V809A	possibly damaging	Het
H2-Bl	T	A	17: 36,081,521		probably benign	Het
Heatr5b	T	C	17: 78,820,854	T451A	probably benign	Het
Hmcn2	G	A	2: 31,388,247	V1654M	probably damaging	Het
Htra3	G	T	5: 35,671,065	A157E	probably damaging	Het
Igf2r	A	T	17: 12,683,948	V2405D	probably damaging	Het
Irs3	C	A	5: 137,643,877	R433L	probably benign	Het
Kcmf1	G	A	6: 72,848,241	Q239*	probably null	Het
Kcnk9	A	G	15: 72,513,056		probably benign	Het
Kif28	A	G	1: 179,702,526	V622A	probably benign	Het
Klrb1f	A	T	6: 129,054,331	I164F	probably benign	Het
Lama2	A	G	10: 27,190,625	S1087P	possibly damaging	Het
Mchr1	A	T	15: 81,235,747		probably benign	Het
Mcidas	A	G	13: 112,999,143	T367A	probably damaging	Het
Mphosph8	A	C	14: 56,674,413	K298Q	probably damaging	Het
Mroh2a	G	T	1: 88,235,216	Q360H	probably benign	Het
Mst1	A	C	9: 108,083,594	D461A	probably benign	Het
Nckap1l	A	T	15: 103,464,652	S311C	probably benign	Het
Olfr1036	C	T	2: 86,075,091	A117V	probably benign	Het
Olfr1233	T	A	2: 89,340,078	M75L	probably benign	Het
Olfr1385	T	A	11: 49,494,767	V78E	probably damaging	Het
Olfr251	A	C	9: 38,378,794	K298N	probably damaging	Het
Pde3a	T	G	6: 141,498,684	C1073G	probably damaging	Het
Pkhd1	T	C	1: 20,117,788	D3432G	probably damaging	Het
Ppargc1b	G	T	18: 61,315,861	P130Q	probably damaging	Het
Ppp6r1	A	G	7: 4,642,214	I228T	probably damaging	Het
Pram1	A	G	17: 33,641,506	N349S	probably benign	Het
Ranbp6	C	T	19: 29,812,083	V290I	possibly damaging	Het
Rcan3	A	T	4: 135,416,603		probably null	Het
Slc12a5	C	T	2: 164,994,062	T900M	probably benign	Het
Srsf10	A	G	4: 135,858,403	Y55C	probably damaging	Het
Syt7	G	T	19: 10,444,080	E450*	probably null	Het
Tbrg4	T	C	11: 6,623,832	K130R	probably benign	Het
Tgm7	C	A	2: 121,101,065	V206F	probably damaging	Het
Tmem131l	T	C	3: 84,031,648	D67G	probably damaging	Het
Ttc7	A	G	17: 87,330,044	K409R	probably benign	Het
Unc80	A	T	1: 66,550,937		probably benign	Het
Vmn1r171	C	T	7: 23,632,655	L102F	possibly damaging	Het
Vmn2r59	A	C	7: 42,046,492		probably benign	Het
Vsig2	A	G	9: 37,542,690	R191G	probably damaging	Het
Wdr86	T	A	5: 24,718,234	Q153H	probably benign	Het
Xxylt1	T	A	16: 31,007,798	N233I	probably damaging	Het
Zfp160	A	T	17: 21,026,877	E563V	probably damaging	Het
Zfp345	T	A	2: 150,473,403	E71D	probably benign	Het
Zfp541	A	G	7: 16,082,174	D862G	possibly damaging	Het
Zfp639	A	C	3: 32,517,110	Q47P	possibly damaging	Het

Other mutations in Scn8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Scn8a	APN	15	100955532	unclassified	probably benign
IGL00979:Scn8a	APN	15	100955406	unclassified	probably benign
IGL01339:Scn8a	APN	15	101032201	missense	probably benign
IGL01992:Scn8a	APN	15	100969057	missense	probably damaging	1.00
IGL02215:Scn8a	APN	15	101029572	splice site	probably null
IGL02311:Scn8a	APN	15	101013283	missense	probably damaging	0.97
IGL02404:Scn8a	APN	15	101039730	missense	probably damaging	1.00
