Mutagenetix > Incidental Mutation

Incidental Mutation 'R4106:Scn3a'

321375

Institutional Source

Beutler Lab

Gene Symbol

Scn3a

Ensembl Gene

ENSMUSG00000057182

Gene Name

sodium channel, voltage-gated, type III, alpha

Synonyms

Nav1.3, LOC381367

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65457118-65567627 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65495035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1046 (I1046T)

Ref Sequence

ENSEMBL: ENSMUSP00000097647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066432] [ENSMUST00000100069]

AlphaFold

A2ASI5

Predicted Effect

probably benign
Transcript: ENSMUST00000066432
AA Change: I1046T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: I1046T

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
Pfam:Ion_trans	127	435	5.2e-83	PFAM
low complexity region	473	498	N/A	INTRINSIC
Pfam:Na_trans_cytopl	504	626	2e-42	PFAM
Pfam:Ion_trans	710	945	1.4e-58	PFAM
Pfam:Na_trans_assoc	949	1153	2.7e-58	PFAM
Pfam:Ion_trans	1157	1430	3e-67	PFAM
Pfam:Ion_trans	1477	1734	6.3e-55	PFAM
Pfam:PKD_channel	1573	1728	8e-7	PFAM
IQ	1851	1873	5.75e-2	SMART
low complexity region	1913	1921	N/A	INTRINSIC
low complexity region	1927	1943	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100069
AA Change: I1046T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: I1046T

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
Pfam:Ion_trans	127	435	5.2e-83	PFAM
low complexity region	473	498	N/A	INTRINSIC
Pfam:Na_trans_cytopl	504	626	2e-42	PFAM
Pfam:Ion_trans	710	945	1.4e-58	PFAM
Pfam:Na_trans_assoc	949	1153	2.7e-58	PFAM
Pfam:Ion_trans	1157	1430	3e-67	PFAM
Pfam:Ion_trans	1477	1734	6.3e-55	PFAM
Pfam:PKD_channel	1573	1728	8e-7	PFAM
IQ	1851	1873	5.75e-2	SMART
low complexity region	1913	1921	N/A	INTRINSIC
low complexity region	1927	1943	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155838

Meta Mutation Damage Score

0.1969

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	G	T	5: 121,631,464	S643Y	probably damaging	Het
Acox3	T	C	5: 35,601,552	F369S	probably damaging	Het
Cacna1a	A	G	8: 84,583,695	I1461V	possibly damaging	Het
Cdc42bpb	A	C	12: 111,295,145	V107G	probably benign	Het
Cdhr4	A	G	9: 107,996,260	D397G	probably damaging	Het
Chd1l	T	C	3: 97,597,703	T183A	probably benign	Het
Cnbd2	T	C	2: 156,335,398	V92A	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyp2j7	T	C	4: 96,199,450	T408A	possibly damaging	Het
H2-T24	A	G	17: 36,017,478	S38P	possibly damaging	Het
Mapkapk3	A	G	9: 107,257,066	V333A	probably damaging	Het
Muc5ac	T	G	7: 141,802,835	V1053G	possibly damaging	Het
Myh1	T	C	11: 67,211,577	V898A	probably benign	Het
Nnt	T	C	13: 119,396,791	I113V	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1166	A	T	2: 88,124,473	C171S	possibly damaging	Het
Rpl10a	T	A	17: 28,330,959	Y205N	probably benign	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Sertad4	AGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGA	1: 192,846,742		probably benign	Het
Sipa1l2	T	C	8: 125,492,308	K97E	probably damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc22a6	A	G	19: 8,618,510	Q72R	probably benign	Het
St8sia2	A	C	7: 73,960,761	L258R	probably damaging	Het
Tas1r2	G	A	4: 139,660,052	R245H	probably benign	Het
Tcerg1l	A	G	7: 138,259,944	V352A	probably damaging	Het
Tpo	G	A	12: 30,092,586	P713L	probably damaging	Het
Tpp2	T	C	1: 44,001,457	Y293H	possibly damaging	Het
Ttn	G	C	2: 76,750,871	A23226G	probably damaging	Het
Ttn	C	T	2: 76,778,465	V15990I	probably benign	Het

