Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00230:Scn8a'

306812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn8a

Ensembl Gene

ENSMUSG00000023033

Gene Name

sodium channel, voltage-gated, type VIII, alpha

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.790) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

100767739-100943819 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 100853413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082209] [ENSMUST00000108908] [ENSMUST00000108909] [ENSMUST00000108910] [ENSMUST00000200963] [ENSMUST00000201518] [ENSMUST00000201549] [ENSMUST00000202702]

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: ENSMUST00000201438

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202347

Predicted Effect

probably benign
Transcript: ENSMUST00000202702

SMART Domains

Protein: ENSMUSP00000143876
Gene: ENSMUSG00000023033

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	272	7.9e-75	PFAM
low complexity region	273	302	N/A	INTRINSIC
Pfam:Na_trans_cytopl	349	539	9.4e-67	PFAM

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 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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,553,160 (GRCm39)	A215V	probably damaging	Het
Cfap91	A	G	16: 38,156,704 (GRCm39)		probably null	Het
Cyp2j6	C	T	4: 96,424,283 (GRCm39)	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,243,540 (GRCm39)	D507G	probably benign	Het
Fam13b	T	C	18: 34,620,149 (GRCm39)	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,949,070 (GRCm39)		probably benign	Het
Galnt5	A	T	2: 57,888,985 (GRCm39)	Q195L	probably benign	Het
Gfm2	A	G	13: 97,291,950 (GRCm39)	T229A	probably benign	Het
Gigyf1	A	G	5: 137,521,007 (GRCm39)		probably benign	Het
Gm4353	G	T	7: 115,682,789 (GRCm39)	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,049,069 (GRCm39)	I389F	probably benign	Het
H2bc14	G	T	13: 21,906,545 (GRCm39)	R93L	possibly damaging	Het
Htt	A	G	5: 34,956,752 (GRCm39)	T194A	probably benign	Het
Ighg3	T	C	12: 113,323,457 (GRCm39)	Y273C	unknown	Het
Kdm5b	T	A	1: 134,548,693 (GRCm39)	V1066D	probably damaging	Het
Kif1a	G	T	1: 92,982,656 (GRCm39)	A707E	probably damaging	Het
Mars1	A	G	10: 127,133,875 (GRCm39)	M674T	probably benign	Het
Mas1	T	C	17: 13,060,877 (GRCm39)	D182G	probably benign	Het
Metap1d	T	A	2: 71,342,506 (GRCm39)	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Ninl	T	C	2: 150,808,161 (GRCm39)	E289G	probably damaging	Het
Pmel	G	T	10: 128,551,958 (GRCm39)	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,461,385 (GRCm39)		probably benign	Het
Septin9	T	C	11: 117,245,630 (GRCm39)		probably benign	Het
Sgpp1	G	T	12: 75,762,968 (GRCm39)	Y404*	probably null	Het
Sgsm1	T	C	5: 113,392,930 (GRCm39)	I788V	probably benign	Het
Slc13a4	A	T	6: 35,266,759 (GRCm39)	M112K	probably benign	Het
Slc22a29	T	C	19: 8,195,177 (GRCm39)	M153V	probably benign	Het
Slc9c1	T	G	16: 45,393,752 (GRCm39)	V565G	possibly damaging	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Tec	C	T	5: 72,926,111 (GRCm39)	A314T	probably damaging	Het
Tg	A	G	15: 66,699,139 (GRCm39)	I803V	probably benign	Het
Trav9-1	A	T	14: 53,725,850 (GRCm39)	I55F	probably benign	Het
Ttll12	C	A	15: 83,462,857 (GRCm39)	E536D	probably benign	Het
Ubqln1	C	A	13: 58,325,806 (GRCm39)	E152*	probably null	Het
Wwtr1	G	A	3: 57,370,912 (GRCm39)	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,928,099 (GRCm39)	F206S	probably benign	Het

