Mutagenetix > Incidental Mutation

Incidental Mutation 'R7146:Scn3a'

553756

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

045251-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65457118-65567627 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65483142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1142 (K1142N)

Ref Sequence

ENSEMBL: ENSMUSP00000065023 (fasta)

Gene Model

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

AlphaFold

A2ASI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000066432
AA Change: K1142N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: K1142N

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: K1142N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: K1142N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,255,297	I895F	probably benign	Het
Abca16	A	G	7: 120,527,751	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,615,181	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,730,242	C702W	probably damaging	Het
Adk	C	A	14: 21,326,614	P27H		Het
Ankrd13a	T	C	5: 114,775,232	S2P	probably damaging	Het
Ano1	T	C	7: 144,655,656	H269R	probably benign	Het
Aox3	T	A	1: 58,158,529		probably null	Het
Asl	G	A	5: 130,024,449		probably benign	Het
Asxl2	A	T	12: 3,457,066	D86V	probably damaging	Het
Ate1	A	T	7: 130,481,778		probably null	Het
Bach2	A	G	4: 32,562,670	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,604,883	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,721,697	Y24C	unknown	Het
Cage1	G	T	13: 38,023,049	N273K	probably benign	Het
Ccdc51	T	A	9: 109,091,780	I245N	probably damaging	Het
Cep152	T	C	2: 125,614,405	I229V	probably benign	Het
Chst4	T	A	8: 110,030,731	S167C	probably damaging	Het
Cntnap4	A	T	8: 112,810,636	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 100,050,794		probably null	Het
Cog8	G	T	8: 107,052,373	T424K	possibly damaging	Het
Cop1	T	G	1: 159,244,352		probably null	Het
Cyp2j6	A	G	4: 96,545,782	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,258,353	T131A	probably benign	Het
Dnah17	T	C	11: 118,082,110	D1999G	probably damaging	Het
Dnah8	T	C	17: 30,769,644	V3196A	possibly damaging	Het
Dnah8	A	G	17: 30,644,617	D250G	probably benign	Het
Dscam	A	T	16: 96,829,917	Y299*	probably null	Het
Ephb1	A	G	9: 101,963,958	S774P	probably damaging	Het
Fat1	G	A	8: 44,950,925	V238I	probably benign	Het
Fermt1	C	T	2: 132,934,865	M234I	probably benign	Het
Fmnl2	C	T	2: 53,068,540	S212L		Het
Frem1	T	C	4: 82,922,295	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,385,406	M449L	probably benign	Het
Gad1	T	C	2: 70,587,362	F302L	probably benign	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm11639	A	G	11: 104,967,752	N3879S	unknown	Het
Gm11639	A	C	11: 105,022,938	D4594A	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,089,482		probably benign	Het
Gnb3	C	T	6: 124,836,924		probably null	Het
Gtf3c1	A	T	7: 125,672,821	M642K	possibly damaging	Het
Hps3	A	T	3: 20,008,886	W838R	probably damaging	Het
Ide	A	T	19: 37,295,944	W527R		Het
Ighe	A	T	12: 113,272,355	I117N		Het
Ighv1-50	T	C	12: 115,119,776	E108G	probably benign	Het
Ivl	G	A	3: 92,572,231	P176S	probably damaging	Het
Lamb2	T	A	9: 108,484,084	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,533,392	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,375,994	C1053*	probably null	Het
Mcpt9	A	T	14: 56,026,988	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,388,496	N190K	probably damaging	Het
Mknk1	T	A	4: 115,864,592	V111D	probably damaging	Het
Mmp11	T	C	10: 75,928,446	T62A	probably benign	Het
Mmp1b	C	A	9: 7,385,014	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,586		probably null	Het
Muc5b	C	T	7: 141,863,967	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nphp3	A	T	9: 104,004,837	K169*	probably null	Het
Npy6r	G	T	18: 44,275,721	V70F	probably benign	Het
Nsun2	T	A	13: 69,626,553		probably null	Het
Oplah	T	A	15: 76,302,660	I652F	probably benign	Het
Pcdh18	T	C	3: 49,755,822	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,321,356	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,662,111	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068		probably null	Het
Pfkp	C	A	13: 6,602,781	V434F	probably benign	Het
Phospho1	G	A	11: 95,830,906	R134H	probably damaging	Het
Polg2	G	T	11: 106,772,746	Q374K	probably benign	Het
Ptpra	T	C	2: 130,537,651		probably null	Het
Rassf3	C	T	10: 121,416,147	E120K	probably benign	Het
Reln	A	T	5: 22,106,097	S273T	probably damaging	Het
Scarb1	C	T	5: 125,284,025	A133T	probably benign	Het
Sema3c	G	A	5: 17,694,703	V398I	probably benign	Het
Serpine1	C	A	5: 137,071,064	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,017,646	T334M	probably damaging	Het
Smg7	T	C	1: 152,861,825	N122D	probably benign	Het
Speer4b	T	C	5: 27,498,710	I144V	probably benign	Het
Spire2	T	A	8: 123,369,250	D671E	probably benign	Het
Sspo	A	T	6: 48,501,095	H5144L	probably benign	Het
Sstr2	A	T	11: 113,625,353	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,731,393	F98S	probably damaging	Het
Syde2	C	T	3: 146,007,115	Q1003*	probably null	Het
Tapbp	G	A	17: 33,925,487	A186T	possibly damaging	Het
Tcf12	T	A	9: 71,883,103		probably null	Het
Tnfrsf22	A	T	7: 143,640,819	C124S	probably damaging	Het
Txlnb	A	T	10: 17,827,798	T235S	possibly damaging	Het
Uaca	T	C	9: 60,870,413	L694P	probably damaging	Het
Unc13a	T	A	8: 71,630,553	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,003,334	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,481,496	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,448,471	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,581,612	S756P	probably benign	Het
Washc5	C	A	15: 59,352,501	E470*	probably null	Het
Xpot	A	T	10: 121,606,773	V508D	probably damaging	Het
Zfp616	A	T	11: 74,085,261	K785N	possibly damaging	Het
Zfp653	T	C	9: 22,065,899	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,593,376	S257P	probably damaging	Het
Zfp82	T	A	7: 30,056,167	T497S	probably benign	Het
Znrf4	T	G	17: 56,512,305	M1L	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
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
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'- GTTCTCAGCTCTGCATGACAC -3'
(R):5'- CCAGCTACCTATAAAATGAGCTAGAG -3'

Sequencing Primer
(F):5'- GATTTCTAAACTGAGTGGGCAC -3'
(R):5'- TACCTATAAAATGAGCTAGAGTTGGG -3'

Posted On

2019-05-15