Mutagenetix > Incidental Mutation

Incidental Mutation 'R6180:Scn11a'

488008

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

044322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6180 (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 C at 119754867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1561 (I1561V)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably benign
Transcript: ENSMUST00000070617
AA Change: I1561V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: I1561V

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: I1561V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,273,258	M1142V	possibly damaging	Het
Adam39	A	G	8: 40,826,573	N667S	probably benign	Het
Ap4e1	T	A	2: 127,066,588	C1085*	probably null	Het
BC035044	A	T	6: 128,885,034		probably benign	Het
Capn11	T	C	17: 45,630,766	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,948,581	K218R	possibly damaging	Het
Ccno	T	C	13: 112,989,845	S283P	probably damaging	Het
Ccser2	A	T	14: 36,940,319	S303T	probably benign	Het
Cd53	T	A	3: 106,767,364	N129I	probably damaging	Het
Cd63	G	A	10: 128,912,064		probably null	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Daam2	A	G	17: 49,469,666	M797T	probably damaging	Het
Dmgdh	G	A	13: 93,752,286	V811I	possibly damaging	Het
Dpysl4	A	T	7: 139,090,334	T123S	probably damaging	Het
Erap1	A	G	13: 74,666,226	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,200,185	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,386,679	D167G	probably damaging	Het
Flrt2	C	T	12: 95,779,238	Q117*	probably null	Het
Ftsj3	A	T	11: 106,253,340		probably null	Het
Ggn	A	G	7: 29,173,049	Y618C	probably damaging	Het
Glis1	T	A	4: 107,627,513	S402T	probably benign	Het
Gm13762	T	G	2: 88,973,882	N3T	probably damaging	Het
Gm4781	T	A	10: 100,396,487		noncoding transcript	Het
Gm7168	T	A	17: 13,948,596	I75K	probably damaging	Het
Gm7298	C	T	6: 121,760,823	H348Y	probably benign	Het
Gria1	G	T	11: 57,242,792	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,216,547	T549M	probably damaging	Het
H2-M10.6	T	A	17: 36,814,286	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,346,103	V336I	probably benign	Het
Il12b	G	A	11: 44,412,626	A327T	probably benign	Het
Inpp4a	C	A	1: 37,380,102	P588T	probably benign	Het
Kctd12	C	A	14: 102,981,591	D284Y	probably damaging	Het
Kif28	C	A	1: 179,697,772		probably null	Het
Krt2	T	C	15: 101,815,044	N332S	probably benign	Het
Lama2	G	A	10: 26,981,499	T3118I	probably benign	Het
Lgi1	T	C	19: 38,264,956	L25P	probably damaging	Het
Lhx3	T	A	2: 26,201,491	M269L	probably benign	Het
Lmtk2	A	T	5: 144,175,342	E960V	probably damaging	Het
Loxl4	A	T	19: 42,608,352	D60E	probably damaging	Het
Lrp2	T	A	2: 69,503,524	N1458Y	possibly damaging	Het
Ltn1	A	T	16: 87,427,789	S16T	probably damaging	Het
Mllt6	G	A	11: 97,678,536	A875T	possibly damaging	Het
Mpp5	C	T	12: 78,817,310	H216Y	probably benign	Het
Mrgprb4	A	T	7: 48,198,826	I118N	probably damaging	Het
Mrps7	A	G	11: 115,604,881	T82A	possibly damaging	Het
Mug2	A	G	6: 122,079,606	E1170G	probably benign	Het
Nav2	A	G	7: 49,458,167	H647R	probably benign	Het
Nbeal2	T	C	9: 110,625,147	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,411,198	I644L	possibly damaging	Het
Olfr952	A	T	9: 39,426,712	Y120N	probably damaging	Het
Padi4	A	G	4: 140,756,473	M352T	possibly damaging	Het
Pcdhgc3	C	A	18: 37,806,937	D130E	probably damaging	Het
Pde6a	A	T	18: 61,284,092		probably null	Het
Pdpn	C	T	4: 143,299,222	G12R	probably damaging	Het
Pot1a	A	T	6: 25,771,621	D200E	probably benign	Het
Ppa1	A	T	10: 61,667,652	D236V	probably benign	Het
Ptprn2	T	A	12: 116,859,119	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,029,101	E297G	probably damaging	Het
Rgl1	T	C	1: 152,519,172	N750S	probably damaging	Het
Rinl	A	G	7: 28,796,940	N449D	probably benign	Het
Samd8	T	A	14: 21,775,025	H79Q	probably benign	Het
Slc39a12	T	C	2: 14,396,127	L105P	probably benign	Het
Slc7a12	A	T	3: 14,481,140		probably null	Het
Slco1a4	A	G	6: 141,817,820	I390T	possibly damaging	Het
Snta1	T	C	2: 154,377,182	N411S	probably benign	Het
Srgap2	T	C	1: 131,349,541	T323A	probably benign	Het
Ssh2	G	T	11: 77,453,465	V759L	probably benign	Het
St5	A	C	7: 109,556,888	D218E	probably benign	Het
Swap70	G	T	7: 110,269,981	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,458,770	C914F	probably benign	Het
Tbx3	A	G	5: 119,674,067	D144G	probably damaging	Het
Tgfbr2	T	C	9: 116,110,144	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,791,031		probably null	Het
Usf3	T	A	16: 44,221,105	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,399,871	C763*	probably null	Het
Vmn1r115	A	C	7: 20,844,715	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,475,329	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,491	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,305,085	V95A	probably damaging	Het
Vrk3	A	T	7: 44,769,611	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,511,643	A223E	probably benign	Het
Xirp2	T	C	2: 67,505,577		probably null	Het
Xpo7	T	C	14: 70,682,803	N642S	probably benign	Het
Ythdc1	G	A	5: 86,828,094	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,135,390	E316G	probably damaging	Het
Zfp488	T	A	14: 33,970,794	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,656,471	V994L	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
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'- CTGAAACCTGTTGGGCTTGG -3'
(R):5'- GAGGCTCTGGGATTGATGAC -3'

Sequencing Primer
(F):5'- ACTGGATGAACTGTGTTGCTTC -3'
(R):5'- GCTCTGGGATTGATGACATCTTCAAC -3'

Posted On

2017-10-10