Other mutations in Scn8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Scn8a	APN	15	100,853,287 (GRCm39)	unclassified	probably benign
IGL01339:Scn8a	APN	15	100,930,082 (GRCm39)	missense	probably benign
IGL01992:Scn8a	APN	15	100,866,938 (GRCm39)	missense	probably damaging	1.00
IGL02215:Scn8a	APN	15	100,927,453 (GRCm39)	splice site	probably null
IGL02311:Scn8a	APN	15	100,911,164 (GRCm39)	missense	probably damaging	0.97
IGL02404:Scn8a	APN	15	100,937,611 (GRCm39)	missense	probably damaging	1.00
IGL02652:Scn8a	APN	15	100,911,357 (GRCm39)	missense	probably damaging	0.98
IGL02690:Scn8a	APN	15	100,868,135 (GRCm39)	missense	probably damaging	1.00
IGL02704:Scn8a	APN	15	100,905,943 (GRCm39)	missense	possibly damaging	0.94
IGL03084:Scn8a	APN	15	100,915,053 (GRCm39)	missense	probably damaging	1.00
IGL03108:Scn8a	APN	15	100,872,496 (GRCm39)	missense	probably benign
IGL03224:Scn8a	APN	15	100,933,520 (GRCm39)	missense	probably damaging	1.00
dan	UTSW	15	100,933,505 (GRCm39)	nonsense	probably null
nymph	UTSW	15	100,933,527 (GRCm39)	missense	probably damaging	1.00
Tremord	UTSW	15	100,911,385 (GRCm39)	missense	probably damaging	1.00
3-1:Scn8a	UTSW	15	100,937,820 (GRCm39)	missense	probably benign	0.04
PIT4280001:Scn8a	UTSW	15	100,855,370 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Scn8a	UTSW	15	100,927,573 (GRCm39)	missense	probably damaging	0.98
R0010:Scn8a	UTSW	15	100,911,454 (GRCm39)	missense	probably damaging	1.00
R0010:Scn8a	UTSW	15	100,911,454 (GRCm39)	missense	probably damaging	1.00
R0254:Scn8a	UTSW	15	100,916,245 (GRCm39)	missense	probably damaging	1.00
R0412:Scn8a	UTSW	15	100,906,187 (GRCm39)	splice site	probably benign
R0538:Scn8a	UTSW	15	100,933,505 (GRCm39)	nonsense	probably null
R0539:Scn8a	UTSW	15	100,914,449 (GRCm39)	missense	probably damaging	1.00
R0631:Scn8a	UTSW	15	100,933,418 (GRCm39)	missense	probably damaging	1.00
R0726:Scn8a	UTSW	15	100,870,711 (GRCm39)	missense	probably damaging	1.00
R0945:Scn8a	UTSW	15	100,913,668 (GRCm39)	missense	possibly damaging	0.54
R0967:Scn8a	UTSW	15	100,933,527 (GRCm39)	missense	probably damaging	1.00
R1164:Scn8a	UTSW	15	100,938,043 (GRCm39)	missense	probably benign	0.06
R1283:Scn8a	UTSW	15	100,867,052 (GRCm39)	missense	possibly damaging	0.82
R1368:Scn8a	UTSW	15	100,933,422 (GRCm39)	missense	probably damaging	1.00
R1633:Scn8a	UTSW	15	100,927,696 (GRCm39)	missense	probably benign	0.01
R1669:Scn8a	UTSW	15	100,909,001 (GRCm39)	missense	probably damaging	1.00
R1694:Scn8a	UTSW	15	100,853,409 (GRCm39)	nonsense	probably null
R1735:Scn8a	UTSW	15	100,913,742 (GRCm39)	missense	possibly damaging	0.94
R1773:Scn8a	UTSW	15	100,937,496 (GRCm39)	missense	probably damaging	0.97
R1940:Scn8a	UTSW	15	100,868,085 (GRCm39)	missense	probably benign	0.22
R1996:Scn8a	UTSW	15	100,922,260 (GRCm39)	missense	probably damaging	1.00
R2107:Scn8a	UTSW	15	100,916,244 (GRCm39)	missense	probably damaging	0.99
R2251:Scn8a	UTSW	15	100,914,987 (GRCm39)	missense	probably benign	0.02
R2516:Scn8a	UTSW	15	100,867,043 (GRCm39)	missense	probably benign	0.05
R2917:Scn8a	UTSW	15	100,937,613 (GRCm39)	missense	probably damaging	1.00
R3417:Scn8a	UTSW	15	100,869,549 (GRCm39)	splice site	probably benign
R3896:Scn8a	UTSW	15	100,933,379 (GRCm39)	missense	probably benign
R4024:Scn8a	UTSW	15	100,937,674 (GRCm39)	missense	probably damaging	1.00
R4050:Scn8a	UTSW	15	100,911,294 (GRCm39)	nonsense	probably null
R4193:Scn8a	UTSW	15	100,869,484 (GRCm39)	missense	probably damaging	1.00
R4212:Scn8a	UTSW	15	100,854,954 (GRCm39)	missense	possibly damaging	0.88
R4358:Scn8a	UTSW	15	100,838,014 (GRCm39)	missense	probably benign	0.00
R4396:Scn8a	UTSW	15	100,870,711 (GRCm39)	missense	probably damaging	1.00
