Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Scn11a'

251566

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

040414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119765529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1266 (Y1266F)

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: Y1266F

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: Y1266F

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: Y1266F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,393	T20I	probably benign	Het
Adamts2	C	T	11: 50,788,689	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,589,550		probably null	Het
Ankrd61	T	C	5: 143,897,076		probably benign	Het
Anpep	T	G	7: 79,838,291	Y506S	possibly damaging	Het
Aox2	T	A	1: 58,343,673	H1037Q	probably benign	Het
Auh	G	A	13: 52,898,719	R47*	probably null	Het
B4galt5	T	A	2: 167,306,638	M187L	probably benign	Het
Bub1	A	T	2: 127,801,423	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,626,448		probably null	Het
Cdh3	T	C	8: 106,552,407	L667P	probably damaging	Het
Cenpe	A	T	3: 135,241,073	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,073,341	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,997,374	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,033,987	P2120L	probably benign	Het
Clu	T	C	14: 65,975,003	V135A	probably damaging	Het
Cmip	T	A	8: 117,436,693	S388T	probably benign	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cox4i1	T	A	8: 120,673,290	V51E	possibly damaging	Het
Crym	T	C	7: 120,201,827	N33S	probably benign	Het
Ctcf	T	A	8: 105,671,384	V434E	probably damaging	Het
D430042O09Rik	T	A	7: 125,795,343	V197D	probably benign	Het
Daam1	G	A	12: 71,975,223	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,145,152	Y383C	probably benign	Het
Dock2	T	C	11: 34,312,485	T957A	probably benign	Het
Duox1	A	G	2: 122,333,138	D817G	probably benign	Het
Fads3	A	G	19: 10,056,454	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,528,854		probably null	Het
Fbxw21	C	A	9: 109,145,485	K322N	probably benign	Het
Fdxr	G	A	11: 115,271,980	T100I	probably damaging	Het
Galnt11	C	G	5: 25,247,612	P41A	probably damaging	Het
Glb1l	T	C	1: 75,201,829	T322A	probably damaging	Het
Gm6803	T	C	12: 88,018,488	Y95C	probably damaging	Het
Gm6871	T	A	7: 41,547,990	T149S	probably benign	Het
Gpr26	C	T	7: 131,967,094	T56I	probably damaging	Het
Grik4	C	A	9: 42,622,142	G361C	probably damaging	Het
Gsr	T	G	8: 33,680,288	D200E	probably benign	Het
Igsf5	T	A	16: 96,364,047	D7E	probably benign	Het
Inpp5e	T	A	2: 26,399,343	I522F	probably damaging	Het
Insm2	C	A	12: 55,600,311	T280K	probably benign	Het
Itih4	T	C	14: 30,895,478	V585A	probably damaging	Het
Knl1	A	T	2: 119,058,368	R17*	probably null	Het
Lag3	G	T	6: 124,911,309	L15I	possibly damaging	Het
Lepr	T	A	4: 101,790,896	S861T	probably damaging	Het
Mcur1	A	T	13: 43,544,465	Y320N	probably damaging	Het
Mgam	A	T	6: 40,759,783	D872V	probably damaging	Het
Mlycd	T	C	8: 119,407,707		probably null	Het
Mpl	C	A	4: 118,455,757	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,131,245	A4142S	probably damaging	Het
Myh1	T	A	11: 67,213,598	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,790,061	D11E	probably benign	Het
Neb	T	C	2: 52,195,521	I1521V	probably benign	Het
Notch1	A	G	2: 26,465,473	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,995,524	S236P	possibly damaging	Het
Olfr1056	A	G	2: 86,356,364	L6P	possibly damaging	Het
Olfr1181	T	C	2: 88,423,456	T190A	possibly damaging	Het
Olfr798	T	A	10: 129,625,915	I49L	probably benign	Het
Otogl	A	G	10: 107,874,500	L576P	probably damaging	Het
P2ry1	C	T	3: 61,003,479	T13M	probably damaging	Het
Pak6	A	T	2: 118,694,569	R559*	probably null	Het
Papd4	A	G	13: 93,184,218	L109S	probably damaging	Het
Parvb	A	T	15: 84,297,970	M234L	probably benign	Het
Pcdha11	T	C	18: 37,012,854	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,526,857	Y775*	probably null	Het
Pgam5	A	G	5: 110,266,003	L98P	probably damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Pkib	T	G	10: 57,728,109	D4E	probably damaging	Het
Plcb1	A	T	2: 135,260,508	I202F	probably benign	Het
Pold3	A	G	7: 100,121,383	V14A	probably damaging	Het
Prdm1	T	A	10: 44,446,807	T249S	probably benign	Het
Prpf39	T	A	12: 65,057,815	F551L	probably benign	Het
Prune2	A	G	19: 17,122,622	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,718,201	P889S	probably damaging	Het
Rassf2	A	T	2: 131,998,243		probably null	Het
Rnf185	A	G	11: 3,418,067	Y204H	probably benign	Het
Rpap1	A	G	2: 119,780,054		probably null	Het
Rufy3	T	C	5: 88,649,898	S645P	probably damaging	Het
Senp7	T	A	16: 56,151,362	H287Q	probably benign	Het
Sgsm3	T	C	15: 81,003,872		probably null	Het
Slc25a11	A	T	11: 70,645,832	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190	T175I	probably benign	Het
Slc26a3	T	A	12: 31,470,903	F702Y	probably damaging	Het
Smco2	T	A	6: 146,859,967	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,965,607	C90S	probably damaging	Het
Sspo	T	C	6: 48,464,364	S1835P	probably damaging	Het
Stk35	A	G	2: 129,801,515	T140A	probably damaging	Het
Syngr1	C	T	15: 80,111,740	T160M	probably damaging	Het
Tgfb1i1	A	G	7: 128,248,913		probably null	Het
Thoc1	T	A	18: 9,977,947	V296E	probably damaging	Het
Timp2	C	T	11: 118,310,586	C75Y	probably damaging	Het
Tlr1	T	C	5: 64,925,296	Y646C	probably damaging	Het
Tprn	G	A	2: 25,268,928	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,135,490	I74L	probably benign	Het
Trbv5	T	A	6: 41,062,621	Y53*	probably null	Het
Trpm5	T	C	7: 143,088,919	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,955,567	D88G	probably damaging	Het
Ucp2	A	T	7: 100,498,413	I200F	probably benign	Het
Unc45a	G	A	7: 80,338,875	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,360,870	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,223,572	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,733,967	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,257,474	M225K	probably benign	Het
Wdr24	A	T	17: 25,824,299	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,624,783	T529S	probably benign	Het
Zc3h4	A	G	7: 16,434,339	H791R	unknown	Het
Zfp24	A	G	18: 24,017,870	L73P	probably damaging	Het
Zfp616	T	C	11: 74,083,295	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,677,430		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,677,431		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
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
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'- ATTAGCATCACATTCCCTGCAAG -3'
(R):5'- ATGTGCATCTGGAGCTTAGC -3'

Sequencing Primer
(F):5'- ACATTCCCTGCAAGCATTGG -3'
(R):5'- CATCTGGAGCTTAGCAAGGGACC -3'

Posted On

2014-12-04