Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Scn11a'

598397

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: 0.107) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119815272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 141 (I141F)

Ref Sequence

ENSEMBL: ENSMUSP00000065466 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably benign
Transcript: ENSMUST00000070617
AA Change: I141F

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: I141F

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 benign
Transcript: ENSMUST00000215718
AA Change: I141F

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	T	19: 58,792,742	Y25N	probably damaging	Het
Actn2	A	G	13: 12,282,594	V479A	possibly damaging	Het
Acy1	G	A	9: 106,433,618	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,431,666	D797E	probably benign	Het
Ank1	C	T	8: 23,097,997	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,988,647	T262A	probably benign	Het
Ap4e1	A	T	2: 127,046,934	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,567,088	I367V	probably benign	Het
Arl6	A	G	16: 59,632,336	I33T	probably damaging	Het
Asgr2	T	C	11: 70,105,416	I228T	probably damaging	Het
Aspn	A	G	13: 49,557,395	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,339,771	F868L	probably benign	Het
Cacna1i	G	A	15: 80,381,188	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,932,409	Q1778K	probably benign	Het
Cep250	T	C	2: 155,986,009	L42S		Het
Clnk	C	A	5: 38,768,158	R100L	probably damaging	Het
Cpvl	A	G	6: 53,896,491	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,706,697	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,380,939	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,137,474	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,721,095	R4576S	possibly damaging	Het
Dzip1	A	T	14: 118,879,498	D775E	probably benign	Het
Erich3	T	A	3: 154,748,331	M381K	probably benign	Het
Fam193a	A	G	5: 34,465,791	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,928,984	L228P	probably benign	Het
Ggt7	A	T	2: 155,506,501	M77K	possibly damaging	Het
Gm12800	A	C	4: 101,911,813	I454L	probably benign	Het
Gpr26	T	A	7: 131,974,348	I247K	probably damaging	Het
Grip1	A	G	10: 120,038,397	T745A	probably damaging	Het
Gusb	A	T	5: 130,000,405	H178Q	probably benign	Het
Hacl1	T	C	14: 31,616,480	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,390,240	H380R	possibly damaging	Het
Icam4	T	A	9: 21,029,994	L143Q	probably damaging	Het
Ikbkb	T	A	8: 22,695,236	I43F	probably damaging	Het
Ints11	G	T	4: 155,886,939	K303N	probably damaging	Het
Itpa	A	T	2: 130,667,916	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205		probably null	Het
Kat6a	T	A	8: 22,903,212	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,820,603	V2806I	unknown	Het
Loxhd1	T	A	18: 77,384,941	F1051L	probably damaging	Het
Map2	A	G	1: 66,414,483	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,748	Y261*	probably null	Het
Muc4	A	C	16: 32,756,194	M2023L	unknown	Het
Mybpc1	C	A	10: 88,542,372	G688V	probably damaging	Het
Myo3a	A	G	2: 22,241,143	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,481,379	T683A	possibly damaging	Het
Nup160	A	G	2: 90,700,116	I444V	probably damaging	Het
Olfr1132	T	C	2: 87,635,313	M145V	probably benign	Het
Olfr1291-ps1	A	C	2: 111,499,853	K200N	possibly damaging	Het
Olfr329-ps	A	T	11: 58,542,640	S292T	probably damaging	Het
Olfr329-ps	A	T	11: 58,542,867	M216K	possibly damaging	Het
Pcdha1	A	G	18: 36,932,167	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,022,351	S708P	probably damaging	Het
Pira2	A	T	7: 3,841,697	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,054,860		probably null	Het
Pla2g6	T	C	15: 79,297,314	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,448,946	D763E	probably benign	Het
Psg18	A	T	7: 18,346,028	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,626,588	V369F	probably damaging	Het
Rasal3	T	C	17: 32,396,793	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,330,621	R195Q	probably benign	Het
Rnf216	A	T	5: 143,098,444	M1K	probably null	Het
Rspry1	C	A	8: 94,629,841	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,436,745	L156F	probably benign	Het
Sirt2	A	T	7: 28,782,859	T198S	probably benign	Het
Slc2a1	A	G	4: 119,132,447	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,947,618	F407S	possibly damaging	Het
Slc38a4	A	C	15: 97,008,664	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,856,871	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,739,965	I274N	probably damaging	Het
Smchd1	C	T	17: 71,411,911	G821D	probably damaging	Het
Spata33	T	C	8: 123,214,407	F65S	unknown	Het
Stx19	A	G	16: 62,822,204	T128A	probably benign	Het
Tas2r103	T	C	6: 133,036,849	M85V	probably benign	Het
Tas2r117	C	T	6: 132,803,522	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,902,900	I233N	possibly damaging	Het
Uba6	C	A	5: 86,152,920	W192L	probably benign	Het
Ube3a	T	C	7: 59,288,777	I761T	probably damaging	Het
Unc80	T	C	1: 66,510,595	S671P	possibly damaging	Het
Usp8	A	G	2: 126,751,123	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 19,812,052	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,220,220	T302I	probably benign	Het
Vmn2r50	G	A	7: 10,037,371	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,418,693	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,363,722	V51M	probably benign	Het
Xdh	T	C	17: 73,939,836	T78A	probably benign	Het
Zfp442	T	C	2: 150,408,321	K554E	possibly 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
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'- AATACTTTTGGGGCTCGAGG -3'
(R):5'- CACTGACTTGTCCAGAGCTG -3'

Sequencing Primer
(F):5'- ATATCTATCTGAGGACGCCCTTGAG -3'
(R):5'- CTGGCTCTCACAGGGAAGAGATAC -3'

Posted On

2019-11-26