Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Scn7a'

32368

Institutional Source

Beutler Lab

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

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

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

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

Stock #

R0004 (G1)

Quality Score

194

Status

Validated (trace)

Chromosome

Chromosomal Location

66503770-66615254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66518139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1024 (N1024I)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042792
AA Change: N1024I

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: N1024I

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGTGACGAGCAAAGCTTCTCTC -3'
(R):5'- GGAACCTTCAAAGTTCCATCGTCCC -3'

Sequencing Primer
(F):5'- GAGCAAAGCTTCTCTCTTTGTAATG -3'
(R):5'- tcctccctcctttatccactc -3'

Posted On

2013-05-09