Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Scn7a'

412168

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66676234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1437 (D1437G)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042792
AA Change: D1437G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: D1437G

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,175,635 (GRCm38)	Y321H	probably benign	Het
Adam28	T	A	14: 68,637,434 (GRCm38)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,783,950 (GRCm38)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,535,662 (GRCm38)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,775,330 (GRCm38)		probably null	Het
Aspn	C	T	13: 49,563,515 (GRCm38)	R256W	probably damaging	Het
Birc6	T	C	17: 74,659,231 (GRCm38)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,603,252 (GRCm38)	L2584F	unknown	Het
Chdh	T	A	14: 30,034,602 (GRCm38)		probably null	Het
Clasp1	A	G	1: 118,505,525 (GRCm38)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,924,818 (GRCm38)	V70I	probably benign	Het
Cpt2	A	T	4: 107,906,960 (GRCm38)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,886,639 (GRCm38)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,029,551 (GRCm38)	F38Y	probably benign	Het
Eif4ebp2	T	C	10: 61,433,810 (GRCm38)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,036,269 (GRCm38)	I609T	probably damaging	Het
Esam	G	A	9: 37,534,570 (GRCm38)	G135S	probably damaging	Het
Fut7	C	A	2: 25,425,453 (GRCm38)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,853,329 (GRCm38)	K706M	probably damaging	Het
Grip2	A	G	6: 91,785,761 (GRCm38)		probably benign	Het
Gtf2ird2	A	G	5: 134,191,248 (GRCm38)	T22A	probably damaging	Het
Hadh	T	C	3: 131,271,884 (GRCm38)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,413,508 (GRCm38)		probably benign	Het
Izumo3	G	A	4: 92,146,287 (GRCm38)		probably benign	Het
Ldlrad1	G	T	4: 107,217,835 (GRCm38)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,837,628 (GRCm38)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,988,085 (GRCm38)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,386,912 (GRCm38)	P346Q	possibly damaging	Het
Mkl2	A	G	16: 13,398,332 (GRCm38)	K303E	probably damaging	Het
Nlrp14	T	A	7: 107,182,626 (GRCm38)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,333,494 (GRCm38)		probably null	Het
Olfr1023	A	T	2: 85,887,396 (GRCm38)	M199L	probably benign	Het
Olfr361	C	T	2: 37,085,710 (GRCm38)	V13M	possibly damaging	Het
Pafah1b1	A	T	11: 74,683,518 (GRCm38)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,607,382 (GRCm38)	R386W	probably damaging	Het
Pex5	A	G	6: 124,413,563 (GRCm38)		probably benign	Het
Pibf1	C	A	14: 99,133,344 (GRCm38)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,956,153 (GRCm38)	S935G	probably benign	Het
Polg	A	G	7: 79,451,853 (GRCm38)		probably benign	Het
Ptpdc1	G	A	13: 48,586,077 (GRCm38)	T626I	probably damaging	Het
Rab34	A	T	11: 78,190,318 (GRCm38)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 67,082,543 (GRCm38)		probably benign	Het
Ryr2	T	C	13: 11,568,563 (GRCm38)	N4735S	possibly damaging	Het
Sdk1	A	G	5: 142,085,742 (GRCm38)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,436,285 (GRCm38)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,868,575 (GRCm38)		probably null	Het
Sla	A	G	15: 66,789,720 (GRCm38)	I121T	probably benign	Het
Son	T	C	16: 91,657,008 (GRCm38)	L881S	probably damaging	Het
Srms	A	G	2: 181,212,780 (GRCm38)		probably benign	Het
Stoml1	T	C	9: 58,260,917 (GRCm38)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,759,256 (GRCm38)	D73G	probably damaging	Het
Tmem206	G	T	1: 191,338,892 (GRCm38)	V82F	probably damaging	Het
Tpp1	T	C	7: 105,746,649 (GRCm38)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,512,702 (GRCm38)		probably benign	Het
Vmn2r77	A	G	7: 86,801,635 (GRCm38)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,765 (GRCm38)	D261G	probably damaging	Het
Wdr60	T	C	12: 116,218,865 (GRCm38)	S706G	probably benign	Het
Zfpm2	A	G	15: 41,101,394 (GRCm38)	K293R	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
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
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

Posted On

2016-08-02