Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Scn3a'

678535

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

068701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65287462-65397935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65338883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 599 (S599C)

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: S599C

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

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: S599C

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: S599C

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

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: S599C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cept1	A	C	3: 106,446,565 (GRCm39)	S94A	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Cpne4	A	G	9: 104,799,706 (GRCm39)		probably benign	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Hgs	T	C	11: 120,369,202 (GRCm39)		probably null	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,773,793 (GRCm39)	R166G	probably damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Rreb1	A	G	13: 38,132,741 (GRCm39)	K204E		Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	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
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
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'- AAGCTGTCCAGTAGGTGACG -3'
(R):5'- TTAAACAATTATGTCCCACCCTGC -3'

Sequencing Primer
(F):5'- TAAGAGCTGAGGGTCCACC -3'
(R):5'- GCCCCCTGTCCCCTATC -3'

Posted On

2021-08-02