Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01326:Scn7a'

74268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

1110034K09Rik, NaG, Nav2, Nax, Nav2.3, Scn6a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL01326

Quality Score

Status

Chromosome

Chromosomal Location

66503770-66615254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66582604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 98 (I98V)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably benign
Transcript: ENSMUST00000042792
AA Change: I98V

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: I98V

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	A	3: 137,992,672 (GRCm39)	V263M	probably damaging	Het
Akap13	T	A	7: 75,375,096 (GRCm39)	H1909Q	probably benign	Het
Atg2b	C	T	12: 105,588,403 (GRCm39)	A1936T	probably damaging	Het
Atp8b3	G	T	10: 80,360,210 (GRCm39)	L954M	probably damaging	Het
C8a	T	C	4: 104,713,617 (GRCm39)	Y171C	probably damaging	Het
Cd6	A	G	19: 10,768,466 (GRCm39)	S508P	probably benign	Het
Cdk4	A	G	10: 126,900,492 (GRCm39)	D86G	possibly damaging	Het
Cdr2l	G	T	11: 115,281,796 (GRCm39)	R100S	probably benign	Het
Cndp1	T	A	18: 84,640,357 (GRCm39)	T283S	probably benign	Het
Cr2	T	C	1: 194,823,529 (GRCm39)	Y1023C	probably null	Het
Csmd3	A	G	15: 47,713,181 (GRCm39)	F1494L	probably benign	Het
Eeig2	A	G	3: 108,887,101 (GRCm39)	V299A	possibly damaging	Het
Eng	G	T	2: 32,562,394 (GRCm39)	G231W	probably benign	Het
Erp44	A	G	4: 48,218,126 (GRCm39)	V181A	probably benign	Het
Fkbp15	A	G	4: 62,241,487 (GRCm39)	S553P	probably damaging	Het
Glg1	A	G	8: 111,909,205 (GRCm39)	V495A	probably damaging	Het
Gm9631	A	T	11: 121,836,454 (GRCm39)	D28E	possibly damaging	Het
Gnptab	G	T	10: 88,268,927 (GRCm39)	L543F	probably damaging	Het
H4c3	A	T	13: 23,882,353 (GRCm39)	I27N	probably damaging	Het
Khdrbs2	T	G	1: 32,696,558 (GRCm39)	L329R	possibly damaging	Het
Kidins220	C	A	12: 25,088,498 (GRCm39)	H1080Q	probably damaging	Het
Maml1	G	A	11: 50,156,715 (GRCm39)	P487S	probably benign	Het
Me1	C	T	9: 86,480,771 (GRCm39)		probably null	Het
Morc2a	C	T	11: 3,631,775 (GRCm39)	R569C	probably benign	Het
Mrc1	A	G	2: 14,271,335 (GRCm39)	Q413R	probably damaging	Het
Mrgprx1	A	T	7: 47,671,517 (GRCm39)	C77S	probably benign	Het
Mtarc2	T	C	1: 184,566,048 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,575,147 (GRCm39)		probably benign	Het
Nr4a1	T	G	15: 101,171,940 (GRCm39)	L538R	probably damaging	Het
Olfm1	T	C	2: 28,119,564 (GRCm39)	Y385H	probably damaging	Het
Or4a39	A	T	2: 89,236,675 (GRCm39)	F249L	possibly damaging	Het
Or5m9	A	G	2: 85,877,627 (GRCm39)	E267G	probably damaging	Het
Pkd1	T	A	17: 24,795,148 (GRCm39)	Y2278*	probably null	Het
Plcg2	T	C	8: 118,300,738 (GRCm39)		probably benign	Het
Prkdc	G	T	16: 15,647,556 (GRCm39)	C3660F	probably benign	Het
Ptpn11	T	C	5: 121,281,199 (GRCm39)	D493G	probably damaging	Het
Rad23b	T	A	4: 55,383,601 (GRCm39)	F278I	possibly damaging	Het
Saxo2	T	C	7: 82,297,613 (GRCm39)	I9V	probably benign	Het
Serac1	T	A	17: 6,124,528 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,672,473 (GRCm39)	C274R	probably benign	Het
Sirt3	A	G	7: 140,444,006 (GRCm39)		probably benign	Het
Tctn3	A	G	19: 40,585,880 (GRCm39)	L555P	probably damaging	Het
Ttc14	A	G	3: 33,855,507 (GRCm39)	I151V	probably benign	Het
Ush2a	T	A	1: 187,995,518 (GRCm39)	Y96*	probably null	Het
Usp42	T	C	5: 143,706,970 (GRCm39)	T270A	possibly damaging	Het
Vmn1r31	A	G	6: 58,449,784 (GRCm39)	I27T	probably benign	Het
Vmn2r93	G	A	17: 18,536,906 (GRCm39)	A530T	possibly damaging	Het

