Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01624:Scn7a'

92646

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 #

IGL01624

Quality Score

Status

Chromosome

Chromosomal Location

66503770-66615254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66582269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 131 (T131A)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably benign
Transcript: ENSMUST00000042792
AA Change: T131A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: T131A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,341,205 (GRCm39)	T18I	probably damaging	Het
Acod1	A	G	14: 103,292,669 (GRCm39)	T398A	probably benign	Het
Adgrl2	A	G	3: 148,542,163 (GRCm39)	V853A	probably damaging	Het
Ankhd1	T	C	18: 36,791,066 (GRCm39)	S2488P	probably damaging	Het
Ankrd28	T	C	14: 31,432,814 (GRCm39)	I578V	probably benign	Het
Atp2c2	A	C	8: 120,484,189 (GRCm39)	R933S	probably benign	Het
Cyp26a1	A	T	19: 37,686,781 (GRCm39)	I78F	possibly damaging	Het
Gck	A	G	11: 5,853,106 (GRCm39)	V338A	possibly damaging	Het
Ints6	A	T	14: 62,934,320 (GRCm39)	M729K	probably benign	Het
Kank2	C	A	9: 21,691,676 (GRCm39)	G500W	probably damaging	Het
Kansl1	G	A	11: 104,315,378 (GRCm39)	T220I	probably benign	Het
Lgi4	T	C	7: 30,767,113 (GRCm39)	L380P	probably damaging	Het
Lhx9	G	T	1: 138,760,521 (GRCm39)	Y276*	probably null	Het
Lipm	T	A	19: 34,098,545 (GRCm39)	Y340N	probably damaging	Het
Mlxip	A	G	5: 123,533,392 (GRCm39)	T134A	probably benign	Het
Nwd2	A	T	5: 63,964,153 (GRCm39)	I1246F	probably damaging	Het
Or14j3	A	T	17: 37,900,816 (GRCm39)	W143R	probably benign	Het
Or6c69c	T	A	10: 129,910,519 (GRCm39)	L80H	probably damaging	Het
Or8h9	A	G	2: 86,789,574 (GRCm39)	V76A	probably benign	Het
Rbm44	T	A	1: 91,084,380 (GRCm39)	N601K	probably damaging	Het
Rgs4	T	A	1: 169,572,047 (GRCm39)	Y84F	probably benign	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Slitrk5	T	A	14: 111,918,526 (GRCm39)	Y717N	probably damaging	Het
Sox6	A	G	7: 115,076,203 (GRCm39)	S770P	probably damaging	Het
Spata31	T	C	13: 65,069,399 (GRCm39)	W516R	probably damaging	Het
Sugt1	A	G	14: 79,834,230 (GRCm39)	N77S	probably benign	Het
Sumf1	C	T	6: 108,130,162 (GRCm39)	D186N	probably damaging	Het
Syde2	T	C	3: 145,712,790 (GRCm39)	L709S	probably damaging	Het
Tcp1	T	A	17: 13,138,812 (GRCm39)	I163K	probably benign	Het
Upf2	A	T	2: 6,038,990 (GRCm39)	E287D	probably benign	Het
Usp17lb	A	G	7: 104,491,720 (GRCm39)		probably benign	Het
Vmn2r10	G	A	5: 109,154,112 (GRCm39)	S64F	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
IGL01326:Scn7a	APN	2	66,582,604 (GRCm39)	missense	probably benign	0.13
IGL01538:Scn7a	APN	2	66,534,196 (GRCm39)	missense	probably benign
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

2013-12-09