Other mutations in Scn3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Scn3a	APN	2	65497392	missense	probably benign	0.05
IGL01086:Scn3a	APN	2	65470159	missense	probably benign	0.27
IGL01141:Scn3a	APN	2	65495113	missense	possibly damaging	0.73
IGL01150:Scn3a	APN	2	65497365	splice site	probably null
IGL01564:Scn3a	APN	2	65461446	missense	probably damaging	1.00
IGL01594:Scn3a	APN	2	65461431	missense	probably damaging	1.00
IGL01751:Scn3a	APN	2	65461252	missense	possibly damaging	0.87
IGL01803:Scn3a	APN	2	65521783	unclassified	probably benign
IGL01822:Scn3a	APN	2	65495264	missense	probably damaging	1.00
IGL02063:Scn3a	APN	2	65461510	missense	probably damaging	1.00
IGL02142:Scn3a	APN	2	65526621	missense	possibly damaging	0.95
IGL02198:Scn3a	APN	2	65508489	missense	probably benign	0.12
IGL02501:Scn3a	APN	2	65526555	missense	possibly damaging	0.82
IGL02608:Scn3a	APN	2	65524166	nonsense	probably null
IGL02645:Scn3a	APN	2	65514527	missense	probably benign	0.12
IGL02653:Scn3a	APN	2	65461187	missense	probably damaging	1.00
IGL03077:Scn3a	APN	2	65536672	missense	probably damaging	0.99
IGL03099:Scn3a	APN	2	65536672	missense	probably damaging	0.99
IGL03299:Scn3a	APN	2	65497516	missense	probably benign	0.01
IGL03327:Scn3a	APN	2	65536672	missense	probably damaging	0.99
IGL03346:Scn3a	APN	2	65536672	missense	probably damaging	0.99
IGL03355:Scn3a	APN	2	65460568	missense	possibly damaging	0.91
curtsey	UTSW	2	65464836	missense	probably damaging	1.00
dip	UTSW	2	65524179	missense	probably benign	0.01
Regime	UTSW	2	65524850	missense	possibly damaging	0.93
Willpower	UTSW	2	65525754	missense	possibly damaging	0.92
R0019:Scn3a	UTSW	2	65461701	missense	probably damaging	1.00
R0316:Scn3a	UTSW	2	65460829	missense	probably damaging	1.00
R0374:Scn3a	UTSW	2	65508574	missense	probably damaging	0.97
R0414:Scn3a	UTSW	2	65525982	splice site	probably benign
R0609:Scn3a	UTSW	2	65536510	missense	probably damaging	0.96
R0613:Scn3a	UTSW	2	65472284	missense	possibly damaging	0.92
R0645:Scn3a	UTSW	2	65524850	missense	possibly damaging	0.93
R0665:Scn3a	UTSW	2	65484411	missense	probably null	0.00
R0667:Scn3a	UTSW	2	65484411	missense	probably null	0.00
R0710:Scn3a	UTSW	2	65469046	missense	probably damaging	0.99
R1202:Scn3a	UTSW	2	65506147	missense	probably benign	0.07
R1440:Scn3a	UTSW	2	65529441	missense	possibly damaging	0.95
R1447:Scn3a	UTSW	2	65469980	missense	probably damaging	1.00
R1564:Scn3a	UTSW	2	65514635	missense	probably damaging	0.98
R1595:Scn3a	UTSW	2	65498979	missense	probably damaging	0.99
R1775:Scn3a	UTSW	2	65472342	missense	probably damaging	1.00
R1781:Scn3a	UTSW	2	65472385	missense	probably damaging	1.00
R1822:Scn3a	UTSW	2	65484372	missense	probably damaging	1.00
R1924:Scn3a	UTSW	2	65461534	missense	probably damaging	1.00
R2061:Scn3a	UTSW	2	65461308	missense	probably damaging	1.00
R2070:Scn3a	UTSW	2	65520866	missense	possibly damaging	0.72
R2174:Scn3a	UTSW	2	65507206	missense	probably damaging	0.99
R2656:Scn3a	UTSW	2	65526518	missense	probably damaging	0.99
R2680:Scn3a	UTSW	2	65536536	missense	probably benign	0.04
R3882:Scn3a	UTSW	2	65482279	missense	probably benign	0.03
R4019:Scn3a	UTSW	2	65525951	intron	probably benign
R4108:Scn3a	UTSW	2	65495035	missense	probably benign	0.07
R4109:Scn3a	UTSW	2	65495035	missense	probably benign	0.07
R4225:Scn3a	UTSW	2	65536427	missense	probably damaging	0.99
R4419:Scn3a	UTSW	2	65466960	missense	probably damaging	1.00
R4552:Scn3a	UTSW	2	65524179	missense	probably benign	0.01
R4687:Scn3a	UTSW	2	65464730	missense	possibly damaging	0.65
R4780:Scn3a	UTSW	2	65506193	missense	probably damaging	1.00
R4820:Scn3a	UTSW	2	65461278	missense	probably damaging	1.00
R4856:Scn3a	UTSW	2	65461032	missense	probably damaging	1.00
R4886:Scn3a	UTSW	2	65461032	missense	probably damaging	1.00
R4914:Scn3a	UTSW	2	65461455	missense	probably damaging	1.00
