Mutagenetix > Incidental Mutation

Incidental Mutation 'R8061:Scn7a'

619685

Institutional Source

Beutler Lab

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

NaG, Nav2, Nav2.3, Nax, Scn6a

MMRRC Submission

067497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66692594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 922 (N922I)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042792]

AlphaFold

B1AYL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042792
AA Change: N922I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: N922I

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	118	405	4.7e-53	PFAM
coiled coil region	415	443	N/A	INTRINSIC
Pfam:Ion_trans	505	739	5.8e-36	PFAM
Pfam:Na_trans_assoc	741	929	4.1e-17	PFAM
Pfam:Ion_trans	933	1204	3e-49	PFAM
Pfam:Ion_trans	1250	1505	5e-37	PFAM
IQ	1624	1646	6.4e-2	SMART

Meta Mutation Damage Score

0.6520

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	G	9: 8,042,671 (GRCm38)	W37R	probably damaging	Het
Acads	G	A	5: 115,117,651 (GRCm38)	R42C	probably benign	Het
Agrn	G	A	4: 156,178,954 (GRCm38)	R338C	probably damaging	Het
Anapc1	T	C	2: 128,648,488 (GRCm38)	E1008G	probably damaging	Het
Art5	A	T	7: 102,098,249 (GRCm38)	Y108N	possibly damaging	Het
As3mt	G	A	19: 46,740,543 (GRCm38)	C369Y	probably damaging	Het
Asb3	A	G	11: 30,998,447 (GRCm38)	N41S	probably damaging	Het
Astn1	G	A	1: 158,504,350 (GRCm38)		probably null	Het
Asxl3	T	A	18: 22,524,243 (GRCm38)	M1770K	possibly damaging	Het
Atp8b2	T	C	3: 89,946,220 (GRCm38)		probably benign	Het
Chrm1	T	C	19: 8,679,154 (GRCm38)	Y408H	possibly damaging	Het
Chst2	T	C	9: 95,405,171 (GRCm38)	H374R	probably damaging	Het
Cnot1	A	G	8: 95,765,027 (GRCm38)	F390L	possibly damaging	Het
Comt	T	C	16: 18,411,290 (GRCm38)	Y100C	probably benign	Het
Dclk2	T	C	3: 86,813,674 (GRCm38)		probably benign	Het
Dicer1	G	A	12: 104,702,818 (GRCm38)	Q1202*	probably null	Het
Disp1	C	T	1: 183,087,587 (GRCm38)	V1090M	probably damaging	Het
Dnajc28	T	C	16: 91,617,170 (GRCm38)	D62G	possibly damaging	Het
Dock1	C	T	7: 134,772,323 (GRCm38)	T566I	probably benign	Het
Dopey1	T	G	9: 86,521,193 (GRCm38)	M18R	possibly damaging	Het
Dopey2	T	C	16: 93,749,996 (GRCm38)	L296P	probably damaging	Het
Dsc2	C	T	18: 20,032,274 (GRCm38)	G881R	possibly damaging	Het
Efcab3	A	T	11: 105,106,449 (GRCm38)	D155V	probably benign	Het
Ehmt2	T	C	17: 34,905,927 (GRCm38)	S465P	possibly damaging	Het
Eno1b	G	A	18: 48,047,658 (GRCm38)	W301*	probably null	Het
Fam49a	G	T	12: 12,362,027 (GRCm38)	A150S	possibly damaging	Het
Fpgt	A	G	3: 155,087,266 (GRCm38)	S375P	probably benign	Het
