Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Scn11a'

601677

Institutional Source

Beutler Lab

Gene Symbol

Scn11a

Ensembl Gene

ENSMUSG00000034115

Gene Name

sodium channel, voltage-gated, type XI, alpha

Synonyms

NaN, NSS2, NaT, SNS2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119784111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 804 (N804K)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070617] [ENSMUST00000215718]

AlphaFold

Q9R053

Predicted Effect

probably damaging
Transcript: ENSMUST00000070617
AA Change: N804K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: N804K

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
Pfam:Ion_trans	128	409	1.1e-72	PFAM
low complexity region	475	487	N/A	INTRINSIC
Pfam:Ion_trans	574	810	4e-57	PFAM
Pfam:Na_trans_assoc	814	1030	4.1e-29	PFAM
Pfam:Ion_trans	1034	1300	5.7e-66	PFAM
Pfam:Ion_trans	1346	1595	3e-58	PFAM
low complexity region	1683	1694	N/A	INTRINSIC
low complexity region	1733	1744	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215718
AA Change: N804K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,304,221	R342S	probably benign	Het
Aatk	C	T	11: 120,021,455	V55I	probably benign	Het
Abhd10	T	A	16: 45,737,553	I128L	probably benign	Het
Abraxas1	T	A	5: 100,806,310	M325L	probably benign	Het
Adgrb2	C	A	4: 130,014,560	L1087I	probably damaging	Het
Adgrb2	C	T	4: 130,014,969	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,013,875	Y1741*	probably null	Het
Ap1g2	A	T	14: 55,099,724	V718D	probably benign	Het
Asph	A	T	4: 9,475,015	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,414,757	I869V	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1e	T	C	1: 154,398,406	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,977,812	S413P	probably benign	Het
Casz1	G	A	4: 148,946,076	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,487,942	V32I	probably benign	Het
Ccdc166	A	G	15: 75,981,015	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,549,603	N508S	probably benign	Het
Ccdc187	A	G	2: 26,276,174	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,926,663		probably null	Het
Cep120	T	C	18: 53,723,103	D414G	probably benign	Het
Dcp1a	G	T	14: 30,479,721	A34S	probably damaging	Het
Ddit3	C	T	10: 127,295,793	T70I	probably benign	Het
Dlg2	C	G	7: 91,940,017	A313G	probably damaging	Het
Dnah9	A	T	11: 66,025,211	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,763,865	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,396,491	L141P	probably benign	Het
Dsc2	A	T	18: 20,050,132	D76E	probably damaging	Het
Dusp7	C	A	9: 106,369,130	N111K	probably benign	Het
Fam193a	A	G	5: 34,465,653	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,263,166	L347P	probably damaging	Het
Frem1	T	C	4: 83,014,008	E152G	probably damaging	Het
Galnt2	G	T	8: 124,329,788	D234Y	probably damaging	Het
