Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Scn11a'

562566

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: 0.081) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119759916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1308 (E1308V)

Ref Sequence

ENSEMBL: ENSMUSP00000065466 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably damaging
Transcript: ENSMUST00000070617
AA Change: E1308V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: E1308V

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: E1308V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,503,631	S41T	possibly damaging	Het
4930433I11Rik	G	A	7: 40,993,179	G91S	probably damaging	Het
Adam21	T	G	12: 81,560,556	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,777,152		probably null	Het
Angpt4	T	C	2: 151,929,540	S259P	possibly damaging	Het
Aqr	A	C	2: 114,105,882	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,940,323	G266D	probably benign	Het
Bop1	A	G	15: 76,453,346	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc5l	A	G	17: 45,427,937		probably null	Het
Cfap46	C	A	7: 139,617,577	R2126L	unknown	Het
Chek2	T	C	5: 110,860,915	V304A	probably damaging	Het
Cntnap4	T	A	8: 112,665,099		probably null	Het
Ctps	C	A	4: 120,548,124	G374C	probably damaging	Het
Defa27	A	T	8: 21,315,609	I22F	probably damaging	Het
Dnah14	T	C	1: 181,757,363	S3220P	probably damaging	Het
Dopey2	T	G	16: 93,760,485		probably null	Het
Dpysl5	G	A	5: 30,792,298	V471I	probably benign	Het
Duoxa1	T	A	2: 122,305,247	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,215,678	E85G	possibly damaging	Het
Eogt	T	A	6: 97,119,983	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279	V800E	probably damaging	Het
Evi5l	A	G	8: 4,205,906	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,281,661	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,962,622	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,436,940	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,711,181	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380	G233S	probably damaging	Het
Gm29106	C	T	1: 118,199,561	P328S	probably damaging	Het
Hgfac	G	T	5: 35,046,914	R507L	probably damaging	Het
Jakmip3	A	G	7: 139,007,626	K153R	probably benign	Het
Kcnc1	T	A	7: 46,427,959	V395E	probably damaging	Het
Krt6b	T	C	15: 101,678,142	D304G	probably damaging	Het
Ldha	T	C	7: 46,850,899	Y174H	probably benign	Het
Lgi4	G	A	7: 31,067,351	V268M	possibly damaging	Het
Lpar3	T	G	3: 146,241,306		probably null	Het
Lrp3	T	C	7: 35,206,052	D103G	probably damaging	Het
March5	G	A	19: 37,217,314		probably null	Het
Muc5b	A	T	7: 141,866,129	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,348,846	D741N	probably damaging	Het
Naglu	A	T	11: 101,076,426	I401F	probably damaging	Het
Ncam2	T	A	16: 81,512,871	N416K	probably damaging	Het
Ncan	A	G	8: 70,112,088	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709	L203*	probably null	Het
Olfr714	T	A	7: 107,073,855	I9K	probably benign	Het
Onecut2	T	A	18: 64,341,562	W395R	probably damaging	Het
Pak6	T	A	2: 118,693,522	V386E	probably damaging	Het
Pias2	A	G	18: 77,133,235	S396G	probably benign	Het
Plxna2	T	A	1: 194,712,260	L483H	probably damaging	Het
Prss36	G	T	7: 127,935,591	R484S	probably benign	Het
Ptpn21	A	T	12: 98,688,737	V657E	probably benign	Het
Rassf2	T	C	2: 131,996,412	E318G	probably damaging	Het
Rp1	A	C	1: 4,228,601	S623A	unknown	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Serpina3c	A	T	12: 104,149,512	S258T	possibly damaging	Het
Slit3	A	G	11: 35,610,689	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,317,311	A162E	possibly damaging	Het
Sox13	A	T	1: 133,384,391		probably null	Het
Sox8	G	T	17: 25,567,540	S396R	probably benign	Het
Sult2a3	A	T	7: 14,082,760	F164L	possibly damaging	Het
Susd2	T	C	10: 75,639,851	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,678,847	T14P	probably damaging	Het
Tcf25	T	A	8: 123,401,061		probably null	Het
Tenm3	G	A	8: 48,235,935	R2206W	probably damaging	Het
Tep1	A	G	14: 50,844,332	L471P	unknown	Het
Ticrr	A	T	7: 79,693,742	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,973,499	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
U2surp	A	G	9: 95,493,717	V141A	probably benign	Het
Unc79	T	A	12: 103,134,475	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,865,871	D235G	probably benign	Het
Vcam1	T	C	3: 116,125,979	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,742	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,557	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,518,372	S160T	probably benign	Het
Zar1	G	A	5: 72,580,951	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,132,985	M204K	probably benign	Het
Zhx1	T	C	15: 58,053,069	T594A	probably benign	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
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
R7818:Scn11a	UTSW	9	119784111	missense	probably damaging	0.97
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'- CTAAGAACTTGGGTGCATCTTG -3'
(R):5'- GAGTCCAGATTCTTTCAAGTTCC -3'

Sequencing Primer
(F):5'- TCACGAATGACTGCTCTGAG -3'
(R):5'- TCAAGTTCCTTTGGAAGAGGAAC -3'

Posted On

2019-06-26