Gas2l1	G	A	11: 5,061,785 (GRCm38)	S348F	possibly damaging	Het
Gen1	A	T	12: 11,261,076 (GRCm38)		probably benign	Het
Gm16486	A	G	8: 70,708,575 (GRCm38)	E139G	probably benign	Het
Ice1	A	T	13: 70,603,732 (GRCm38)	C1412S	probably damaging	Het
Klhl2	A	C	8: 64,758,223 (GRCm38)	L264V	probably damaging	Het
Lars2	A	G	9: 123,459,497 (GRCm38)	T803A	probably benign	Het
Ldb2	T	A	5: 44,480,270 (GRCm38)	K232M	probably damaging	Het
Lix1	G	A	17: 17,443,676 (GRCm38)	R92Q	probably damaging	Het
Meig1	C	T	2: 3,409,203 (GRCm38)	V87I	not run	Het
Mitf	A	C	6: 97,993,298 (GRCm38)	S176R	probably damaging	Het
Myh7	A	G	14: 54,990,941 (GRCm38)	V236A	probably benign	Het
Myo5a	T	A	9: 75,122,957 (GRCm38)	Y119*	probably null	Het
Ncapg2	A	G	12: 116,426,577 (GRCm38)	N382S	probably benign	Het
Neu2	C	T	1: 87,596,911 (GRCm38)	P206L	probably damaging	Het
Olfr753-ps1	A	G	17: 37,169,901 (GRCm38)	F147S	probably damaging	Het
Osbpl5	C	T	7: 143,702,724 (GRCm38)	R454Q	probably benign	Het
Panx1	A	G	9: 15,045,001 (GRCm38)	S13P	possibly damaging	Het
Pde2a	A	G	7: 101,503,972 (GRCm38)	D413G	probably benign	Het
Plcb1	A	T	2: 135,346,396 (GRCm38)	Y803F	probably benign	Het
Prrc2a	T	C	17: 35,161,186 (GRCm38)		probably benign	Het
Pth2r	T	A	1: 65,343,501 (GRCm38)	Y143N	possibly damaging	Het
Ptpn4	C	T	1: 119,691,600 (GRCm38)		probably null	Het
Rapgef3	T	C	15: 97,761,520 (GRCm38)	Y112C	probably benign	Het
Rusc2	A	G	4: 43,422,492 (GRCm38)	N907S	probably damaging	Het
Shprh	T	C	10: 11,212,333 (GRCm38)	V1620A	possibly damaging	Het
Slc25a54	T	A	3: 109,111,045 (GRCm38)	S280R	probably damaging	Het
Slc30a5	T	C	13: 100,828,911 (GRCm38)	I63M	probably damaging	Het
Smg1	A	T	7: 118,152,387 (GRCm38)	V2817E	unknown	Het
Sprr3	T	C	3: 92,456,877 (GRCm38)	E220G	probably damaging	Het
Tcf21	T	C	10: 22,819,863 (GRCm38)	E14G	probably benign	Het
Tenm4	A	G	7: 96,852,456 (GRCm38)	D1289G	probably damaging	Het
Tmem121b	C	A	6: 120,492,103 (GRCm38)	G551V	probably damaging	Het
Tpk1	A	G	6: 43,346,844 (GRCm38)	S224P	probably damaging	Het
Trib1	T	C	15: 59,651,555 (GRCm38)	I146T	probably damaging	Het
Ttc32	T	A	12: 9,034,953 (GRCm38)	Y58N	probably damaging	Het
Vcan	T	A	13: 89,657,290 (GRCm38)	I3336L	probably benign	Het
Vmn1r200	C	A	13: 22,395,283 (GRCm38)	Y85*	probably null	Het
Vps39	T	C	2: 120,344,211 (GRCm38)	I97V	probably benign	Het
Zan	T	A	5: 137,436,631 (GRCm38)	I2167F	unknown	Het
Zfp37	A	T	4: 62,191,428 (GRCm38)	Y507*	probably null	Het
Zfp39	A	G	11: 58,902,747 (GRCm38)	V55A	probably benign	Het
Zfp616	A	T	11: 74,083,514 (GRCm38)	N294I	possibly damaging	Het
Zfp729a	T	C	13: 67,620,089 (GRCm38)	T674A	probably benign	Het

