Mutagenetix > Incidental Mutation

Incidental Mutation 'R8731:Scn3a'

662737

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

068579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65287462-65397935 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 65298507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1397 (Y1397*)

Ref Sequence

ENSEMBL: ENSMUSP00000065023 (fasta)

Gene Model

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

AlphaFold

A2ASI5

Predicted Effect

probably null
Transcript: ENSMUST00000066432
AA Change: Y1397*

SMART Domains

Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: Y1397*

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 null
Transcript: ENSMUST00000100069
AA Change: Y1397*

SMART Domains

Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: Y1397*

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: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,932,367 (GRCm39)	D294V	probably benign	Het
Abcc8	T	G	7: 45,803,986 (GRCm39)	Y396S	probably damaging	Het
Ace	T	A	11: 105,861,426 (GRCm39)	F192I	possibly damaging	Het
Apeh	A	G	9: 107,964,422 (GRCm39)	S494P	probably benign	Het
Bod1	A	G	11: 31,619,242 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,800,006 (GRCm39)	M404T	probably benign	Het
Cc2d2a	A	T	5: 43,892,788 (GRCm39)	D1450V	probably damaging	Het
Cdk5rap2	A	T	4: 70,163,747 (GRCm39)		probably benign	Het
Clip1	A	C	5: 123,752,756 (GRCm39)	S342A		Het
Cox10	A	G	11: 63,855,045 (GRCm39)	F412S	probably damaging	Het
Cracr2a	T	G	6: 127,602,890 (GRCm39)		probably null	Het
Dcaf7	T	A	11: 105,945,548 (GRCm39)	M299K	possibly damaging	Het
Dffb	T	C	4: 154,059,101 (GRCm39)	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,844,535 (GRCm39)	M234V	possibly damaging	Het
Disp1	A	T	1: 182,869,072 (GRCm39)	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,571,157 (GRCm39)	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,607,018 (GRCm39)	V2565D	possibly damaging	Het
Fam227b	A	T	2: 125,968,898 (GRCm39)	Y59N	possibly damaging	Het
Gm21680	A	T	5: 26,173,230 (GRCm39)	V210D	probably damaging	Het
Gm57858	A	T	3: 36,089,434 (GRCm39)	N163K	probably benign	Het
Gnas	T	C	2: 174,126,699 (GRCm39)	V78A	probably benign	Het
Gpr179	T	C	11: 97,234,555 (GRCm39)	T509A	probably damaging	Het
Igfn1	A	G	1: 135,925,574 (GRCm39)	M60T	probably benign	Het
Llgl2	A	G	11: 115,742,016 (GRCm39)	Q686R	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk3	T	G	8: 86,085,634 (GRCm39)	E300A	probably benign	Het
Myo1b	A	C	1: 51,799,570 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,806,486 (GRCm39)		probably null	Het
Nalcn	T	C	14: 123,837,266 (GRCm39)	I33V	probably benign	Het
Nsl1	A	G	1: 190,814,609 (GRCm39)	Y270C	probably damaging	Het
Or5af1	C	T	11: 58,722,268 (GRCm39)	A96V	probably benign	Het
Otulin	A	G	15: 27,608,928 (GRCm39)	M205T	probably benign	Het
Plch1	A	T	3: 63,605,059 (GRCm39)	V1615E	probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scrib	A	T	15: 75,935,488 (GRCm39)	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,631,048 (GRCm39)	I56V	possibly damaging	Het
Spata7	T	A	12: 98,624,541 (GRCm39)	S148T	probably damaging	Het
Stk31	T	A	6: 49,415,435 (GRCm39)	L590Q	probably benign	Het
Tanc1	T	C	2: 59,673,596 (GRCm39)	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,310 (GRCm39)	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,629,363 (GRCm39)	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,024,404 (GRCm39)	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,589,447 (GRCm39)	L823*	probably null	Het
Vps11	T	C	9: 44,265,756 (GRCm39)	N508D	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
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
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'- TCCAATGGTCTGGTTAACTGTATG -3'
(R):5'- TTGTCAGGCAGGCTACAATG -3'

Sequencing Primer
(F):5'- AATGGTCTGGTTAACTGTATGAGATG -3'
(R):5'- TTGTCAGGCAGGCTACAATGAAAAAC -3'

Posted On

2021-03-08