Mutagenetix > Incidental Mutations

Incidental Mutation 'R7332:Scn7a'

569277

Institutional Source

Beutler Lab

Gene Symbol

Scn7a

Ensembl Gene

ENSMUSG00000034810

Gene Name

sodium channel, voltage-gated, type VII, alpha

Synonyms

NaG, Nav2, Nav2.3, Nax, Scn6a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66673425-66784914 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 66692554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 935 (W935*)

Ref Sequence

ENSEMBL: ENSMUSP00000042405 (fasta)

Gene Model

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

AlphaFold

B1AYL1

Predicted Effect

probably null
Transcript: ENSMUST00000042792
AA Change: W935*

SMART Domains

Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: W935*

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,918,121	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,169,224	S21A	probably benign	Het
Cacna1e	T	C	1: 154,725,801	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,575,764	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,429,828	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,413,932	L104Q	probably null	Het
Clk1	G	A	1: 58,412,694	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,478,062	D426V	probably damaging	Het
Cmya5	A	G	13: 93,092,553	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,380,165	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,149,357	K5R	probably benign	Het
Csmd2	A	G	4: 128,419,567	T1346A		Het
Csrp1	G	T	1: 135,739,411	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,993,007	I184T	probably damaging	Het
Egfl7	C	A	2: 26,590,713	R128S	probably benign	Het
Fggy	A	T	4: 95,623,482	N157I	probably damaging	Het
Gldc	A	T	19: 30,116,526	L697Q	probably damaging	Het
Gm10436	T	C	12: 88,176,417	T339A	possibly damaging	Het
Gm4952	T	A	19: 12,627,009	Y262N	probably damaging	Het
Gsap	T	A	5: 21,290,121	M821K	probably benign	Het
Hps1	T	C	19: 42,777,912		probably null	Het
Hsbp1l1	T	C	18: 80,236,823		probably benign	Het
Igfbp7	G	A	5: 77,351,956	T220I	probably damaging	Het
Ints3	T	C	3: 90,415,512	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,739,329	F199S	possibly damaging	Het
Kirrel	T	C	3: 87,088,398	I410V	probably benign	Het
Llgl2	T	C	11: 115,848,299	V332A	probably damaging	Het
Lrrc27	A	G	7: 139,242,745	I517M	probably damaging	Het
Mas1	T	C	17: 12,842,219	T106A	probably benign	Het
Mast4	T	A	13: 102,751,424	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 92,850,152	D601G	probably damaging	Het
Mycbp2	A	G	14: 103,156,453	S2891P	probably damaging	Het
Mycbp2	T	A	14: 103,197,357	I2217F	probably damaging	Het
Naip6	A	G	13: 100,300,701	V438A	possibly damaging	Het
Olfr1284	A	G	2: 111,379,393	H131R	not run	Het
Pdf	T	C	8: 107,048,541	R20G	probably benign	Het
Pfdn2	T	C	1: 171,356,594	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,896,255	N795K		Het
Ppip5k1	A	T	2: 121,311,969	V1333D	probably damaging	Het
Prss44	A	T	9: 110,815,462	I213F	probably damaging	Het
Rbm47	A	G	5: 66,026,214	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,130,696	T253S	probably benign	Het
Rdh1	A	G	10: 127,759,885		probably benign	Het
Sec24b	T	C	3: 130,041,393	N52S	probably benign	Het
Serpinb5	A	T	1: 106,872,361	I94L	probably benign	Het
Setx	T	C	2: 29,146,626	V1041A	probably benign	Het
Slco3a1	G	A	7: 74,318,484	A496V	possibly damaging	Het
Spag5	T	A	11: 78,313,379	L486*	probably null	Het
Spink5	T	C	18: 43,982,250	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,611,054	Y65C	probably benign	Het
Ssh2	T	A	11: 77,453,523	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,213,386	S265L	probably damaging	Het
Syne2	T	A	12: 75,967,755		probably null	Het
Tctn1	A	T	5: 122,261,484	D92E	probably damaging	Het
Tiam2	A	G	17: 3,453,369	I940M	probably damaging	Het
Tmeff2	T	C	1: 50,979,440	W194R	unknown	Het
Tomm20	T	C	8: 126,937,153	T94A	probably benign	Het
Ucn2	A	G	9: 108,986,464	N98S	probably benign	Het
V1rd19	A	T	7: 24,003,318	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,390,518	L17P	probably benign	Het
Vmn2r61	A	G	7: 42,260,110	T20A	probably benign	Het
Wdr59	G	A	8: 111,494,354	T182I		Het
Zfp40	A	T	17: 23,176,181	C477*	probably null	Het
Zfp68	A	G	5: 138,606,568	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,609,636		probably null	Het
Zfp846	T	G	9: 20,594,225	N460K	probably benign	Het
Zim1	T	C	7: 6,677,353	Y437C	probably damaging	Het