Hist1h1d	C	T	13: 23,554,991		probably benign	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Ihh	T	C	1: 74,946,645	D227G	possibly damaging	Het
Il1rap	T	A	16: 26,698,847	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,570,539	L57*	probably null	Het
Kif2b	A	G	11: 91,576,126	S444P	probably damaging	Het
Lmf1	T	G	17: 25,662,591	I538S	probably benign	Het
Mical2	A	G	7: 112,345,307	Y948C	probably damaging	Het
Mr1	G	A	1: 155,130,636	Q322*	probably null	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mup6	A	G	4: 60,004,884	T100A	probably benign	Het
Mybpc1	T	A	10: 88,558,667	D266V	probably damaging	Het
Myocos	T	C	1: 162,647,494	N48S	unknown	Het
Naf1	G	A	8: 66,889,376	G551E	probably damaging	Het
Nrarp	A	G	2: 25,181,238	N43S	possibly damaging	Het
Olfr1253	A	G	2: 89,751,944	S295P	possibly damaging	Het
Olfr19	A	C	16: 16,673,573	M136R	probably damaging	Het
Olfr472	G	A	7: 107,903,023	C102Y	probably benign	Het
Olfr832	T	A	9: 18,945,009	Y120*	probably null	Het
Olfr983	T	A	9: 40,092,712	M85L	probably damaging	Het
Padi3	T	A	4: 140,798,142	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,491,440	M305V	probably damaging	Het
Pde6a	T	A	18: 61,281,509		probably null	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prph	A	G	15: 99,057,872	T446A	probably damaging	Het
Pwwp2b	T	C	7: 139,255,324	V227A	probably benign	Het
Rev3l	T	C	10: 39,823,902	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,052,191	S243G	probably benign	Het
Ripor3	A	T	2: 167,989,426	I485N	probably benign	Het
Rnpc3	G	T	3: 113,629,951	P35Q	probably damaging	Het
Sbpl	G	T	17: 23,953,262	Q228K	unknown	Het
Selenoo	A	G	15: 89,096,816	T453A	probably damaging	Het
Sez6	C	T	11: 77,976,902	P882S	probably damaging	Het
Skint5	C	T	4: 113,942,726	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,263,161	T115P	probably benign	Het
Slc1a2	A	G	2: 102,743,956	D237G	probably benign	Het
Spidr	T	C	16: 16,114,865	S184G	probably damaging	Het
Stag3	A	T	5: 138,301,443	Q872L	probably benign	Het
Suds3	T	C	5: 117,115,749		probably benign	Het
Sv2c	T	A	13: 95,986,820	K382*	probably null	Het
Taf2	T	C	15: 55,065,930	I77V	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,472,200	C100F	probably damaging	Het
Tek	T	A	4: 94,827,716	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,744	P246Q	probably damaging	Het
Tgif1	A	T	17: 70,849,608		probably null	Het
Tlr11	A	T	14: 50,361,828	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,792,127	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,564,088	*1108K	probably null	Het
Tnks	A	T	8: 34,873,028	Y479N	probably benign	Het
Trip12	C	T	1: 84,760,806	G776D	probably damaging	Het
Tssk1	A	G	16: 17,894,447	E32G	probably benign	Het
Ube2o	T	C	11: 116,543,910	D575G	probably damaging	Het
Uckl1	A	T	2: 181,574,667	M16K	probably damaging	Het
Zfp948	A	T	17: 21,587,723	E392D	probably benign	Het
Zmynd8	G	A	2: 165,842,831	T167I	probably damaging	Het