Other mutations in Scn7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Scn7a	APN	2	66,513,671 (GRCm39)	splice site	probably benign
IGL00432:Scn7a	APN	2	66,572,326 (GRCm39)	nonsense	probably null
IGL00720:Scn7a	APN	2	66,506,388 (GRCm39)	missense	possibly damaging	0.67
IGL00783:Scn7a	APN	2	66,522,908 (GRCm39)	missense	probably damaging	0.99
IGL00784:Scn7a	APN	2	66,522,908 (GRCm39)	missense	probably damaging	0.99
IGL00926:Scn7a	APN	2	66,514,475 (GRCm39)	missense	probably benign	0.06
IGL00963:Scn7a	APN	2	66,534,289 (GRCm39)	splice site	probably benign
IGL01099:Scn7a	APN	2	66,514,582 (GRCm39)	missense	probably damaging	1.00
IGL01538:Scn7a	APN	2	66,534,196 (GRCm39)	missense	probably benign
IGL01624:Scn7a	APN	2	66,582,269 (GRCm39)	missense	probably benign	0.07
IGL01794:Scn7a	APN	2	66,505,853 (GRCm39)	missense	probably benign
IGL02100:Scn7a	APN	2	66,505,843 (GRCm39)	makesense	probably null
IGL02326:Scn7a	APN	2	66,530,392 (GRCm39)	missense	probably benign	0.00
IGL02472:Scn7a	APN	2	66,582,658 (GRCm39)	missense	probably damaging	1.00
IGL02528:Scn7a	APN	2	66,530,519 (GRCm39)	missense	probably damaging	1.00
IGL02798:Scn7a	APN	2	66,544,219 (GRCm39)	missense	probably benign	0.00
IGL03026:Scn7a	APN	2	66,506,442 (GRCm39)	missense	probably damaging	0.99
IGL03071:Scn7a	APN	2	66,530,291 (GRCm39)	missense	possibly damaging	0.89
IGL03080:Scn7a	APN	2	66,528,160 (GRCm39)	missense	probably benign	0.01
IGL03180:Scn7a	APN	2	66,506,578 (GRCm39)	missense	possibly damaging	0.94
IGL03337:Scn7a	APN	2	66,506,304 (GRCm39)	missense	probably benign	0.00
alert	UTSW	2	66,510,590 (GRCm39)	nonsense	probably null
glimmer	UTSW	2	66,574,047 (GRCm39)	missense	probably damaging	0.96
Uptick	UTSW	2	66,530,393 (GRCm39)	nonsense	probably null
PIT4514001:Scn7a	UTSW	2	66,514,523 (GRCm39)	missense	probably damaging	1.00
R0004:Scn7a	UTSW	2	66,518,139 (GRCm39)	missense	possibly damaging	0.81
R0076:Scn7a	UTSW	2	66,544,381 (GRCm39)	missense	probably benign	0.04
R0230:Scn7a	UTSW	2	66,556,628 (GRCm39)	missense	probably damaging	1.00
R0463:Scn7a	UTSW	2	66,506,084 (GRCm39)	missense	probably benign	0.05
R0846:Scn7a	UTSW	2	66,527,944 (GRCm39)	missense	possibly damaging	0.71
R1237:Scn7a	UTSW	2	66,510,639 (GRCm39)	missense	probably damaging	0.98
R1282:Scn7a	UTSW	2	66,531,193 (GRCm39)	missense	probably damaging	0.98
R1467:Scn7a	UTSW	2	66,519,902 (GRCm39)	missense	probably benign	0.01