R4915:Scn3a	UTSW	2	65461455	missense	probably damaging	1.00
R4918:Scn3a	UTSW	2	65461455	missense	probably damaging	1.00
R5088:Scn3a	UTSW	2	65472299	missense	probably damaging	1.00
R5101:Scn3a	UTSW	2	65461506	missense	probably damaging	1.00
R5128:Scn3a	UTSW	2	65508518	missense	probably benign	0.08
R5132:Scn3a	UTSW	2	65468204	missense	probably benign	0.09
R5297:Scn3a	UTSW	2	65469034	missense	possibly damaging	0.83
R5595:Scn3a	UTSW	2	65460713	missense	probably benign
R5699:Scn3a	UTSW	2	65507264	missense	possibly damaging	0.54
R5730:Scn3a	UTSW	2	65495260	missense	probably benign	0.00
R5735:Scn3a	UTSW	2	65482278	missense	probably damaging	0.98
R5735:Scn3a	UTSW	2	65484459	missense	probably benign	0.09
R5855:Scn3a	UTSW	2	65464730	missense	possibly damaging	0.65
R5888:Scn3a	UTSW	2	65497398	missense	probably benign	0.06
R5898:Scn3a	UTSW	2	65514695	missense	probably damaging	0.96
R5935:Scn3a	UTSW	2	65464836	missense	probably damaging	1.00
R5970:Scn3a	UTSW	2	65494781	intron	probably benign
R6214:Scn3a	UTSW	2	65495036	missense	probably benign	0.29
R6215:Scn3a	UTSW	2	65495036	missense	probably benign	0.29
R6235:Scn3a	UTSW	2	65461335	missense	probably damaging	0.97
R6307:Scn3a	UTSW	2	65472341	missense	probably damaging	1.00
R6355:Scn3a	UTSW	2	65461299	missense	probably damaging	0.99
R6376:Scn3a	UTSW	2	65461499	missense	possibly damaging	0.88
R6517:Scn3a	UTSW	2	65497563	missense	possibly damaging	0.73
R6775:Scn3a	UTSW	2	65521815	missense	possibly damaging	0.82
R6893:Scn3a	UTSW	2	65525754	missense	possibly damaging	0.92
R6986:Scn3a	UTSW	2	65508618	missense	probably damaging	0.97
R7065:Scn3a	UTSW	2	65464855	missense	probably benign
R7078:Scn3a	UTSW	2	65497600	missense	probably damaging	1.00
R7146:Scn3a	UTSW	2	65483142	missense	probably damaging	1.00
R7240:Scn3a	UTSW	2	65469042	missense	possibly damaging	0.77
R7294:Scn3a	UTSW	2	65472341	missense	probably damaging	1.00
R7352:Scn3a	UTSW	2	65525701	missense	possibly damaging	0.51
R7636:Scn3a	UTSW	2	65497689	missense	probably damaging	1.00
R7708:Scn3a	UTSW	2	65483168	missense	possibly damaging	0.47
R7733:Scn3a	UTSW	2	65508650	missense	probably benign	0.08
R7761:Scn3a	UTSW	2	65529454	missense	possibly damaging	0.95
R7792:Scn3a	UTSW	2	65466990	nonsense	probably null
R7828:Scn3a	UTSW	2	65508574	missense	probably damaging	0.97
R7875:Scn3a	UTSW	2	65497482	missense	probably damaging	1.00
R7884:Scn3a	UTSW	2	65536515	missense	probably damaging	0.96
R7958:Scn3a	UTSW	2	65506193	missense	probably damaging	1.00
R7965:Scn3a	UTSW	2	65506211	missense	probably damaging	1.00
R8171:Scn3a	UTSW	2	65530810	missense	possibly damaging	0.85
R8345:Scn3a	UTSW	2	65498991	missense	possibly damaging	0.86
R8356:Scn3a	UTSW	2	65460673	missense	probably benign	0.08
R8456:Scn3a	UTSW	2	65460673	missense	probably benign	0.08
R8527:Scn3a	UTSW	2	65497519	missense	probably damaging	0.99
R8688:Scn3a	UTSW	2	65525703	missense	possibly damaging	0.92
R8731:Scn3a	UTSW	2	65468163	nonsense	probably null
R8901:Scn3a	UTSW	2	65521908	missense	probably benign	0.00
R8910:Scn3a	UTSW	2	65508539	missense	probably damaging	1.00
R9011:Scn3a	UTSW	2	65521826	missense	possibly damaging	0.71
R9364:Scn3a	UTSW	2	65461252	missense	possibly damaging	0.87
R9460:Scn3a	UTSW	2	65470191	missense	probably damaging	1.00
R9496:Scn3a	UTSW	2	65482149	critical splice donor site	probably null
R9542:Scn3a	UTSW	2	65536516	missense	probably damaging	0.99
R9563:Scn3a	UTSW	2	65461251	missense	probably damaging	1.00
X0062:Scn3a	UTSW	2	65467001	missense	probably damaging	0.98
X0062:Scn3a	UTSW	2	65524847	nonsense	probably null
Z1177:Scn3a	UTSW	2	65498892	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGCCATACTGTGTAGATAATGC -3'
(R):5'- AAAATAAGATACGGGAGTGCTTCC -3'

Sequencing Primer
(F):5'- TAATGCAAAAAGTGGTGGCC -3'
(R):5'- GCCGAAAGTGATAGAAATCCAC -3'

Posted On

2015-06-12