Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Scn11a'

224164

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

040031-MU

Accession Numbers

Essential gene?

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

Stock #

R2022 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119811208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 207 (A207E)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070617
AA Change: A207E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: A207E

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

possibly damaging
Transcript: ENSMUST00000215718
AA Change: A207E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1cl	T	A	1: 65,014,698	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,347,227	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,365,282	M1K	probably null	Het
Atp4b	A	C	8: 13,387,477	N225K	possibly damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Cactin	C	T	10: 81,322,893	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418	H1423N	probably benign	Het
Chd9	T	C	8: 91,035,054	Y2256H	probably benign	Het
Chst8	A	G	7: 34,675,164	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,010,652		probably null	Het
Clec5a	A	T	6: 40,585,194	V12E	probably damaging	Het
Crebbp	C	T	16: 4,085,819	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,812,780		probably benign	Het
Dip2c	T	C	13: 9,551,800	L265P	probably damaging	Het
Dnah3	A	G	7: 119,951,242	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,027,422	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,276,221	S362P	probably damaging	Het
Dst	G	A	1: 34,166,291	V1025I	possibly damaging	Het
Dym	T	C	18: 75,080,250	V181A	probably benign	Het
Elk3	T	A	10: 93,265,677	I71F	probably damaging	Het
Epb41l4a	C	T	18: 33,921,840	S65N	probably benign	Het
Erap1	T	A	13: 74,666,508	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,472,665	I231F	probably damaging	Het
Fahd1	T	C	17: 24,849,840	I88V	probably benign	Het
Fam120b	C	T	17: 15,424,376	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Frem1	G	T	4: 82,913,558	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,447,597	T161S	probably benign	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gm597	A	T	1: 28,778,153	V266D	probably damaging	Het
Gm6309	C	T	5: 146,168,311	G264D	probably benign	Het
Gm9268	A	G	7: 43,024,030	N171D	probably benign	Het
Hsd11b1	T	C	1: 193,240,378	T124A	probably benign	Het
Ino80b	A	G	6: 83,124,372	M119T	probably damaging	Het
Kif3a	G	A	11: 53,570,581	V17M	probably damaging	Het
Krt40	T	A	11: 99,539,992	E285D	probably damaging	Het
Lair1	C	G	7: 4,063,064		probably null	Het
Lvrn	A	G	18: 46,866,436	T290A	possibly damaging	Het
Macf1	G	T	4: 123,472,730	A2746E	probably damaging	Het
Matn4	A	G	2: 164,400,653	V175A	probably damaging	Het
Mok	A	T	12: 110,811,823	D216E	probably benign	Het
Muc15	A	T	2: 110,731,476	T86S	probably benign	Het
Myo16	A	G	8: 10,272,633	K21R	probably benign	Het
Ncl	A	G	1: 86,356,955		probably null	Het
Nfrkb	C	T	9: 31,411,250	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,597,278	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,384,796	Y453N	probably damaging	Het
Notch4	T	C	17: 34,587,528	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,376,352	D515V	probably damaging	Het
Nsd1	T	C	13: 55,213,279	V20A	probably damaging	Het
Olfr825	T	C	10: 130,163,180	M49V	probably benign	Het
Opn4	T	A	14: 34,597,071	T186S	probably benign	Het
Pcdh15	T	G	10: 74,631,193	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,294,914	E24V	possibly damaging	Het
Pigg	A	T	5: 108,312,922		probably benign	Het
Plscr2	A	G	9: 92,295,594	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723	I76V	probably benign	Het
Prdm6	A	G	18: 53,464,959		probably benign	Het
Prex1	A	G	2: 166,575,614	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,225,458	R65*	probably null	Het
Prom1	G	T	5: 44,029,726	D396E	probably benign	Het
Ptcd3	C	T	6: 71,885,553	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Rab36	T	C	10: 75,052,474	I250T	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Serpinb3d	A	G	1: 107,078,452	V302A	probably benign	Het
Slc22a16	T	C	10: 40,591,877	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,716	N262D	possibly damaging	Het
Sptan1	C	T	2: 30,007,561	A1212V	probably damaging	Het
Ssr1	C	T	13: 37,989,549	A79T	probably damaging	Het
Tctex1d4	A	G	4: 117,128,307	E109G	possibly damaging	Het
Tiam1	T	A	16: 89,877,187	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,238,792	F280S	probably damaging	Het
Tmem72	T	C	6: 116,696,839	H106R	probably damaging	Het
Tnr	A	G	1: 159,852,022	I189V	probably benign	Het
Tpbpa	T	A	13: 60,940,222	N50I	probably benign	Het
Tshz1	T	A	18: 84,013,862	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,448,722	A131T	possibly damaging	Het
Usp16	T	C	16: 87,473,126	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,611,510	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,637,401	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,527,991	L60P	probably damaging	Het
Vps51	T	C	19: 6,071,582	E162G	probably benign	Het
Wdr66	G	A	5: 123,273,790	G495D	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,793,990		probably benign	Het
Zdhhc4	C	T	5: 143,321,783	R161H	probably damaging	Het
Zfp456	A	T	13: 67,366,497	C363*	probably null	Het
Zfp541	T	A	7: 16,082,185	S866T	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
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
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'- CAGCCACCACCTCCACCT -3'
(R):5'- AGTGAGGCAGAGACAGAAAGAT -3'

Sequencing Primer
(F):5'- GCCACCACCTCCACCTC -3'
(R):5'- GAGACAGAAAGATCCCCTGCTTG -3'

Posted On

2014-08-25