R1467:Scn7a	UTSW	2	66,519,902 (GRCm39)	missense	probably benign	0.01
R1501:Scn7a	UTSW	2	66,530,507 (GRCm39)	missense	probably benign	0.37
R1672:Scn7a	UTSW	2	66,527,944 (GRCm39)	missense	possibly damaging	0.71
R1690:Scn7a	UTSW	2	66,506,287 (GRCm39)	missense	probably damaging	0.99
R1712:Scn7a	UTSW	2	66,535,447 (GRCm39)	missense	probably benign	0.05
R1758:Scn7a	UTSW	2	66,531,231 (GRCm39)	missense	probably damaging	0.97
R1758:Scn7a	UTSW	2	66,510,527 (GRCm39)	missense	probably benign	0.00
R1775:Scn7a	UTSW	2	66,511,299 (GRCm39)	missense	probably benign	0.02
R1848:Scn7a	UTSW	2	66,514,357 (GRCm39)	critical splice donor site	probably null
R1851:Scn7a	UTSW	2	66,510,635 (GRCm39)	missense	probably benign
R1919:Scn7a	UTSW	2	66,530,317 (GRCm39)	missense	probably damaging	1.00
R1932:Scn7a	UTSW	2	66,506,446 (GRCm39)	missense	probably damaging	1.00
R1945:Scn7a	UTSW	2	66,506,324 (GRCm39)	missense	probably damaging	1.00
R1970:Scn7a	UTSW	2	66,514,633 (GRCm39)	missense	possibly damaging	0.89
R1998:Scn7a	UTSW	2	66,513,613 (GRCm39)	missense	probably damaging	0.99
R2008:Scn7a	UTSW	2	66,518,091 (GRCm39)	missense	possibly damaging	0.82
R2038:Scn7a	UTSW	2	66,567,780 (GRCm39)	missense	probably damaging	1.00
R2113:Scn7a	UTSW	2	66,506,312 (GRCm39)	missense	probably damaging	1.00
R2128:Scn7a	UTSW	2	66,528,330 (GRCm39)	missense	probably damaging	0.99
R2163:Scn7a	UTSW	2	66,506,300 (GRCm39)	missense	probably damaging	0.97
R2421:Scn7a	UTSW	2	66,556,646 (GRCm39)	splice site	probably benign
R2446:Scn7a	UTSW	2	66,523,002 (GRCm39)	missense	probably damaging	0.98
R2922:Scn7a	UTSW	2	66,530,551 (GRCm39)	splice site	probably benign
R3015:Scn7a	UTSW	2	66,530,240 (GRCm39)	missense	probably benign	0.08
R3034:Scn7a	UTSW	2	66,513,152 (GRCm39)	missense	probably damaging	1.00
R3419:Scn7a	UTSW	2	66,531,239 (GRCm39)	frame shift	probably null
R3429:Scn7a	UTSW	2	66,531,239 (GRCm39)	frame shift	probably null
R3430:Scn7a	UTSW	2	66,531,239 (GRCm39)	frame shift	probably null
R3434:Scn7a	UTSW	2	66,505,847 (GRCm39)	missense	probably benign	0.01
R3803:Scn7a	UTSW	2	66,510,590 (GRCm39)	nonsense	probably null
R3831:Scn7a	UTSW	2	66,528,028 (GRCm39)	missense	probably damaging	0.96
R3833:Scn7a	UTSW	2	66,528,028 (GRCm39)	missense	probably damaging	0.96
R4017:Scn7a	UTSW	2	66,572,329 (GRCm39)	missense	probably damaging	1.00
R4244:Scn7a	UTSW	2	66,572,345 (GRCm39)	missense	probably benign	0.00
R4245:Scn7a	UTSW	2	66,572,345 (GRCm39)	missense	probably benign	0.00
