Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Scn3a'

54483

Institutional Source

Beutler Lab

Gene Symbol

Scn3a

Ensembl Gene

ENSMUSG00000057182

Gene Name

sodium channel, voltage-gated, type III, alpha

Synonyms

Nav1.3, LOC381367

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65457118-65567627 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65536510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 56 (E56G)

Ref Sequence

ENSEMBL: ENSMUSP00000097647 (fasta)

Gene Model

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

AlphaFold

A2ASI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000066432
AA Change: E56G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: E56G

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 damaging
Transcript: ENSMUST00000100069
AA Change: E56G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: E56G

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,811,461		probably null	Het
Abcb4	T	A	5: 8,947,376	C952S	probably damaging	Het
Adamtsl2	A	G	2: 27,089,635	D272G	probably benign	Het
Aim2	G	A	1: 173,461,964	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,914,024	R426H	probably damaging	Het
Apoc2	A	G	7: 19,673,353	S28P	probably benign	Het
Arfgef3	G	A	10: 18,597,431	T1628I	probably benign	Het
Atp10a	G	A	7: 58,819,740		probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,121,899	D226E	probably benign	Het
Brsk2	T	C	7: 141,998,492	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554	F27Y	probably damaging	Het
Casp8	T	A	1: 58,844,792	N439K	probably benign	Het
Ccdc175	T	A	12: 72,157,507	K253N	probably benign	Het
Cdc42bpa	A	G	1: 180,040,179	H193R	probably damaging	Het
Cdk17	T	C	10: 93,216,472	M105T	probably benign	Het
Cdon	C	A	9: 35,478,611	P854T	probably damaging	Het
Cep44	A	G	8: 56,544,152	M117T	possibly damaging	Het
Cep89	A	T	7: 35,435,530	E674D	probably damaging	Het
Cit	C	T	5: 115,873,943	A203V	probably damaging	Het
Clstn1	C	A	4: 149,629,300		probably null	Het
Col7a1	T	A	9: 108,958,147	D565E	unknown	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Cps1	T	G	1: 67,172,802	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,987,053	T372A	possibly damaging	Het
Dars	A	G	1: 128,405,381	V102A	probably benign	Het
Dhx35	C	T	2: 158,817,415	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,779	S2100P	probably benign	Het
Dst	T	C	1: 34,266,960		probably null	Het
Egflam	A	C	15: 7,253,523	L351R	possibly damaging	Het
Elp2	T	A	18: 24,626,156	D523E	probably benign	Het
Exo5	C	A	4: 120,921,684	G328V	probably damaging	Het
Fam208a	C	T	14: 27,461,750	T722I	probably benign	Het
Fut9	A	G	4: 25,620,811	M1T	probably null	Het
Galnt5	A	G	2: 58,024,625	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,567,772	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977	C353Y	probably damaging	Het
Gm13089	A	T	4: 143,698,503	D123E	probably benign	Het
Hace1	A	G	10: 45,648,869	T244A	probably damaging	Het
Hr	T	C	14: 70,559,657	I500T	probably benign	Het
Ifnl2	A	T	7: 28,509,282	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,389,824	F5L	probably benign	Het
Inhbb	A	G	1: 119,417,416	L381P	probably damaging	Het
Irx3	A	T	8: 91,801,093	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,360,145	T363I	probably benign	Het
Izumo1	A	T	7: 45,622,899	T35S	probably benign	Het
Kank4	A	G	4: 98,777,105	S651P	probably damaging	Het
Kit	T	C	5: 75,610,879	V232A	probably benign	Het
Klhl11	T	C	11: 100,463,714	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,689	N36K	probably damaging	Het
Lrrk1	T	C	7: 66,266,615		probably null	Het
Mamdc4	G	T	2: 25,564,193	Q1042K	probably benign	Het
Mical2	A	G	7: 112,321,440		probably null	Het
Ms4a3	C	A	19: 11,631,361	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,333,513	V427A	probably benign	Het
Myo3a	A	C	2: 22,396,299	E626D	possibly damaging	Het
Nckap5	A	T	1: 126,027,288	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,249	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,208,461	Y753H	probably damaging	Het
Nynrin	T	C	14: 55,872,761	V1775A	probably damaging	Het
Olfr141	A	G	2: 86,806,861	L46S	probably damaging	Het
Olfr292	T	C	7: 86,694,876	V140A	possibly damaging	Het
Olfr694	A	T	7: 106,688,998	H244Q	probably damaging	Het
Olfr735	T	C	14: 50,345,926	Y141C	probably damaging	Het
Olfr823	G	A	10: 130,112,580	S70F	probably damaging	Het
Oplah	A	G	15: 76,302,992	S570P	probably benign	Het
Osbpl11	C	A	16: 33,234,444	Y632*	probably null	Het
Osbpl5	A	T	7: 143,694,821	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,497,952	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,467,424	S132R	possibly damaging	Het
Ptpn13	T	A	5: 103,556,145	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,930,135	W8R	probably damaging	Het
Rgs3	T	G	4: 62,625,936	V315G	probably damaging	Het
Rora	T	A	9: 69,361,869	M82K	probably damaging	Het
Rph3al	T	C	11: 75,908,969	I55V	probably benign	Het
Sag	T	C	1: 87,812,991	V45A	probably damaging	Het
Sec24c	T	G	14: 20,686,948	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,138,979	L748S	probably damaging	Het
Stard9	A	T	2: 120,706,306	D4186V	probably damaging	Het
Stk39	T	C	2: 68,366,167	E306G	probably damaging	Het
Sycp1	C	A	3: 102,898,849		probably null	Het
Taf2	A	C	15: 55,060,050	L277R	probably damaging	Het
Tbc1d23	T	A	16: 57,173,106	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,361,304	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,060,141	H401R	probably benign	Het
Tie1	T	A	4: 118,476,147	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,728,102	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,453,507	N691S	probably benign	Het
Trim24	G	A	6: 37,957,783	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,357,976		probably benign	Het
Trpc4	T	G	3: 54,194,768	L29R	probably damaging	Het
Trpm6	A	T	19: 18,825,862	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,536	E442K	probably benign	Het
Uggt2	A	G	14: 119,095,336	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,138,884	S137R	probably benign	Het
Unc13a	A	G	8: 71,658,467	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,976,306	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,716,479	D231G	probably benign	Het
Ythdc2	A	T	18: 44,864,357	M994L	probably benign	Het
Zcchc6	A	T	13: 59,799,782	C506*	probably null	Het
Zfp804a	G	A	2: 82,257,588	S587N	probably damaging	Het
Zswim2	A	G	2: 83,923,659	I219T	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
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
R4106:Scn3a	UTSW	2	65495035	missense	probably benign	0.07
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'- AGAAGCCCCTGGTTTGCACATC -3'
(R):5'- CGGAGAAGCATCACTGTCCTTACTG -3'

Sequencing Primer
(F):5'- CCTGGTTTGCACATCTAATTGAG -3'
(R):5'- GCCAACAAATGCAGGGTTTTC -3'

Posted On

2013-07-11