Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03299:Scn3a'

416165

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03299

Quality Score

Status

Chromosome

Chromosomal Location

65287462-65397935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65327860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 877 (M877L)

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: M877L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: M877L

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: M877L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: M877L

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

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	A	G	X: 126,303,476 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,484,565 (GRCm39)	C1566S	probably damaging	Het
Akr1cl	A	T	1: 65,063,874 (GRCm39)	L105H	probably damaging	Het
Ano1	A	G	7: 144,207,993 (GRCm39)	F256S	probably damaging	Het
Arfip2	C	T	7: 105,287,150 (GRCm39)	R138H	probably damaging	Het
Cers6	T	A	2: 68,692,128 (GRCm39)	M50K	probably benign	Het
Dnah1	G	A	14: 31,037,079 (GRCm39)	Q256*	probably null	Het
Dync1h1	G	A	12: 110,585,644 (GRCm39)	E852K	possibly damaging	Het
Fars2	C	T	13: 36,721,384 (GRCm39)	Q443*	probably null	Het
Glb1l3	T	C	9: 26,770,748 (GRCm39)	N106S	probably damaging	Het
Haus7	T	C	X: 72,496,670 (GRCm39)		probably null	Het
Hectd1	C	T	12: 51,847,671 (GRCm39)		probably benign	Het
Hyal5	G	T	6: 24,877,881 (GRCm39)	G326C	probably damaging	Het
Ibtk	A	T	9: 85,603,189 (GRCm39)	D605E	probably benign	Het
Kif26b	T	C	1: 178,649,125 (GRCm39)	L415P	probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Muc5b	A	G	7: 141,395,117 (GRCm39)	D41G	unknown	Het
Mxra7	A	G	11: 116,695,360 (GRCm39)		probably benign	Het
Ncoa6	T	C	2: 155,249,207 (GRCm39)	T1366A	probably damaging	Het
Nmd3	C	T	3: 69,637,762 (GRCm39)		probably null	Het
Or6c206	T	C	10: 129,097,196 (GRCm39)	V122A	probably benign	Het
Pla2g4a	T	C	1: 149,727,118 (GRCm39)	N546S	probably damaging	Het
Prkcz	T	C	4: 155,371,247 (GRCm39)	T139A	possibly damaging	Het
Rarb	T	C	14: 16,434,168 (GRCm38)	K337E	probably damaging	Het
Rps6ka4	C	T	19: 6,809,615 (GRCm39)		probably benign	Het
Scamp2	A	G	9: 57,485,023 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,361,448 (GRCm39)		probably benign	Het
Slc22a29	C	T	19: 8,140,012 (GRCm39)		probably null	Het
Slc34a1	T	C	13: 24,005,094 (GRCm39)		probably null	Het
Srbd1	A	T	17: 86,428,087 (GRCm39)	I382N	possibly damaging	Het
Tm7sf2	T	C	19: 6,112,958 (GRCm39)	I387M	probably benign	Het
Wfs1	C	A	5: 37,125,731 (GRCm39)	E311*	probably null	Het
Zc3h13	G	A	14: 75,531,381 (GRCm39)	R93H	probably damaging	Het