Other mutations in Scn7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Scn7a	APN	2	66683327	splice site	probably benign
IGL00432:Scn7a	APN	2	66741982	nonsense	probably null
IGL00720:Scn7a	APN	2	66676044	missense	possibly damaging	0.67
IGL00783:Scn7a	APN	2	66692564	missense	probably damaging	0.99
IGL00784:Scn7a	APN	2	66692564	missense	probably damaging	0.99
IGL00926:Scn7a	APN	2	66684131	missense	probably benign	0.06
IGL00963:Scn7a	APN	2	66703945	splice site	probably benign
IGL01099:Scn7a	APN	2	66684238	missense	probably damaging	1.00
IGL01326:Scn7a	APN	2	66752260	missense	probably benign	0.13
IGL01538:Scn7a	APN	2	66703852	missense	probably benign
IGL01624:Scn7a	APN	2	66751925	missense	probably benign	0.07
IGL01794:Scn7a	APN	2	66675509	missense	probably benign
IGL02100:Scn7a	APN	2	66675499	makesense	probably null
IGL02326:Scn7a	APN	2	66700048	missense	probably benign	0.00
IGL02472:Scn7a	APN	2	66752314	missense	probably damaging	1.00
IGL02528:Scn7a	APN	2	66700175	missense	probably damaging	1.00
IGL02798:Scn7a	APN	2	66713875	missense	probably benign	0.00
IGL03026:Scn7a	APN	2	66676098	missense	probably damaging	0.99
IGL03071:Scn7a	APN	2	66699947	missense	possibly damaging	0.89
IGL03080:Scn7a	APN	2	66697816	missense	probably benign	0.01
IGL03180:Scn7a	APN	2	66676234	missense	possibly damaging	0.94
IGL03337:Scn7a	APN	2	66675960	missense	probably benign	0.00
alert	UTSW	2	66680246	nonsense	probably null
glimmer	UTSW	2	66743703	missense	probably damaging	0.96
Uptick	UTSW	2	66700049	nonsense	probably null
PIT4514001:Scn7a	UTSW	2	66684179	missense	probably damaging	1.00
R0004:Scn7a	UTSW	2	66687795	missense	possibly damaging	0.81
R0076:Scn7a	UTSW	2	66714037	missense	probably benign	0.04
R0230:Scn7a	UTSW	2	66726284	missense	probably damaging	1.00
R0463:Scn7a	UTSW	2	66675740	missense	probably benign	0.05
R0846:Scn7a	UTSW	2	66697600	missense	possibly damaging	0.71
R1237:Scn7a	UTSW	2	66680295	missense	probably damaging	0.98
R1282:Scn7a	UTSW	2	66700849	missense	probably damaging	0.98
R1467:Scn7a	UTSW	2	66689558	missense	probably benign	0.01
R1467:Scn7a	UTSW	2	66689558	missense	probably benign	0.01
R1501:Scn7a	UTSW	2	66700163	missense	probably benign	0.37
R1672:Scn7a	UTSW	2	66697600	missense	possibly damaging	0.71
R1690:Scn7a	UTSW	2	66675943	missense	probably damaging	0.99
R1712:Scn7a	UTSW	2	66705103	missense	probably benign	0.05
R1758:Scn7a	UTSW	2	66680183	missense	probably benign	0.00
R1758:Scn7a	UTSW	2	66700887	missense	probably damaging	0.97
R1775:Scn7a	UTSW	2	66680955	missense	probably benign	0.02
R1848:Scn7a	UTSW	2	66684013	critical splice donor site	probably null
R1851:Scn7a	UTSW	2	66680291	missense	probably benign