Other mutations in Scn7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Scn7a	APN	2	66,683,327 (GRCm38)	splice site	probably benign
IGL00432:Scn7a	APN	2	66,741,982 (GRCm38)	nonsense	probably null
IGL00720:Scn7a	APN	2	66,676,044 (GRCm38)	missense	possibly damaging	0.67
IGL00783:Scn7a	APN	2	66,692,564 (GRCm38)	missense	probably damaging	0.99
IGL00784:Scn7a	APN	2	66,692,564 (GRCm38)	missense	probably damaging	0.99
IGL00926:Scn7a	APN	2	66,684,131 (GRCm38)	missense	probably benign	0.06
IGL00963:Scn7a	APN	2	66,703,945 (GRCm38)	splice site	probably benign
IGL01099:Scn7a	APN	2	66,684,238 (GRCm38)	missense	probably damaging	1.00
IGL01326:Scn7a	APN	2	66,752,260 (GRCm38)	missense	probably benign	0.13
IGL01538:Scn7a	APN	2	66,703,852 (GRCm38)	missense	probably benign
IGL01624:Scn7a	APN	2	66,751,925 (GRCm38)	missense	probably benign	0.07
IGL01794:Scn7a	APN	2	66,675,509 (GRCm38)	missense	probably benign
IGL02100:Scn7a	APN	2	66,675,499 (GRCm38)	makesense	probably null
IGL02326:Scn7a	APN	2	66,700,048 (GRCm38)	missense	probably benign	0.00
IGL02472:Scn7a	APN	2	66,752,314 (GRCm38)	missense	probably damaging	1.00
IGL02528:Scn7a	APN	2	66,700,175 (GRCm38)	missense	probably damaging	1.00
IGL02798:Scn7a	APN	2	66,713,875 (GRCm38)	missense	probably benign	0.00
IGL03026:Scn7a	APN	2	66,676,098 (GRCm38)	missense	probably damaging	0.99
IGL03071:Scn7a	APN	2	66,699,947 (GRCm38)	missense	possibly damaging	0.89
IGL03080:Scn7a	APN	2	66,697,816 (GRCm38)	missense	probably benign	0.01
IGL03180:Scn7a	APN	2	66,676,234 (GRCm38)	missense	possibly damaging	0.94
IGL03337:Scn7a	APN	2	66,675,960 (GRCm38)	missense	probably benign	0.00
alert	UTSW	2	66,680,246 (GRCm38)	nonsense	probably null
glimmer	UTSW	2	66,743,703 (GRCm38)	missense	probably damaging	0.96
Uptick	UTSW	2	66,700,049 (GRCm38)	nonsense	probably null
PIT4514001:Scn7a	UTSW	2	66,684,179 (GRCm38)	missense	probably damaging	1.00
R0004:Scn7a	UTSW	2	66,687,795 (GRCm38)	missense	possibly damaging	0.81
R0076:Scn7a	UTSW	2	66,714,037 (GRCm38)	missense	probably benign	0.04
R0230:Scn7a	UTSW	2	66,726,284 (GRCm38)	missense	probably damaging	1.00
R0463:Scn7a	UTSW	2	66,675,740 (GRCm38)	missense	probably benign	0.05
R0846:Scn7a	UTSW	2	66,697,600 (GRCm38)	missense	possibly damaging	0.71
R1237:Scn7a	UTSW	2	66,680,295 (GRCm38)	missense	probably damaging	0.98
R1282:Scn7a	UTSW	2	66,700,849 (GRCm38)	missense	probably damaging	0.98
R1467:Scn7a	UTSW	2	66,689,558 (GRCm38)	missense	probably benign	0.01
R1467:Scn7a	UTSW	2	66,689,558 (GRCm38)	missense	probably benign	0.01
R1501:Scn7a	UTSW	2	66,700,163 (GRCm38)	missense	probably benign	0.37
R1672:Scn7a	UTSW	2	66,697,600 (GRCm38)	missense	possibly damaging	0.71
R1690:Scn7a	UTSW	2	66,675,943 (GRCm38)	missense	probably damaging	0.99
R1712:Scn7a	UTSW	2	66,705,103 (GRCm38)	missense	probably benign	0.05
R1758:Scn7a	UTSW	2	66,700,887 (GRCm38)	missense	probably damaging	0.97
R1758:Scn7a	UTSW	2	66,680,183 (GRCm38)	missense	probably benign	0.00
R1775:Scn7a	UTSW	2	66,680,955 (GRCm38)	missense	probably benign	0.02
R1848:Scn7a	UTSW	2	66,684,013 (GRCm38)	critical splice donor site	probably null
R1851:Scn7a	UTSW	2	66,680,291 (GRCm38)	missense	probably benign
R1919:Scn7a	UTSW	2	66,699,973 (GRCm38)	missense	probably damaging	1.00