Other mutations in Scn11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Scn11a	APN	9	119770506	missense	probably benign	0.00
IGL00272:Scn11a	APN	9	119816603	missense	probably damaging	0.98
IGL00332:Scn11a	APN	9	119769916	missense	probably damaging	1.00
IGL00533:Scn11a	APN	9	119774381	missense	probably damaging	1.00
IGL00972:Scn11a	APN	9	119793938	missense	probably benign	0.44
IGL01338:Scn11a	APN	9	119784161	splice site	probably benign
IGL01534:Scn11a	APN	9	119780822	missense	probably benign	0.27
IGL01838:Scn11a	APN	9	119758583	missense	probably damaging	1.00
IGL01991:Scn11a	APN	9	119819904	missense	probably damaging	0.97
IGL02057:Scn11a	APN	9	119765470	missense	probably damaging	1.00
IGL02290:Scn11a	APN	9	119774442	missense	probably damaging	0.97
IGL02454:Scn11a	APN	9	119758544	missense	probably benign	0.00
IGL02517:Scn11a	APN	9	119792398	missense	probably damaging	1.00
IGL02567:Scn11a	APN	9	119804489	missense	probably damaging	0.99
IGL02587:Scn11a	APN	9	119805684	missense	probably damaging	1.00
IGL03069:Scn11a	APN	9	119789963	missense	probably benign	0.16
IGL03171:Scn11a	APN	9	119819847	missense	probably benign	0.00
Kleinie	UTSW	9	119803503	missense	probably benign	0.16
H8441:Scn11a	UTSW	9	119807910	missense	probably damaging	1.00
PIT4449001:Scn11a	UTSW	9	119769948	missense	probably damaging	1.00
R0304:Scn11a	UTSW	9	119819862	missense	probably benign	0.00
R0519:Scn11a	UTSW	9	119790119	missense	probably damaging	1.00
R0658:Scn11a	UTSW	9	119811160	missense	probably benign	0.41
R0828:Scn11a	UTSW	9	119755007	missense	probably benign	0.00
R0893:Scn11a	UTSW	9	119803330	splice site	probably null
R0932:Scn11a	UTSW	9	119807810	missense	probably damaging	1.00
R1061:Scn11a	UTSW	9	119795663	missense	probably damaging	0.98
R1161:Scn11a	UTSW	9	119755057	nonsense	probably null
R1162:Scn11a	UTSW	9	119805644	splice site	probably benign
R1310:Scn11a	UTSW	9	119755057	nonsense	probably null
R1589:Scn11a	UTSW	9	119769807	missense	probably damaging	1.00
R1681:Scn11a	UTSW	9	119804412	missense	possibly damaging	0.46
R1781:Scn11a	UTSW	9	119755082	missense	probably damaging	1.00
R1812:Scn11a	UTSW	9	119780865	nonsense	probably null
R1901:Scn11a	UTSW	9	119779036	nonsense	probably null
R1978:Scn11a	UTSW	9	119780795	nonsense	probably null
R1985:Scn11a	UTSW	9	119754678	missense	probably benign	0.19
R2022:Scn11a	UTSW	9	119811208	missense	possibly damaging	0.88
R2072:Scn11a	UTSW	9	119811208	missense	possibly damaging	0.88
R2098:Scn11a	UTSW	9	119792494	missense	possibly damaging	0.67
R2163:Scn11a	UTSW	9	119755025	missense	probably damaging	1.00
R2250:Scn11a	UTSW	9	119758602	missense	probably benign	0.01
R2373:Scn11a	UTSW	9	119813186	missense	probably benign	0.43
R2508:Scn11a	UTSW	9	119765529	missense	probably damaging	1.00
R3757:Scn11a	UTSW	9	119803503	missense	probably benign	0.16
R3767:Scn11a	UTSW	9	119784049	missense	probably damaging	1.00
R3770:Scn11a	UTSW	9	119784049	missense	probably damaging	1.00
R4089:Scn11a	UTSW	9	119795653	splice site	probably null
R4092:Scn11a	UTSW	9	119789970	missense	probably benign	0.03
R4247:Scn11a	UTSW	9	119807886	missense	probably damaging	1.00
R4279:Scn11a	UTSW	9	119754362	missense	probably benign	0.25
R4299:Scn11a	UTSW	9	119765506	missense	probably damaging	0.97
R4403:Scn11a	UTSW	9	119795667	missense	probably damaging	1.00
R4468:Scn11a	UTSW	9	119754987	missense	probably damaging	1.00
R4542:Scn11a	UTSW	9	119755134	missense	probably damaging	1.00
