Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Scn11a'

678769

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 #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119794028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 582 (T582A)

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: T582A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: T582A

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: T582A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,264,813	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,161,264	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,756,839		probably null	Het
Asz1	T	C	6: 18,054,571	D411G	probably benign	Het
Atp8b2	A	G	3: 89,945,523	L144P		Het
Atxn7l3	G	T	11: 102,294,961	N13K	probably damaging	Het
Cap1	C	A	4: 122,867,652		probably null	Het
Cd244	T	A	1: 171,574,206	Y167N	probably damaging	Het
Cd244	A	T	1: 171,574,207	Y167F	probably damaging	Het
Cd302	A	G	2: 60,257,897	F92S	probably damaging	Het
Cep128	C	T	12: 91,364,447		probably null	Het
Csmd2	C	A	4: 128,523,558	P2770T		Het
Cyp4f40	G	T	17: 32,667,836	D122Y	probably benign	Het
Dnah14	A	G	1: 181,725,498	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,658,168	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,028,478	A381S	possibly damaging	Het
Fam208a	A	T	14: 27,466,188	N864Y	probably damaging	Het
Fzd8	A	G	18: 9,213,869	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,963,841	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Klhl23	G	A	2: 69,833,890	E528K	probably damaging	Het
Lama4	T	C	10: 39,106,043	V1756A	probably benign	Het
Lcn2	C	A	2: 32,387,146	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,501,440	S1633P	probably benign	Het
Map3k19	A	G	1: 127,822,626	V996A	probably benign	Het
Mettl9	T	G	7: 121,076,316	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,917,528		probably benign	Het
Myo1a	T	C	10: 127,705,841	V83A	probably benign	Het
Naxe	T	C	3: 88,058,358	T45A	probably benign	Het
Nckap1	A	G	2: 80,571,220	V40A	possibly damaging	Het
Nmt1	G	T	11: 103,057,445	R265L	probably damaging	Het
Nwd2	C	A	5: 63,806,097	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,491,248	A1334T	probably benign	Het
Olfr1209	A	G	2: 88,909,647	F249L	probably benign	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr1361	A	G	13: 21,659,104	F73S	probably damaging	Het
Olfr517	A	T	7: 108,868,602	V184E	probably damaging	Het
Olfr519	T	C	7: 108,893,529	R298G	probably damaging	Het
Oplah	T	C	15: 76,297,480	M1114V		Het
Pdlim5	A	T	3: 142,244,905	F582L	probably damaging	Het
Plcb2	A	G	2: 118,713,884	F671L	probably damaging	Het
Ppfibp1	T	A	6: 147,022,449	V725E	probably damaging	Het
Psmd11	C	T	11: 80,471,512	T396I	probably damaging	Het
Ptn	C	T	6: 36,741,341	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,022,526	D473G	probably benign	Het
Robo1	A	C	16: 72,904,734	I163L	probably damaging	Het
Ror1	A	C	4: 100,407,830	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,554,336	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Runx2	T	C	17: 44,608,282	T472A	probably benign	Het
Serpina3m	C	T	12: 104,389,218	A48V	probably benign	Het
Slc9a3r2	G	A	17: 24,644,865	S12L	probably benign	Het
Smim8	T	A	4: 34,769,056	D76V	possibly damaging	Het
Sqor	A	G	2: 122,799,886	K260R	probably benign	Het
Syde2	A	T	3: 146,002,393	I963F	probably damaging	Het
Tenm4	G	A	7: 96,702,745		probably benign	Het
Tm7sf3	A	T	6: 146,626,123	Y68*	probably null	Het
Tmtc2	T	A	10: 105,323,026	I569F	probably damaging	Het
Upf3a	G	A	8: 13,795,728	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,753,950	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,029,706	S768P	probably damaging	Het
Vmn2r60	A	T	7: 42,136,354	T194S	probably benign	Het
Zfhx2	A	G	14: 55,072,086	M852T	probably benign	Het
Zfp207	T	A	11: 80,385,918	D19E	probably damaging	Het
Zfp318	G	A	17: 46,411,773	M1567I	probably benign	Het
Zfp407	T	A	18: 84,560,528	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,585,489	C46S		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
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
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'- GATGTGACCTGTGCAGAACTC -3'
(R):5'- TGACTCAGAGCAAACACCTG -3'

Sequencing Primer
(F):5'- AAACCAAGGTTTCAGTTTGGG -3'
(R):5'- GAGCAAACACCTGATCATTCTTC -3'

Posted On

2021-08-02