Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Scn3a'

570612

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65457118-65567627 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65525701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 230 (I230V)

Ref Sequence

ENSEMBL: ENSMUSP00000065023 (fasta)

Gene Model

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

AlphaFold

A2ASI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066432
AA Change: I230V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: I230V

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

possibly damaging
Transcript: ENSMUST00000100069
AA Change: I230V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: I230V

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: ENSMUST00000126837

SMART Domains

Protein: ENSMUSP00000115321
Gene: ENSMUSG00000057182

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	122	6.1e-44	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	A	T	5: 94,383,884	N209I	probably damaging	Het
Abca17	C	T	17: 24,289,054	W1124*	probably null	Het
Acap3	G	A	4: 155,905,711	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,708,041	L860P	probably damaging	Het
Arap3	G	A	18: 37,973,278	T1504I	probably benign	Het
Atad5	T	C	11: 80,103,343		probably null	Het
Atp8a2	A	G	14: 59,791,204	V938A	probably benign	Het
AW551984	T	C	9: 39,592,925	M582V	probably benign	Het
Axdnd1	C	T	1: 156,382,477	V408I	possibly damaging	Het
Babam2	T	A	5: 32,007,250	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,324,626	M20V	probably benign	Het
Bex6	A	G	16: 32,186,216		probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Cad	T	A	5: 31,058,078	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,818,023	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,937,387	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,299,311	F1396I	probably damaging	Het
Cep170	A	T	1: 176,769,857	D373E	probably benign	Het
Chrna4	A	T	2: 181,037,474	I60N	probably damaging	Het
Cntn2	T	C	1: 132,522,399	T586A	probably benign	Het
Csmd2	G	T	4: 128,557,636	V3396F		Het
Cyp3a44	T	A	5: 145,803,688	L47F	probably benign	Het
D7Ertd443e	A	T	7: 134,349,394	H183Q	probably benign	Het
Ddx27	T	C	2: 167,029,513	V510A	probably benign	Het
Ddx58	T	A	4: 40,239,668	Q10L	probably benign	Het
Dgat1	G	T	15: 76,502,824	C396*	probably null	Het
Dmpk	A	G	7: 19,086,072	S83G	probably damaging	Het
Dsc2	T	G	18: 20,035,335	D689A	probably benign	Het
Eppk1	A	T	15: 76,106,418	W2088R	probably benign	Het
Exph5	A	C	9: 53,375,722	I1368L	probably benign	Het
Fadd	T	C	7: 144,580,659	K163R	probably benign	Het
Fam149a	T	A	8: 45,340,997	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,268,251	M449K	probably benign	Het
Gad1	T	C	2: 70,594,750	F463L	probably benign	Het
Gad2	T	A	2: 22,623,823	F91I	probably benign	Het
Gcc2	T	C	10: 58,280,698		probably null	Het
Gjc1	A	C	11: 102,800,452	C242G	probably damaging	Het
Gkn1	T	C	6: 87,348,118	E103G	possibly damaging	Het
Gm867	T	C	10: 75,939,836	T39A	probably benign	Het
Gpr108	A	G	17: 57,236,944	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,307,993	V508G	probably damaging	Het
Grm1	A	T	10: 10,719,493	I797N	probably damaging	Het
Ice1	G	A	13: 70,606,102	Q622*	probably null	Het
Kcnb2	T	A	1: 15,710,611	V569E	probably benign	Het
Ksr2	T	G	5: 117,689,641	I495S	probably benign	Het
Litaf	A	T	16: 10,963,353	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,111	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,472,397	S2996Y	probably benign	Het
Ltf	T	C	9: 111,028,450	S436P	probably benign	Het
Map4k4	T	A	1: 39,962,227	V58D	unknown	Het
Mapkapk3	C	A	9: 107,257,070	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,451,474	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,333,911	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,850,293	M248V	probably benign	Het
Olfr1000	T	C	2: 85,608,784	N42S	probably damaging	Het
Olfr1208	T	A	2: 88,896,718	N293I	probably damaging	Het
Olfr1238	T	C	2: 89,406,462	M206V	probably benign	Het
Olfr1239	C	A	2: 89,417,967	G149W	probably damaging	Het
Olfr1443	A	G	19: 12,680,751	I214M	possibly damaging	Het
Olfr523	A	T	7: 140,176,525	Y135F	probably damaging	Het
Olig2	A	G	16: 91,226,689	D97G	probably benign	Het
Pcdha11	T	A	18: 37,006,845	V509E	probably damaging	Het
Pglyrp3	G	A	3: 92,014,640	W5*	probably null	Het
Phf14	A	T	6: 11,961,638	N425Y	probably damaging	Het
Phf3	G	T	1: 30,804,326	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,328,812	T39A	probably damaging	Het
Plin4	A	G	17: 56,104,427	M868T	probably benign	Het
Pnma2	A	G	14: 66,916,421	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,041,832	T782I	probably damaging	Het
Prickle2	T	G	6: 92,410,890	E566D	probably benign	Het
Pvr	A	G	7: 19,910,616	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,968,358		probably benign	Het
Rapgef4	T	A	2: 72,180,091	I331N	probably damaging	Het
Reg3g	C	T	6: 78,466,859	W122*	probably null	Het
Rlbp1	A	T	7: 79,381,680	I100N	probably damaging	Het
Rnf213	T	A	11: 119,443,579	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Rtl6	G	T	15: 84,556,980	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,637,194	D408E	possibly damaging	Het
Slc23a4	A	T	6: 34,948,279	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,790,984	T392A	probably damaging	Het
Spaca7	T	A	8: 12,585,742	I86K	probably benign	Het
Syt10	G	T	15: 89,814,456	D228E	probably benign	Het
Tbx3	T	A	5: 119,677,560	N308K	probably benign	Het
Telo2	A	G	17: 25,102,069	V724A	probably damaging	Het
Tfip11	T	C	5: 112,333,268	V370A	probably benign	Het
Thbs3	A	G	3: 89,225,280	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,496,542	I148V	not run	Het
Trbv14	T	A	6: 41,135,495	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,876	V2973A	probably damaging	Het
Ttn	T	C	2: 76,794,484	D15250G	probably damaging	Het
Ubr2	G	A	17: 46,930,426	T1734I	probably benign	Het
Ush2a	G	T	1: 188,466,124	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,388,881	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,840,446	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,264,418	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,947,177	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,360,081	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,298,981	M87T	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
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
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
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'- AGGCTGGCTTTAATGAAGAAAGTTG -3'
(R):5'- GAGTCTTGCGAGCTCTGAAAAC -3'

Sequencing Primer
(F):5'- GAAATGATCAACGCTTTAAAGGAAC -3'
(R):5'- GCGAGCTCTGAAAACTATTTCTG -3'

Posted On

2019-09-13