IGL02652:Scn8a	APN	15	101013476	missense	probably damaging	0.98
IGL02690:Scn8a	APN	15	100970254	missense	probably damaging	1.00
IGL02704:Scn8a	APN	15	101008062	missense	possibly damaging	0.94
IGL03084:Scn8a	APN	15	101017172	missense	probably damaging	1.00
IGL03108:Scn8a	APN	15	100974615	missense	probably benign
IGL03224:Scn8a	APN	15	101035639	missense	probably damaging	1.00
dan	UTSW	15	101035624	nonsense	probably null
nymph	UTSW	15	101035646	missense	probably damaging	1.00
Tremord	UTSW	15	101013504	missense	probably damaging	1.00
3-1:Scn8a	UTSW	15	101039939	missense	probably benign	0.04
PIT4280001:Scn8a	UTSW	15	100957489	missense	probably damaging	1.00
PIT4508001:Scn8a	UTSW	15	101029692	missense	probably damaging	0.98
R0010:Scn8a	UTSW	15	101013573	missense	probably damaging	1.00
R0010:Scn8a	UTSW	15	101013573	missense	probably damaging	1.00
R0254:Scn8a	UTSW	15	101018364	missense	probably damaging	1.00
R0538:Scn8a	UTSW	15	101035624	nonsense	probably null
R0539:Scn8a	UTSW	15	101016568	missense	probably damaging	1.00
R0631:Scn8a	UTSW	15	101035537	missense	probably damaging	1.00
R0726:Scn8a	UTSW	15	100972830	missense	probably damaging	1.00
R0945:Scn8a	UTSW	15	101015787	missense	possibly damaging	0.54
R0967:Scn8a	UTSW	15	101035646	missense	probably damaging	1.00
R1164:Scn8a	UTSW	15	101040162	missense	probably benign	0.06
R1283:Scn8a	UTSW	15	100969171	missense	possibly damaging	0.82
R1368:Scn8a	UTSW	15	101035541	missense	probably damaging	1.00
R1633:Scn8a	UTSW	15	101029815	missense	probably benign	0.01
R1669:Scn8a	UTSW	15	101011120	missense	probably damaging	1.00
R1694:Scn8a	UTSW	15	100955528	nonsense	probably null
R1735:Scn8a	UTSW	15	101015861	missense	possibly damaging	0.94
R1773:Scn8a	UTSW	15	101039615	missense	probably damaging	0.97
R1940:Scn8a	UTSW	15	100970204	missense	probably benign	0.22
R1996:Scn8a	UTSW	15	101024379	missense	probably damaging	1.00
R2107:Scn8a	UTSW	15	101018363	missense	probably damaging	0.99
R2251:Scn8a	UTSW	15	101017106	missense	probably benign	0.02
R2516:Scn8a	UTSW	15	100969162	missense	probably benign	0.05
R2917:Scn8a	UTSW	15	101039732	missense	probably damaging	1.00
R3417:Scn8a	UTSW	15	100971668	splice site	probably benign
R3896:Scn8a	UTSW	15	101035498	missense	probably benign
R4024:Scn8a	UTSW	15	101039793	missense	probably damaging	1.00
R4050:Scn8a	UTSW	15	101013413	nonsense	probably null
R4193:Scn8a	UTSW	15	100971603	missense	probably damaging	1.00
R4212:Scn8a	UTSW	15	100957073	missense	possibly damaging	0.88
R4358:Scn8a	UTSW	15	100940133	missense	probably benign	0.00
R4396:Scn8a	UTSW	15	100972830	missense	probably damaging	1.00
R4428:Scn8a	UTSW	15	100983903	missense	probably damaging	1.00
R4452:Scn8a	UTSW	15	100957091	missense	possibly damaging	0.95
R4631:Scn8a	UTSW	15	101016503	nonsense	probably null
R4693:Scn8a	UTSW	15	101015691	missense	probably damaging	1.00