R4276:Scn7a	UTSW	2	66,514,407 (GRCm39)	missense	probably damaging	0.97
R4307:Scn7a	UTSW	2	66,506,099 (GRCm39)	missense	possibly damaging	0.47
R4327:Scn7a	UTSW	2	66,567,815 (GRCm39)	missense	probably damaging	1.00
R4353:Scn7a	UTSW	2	66,506,780 (GRCm39)	missense	probably benign	0.00
R4721:Scn7a	UTSW	2	66,514,529 (GRCm39)	missense	probably damaging	1.00
R4722:Scn7a	UTSW	2	66,531,228 (GRCm39)	missense	possibly damaging	0.95
R4781:Scn7a	UTSW	2	66,534,104 (GRCm39)	missense	possibly damaging	0.95
R4792:Scn7a	UTSW	2	66,556,592 (GRCm39)	missense	probably damaging	1.00
R5362:Scn7a	UTSW	2	66,530,342 (GRCm39)	missense	probably damaging	1.00
R5437:Scn7a	UTSW	2	66,506,690 (GRCm39)	missense	probably damaging	1.00
R5729:Scn7a	UTSW	2	66,572,301 (GRCm39)	critical splice donor site	probably null
R5777:Scn7a	UTSW	2	66,522,913 (GRCm39)	missense	probably damaging	1.00
R5785:Scn7a	UTSW	2	66,527,912 (GRCm39)	missense	possibly damaging	0.79
R5821:Scn7a	UTSW	2	66,574,047 (GRCm39)	missense	probably damaging	0.96
R5830:Scn7a	UTSW	2	66,544,395 (GRCm39)	nonsense	probably null
R5877:Scn7a	UTSW	2	66,530,217 (GRCm39)	nonsense	probably null
R5881:Scn7a	UTSW	2	66,505,870 (GRCm39)	missense	probably benign	0.01
R5967:Scn7a	UTSW	2	66,506,057 (GRCm39)	missense	probably damaging	1.00
R5988:Scn7a	UTSW	2	66,556,558 (GRCm39)	nonsense	probably null
R6077:Scn7a	UTSW	2	66,527,940 (GRCm39)	missense	probably damaging	1.00
R6135:Scn7a	UTSW	2	66,534,244 (GRCm39)	missense	probably benign
R6242:Scn7a	UTSW	2	66,531,110 (GRCm39)	missense	probably benign	0.00
R6264:Scn7a	UTSW	2	66,505,870 (GRCm39)	missense	possibly damaging	0.93
R6291:Scn7a	UTSW	2	66,530,458 (GRCm39)	missense	probably damaging	0.98
R6544:Scn7a	UTSW	2	66,514,444 (GRCm39)	missense	probably damaging	1.00
R6770:Scn7a	UTSW	2	66,559,528 (GRCm39)	splice site	probably null
R6997:Scn7a	UTSW	2	66,534,147 (GRCm39)	missense	probably damaging	1.00
R7014:Scn7a	UTSW	2	66,572,303 (GRCm39)	missense	probably null	1.00
R7126:Scn7a	UTSW	2	66,587,630 (GRCm39)	missense	possibly damaging	0.80
R7129:Scn7a	UTSW	2	66,530,537 (GRCm39)	missense	probably benign	0.14
R7176:Scn7a	UTSW	2	66,506,632 (GRCm39)	missense	probably damaging	1.00
R7185:Scn7a	UTSW	2	66,518,139 (GRCm39)	missense	possibly damaging	0.81
R7276:Scn7a	UTSW	2	66,587,506 (GRCm39)	missense	probably damaging	1.00
R7332:Scn7a	UTSW	2	66,522,898 (GRCm39)	nonsense	probably null
