Mutagenetix > Incidental Mutation

Incidental Mutation 'R9501:Scn7a'

717546

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

Accession Numbers

Essential gene?

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

Stock #

R9501 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66503770-66615254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66582579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 106 (N106S)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably benign
Transcript: ENSMUST00000042792
AA Change: N106S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: N106S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,214,853 (GRCm39)	V439D	probably damaging	Het
Abcf3	T	C	16: 20,379,125 (GRCm39)	S664P	probably damaging	Het
Anp32a	A	G	9: 62,282,019 (GRCm39)	S202G	unknown	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
AU040320	A	G	4: 126,735,032 (GRCm39)	K782R	probably benign	Het
Bach1	A	G	16: 87,515,999 (GRCm39)	Q180R	probably benign	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Chd2	T	C	7: 73,091,481 (GRCm39)	S1587G	possibly damaging	Het
Chd2	A	T	7: 73,130,294 (GRCm39)	I787N	probably damaging	Het
Chd8	T	A	14: 52,452,045 (GRCm39)	I1317L	probably benign	Het
Clca3a2	C	A	3: 144,777,322 (GRCm39)	E850*	probably null	Het
Clpb	G	A	7: 101,427,780 (GRCm39)	G375D	probably damaging	Het
Cobl	T	A	11: 12,328,235 (GRCm39)	I124F	possibly damaging	Het
Cope	A	G	8: 70,765,363 (GRCm39)	N271S	probably benign	Het
Cyp11b2	T	C	15: 74,722,961 (GRCm39)	D479G	probably damaging	Het
Dennd3	T	A	15: 73,419,041 (GRCm39)	C611S	probably benign	Het
Drosha	G	T	15: 12,928,992 (GRCm39)	V1299L	probably damaging	Het
Dst	A	G	1: 34,227,849 (GRCm39)	Y1814C	probably damaging	Het
Fbn2	A	G	18: 58,209,130 (GRCm39)	C1082R	probably damaging	Het
Fbxw22	A	T	9: 109,207,920 (GRCm39)	N450K	probably benign	Het
Hmcn1	T	A	1: 150,470,990 (GRCm39)	I4925F	possibly damaging	Het
Iho1	A	T	9: 108,282,500 (GRCm39)	V396E	probably benign	Het
Kin	G	T	2: 10,085,478 (GRCm39)	A13S	probably benign	Het
Lrp1b	G	A	2: 41,172,247 (GRCm39)	R1581C		Het
Myl2	T	C	5: 122,241,921 (GRCm39)	I66T	probably benign	Het
Npy5r	A	G	8: 67,134,137 (GRCm39)	C219R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oosp1	A	T	19: 11,664,757 (GRCm39)	Y100N	probably damaging	Het
Pdk4	A	G	6: 5,491,084 (GRCm39)	L227P	probably damaging	Het
Perm1	A	T	4: 156,302,177 (GRCm39)	E240D	probably benign	Het
Pi4ka	A	G	16: 17,204,156 (GRCm39)	L46P		Het
Pik3ca	A	G	3: 32,504,062 (GRCm39)	Y584C	probably damaging	Het
Prnp	T	C	2: 131,779,037 (GRCm39)	S230P	probably benign	Het
Rftn2	A	G	1: 55,241,355 (GRCm39)	F315S	possibly damaging	Het
Rp1l1	A	G	14: 64,266,039 (GRCm39)	R542G	probably benign	Het
Sec24a	A	T	11: 51,603,122 (GRCm39)	N775K	probably damaging	Het
Slc13a2	G	A	11: 78,291,633 (GRCm39)	T340M	probably damaging	Het
Slc5a3	A	G	16: 91,875,257 (GRCm39)	Y438C	probably damaging	Het
Smarca2	A	G	19: 26,617,977 (GRCm39)	Q336R	probably benign	Het
Snx7	A	G	3: 117,632,611 (GRCm39)	V160A	possibly damaging	Het
Stim1	A	T	7: 102,060,506 (GRCm39)	D183V	possibly damaging	Het
Strn3	A	T	12: 51,696,956 (GRCm39)	D258E	probably damaging	Het
Stxbp1	G	A	2: 32,692,825 (GRCm39)	A397V	probably benign	Het
Tacr3	A	G	3: 134,535,092 (GRCm39)	H20R	probably benign	Het
Tg	T	A	15: 66,718,923 (GRCm39)	D2626E	possibly damaging	Het
Tmem131	A	G	1: 36,858,265 (GRCm39)	M694T	possibly damaging	Het
Tpp1	G	A	7: 105,398,464 (GRCm39)	A284V	probably benign	Het
Trank1	A	T	9: 111,176,943 (GRCm39)	T327S	probably benign	Het
Trim14	A	G	4: 46,510,404 (GRCm39)	W274R	unknown	Het
Tshz2	A	T	2: 169,725,759 (GRCm39)	E118D	probably benign	Het
Tshz3	A	G	7: 36,470,980 (GRCm39)	T990A	probably damaging	Het
Usp40	T	C	1: 87,925,557 (GRCm39)	D224G	probably benign	Het
Vmn2r130	A	G	17: 23,282,650 (GRCm39)	Q110R	probably benign	Het
Zscan2	A	G	7: 80,525,890 (GRCm39)	K537R	probably 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
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
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'- AGATATAAGGGGCGAGATTCTTTTG -3'
(R):5'- TGGTGAGCTATCAGGCAAGTC -3'

Sequencing Primer
(F):5'- GGGCGAGATTCTTTTGTAAATATTG -3'
(R):5'- GCTATCAGGCAAGTCCAAATATAAG -3'

Posted On

2022-07-18