Other mutations in Scn3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Scn3a	APN	2	65,327,736 (GRCm39)	missense	probably benign	0.05
IGL01086:Scn3a	APN	2	65,300,503 (GRCm39)	missense	probably benign	0.27
IGL01141:Scn3a	APN	2	65,325,457 (GRCm39)	missense	possibly damaging	0.73
IGL01150:Scn3a	APN	2	65,327,709 (GRCm39)	splice site	probably null
IGL01564:Scn3a	APN	2	65,291,790 (GRCm39)	missense	probably damaging	1.00
IGL01594:Scn3a	APN	2	65,291,775 (GRCm39)	missense	probably damaging	1.00
IGL01751:Scn3a	APN	2	65,291,596 (GRCm39)	missense	possibly damaging	0.87
IGL01803:Scn3a	APN	2	65,352,127 (GRCm39)	unclassified	probably benign
IGL01822:Scn3a	APN	2	65,325,608 (GRCm39)	missense	probably damaging	1.00
IGL02063:Scn3a	APN	2	65,291,854 (GRCm39)	missense	probably damaging	1.00
IGL02142:Scn3a	APN	2	65,356,965 (GRCm39)	missense	possibly damaging	0.95
IGL02198:Scn3a	APN	2	65,338,833 (GRCm39)	missense	probably benign	0.12
IGL02501:Scn3a	APN	2	65,356,899 (GRCm39)	missense	possibly damaging	0.82
IGL02608:Scn3a	APN	2	65,354,510 (GRCm39)	nonsense	probably null
IGL02645:Scn3a	APN	2	65,344,871 (GRCm39)	missense	probably benign	0.12
IGL02653:Scn3a	APN	2	65,291,531 (GRCm39)	missense	probably damaging	1.00
IGL03077:Scn3a	APN	2	65,367,016 (GRCm39)	missense	probably damaging	0.99
IGL03099:Scn3a	APN	2	65,367,016 (GRCm39)	missense	probably damaging	0.99
IGL03327:Scn3a	APN	2	65,367,016 (GRCm39)	missense	probably damaging	0.99
IGL03346:Scn3a	APN	2	65,367,016 (GRCm39)	missense	probably damaging	0.99
IGL03355:Scn3a	APN	2	65,290,912 (GRCm39)	missense	possibly damaging	0.91
curtsey	UTSW	2	65,295,180 (GRCm39)	missense	probably damaging	1.00
dip	UTSW	2	65,354,523 (GRCm39)	missense	probably benign	0.01
Regime	UTSW	2	65,355,194 (GRCm39)	missense	possibly damaging	0.93
Willpower	UTSW	2	65,356,098 (GRCm39)	missense	possibly damaging	0.92
R0019:Scn3a	UTSW	2	65,292,045 (GRCm39)	missense	probably damaging	1.00
R0316:Scn3a	UTSW	2	65,291,173 (GRCm39)	missense	probably damaging	1.00
R0374:Scn3a	UTSW	2	65,338,918 (GRCm39)	missense	probably damaging	0.97
R0414:Scn3a	UTSW	2	65,356,326 (GRCm39)	splice site	probably benign
R0609:Scn3a	UTSW	2	65,366,854 (GRCm39)	missense	probably damaging	0.96
R0613:Scn3a	UTSW	2	65,302,628 (GRCm39)	missense	possibly damaging	0.92
R0645:Scn3a	UTSW	2	65,355,194 (GRCm39)	missense	possibly damaging	0.93
R0665:Scn3a	UTSW	2	65,314,755 (GRCm39)	missense	probably null	0.00
R0667:Scn3a	UTSW	2	65,314,755 (GRCm39)	missense	probably null	0.00
R0710:Scn3a	UTSW	2	65,299,390 (GRCm39)	missense	probably damaging	0.99
R1202:Scn3a	UTSW	2	65,336,491 (GRCm39)	missense	probably benign	0.07
R1440:Scn3a	UTSW	2	65,359,785 (GRCm39)	missense	possibly damaging	0.95
R1447:Scn3a	UTSW	2	65,300,324 (GRCm39)	missense	probably damaging	1.00
R1564:Scn3a	UTSW	2	65,344,979 (GRCm39)	missense	probably damaging	0.98
R1595:Scn3a	UTSW	2	65,329,323 (GRCm39)	missense	probably damaging	0.99
R1775:Scn3a	UTSW	2	65,302,686 (GRCm39)	missense	probably damaging	1.00