R1919:Scn7a	UTSW	2	66699973	missense	probably damaging	1.00
R1932:Scn7a	UTSW	2	66676102	missense	probably damaging	1.00
R1945:Scn7a	UTSW	2	66675980	missense	probably damaging	1.00
R1970:Scn7a	UTSW	2	66684289	missense	possibly damaging	0.89
R1998:Scn7a	UTSW	2	66683269	missense	probably damaging	0.99
R2008:Scn7a	UTSW	2	66687747	missense	possibly damaging	0.82
R2038:Scn7a	UTSW	2	66737436	missense	probably damaging	1.00
R2113:Scn7a	UTSW	2	66675968	missense	probably damaging	1.00
R2128:Scn7a	UTSW	2	66697986	missense	probably damaging	0.99
R2163:Scn7a	UTSW	2	66675956	missense	probably damaging	0.97
R2421:Scn7a	UTSW	2	66726302	splice site	probably benign
R2446:Scn7a	UTSW	2	66692658	missense	probably damaging	0.98
R2922:Scn7a	UTSW	2	66700207	splice site	probably benign
R3015:Scn7a	UTSW	2	66699896	missense	probably benign	0.08
R3034:Scn7a	UTSW	2	66682808	missense	probably damaging	1.00
R3419:Scn7a	UTSW	2	66700895	frame shift	probably null
R3429:Scn7a	UTSW	2	66700895	frame shift	probably null
R3430:Scn7a	UTSW	2	66700895	frame shift	probably null
R3434:Scn7a	UTSW	2	66675503	missense	probably benign	0.01
R3803:Scn7a	UTSW	2	66680246	nonsense	probably null
R3831:Scn7a	UTSW	2	66697684	missense	probably damaging	0.96
R3833:Scn7a	UTSW	2	66697684	missense	probably damaging	0.96
R4017:Scn7a	UTSW	2	66741985	missense	probably damaging	1.00
R4244:Scn7a	UTSW	2	66742001	missense	probably benign	0.00
R4245:Scn7a	UTSW	2	66742001	missense	probably benign	0.00
R4276:Scn7a	UTSW	2	66684063	missense	probably damaging	0.97
R4307:Scn7a	UTSW	2	66675755	missense	possibly damaging	0.47
R4327:Scn7a	UTSW	2	66737471	missense	probably damaging	1.00
R4353:Scn7a	UTSW	2	66676436	missense	probably benign	0.00
R4721:Scn7a	UTSW	2	66684185	missense	probably damaging	1.00
R4722:Scn7a	UTSW	2	66700884	missense	possibly damaging	0.95
R4781:Scn7a	UTSW	2	66703760	missense	possibly damaging	0.95
R4792:Scn7a	UTSW	2	66726248	missense	probably damaging	1.00
R5362:Scn7a	UTSW	2	66699998	missense	probably damaging	1.00
R5437:Scn7a	UTSW	2	66676346	missense	probably damaging	1.00
R5729:Scn7a	UTSW	2	66741957	critical splice donor site	probably null
R5777:Scn7a	UTSW	2	66692569	missense	probably damaging	1.00
R5785:Scn7a	UTSW	2	66697568	missense	possibly damaging	0.79
R5821:Scn7a	UTSW	2	66743703	missense	probably damaging	0.96
R5830:Scn7a	UTSW	2	66714051	nonsense	probably null
R5877:Scn7a	UTSW	2	66699873	nonsense	probably null
R5881:Scn7a	UTSW	2	66675526	missense	probably benign	0.01
R5967:Scn7a	UTSW	2	66675713	missense	probably damaging	1.00
R5988:Scn7a	UTSW	2	66726214	nonsense	probably null
R6077:Scn7a	UTSW	2	66697596	missense	probably damaging	1.00
R6135:Scn7a	UTSW	2	66703900	missense	probably benign