R4765:Scn8a	UTSW	15	101040471	missense	probably benign	0.07
R4777:Scn8a	UTSW	15	101015951	missense	probably damaging	1.00
R4949:Scn8a	UTSW	15	101029782	missense	probably damaging	1.00
R4997:Scn8a	UTSW	15	100957054	missense	probably damaging	1.00
R5246:Scn8a	UTSW	15	101011057	missense	probably damaging	1.00
R5566:Scn8a	UTSW	15	100974534	missense	probably damaging	1.00
R5875:Scn8a	UTSW	15	100972822	nonsense	probably null
R6031:Scn8a	UTSW	15	100983984	missense	probably damaging	1.00
R6031:Scn8a	UTSW	15	100983984	missense	probably damaging	1.00
R6057:Scn8a	UTSW	15	100974667	missense	possibly damaging	0.94
R6114:Scn8a	UTSW	15	101040596	missense	probably damaging	0.99
R6362:Scn8a	UTSW	15	100940115	splice site	probably null
R6535:Scn8a	UTSW	15	100959707	intron	probably benign
R6677:Scn8a	UTSW	15	100969072	missense	probably damaging	1.00
R6687:Scn8a	UTSW	15	100974627	missense	probably benign	0.12
R6701:Scn8a	UTSW	15	101040096	missense	probably damaging	1.00
R6719:Scn8a	UTSW	15	101011015	critical splice acceptor site	probably null
R6739:Scn8a	UTSW	15	101015955	missense	possibly damaging	0.82
R6769:Scn8a	UTSW	15	101035564	missense	probably benign
R6786:Scn8a	UTSW	15	101032215	missense	probably benign	0.00
R6849:Scn8a	UTSW	15	100955587	splice site	probably null
R7108:Scn8a	UTSW	15	101039778	missense	probably benign	0.01
R7215:Scn8a	UTSW	15	101029830	missense	possibly damaging	0.80
R7217:Scn8a	UTSW	15	100970227	missense	probably benign	0.00
R7219:Scn8a	UTSW	15	100969103	missense	probably damaging	1.00
R7356:Scn8a	UTSW	15	100957579	missense	probably damaging	1.00
R7479:Scn8a	UTSW	15	100955477	missense	probably damaging	0.99
R7816:Scn8a	UTSW	15	101011036	missense	possibly damaging	0.63
R7985:Scn8a	UTSW	15	101016962	splice site	probably null
R8112:Scn8a	UTSW	15	101029837	missense	probably benign	0.27
R8263:Scn8a	UTSW	15	100983855	missense	probably damaging	1.00
R8305:Scn8a	UTSW	15	101040506	missense	probably benign	0.01
R8489:Scn8a	UTSW	15	100969133	missense	probably damaging	1.00
R8983:Scn8a	UTSW	15	101002149	missense	possibly damaging	0.81
R9034:Scn8a	UTSW	15	101029761	missense	probably damaging	0.98
R9050:Scn8a	UTSW	15	101008280	missense	possibly damaging	0.80
R9240:Scn8a	UTSW	15	101017187	nonsense	probably null
R9249:Scn8a	UTSW	15	101016575	missense	probably benign	0.00
R9462:Scn8a	UTSW	15	101032278	missense
R9599:Scn8a	UTSW	15	101013291	missense	probably damaging	1.00
X0066:Scn8a	UTSW	15	101040080	missense	probably damaging	1.00
X0066:Scn8a	UTSW	15	101040081	missense	probably damaging	1.00
Z1176:Scn8a	UTSW	15	101033518	missense	probably damaging	1.00
Z1177:Scn8a	UTSW	15	101040222	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGTCTCAGAGAAAGTGCCCACC -3'
(R):5'- AACAGCTCTACGAGGCGACTTCAG -3'

Sequencing Primer
(F):5'- ATCTGGGAGTGTCACCCCTAC -3'
(R):5'- GGATGCCCTCGTCTCCAATTAA -3'

Posted On

2013-05-09