Mutagenetix > Incidental Mutation

Incidental Mutation 'R0519:Scn11a'

48402

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

038712-MU

Accession Numbers

Essential gene?

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

Stock #

R0519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119790119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 719 (L719P)

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: L719P

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: L719P

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: L719P

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

Meta Mutation Damage Score

0.9535

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.6%
20x: 93.2%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,548,201	R168G	probably benign	Het
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2810004N23Rik	C	T	8: 124,839,929	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,662,962	S349P	possibly damaging	Het
Ackr4	A	G	9: 104,099,451	V99A	probably benign	Het
Asxl3	A	G	18: 22,523,520	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,741,410	E46G	probably benign	Het
Cdcp2	A	G	4: 107,107,192		probably benign	Het
Clasrp	A	G	7: 19,584,164		probably benign	Het
Clip2	A	G	5: 134,516,151	V383A	probably benign	Het
Cntln	C	T	4: 85,005,053		probably benign	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Csmd2	A	C	4: 128,487,005	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,563,208	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,558,095	R755Q	probably benign	Het
Dsn1	A	T	2: 156,998,713		probably benign	Het
Dtd2	T	C	12: 52,004,959		probably benign	Het
Dync1i1	A	G	6: 6,027,399	T602A	probably benign	Het
Ercc6	A	C	14: 32,526,842	D450A	probably damaging	Het
Fgf12	A	T	16: 28,189,628	V104D	probably benign	Het
Frem1	A	T	4: 82,970,633		probably null	Het
Gcgr	G	T	11: 120,536,156	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Hapln1	A	G	13: 89,584,716		probably benign	Het
Hmgn3	T	C	9: 83,112,248	E40G	probably damaging	Het
Hsdl1	G	A	8: 119,565,711	A255V	probably damaging	Het
Hyls1	T	C	9: 35,561,203	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122		probably benign	Het
Kif14	C	A	1: 136,469,147	A397E	probably damaging	Het
Lcmt2	A	T	2: 121,139,344		probably null	Het
Lifr	T	C	15: 7,177,580	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,082,852	K209E	possibly damaging	Het
Macf1	G	A	4: 123,471,320	T1651I	probably benign	Het
Mapk4	T	C	18: 73,970,321	D39G	probably damaging	Het
Mbl1	A	G	14: 41,158,565	M137V	probably damaging	Het
Mcm10	G	A	2: 5,008,545	S92L	probably benign	Het
Mug1	A	G	6: 121,851,424	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,810,786		probably null	Het
Neu3	G	A	7: 99,823,317		probably benign	Het
Nsd1	A	G	13: 55,312,835	T2395A	probably benign	Het
Olfr1034	A	T	2: 86,047,067	Y195F	probably benign	Het
Olfr3	T	A	2: 36,812,615	H159L	probably damaging	Het
Olfr750	T	A	14: 51,071,157	I79F	probably damaging	Het
Olfr854	A	T	9: 19,566,949	I145N	probably benign	Het
Osgepl1	T	C	1: 53,321,096	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,516,032	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,622,107		probably benign	Het
Ptprq	A	C	10: 107,538,920		probably benign	Het
Pus10	T	A	11: 23,711,201	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,708,299	F756L	probably damaging	Het
Slc2a2	G	A	3: 28,718,816	V253I	possibly damaging	Het
Slc39a4	A	T	15: 76,615,138	N192K	probably benign	Het
Soat1	T	A	1: 156,441,246	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,031,190	A858V	probably benign	Het
Tcim	T	C	8: 24,438,635	T88A	possibly damaging	Het
Tecta	G	A	9: 42,347,892		probably benign	Het
Tgm5	C	A	2: 121,048,895	L553F	probably damaging	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmem214	A	C	5: 30,869,668	M1L	probably null	Het
Togaram1	T	C	12: 64,966,002		probably benign	Het
Topaz1	C	A	9: 122,749,479	L485I	possibly damaging	Het
Ttn	T	C	2: 76,718,282		probably benign	Het
Ube2o	A	G	11: 116,546,459		probably null	Het
Ubr7	T	A	12: 102,768,206	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,582,328	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,573,121	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,439,503	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,685,773	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,188,173	A118T	probably benign	Het
Zp2	A	G	7: 120,138,149	I272T	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
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
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'- GCTTCCCGACCACCATGATCAG -3'
(R):5'- GCCTTCTACACCAGCTCAATGCAG -3'

Sequencing Primer
(F):5'- TGATCAGCACAAAGACGATGAC -3'
(R):5'- CAGCTCAATGCAGACGTG -3'

Posted On

2013-06-12