Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Scn3a'

387552

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

042677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5088 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

65287462-65397935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65302643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1268 (S1268T)

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: S1268T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: S1268T

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: S1268T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: S1268T

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

0.4378

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,883,939 (GRCm39)	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,217,038 (GRCm39)	R246G	probably benign	Het
Aak1	T	C	6: 86,921,462 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,412 (GRCm39)	L695P	probably damaging	Het
Alcam	T	A	16: 52,109,290 (GRCm39)	T328S	probably damaging	Het
Alpk1	A	G	3: 127,478,969 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,970,889 (GRCm39)	L642P	probably damaging	Het
Atrip	T	C	9: 108,888,964 (GRCm39)	D741G	probably damaging	Het
Bmp1	T	C	14: 70,723,659 (GRCm39)	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,496,337 (GRCm39)		probably null	Het
Cacng5	C	G	11: 107,768,215 (GRCm39)	C264S	possibly damaging	Het
Calr4	T	A	4: 109,101,859 (GRCm39)		probably benign	Het
Cdhr1	T	A	14: 36,811,422 (GRCm39)	T230S	probably benign	Het
Cdk16	T	C	X: 20,562,566 (GRCm39)		probably benign	Het
Cenpj	T	C	14: 56,791,148 (GRCm39)	E337G	probably damaging	Het
Chd9	A	G	8: 91,704,147 (GRCm39)	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,312,607 (GRCm39)	V360D	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cyp20a1	A	T	1: 60,402,509 (GRCm39)	H198L	probably damaging	Het
Dnai1	T	A	4: 41,597,630 (GRCm39)	S38T	probably benign	Het
Dnai1	T	G	4: 41,632,251 (GRCm39)	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357 (GRCm39)	T188K	probably damaging	Het
Ergic2	A	G	6: 148,084,621 (GRCm39)	V304A	probably damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbxo7	A	G	10: 85,857,784 (GRCm39)		probably benign	Het
Gins4	T	C	8: 23,727,084 (GRCm39)	E3G	possibly damaging	Het
Glis3	G	A	19: 28,508,979 (GRCm39)	P335L	probably benign	Het
Golph3l	A	T	3: 95,524,501 (GRCm39)	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,722,181 (GRCm39)	A445V	probably benign	Het
Hykk	A	G	9: 54,853,763 (GRCm39)	I362V	probably benign	Het
Il6st	G	A	13: 112,627,089 (GRCm39)	V294M	probably damaging	Het
Itpr1	A	G	6: 108,366,348 (GRCm39)	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,252,936 (GRCm39)	L501P	probably benign	Het
Mpi	G	A	9: 57,457,887 (GRCm39)	T105M	probably damaging	Het
Mrpl37	A	T	4: 106,921,919 (GRCm39)	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,350,056 (GRCm39)	T600S	possibly damaging	Het
Npl	A	T	1: 153,384,890 (GRCm39)	I249N	possibly damaging	Het
Or10j27	C	T	1: 172,958,606 (GRCm39)	M59I	probably damaging	Het
Or7g30	A	G	9: 19,353,067 (GRCm39)	N286S	probably damaging	Het
Pkd1	A	G	17: 24,809,812 (GRCm39)	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,080,095 (GRCm39)	N235D	probably benign	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Rcvrn	A	T	11: 67,586,340 (GRCm39)	Q33L	probably benign	Het
Rif1	A	T	2: 51,982,307 (GRCm39)	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,771,790 (GRCm39)	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,727,129 (GRCm39)	G2411*	probably null	Het
Sema6a	T	A	18: 47,382,196 (GRCm39)	I784F	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Skint7	T	C	4: 111,837,627 (GRCm39)	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,738,343 (GRCm39)	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,848,966 (GRCm39)		probably null	Het
Spata7	A	T	12: 98,635,761 (GRCm39)	D527V	probably benign	Het
Srcap	A	G	7: 127,140,833 (GRCm39)	T1477A	probably benign	Het
Srl	C	A	16: 4,300,633 (GRCm39)	D375Y	probably damaging	Het
Stk4	A	T	2: 163,925,608 (GRCm39)	K58*	probably null	Het
Svep1	T	G	4: 58,120,648 (GRCm39)	H795P	possibly damaging	Het
Trak2	T	A	1: 58,974,967 (GRCm39)	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,933,904 (GRCm39)	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,283,473 (GRCm39)	L52*	probably null	Het
Vmn2r108	A	T	17: 20,690,454 (GRCm39)	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,168,601 (GRCm39)	D55G	possibly damaging	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Zfp13	C	A	17: 23,796,035 (GRCm39)	E179*	probably null	Het
Zfp839	T	C	12: 110,834,610 (GRCm39)	S546P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTCAACAGTCATTCCAAAG -3'
(R):5'- TTGCCAGTACATGCTGTGCC -3'

Sequencing Primer
(F):5'- GTGTGTGTAAAACCCTTTCTCAATC -3'
(R):5'- ACATGCTGTGCCTCTCTCTACAAG -3'

Posted On

2016-06-06