R6242:Scn7a	UTSW	2	66700766	missense	probably benign	0.00
R6264:Scn7a	UTSW	2	66675526	missense	possibly damaging	0.93
R6291:Scn7a	UTSW	2	66700114	missense	probably damaging	0.98
R6544:Scn7a	UTSW	2	66684100	missense	probably damaging	1.00
R6770:Scn7a	UTSW	2	66729184	splice site	probably null
R6997:Scn7a	UTSW	2	66703803	missense	probably damaging	1.00
R7014:Scn7a	UTSW	2	66741959	missense	probably null	1.00
R7126:Scn7a	UTSW	2	66757286	missense	possibly damaging	0.80
R7129:Scn7a	UTSW	2	66700193	missense	probably benign	0.14
R7176:Scn7a	UTSW	2	66676288	missense	probably damaging	1.00
R7185:Scn7a	UTSW	2	66687795	missense	possibly damaging	0.81
R7276:Scn7a	UTSW	2	66757162	missense	probably damaging	1.00
R7421:Scn7a	UTSW	2	66675532	missense	probably benign	0.07
R7488:Scn7a	UTSW	2	66757230	missense	probably benign	0.16
R7636:Scn7a	UTSW	2	66743828	missense	possibly damaging	0.67
R7685:Scn7a	UTSW	2	66676192	missense	probably damaging	1.00
R7711:Scn7a	UTSW	2	66700877	missense	probably damaging	1.00
R7813:Scn7a	UTSW	2	66676345	missense	probably damaging	1.00
R7833:Scn7a	UTSW	2	66676150	missense	probably damaging	1.00
R7914:Scn7a	UTSW	2	66699950	missense	probably damaging	0.97
R7953:Scn7a	UTSW	2	66757326	missense	possibly damaging	0.90
R7970:Scn7a	UTSW	2	66675829	missense	probably damaging	1.00
R8061:Scn7a	UTSW	2	66692594	missense	probably damaging	1.00
R8121:Scn7a	UTSW	2	66700859	missense	probably damaging	1.00
R8172:Scn7a	UTSW	2	66675847	missense	possibly damaging	0.90
R8209:Scn7a	UTSW	2	66700860	missense	possibly damaging	0.88
R8226:Scn7a	UTSW	2	66700860	missense	possibly damaging	0.88
R8288:Scn7a	UTSW	2	66675974	missense	probably damaging	1.00
R8431:Scn7a	UTSW	2	66703820	missense	possibly damaging	0.62
R8678:Scn7a	UTSW	2	66743697	splice site	probably benign
R8745:Scn7a	UTSW	2	66680182	missense	probably benign
R8781:Scn7a	UTSW	2	66737431	missense	probably benign	0.03
R8848:Scn7a	UTSW	2	66700049	nonsense	probably null
R8878:Scn7a	UTSW	2	66675855	missense	probably damaging	1.00
R8943:Scn7a	UTSW	2	66694862	synonymous	silent
R8991:Scn7a	UTSW	2	66684244	missense	possibly damaging	0.65
R9147:Scn7a	UTSW	2	66684163	missense	possibly damaging	0.89
R9148:Scn7a	UTSW	2	66684163	missense	possibly damaging	0.89
R9402:Scn7a	UTSW	2	66680112	missense	probably damaging	1.00
X0060:Scn7a	UTSW	2	66689682	missense	probably benign	0.01
X0066:Scn7a	UTSW	2	66680192	missense	probably benign
Z1088:Scn7a	UTSW	2	66713951	missense	probably damaging	0.98
Z1177:Scn7a	UTSW	2	66752269	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAGAAAATGAACTCTGGTG -3'
(R):5'- CGTCTTCCAAATCCACAAGTTCTG -3'

Sequencing Primer
(F):5'- TGACATTTCCTGAGGCTG -3'
(R):5'- AGAGCATCTGCATCAGAATCAG -3'

Posted On

2019-09-13