R7421:Scn7a	UTSW	2	66,505,876 (GRCm39)	missense	probably benign	0.07
R7488:Scn7a	UTSW	2	66,587,574 (GRCm39)	missense	probably benign	0.16
R7636:Scn7a	UTSW	2	66,574,172 (GRCm39)	missense	possibly damaging	0.67
R7685:Scn7a	UTSW	2	66,506,536 (GRCm39)	missense	probably damaging	1.00
R7711:Scn7a	UTSW	2	66,531,221 (GRCm39)	missense	probably damaging	1.00
R7813:Scn7a	UTSW	2	66,506,689 (GRCm39)	missense	probably damaging	1.00
R7833:Scn7a	UTSW	2	66,506,494 (GRCm39)	missense	probably damaging	1.00
R7914:Scn7a	UTSW	2	66,530,294 (GRCm39)	missense	probably damaging	0.97
R7953:Scn7a	UTSW	2	66,587,670 (GRCm39)	missense	possibly damaging	0.90
R7970:Scn7a	UTSW	2	66,506,173 (GRCm39)	missense	probably damaging	1.00
R8061:Scn7a	UTSW	2	66,522,938 (GRCm39)	missense	probably damaging	1.00
R8121:Scn7a	UTSW	2	66,531,203 (GRCm39)	missense	probably damaging	1.00
R8172:Scn7a	UTSW	2	66,506,191 (GRCm39)	missense	possibly damaging	0.90
R8209:Scn7a	UTSW	2	66,531,204 (GRCm39)	missense	possibly damaging	0.88
R8226:Scn7a	UTSW	2	66,531,204 (GRCm39)	missense	possibly damaging	0.88
R8288:Scn7a	UTSW	2	66,506,318 (GRCm39)	missense	probably damaging	1.00
R8431:Scn7a	UTSW	2	66,534,164 (GRCm39)	missense	possibly damaging	0.62
R8678:Scn7a	UTSW	2	66,574,041 (GRCm39)	splice site	probably benign
R8745:Scn7a	UTSW	2	66,510,526 (GRCm39)	missense	probably benign
R8781:Scn7a	UTSW	2	66,567,775 (GRCm39)	missense	probably benign	0.03
R8848:Scn7a	UTSW	2	66,530,393 (GRCm39)	nonsense	probably null
R8878:Scn7a	UTSW	2	66,506,199 (GRCm39)	missense	probably damaging	1.00
R8943:Scn7a	UTSW	2	66,525,206 (GRCm39)	synonymous	silent
R8991:Scn7a	UTSW	2	66,514,588 (GRCm39)	missense	possibly damaging	0.65
R9147:Scn7a	UTSW	2	66,514,507 (GRCm39)	missense	possibly damaging	0.89
R9148:Scn7a	UTSW	2	66,514,507 (GRCm39)	missense	possibly damaging	0.89
R9402:Scn7a	UTSW	2	66,510,456 (GRCm39)	missense	probably damaging	1.00
R9501:Scn7a	UTSW	2	66,582,579 (GRCm39)	missense	probably benign	0.00
R9546:Scn7a	UTSW	2	66,582,603 (GRCm39)	missense	possibly damaging	0.93
R9715:Scn7a	UTSW	2	66,519,902 (GRCm39)	missense	possibly damaging	0.93
X0060:Scn7a	UTSW	2	66,520,026 (GRCm39)	missense	probably benign	0.01
X0066:Scn7a	UTSW	2	66,510,536 (GRCm39)	missense	probably benign
Z1088:Scn7a	UTSW	2	66,544,295 (GRCm39)	missense	probably damaging	0.98
Z1177:Scn7a	UTSW	2	66,582,613 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07