R4644:Scn11a	UTSW	9	119815203	splice site	probably null
R4739:Scn11a	UTSW	9	119754561	missense	probably benign	0.39
R4809:Scn11a	UTSW	9	119819870	missense	probably benign	0.00
R4954:Scn11a	UTSW	9	119758659	missense	possibly damaging	0.84
R5012:Scn11a	UTSW	9	119780878	missense	probably benign	0.31
R5044:Scn11a	UTSW	9	119819831	missense	probably damaging	0.98
R5222:Scn11a	UTSW	9	119815202	splice site	probably null
R5224:Scn11a	UTSW	9	119754792	missense	probably damaging	1.00
R5400:Scn11a	UTSW	9	119769908	missense	probably damaging	0.97
R5555:Scn11a	UTSW	9	119755238	missense	probably damaging	1.00
R5711:Scn11a	UTSW	9	119789924	missense	probably damaging	1.00
R5950:Scn11a	UTSW	9	119811124	missense	probably damaging	1.00
R5984:Scn11a	UTSW	9	119784016	missense	probably benign
R6057:Scn11a	UTSW	9	119765448	missense	probably damaging	1.00
R6104:Scn11a	UTSW	9	119795678	missense	probably damaging	1.00
R6180:Scn11a	UTSW	9	119754867	missense	probably benign	0.00
R6892:Scn11a	UTSW	9	119806969	missense	possibly damaging	0.53
R6908:Scn11a	UTSW	9	119792426	missense	probably damaging	1.00
R6949:Scn11a	UTSW	9	119765514	missense	probably benign	0.04
R7112:Scn11a	UTSW	9	119754809	missense	probably damaging	1.00
R7232:Scn11a	UTSW	9	119759916	missense	probably damaging	1.00
R7261:Scn11a	UTSW	9	119819833	missense	probably damaging	0.99
R7265:Scn11a	UTSW	9	119815265	missense	probably damaging	1.00
R7302:Scn11a	UTSW	9	119806951	missense	probably benign	0.03
R7391:Scn11a	UTSW	9	119795717	missense	probably damaging	1.00
R7441:Scn11a	UTSW	9	119758626	missense	probably benign	0.01
R7479:Scn11a	UTSW	9	119759875	missense	probably benign	0.38
R7608:Scn11a	UTSW	9	119815313	splice site	probably null
R7768:Scn11a	UTSW	9	119815272	missense	probably benign	0.13
R7785:Scn11a	UTSW	9	119816556	missense	probably benign	0.00
R7794:Scn11a	UTSW	9	119765514	missense	probably damaging	0.99
R7884:Scn11a	UTSW	9	119804551	missense	probably benign	0.01
R7988:Scn11a	UTSW	9	119765437	missense	probably damaging	0.97
R8049:Scn11a	UTSW	9	119755083	missense	probably damaging	1.00
R8127:Scn11a	UTSW	9	119804512	missense	probably damaging	1.00
R8274:Scn11a	UTSW	9	119803482	missense	probably benign
R8344:Scn11a	UTSW	9	119781970	missense	probably benign	0.00
R8346:Scn11a	UTSW	9	119778981	missense	probably damaging	1.00
R8511:Scn11a	UTSW	9	119789915	missense	probably damaging	0.99
R8819:Scn11a	UTSW	9	119816520	missense	probably benign	0.19
R8820:Scn11a	UTSW	9	119816520	missense	probably benign	0.19
R8837:Scn11a	UTSW	9	119792344	missense	probably damaging	1.00
R8913:Scn11a	UTSW	9	119794028	missense	probably damaging	1.00
R8915:Scn11a	UTSW	9	119774297	nonsense	probably null
R8975:Scn11a	UTSW	9	119758499	missense	probably damaging	1.00
R9156:Scn11a	UTSW	9	119759923	missense	possibly damaging	0.75
R9222:Scn11a	UTSW	9	119781947	missense	probably damaging	0.98
R9355:Scn11a	UTSW	9	119755094	missense	probably damaging	1.00
R9486:Scn11a	UTSW	9	119795708	missense	possibly damaging	0.86
R9712:Scn11a	UTSW	9	119790010	nonsense	probably null
R9766:Scn11a	UTSW	9	119755115	missense	probably damaging	1.00
Z1088:Scn11a	UTSW	9	119755242	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119754998	missense	possibly damaging	0.94
Z1177:Scn11a	UTSW	9	119819820	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAGGACCTTGTATCCAGGG -3'
(R):5'- CTTGCCACTTCCTGTGTAGG -3'

Sequencing Primer
(F):5'- GTGTCTCTACTCTCACCAGCAAAG -3'
(R):5'- TAGGAAGGCATTGTTGGGAG -3'

Posted On

2019-12-03