R1781:Scn3a	UTSW	2	65,302,729 (GRCm39)	missense	probably damaging	1.00
R1822:Scn3a	UTSW	2	65,314,716 (GRCm39)	missense	probably damaging	1.00
R1924:Scn3a	UTSW	2	65,291,878 (GRCm39)	missense	probably damaging	1.00
R2061:Scn3a	UTSW	2	65,291,652 (GRCm39)	missense	probably damaging	1.00
R2070:Scn3a	UTSW	2	65,351,210 (GRCm39)	missense	possibly damaging	0.72
R2174:Scn3a	UTSW	2	65,337,550 (GRCm39)	missense	probably damaging	0.99
R2656:Scn3a	UTSW	2	65,356,862 (GRCm39)	missense	probably damaging	0.99
R2680:Scn3a	UTSW	2	65,366,880 (GRCm39)	missense	probably benign	0.04
R3882:Scn3a	UTSW	2	65,312,623 (GRCm39)	missense	probably benign	0.03
R4019:Scn3a	UTSW	2	65,356,295 (GRCm39)	intron	probably benign
R4106:Scn3a	UTSW	2	65,325,379 (GRCm39)	missense	probably benign	0.07
R4108:Scn3a	UTSW	2	65,325,379 (GRCm39)	missense	probably benign	0.07
R4109:Scn3a	UTSW	2	65,325,379 (GRCm39)	missense	probably benign	0.07
R4225:Scn3a	UTSW	2	65,366,771 (GRCm39)	missense	probably damaging	0.99
R4419:Scn3a	UTSW	2	65,297,304 (GRCm39)	missense	probably damaging	1.00
R4552:Scn3a	UTSW	2	65,354,523 (GRCm39)	missense	probably benign	0.01
R4687:Scn3a	UTSW	2	65,295,074 (GRCm39)	missense	possibly damaging	0.65
R4780:Scn3a	UTSW	2	65,336,537 (GRCm39)	missense	probably damaging	1.00
R4820:Scn3a	UTSW	2	65,291,622 (GRCm39)	missense	probably damaging	1.00
R4856:Scn3a	UTSW	2	65,291,376 (GRCm39)	missense	probably damaging	1.00
R4886:Scn3a	UTSW	2	65,291,376 (GRCm39)	missense	probably damaging	1.00
R4914:Scn3a	UTSW	2	65,291,799 (GRCm39)	missense	probably damaging	1.00
R4915:Scn3a	UTSW	2	65,291,799 (GRCm39)	missense	probably damaging	1.00
R4918:Scn3a	UTSW	2	65,291,799 (GRCm39)	missense	probably damaging	1.00
R5088:Scn3a	UTSW	2	65,302,643 (GRCm39)	missense	probably damaging	1.00
R5101:Scn3a	UTSW	2	65,291,850 (GRCm39)	missense	probably damaging	1.00
R5128:Scn3a	UTSW	2	65,338,862 (GRCm39)	missense	probably benign	0.08
R5132:Scn3a	UTSW	2	65,298,548 (GRCm39)	missense	probably benign	0.09
R5297:Scn3a	UTSW	2	65,299,378 (GRCm39)	missense	possibly damaging	0.83
R5595:Scn3a	UTSW	2	65,291,057 (GRCm39)	missense	probably benign
R5699:Scn3a	UTSW	2	65,337,608 (GRCm39)	missense	possibly damaging	0.54
R5730:Scn3a	UTSW	2	65,325,604 (GRCm39)	missense	probably benign	0.00
R5735:Scn3a	UTSW	2	65,314,803 (GRCm39)	missense	probably benign	0.09
R5735:Scn3a	UTSW	2	65,312,622 (GRCm39)	missense	probably damaging	0.98
R5855:Scn3a	UTSW	2	65,295,074 (GRCm39)	missense	possibly damaging	0.65
R5888:Scn3a	UTSW	2	65,327,742 (GRCm39)	missense	probably benign	0.06
R5898:Scn3a	UTSW	2	65,345,039 (GRCm39)	missense	probably damaging	0.96
R5935:Scn3a	UTSW	2	65,295,180 (GRCm39)	missense	probably damaging	1.00
R5970:Scn3a	UTSW	2	65,325,125 (GRCm39)	intron	probably benign
R6214:Scn3a	UTSW	2	65,325,380 (GRCm39)	missense	probably benign	0.29
R6215:Scn3a	UTSW	2	65,325,380 (GRCm39)	missense	probably benign	0.29
R6235:Scn3a	UTSW	2	65,291,679 (GRCm39)	missense	probably damaging	0.97