R4428:Scn8a	UTSW	15	100,881,784 (GRCm39)	missense	probably damaging	1.00
R4452:Scn8a	UTSW	15	100,854,972 (GRCm39)	missense	possibly damaging	0.95
R4631:Scn8a	UTSW	15	100,914,384 (GRCm39)	nonsense	probably null
R4693:Scn8a	UTSW	15	100,913,572 (GRCm39)	missense	probably damaging	1.00
R4765:Scn8a	UTSW	15	100,938,352 (GRCm39)	missense	probably benign	0.07
R4777:Scn8a	UTSW	15	100,913,832 (GRCm39)	missense	probably damaging	1.00
R4949:Scn8a	UTSW	15	100,927,663 (GRCm39)	missense	probably damaging	1.00
R4997:Scn8a	UTSW	15	100,854,935 (GRCm39)	missense	probably damaging	1.00
R5246:Scn8a	UTSW	15	100,908,938 (GRCm39)	missense	probably damaging	1.00
R5566:Scn8a	UTSW	15	100,872,415 (GRCm39)	missense	probably damaging	1.00
R5875:Scn8a	UTSW	15	100,870,703 (GRCm39)	nonsense	probably null
R6031:Scn8a	UTSW	15	100,881,865 (GRCm39)	missense	probably damaging	1.00
R6031:Scn8a	UTSW	15	100,881,865 (GRCm39)	missense	probably damaging	1.00
R6057:Scn8a	UTSW	15	100,872,548 (GRCm39)	missense	possibly damaging	0.94
R6114:Scn8a	UTSW	15	100,938,477 (GRCm39)	missense	probably damaging	0.99
R6362:Scn8a	UTSW	15	100,837,996 (GRCm39)	splice site	probably null
R6535:Scn8a	UTSW	15	100,857,588 (GRCm39)	intron	probably benign
R6677:Scn8a	UTSW	15	100,866,953 (GRCm39)	missense	probably damaging	1.00
R6687:Scn8a	UTSW	15	100,872,508 (GRCm39)	missense	probably benign	0.12
R6701:Scn8a	UTSW	15	100,937,977 (GRCm39)	missense	probably damaging	1.00
R6719:Scn8a	UTSW	15	100,908,896 (GRCm39)	critical splice acceptor site	probably null
R6739:Scn8a	UTSW	15	100,913,836 (GRCm39)	missense	possibly damaging	0.82
R6769:Scn8a	UTSW	15	100,933,445 (GRCm39)	missense	probably benign
R6786:Scn8a	UTSW	15	100,930,096 (GRCm39)	missense	probably benign	0.00
R6849:Scn8a	UTSW	15	100,853,468 (GRCm39)	splice site	probably null
R7108:Scn8a	UTSW	15	100,937,659 (GRCm39)	missense	probably benign	0.01
R7215:Scn8a	UTSW	15	100,927,711 (GRCm39)	missense	possibly damaging	0.80
R7217:Scn8a	UTSW	15	100,868,108 (GRCm39)	missense	probably benign	0.00
R7219:Scn8a	UTSW	15	100,866,984 (GRCm39)	missense	probably damaging	1.00
R7356:Scn8a	UTSW	15	100,855,460 (GRCm39)	missense	probably damaging	1.00
R7479:Scn8a	UTSW	15	100,853,358 (GRCm39)	missense	probably damaging	0.99
R7816:Scn8a	UTSW	15	100,908,917 (GRCm39)	missense	possibly damaging	0.63
R7985:Scn8a	UTSW	15	100,914,843 (GRCm39)	splice site	probably null
R8112:Scn8a	UTSW	15	100,927,718 (GRCm39)	missense	probably benign	0.27
R8263:Scn8a	UTSW	15	100,881,736 (GRCm39)	missense	probably damaging	1.00
R8305:Scn8a	UTSW	15	100,938,387 (GRCm39)	missense	probably benign	0.01
R8489:Scn8a	UTSW	15	100,867,014 (GRCm39)	missense	probably damaging	1.00
R8983:Scn8a	UTSW	15	100,900,030 (GRCm39)	missense	possibly damaging	0.81
R9034:Scn8a	UTSW	15	100,927,642 (GRCm39)	missense	probably damaging	0.98
R9050:Scn8a	UTSW	15	100,906,161 (GRCm39)	missense	possibly damaging	0.80
R9240:Scn8a	UTSW	15	100,915,068 (GRCm39)	nonsense	probably null
R9249:Scn8a	UTSW	15	100,914,456 (GRCm39)	missense	probably benign	0.00
R9462:Scn8a	UTSW	15	100,930,159 (GRCm39)	missense
R9599:Scn8a	UTSW	15	100,911,172 (GRCm39)	missense	probably damaging	1.00
R9609:Scn8a	UTSW	15	100,834,407 (GRCm39)	missense	possibly damaging	0.91
R9653:Scn8a	UTSW	15	100,937,947 (GRCm39)	missense	probably damaging	1.00
R9794:Scn8a	UTSW	15	100,933,332 (GRCm39)	missense	probably benign	0.00
X0066:Scn8a	UTSW	15	100,937,962 (GRCm39)	missense	probably damaging	1.00
X0066:Scn8a	UTSW	15	100,937,961 (GRCm39)	missense	probably damaging	1.00
Z1176:Scn8a	UTSW	15	100,931,399 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn8a	UTSW	15	100,938,103 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16