Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02645:Scn3a'

301900

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 #

IGL02645

Quality Score

Status

Chromosome

Chromosomal Location

65287462-65397935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65344871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 539 (F539Y)

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: F539Y

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: F539Y

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: F539Y

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: F539Y

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: ENSMUST00000145994

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	T	C	14: 52,001,804 (GRCm39)	Y48C	probably damaging	Het
Aox1	T	A	1: 58,373,883 (GRCm39)	M848K	probably damaging	Het
Apol7c	A	T	15: 77,413,083 (GRCm39)	S56T	probably benign	Het
Asic4	G	A	1: 75,449,998 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,234,777 (GRCm39)	K162R	possibly damaging	Het
Car12	T	A	9: 66,654,961 (GRCm39)	H130Q	probably benign	Het
Cars1	T	C	7: 143,111,646 (GRCm39)	E737G	probably damaging	Het
Ccdc141	G	A	2: 76,905,211 (GRCm39)	R412*	probably null	Het
Cd36	T	C	5: 17,990,878 (GRCm39)	T421A	probably benign	Het
Clasp2	T	G	9: 113,719,129 (GRCm39)	M758R	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Ebf4	A	G	2: 130,203,761 (GRCm39)	K471E	probably damaging	Het
Fat2	T	A	11: 55,173,654 (GRCm39)	D2353V	probably damaging	Het
Gm10136	A	G	19: 28,981,140 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,655,702 (GRCm39)	I930V	probably benign	Het
Ndrg2	T	A	14: 52,143,979 (GRCm39)	M300L	possibly damaging	Het
Nhs	A	G	X: 160,942,054 (GRCm39)	S111P	probably benign	Het
Nme8	T	A	13: 19,844,755 (GRCm39)	L111F	probably damaging	Het
Nol8	T	A	13: 49,818,947 (GRCm39)		probably null	Het
Or10g1b	T	A	14: 52,627,958 (GRCm39)	T91S	possibly damaging	Het
Or12e13	C	T	2: 87,663,959 (GRCm39)	T192M	probably benign	Het
Or4a76	T	C	2: 89,460,679 (GRCm39)	T188A	probably benign	Het
Or4c116	T	C	2: 88,941,963 (GRCm39)	R298G	probably benign	Het
Pcdhac2	G	A	18: 37,278,292 (GRCm39)	G424D	probably damaging	Het
Pex3	T	G	10: 13,422,173 (GRCm39)	E42D	possibly damaging	Het
Plxnb1	C	T	9: 108,943,311 (GRCm39)		probably benign	Het
Rpe65	T	A	3: 159,312,128 (GRCm39)	I209N	probably damaging	Het
Rsl1	T	A	13: 67,330,273 (GRCm39)	F240L	probably benign	Het
Rttn	A	T	18: 89,128,810 (GRCm39)	I1921F	probably benign	Het
Secisbp2	T	A	13: 51,836,496 (GRCm39)	M767K	probably damaging	Het
Sipa1l3	C	T	7: 29,028,405 (GRCm39)		probably null	Het
Slfn8	T	C	11: 82,894,380 (GRCm39)	N753S	possibly damaging	Het
Spmip6	A	G	4: 41,517,080 (GRCm39)	V28A	probably damaging	Het
Sympk	T	G	7: 18,786,349 (GRCm39)	V984G	probably damaging	Het
Tacr3	A	T	3: 134,566,943 (GRCm39)	D272V	possibly damaging	Het
Timd6	A	G	11: 46,477,047 (GRCm39)	R167G	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Zfp804a	T	C	2: 81,884,220 (GRCm39)	L29P	possibly damaging	Het
Zfp94	C	T	7: 24,003,179 (GRCm39)	G88R	probably benign	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
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
IGL03299:Scn3a	APN	2	65,327,860 (GRCm39)	missense	probably benign	0.01
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

2015-04-16