R6307:Scn3a	UTSW	2	65,302,685 (GRCm39)	missense	probably damaging	1.00
R6355:Scn3a	UTSW	2	65,291,643 (GRCm39)	missense	probably damaging	0.99
R6376:Scn3a	UTSW	2	65,291,843 (GRCm39)	missense	possibly damaging	0.88
R6517:Scn3a	UTSW	2	65,327,907 (GRCm39)	missense	possibly damaging	0.73
R6775:Scn3a	UTSW	2	65,352,159 (GRCm39)	missense	possibly damaging	0.82
R6893:Scn3a	UTSW	2	65,356,098 (GRCm39)	missense	possibly damaging	0.92
R6986:Scn3a	UTSW	2	65,338,962 (GRCm39)	missense	probably damaging	0.97
R7065:Scn3a	UTSW	2	65,295,199 (GRCm39)	missense	probably benign
R7078:Scn3a	UTSW	2	65,327,944 (GRCm39)	missense	probably damaging	1.00
R7146:Scn3a	UTSW	2	65,313,486 (GRCm39)	missense	probably damaging	1.00
R7240:Scn3a	UTSW	2	65,299,386 (GRCm39)	missense	possibly damaging	0.77
R7294:Scn3a	UTSW	2	65,302,685 (GRCm39)	missense	probably damaging	1.00
R7352:Scn3a	UTSW	2	65,356,045 (GRCm39)	missense	possibly damaging	0.51
R7636:Scn3a	UTSW	2	65,328,033 (GRCm39)	missense	probably damaging	1.00
R7708:Scn3a	UTSW	2	65,313,512 (GRCm39)	missense	possibly damaging	0.47
R7733:Scn3a	UTSW	2	65,338,994 (GRCm39)	missense	probably benign	0.08
R7761:Scn3a	UTSW	2	65,359,798 (GRCm39)	missense	possibly damaging	0.95
R7792:Scn3a	UTSW	2	65,297,334 (GRCm39)	nonsense	probably null
R7828:Scn3a	UTSW	2	65,338,918 (GRCm39)	missense	probably damaging	0.97
R7875:Scn3a	UTSW	2	65,327,826 (GRCm39)	missense	probably damaging	1.00
R7884:Scn3a	UTSW	2	65,366,859 (GRCm39)	missense	probably damaging	0.96
R7958:Scn3a	UTSW	2	65,336,537 (GRCm39)	missense	probably damaging	1.00
R7965:Scn3a	UTSW	2	65,336,555 (GRCm39)	missense	probably damaging	1.00
R8171:Scn3a	UTSW	2	65,361,154 (GRCm39)	missense	possibly damaging	0.85
R8345:Scn3a	UTSW	2	65,329,335 (GRCm39)	missense	possibly damaging	0.86
R8356:Scn3a	UTSW	2	65,291,017 (GRCm39)	missense	probably benign	0.08
R8456:Scn3a	UTSW	2	65,291,017 (GRCm39)	missense	probably benign	0.08
R8527:Scn3a	UTSW	2	65,327,863 (GRCm39)	missense	probably damaging	0.99
R8688:Scn3a	UTSW	2	65,356,047 (GRCm39)	missense	possibly damaging	0.92
R8731:Scn3a	UTSW	2	65,298,507 (GRCm39)	nonsense	probably null
R8901:Scn3a	UTSW	2	65,352,252 (GRCm39)	missense	probably benign	0.00
R8910:Scn3a	UTSW	2	65,338,883 (GRCm39)	missense	probably damaging	1.00
R9011:Scn3a	UTSW	2	65,352,170 (GRCm39)	missense	possibly damaging	0.71
R9364:Scn3a	UTSW	2	65,291,596 (GRCm39)	missense	possibly damaging	0.87
R9460:Scn3a	UTSW	2	65,300,535 (GRCm39)	missense	probably damaging	1.00
R9496:Scn3a	UTSW	2	65,312,493 (GRCm39)	critical splice donor site	probably null
R9542:Scn3a	UTSW	2	65,366,860 (GRCm39)	missense	probably damaging	0.99
R9563:Scn3a	UTSW	2	65,291,595 (GRCm39)	missense	probably damaging	1.00
X0062:Scn3a	UTSW	2	65,355,191 (GRCm39)	nonsense	probably null
X0062:Scn3a	UTSW	2	65,297,345 (GRCm39)	missense	probably damaging	0.98
Z1177:Scn3a	UTSW	2	65,329,236 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02