Mutagenetix > Incidental Mutation

Incidental Mutation 'R5777:Scn7a'

446740

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

Accession Numbers

Essential gene?

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

Stock #

R5777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66692569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 930 (I930M)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042792
AA Change: I930M

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

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: I930M

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 105,567,368 (GRCm38)	E41G	probably benign	Het
Amph	A	T	13: 19,046,016 (GRCm38)	N45Y	probably damaging	Het
Atp11a	T	A	8: 12,832,522 (GRCm38)	L470Q	probably damaging	Het
C130073F10Rik	T	A	4: 101,890,749 (GRCm38)	Y76F	possibly damaging	Het
Casp12	A	T	9: 5,354,548 (GRCm38)	I306F	probably benign	Het
Cobll1	A	T	2: 65,103,268 (GRCm38)	M460K	probably benign	Het
Col6a4	A	T	9: 106,013,696 (GRCm38)	L1800I	possibly damaging	Het
Ctdsp1	T	C	1: 74,394,068 (GRCm38)	V131A	probably damaging	Het
Ctnna3	A	G	10: 64,675,885 (GRCm38)	H618R	probably benign	Het
Dhx38	C	A	8: 109,556,902 (GRCm38)	V538L	possibly damaging	Het
Dtwd1	A	G	2: 126,159,813 (GRCm38)	D151G	probably damaging	Het
Fbxw28	A	G	9: 109,338,536 (GRCm38)	L51P	probably damaging	Het
Gm4781	C	T	10: 100,396,969 (GRCm38)		noncoding transcript	Het
Gm5134	C	A	10: 76,004,760 (GRCm38)	F479L	probably benign	Het
Hexa	T	G	9: 59,560,960 (GRCm38)	V290G	probably damaging	Het
Hist3h2ba	A	G	11: 58,949,009 (GRCm38)	K24E	probably benign	Het
Ifi206	C	T	1: 173,481,362 (GRCm38)	R356K	possibly damaging	Het
Kcnj12	G	A	11: 61,070,451 (GRCm38)	R525Q	possibly damaging	Het
Lrp2	A	T	2: 69,455,525 (GRCm38)	I3774N	probably damaging	Het
Msh4	C	A	3: 153,863,439 (GRCm38)	M832I	probably benign	Het
Myh10	A	G	11: 68,785,859 (GRCm38)	E852G	probably damaging	Het
Ndufaf1	A	T	2: 119,660,482 (GRCm38)	C32*	probably null	Het
Nos2	A	G	11: 78,940,152 (GRCm38)	E387G	probably null	Het
Olfr1062	A	G	2: 86,423,325 (GRCm38)	V117A	probably benign	Het
Olfr1311	C	T	2: 112,021,531 (GRCm38)	G108R	probably damaging	Het
Olfr1352	A	C	10: 78,984,678 (GRCm38)	D296A	possibly damaging	Het
Olfr197	T	A	16: 59,185,903 (GRCm38)	L193F	unknown	Het
Olfr545	A	G	7: 102,493,971 (GRCm38)	V268A	probably benign	Het
Olfr847	A	T	9: 19,375,718 (GRCm38)	H54Q	probably benign	Het
P3h3	T	C	6: 124,855,958 (GRCm38)	T211A	probably benign	Het
Pcdh7	A	G	5: 57,719,514 (GRCm38)	N137S	probably damaging	Het
Pgf	T	C	12: 85,169,374 (GRCm38)	T157A	possibly damaging	Het
Prex1	T	C	2: 166,586,659 (GRCm38)	D714G	probably damaging	Het
Siglecg	T	C	7: 43,409,413 (GRCm38)	S197P	possibly damaging	Het
Skint7	T	A	4: 111,988,092 (GRCm38)	I367N	probably benign	Het
Slfn5	A	T	11: 82,961,004 (GRCm38)	D652V	probably damaging	Het
Stx1b	G	A	7: 127,810,918 (GRCm38)	Q3*	probably null	Het
Tex35	T	C	1: 157,107,207 (GRCm38)	M46V	probably benign	Het
Tkt	A	C	14: 30,558,776 (GRCm38)	T55P	possibly damaging	Het
Trim30c	T	C	7: 104,383,331 (GRCm38)	R263G	probably benign	Het
U2af2	G	A	7: 5,066,451 (GRCm38)	R33Q	probably benign	Het
Washc4	T	A	10: 83,555,605 (GRCm38)	V182D	probably damaging	Het
Xirp2	T	C	2: 67,510,004 (GRCm38)	V863A	possibly damaging	Het
Zfp976	T	G	7: 42,614,080 (GRCm38)	H111P	probably benign	Het
Zfp982	A	T	4: 147,510,864 (GRCm38)	N48Y	probably damaging	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
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
R8061:Scn7a	UTSW	2	66,692,594 (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'- GTGCAGAAAATGAACTCTGGTG -3'
(R):5'- TCCTCTAGGGTTAAAGGACATTCTG -3'

Sequencing Primer
(F):5'- TGACATTTCCTGAGGCTG -3'
(R):5'- AGAGCATCTGCATCAGAATCAG -3'

Posted On

2016-12-15