R1932:Scn7a	UTSW	2	66,676,102 (GRCm38)	missense	probably damaging	1.00
R1945:Scn7a	UTSW	2	66,675,980 (GRCm38)	missense	probably damaging	1.00
R1970:Scn7a	UTSW	2	66,684,289 (GRCm38)	missense	possibly damaging	0.89
R1998:Scn7a	UTSW	2	66,683,269 (GRCm38)	missense	probably damaging	0.99
R2008:Scn7a	UTSW	2	66,687,747 (GRCm38)	missense	possibly damaging	0.82
R2038:Scn7a	UTSW	2	66,737,436 (GRCm38)	missense	probably damaging	1.00
R2113:Scn7a	UTSW	2	66,675,968 (GRCm38)	missense	probably damaging	1.00
R2128:Scn7a	UTSW	2	66,697,986 (GRCm38)	missense	probably damaging	0.99
R2163:Scn7a	UTSW	2	66,675,956 (GRCm38)	missense	probably damaging	0.97
R2421:Scn7a	UTSW	2	66,726,302 (GRCm38)	splice site	probably benign
R2446:Scn7a	UTSW	2	66,692,658 (GRCm38)	missense	probably damaging	0.98
R2922:Scn7a	UTSW	2	66,700,207 (GRCm38)	splice site	probably benign
R3015:Scn7a	UTSW	2	66,699,896 (GRCm38)	missense	probably benign	0.08
R3034:Scn7a	UTSW	2	66,682,808 (GRCm38)	missense	probably damaging	1.00
R3419:Scn7a	UTSW	2	66,700,895 (GRCm38)	frame shift	probably null
R3429:Scn7a	UTSW	2	66,700,895 (GRCm38)	frame shift	probably null
R3430:Scn7a	UTSW	2	66,700,895 (GRCm38)	frame shift	probably null
R3434:Scn7a	UTSW	2	66,675,503 (GRCm38)	missense	probably benign	0.01
R3803:Scn7a	UTSW	2	66,680,246 (GRCm38)	nonsense	probably null
R3831:Scn7a	UTSW	2	66,697,684 (GRCm38)	missense	probably damaging	0.96
R3833:Scn7a	UTSW	2	66,697,684 (GRCm38)	missense	probably damaging	0.96
R4017:Scn7a	UTSW	2	66,741,985 (GRCm38)	missense	probably damaging	1.00
R4244:Scn7a	UTSW	2	66,742,001 (GRCm38)	missense	probably benign	0.00
R4245:Scn7a	UTSW	2	66,742,001 (GRCm38)	missense	probably benign	0.00
R4276:Scn7a	UTSW	2	66,684,063 (GRCm38)	missense	probably damaging	0.97
R4307:Scn7a	UTSW	2	66,675,755 (GRCm38)	missense	possibly damaging	0.47
R4327:Scn7a	UTSW	2	66,737,471 (GRCm38)	missense	probably damaging	1.00
R4353:Scn7a	UTSW	2	66,676,436 (GRCm38)	missense	probably benign	0.00
R4721:Scn7a	UTSW	2	66,684,185 (GRCm38)	missense	probably damaging	1.00
R4722:Scn7a	UTSW	2	66,700,884 (GRCm38)	missense	possibly damaging	0.95
R4781:Scn7a	UTSW	2	66,703,760 (GRCm38)	missense	possibly damaging	0.95
R4792:Scn7a	UTSW	2	66,726,248 (GRCm38)	missense	probably damaging	1.00
R5362:Scn7a	UTSW	2	66,699,998 (GRCm38)	missense	probably damaging	1.00
R5437:Scn7a	UTSW	2	66,676,346 (GRCm38)	missense	probably damaging	1.00
R5729:Scn7a	UTSW	2	66,741,957 (GRCm38)	critical splice donor site	probably null
R5777:Scn7a	UTSW	2	66,692,569 (GRCm38)	missense	probably damaging	1.00
R5785:Scn7a	UTSW	2	66,697,568 (GRCm38)	missense	possibly damaging	0.79
R5821:Scn7a	UTSW	2	66,743,703 (GRCm38)	missense	probably damaging	0.96
R5830:Scn7a	UTSW	2	66,714,051 (GRCm38)	nonsense	probably null
R5877:Scn7a	UTSW	2	66,699,873 (GRCm38)	nonsense	probably null
R5881:Scn7a	UTSW	2	66,675,526 (GRCm38)	missense	probably benign	0.01
R5967:Scn7a	UTSW	2	66,675,713 (GRCm38)	missense	probably damaging	1.00
R5988:Scn7a	UTSW	2	66,726,214 (GRCm38)	nonsense	probably null
R6077:Scn7a	UTSW	2	66,697,596 (GRCm38)	missense	probably damaging	1.00
R6135:Scn7a	UTSW	2	66,703,900 (GRCm38)	missense	probably benign
R6242:Scn7a	UTSW	2	66,700,766 (GRCm38)	missense	probably benign	0.00
R6264:Scn7a	UTSW	2	66,675,526 (GRCm38)	missense	possibly damaging	0.93
R6291:Scn7a	UTSW	2	66,700,114 (GRCm38)	missense	probably damaging	0.98
R6544:Scn7a	UTSW	2	66,684,100 (GRCm38)	missense	probably damaging	1.00
R6770:Scn7a	UTSW	2	66,729,184 (GRCm38)	splice site	probably null
R6997:Scn7a	UTSW	2	66,703,803 (GRCm38)	missense	probably damaging	1.00
R7014:Scn7a	UTSW	2	66,741,959 (GRCm38)	missense	probably null	1.00
R7126:Scn7a	UTSW	2	66,757,286 (GRCm38)	missense	possibly damaging	0.80
R7129:Scn7a	UTSW	2	66,700,193 (GRCm38)	missense	probably benign	0.14
R7176:Scn7a	UTSW	2	66,676,288 (GRCm38)	missense	probably damaging	1.00
R7185:Scn7a	UTSW	2	66,687,795 (GRCm38)	missense	possibly damaging	0.81
R7276:Scn7a	UTSW	2	66,757,162 (GRCm38)	missense	probably damaging	1.00
R7332:Scn7a	UTSW	2	66,692,554 (GRCm38)	nonsense	probably null
R7421:Scn7a	UTSW	2	66,675,532 (GRCm38)	missense	probably benign	0.07
R7488:Scn7a	UTSW	2	66,757,230 (GRCm38)	missense	probably benign	0.16
R7636:Scn7a	UTSW	2	66,743,828 (GRCm38)	missense	possibly damaging	0.67
R7685:Scn7a	UTSW	2	66,676,192 (GRCm38)	missense	probably damaging	1.00
R7711:Scn7a	UTSW	2	66,700,877 (GRCm38)	missense	probably damaging	1.00
R7813:Scn7a	UTSW	2	66,676,345 (GRCm38)	missense	probably damaging	1.00
R7833:Scn7a	UTSW	2	66,676,150 (GRCm38)	missense	probably damaging	1.00
R7914:Scn7a	UTSW	2	66,699,950 (GRCm38)	missense	probably damaging	0.97
R7953:Scn7a	UTSW	2	66,757,326 (GRCm38)	missense	possibly damaging	0.90
R7970:Scn7a	UTSW	2	66,675,829 (GRCm38)	missense	probably damaging	1.00
R8121:Scn7a	UTSW	2	66,700,859 (GRCm38)	missense	probably damaging	1.00
R8172:Scn7a	UTSW	2	66,675,847 (GRCm38)	missense	possibly damaging	0.90
R8209:Scn7a	UTSW	2	66,700,860 (GRCm38)	missense	possibly damaging	0.88
R8226:Scn7a	UTSW	2	66,700,860 (GRCm38)	missense	possibly damaging	0.88
R8288:Scn7a	UTSW	2	66,675,974 (GRCm38)	missense	probably damaging	1.00
R8431:Scn7a	UTSW	2	66,703,820 (GRCm38)	missense	possibly damaging	0.62
R8678:Scn7a	UTSW	2	66,743,697 (GRCm38)	splice site	probably benign
R8745:Scn7a	UTSW	2	66,680,182 (GRCm38)	missense	probably benign
R8781:Scn7a	UTSW	2	66,737,431 (GRCm38)	missense	probably benign	0.03
R8848:Scn7a	UTSW	2	66,700,049 (GRCm38)	nonsense	probably null
R8878:Scn7a	UTSW	2	66,675,855 (GRCm38)	missense	probably damaging	1.00
R8943:Scn7a	UTSW	2	66,694,862 (GRCm38)	synonymous	silent
R8991:Scn7a	UTSW	2	66,684,244 (GRCm38)	missense	possibly damaging	0.65
R9147:Scn7a	UTSW	2	66,684,163 (GRCm38)	missense	possibly damaging	0.89
R9148:Scn7a	UTSW	2	66,684,163 (GRCm38)	missense	possibly damaging	0.89
R9402:Scn7a	UTSW	2	66,680,112 (GRCm38)	missense	probably damaging	1.00
R9501:Scn7a	UTSW	2	66,752,235 (GRCm38)	missense	probably benign	0.00
R9546:Scn7a	UTSW	2	66,752,259 (GRCm38)	missense	possibly damaging	0.93
R9715:Scn7a	UTSW	2	66,689,558 (GRCm38)	missense	possibly damaging	0.93
X0060:Scn7a	UTSW	2	66,689,682 (GRCm38)	missense	probably benign	0.01
X0066:Scn7a	UTSW	2	66,680,192 (GRCm38)	missense	probably benign
Z1088:Scn7a	UTSW	2	66,713,951 (GRCm38)	missense	probably damaging	0.98
Z1177:Scn7a	UTSW	2	66,752,269 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTAAAGTCATTTGGCATAGTGAC -3'
(R):5'- ACTCATCACAGACCACTGAGTG -3'

Sequencing Primer
(F):5'- GTCATTTGGCATAGTGACAATCTG -3'
(R):5'- AAGCCAAATGTCTGTGAATCAC -3'

Posted On

2020-01-23