Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Scn11a'

37764

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

038515-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119819862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 45 (A45V)

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: A45V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: A45V

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: A45V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	C	T	4: 144,520,049	T55I	probably benign	Het
Acod1	T	A	14: 103,054,982	I314N	probably damaging	Het
Actl11	T	A	9: 107,929,768	V430E	probably damaging	Het
Adam19	A	C	11: 46,127,392	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,752,570		probably benign	Het
Akap7	A	T	10: 25,271,552	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,628,981	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,801		probably benign	Het
Atm	T	A	9: 53,516,344	I489F	probably benign	Het
AU019823	T	C	9: 50,607,922	D130G	probably damaging	Het
Carmil1	T	C	13: 24,139,341	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,317,248	V939A	probably damaging	Het
Cel	A	C	2: 28,557,771	L377R	probably benign	Het
Clock	A	G	5: 76,226,985	V779A	unknown	Het
Cluap1	G	A	16: 3,929,918		probably benign	Het
Ctif	A	T	18: 75,521,818	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,252,932		probably benign	Het
Cytip	T	C	2: 58,148,246	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 24,864,815	M434T	probably benign	Het
Ddx47	A	G	6: 135,017,220	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,159,115	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,106,793		probably benign	Het
Drc7	A	T	8: 95,059,128	D204V	probably damaging	Het
Dsc3	A	G	18: 19,981,241	Y319H	probably damaging	Het
Eml6	T	C	11: 29,777,441	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,877,806	D365E	probably benign	Het
Ercc2	T	C	7: 19,386,708	I199T	possibly damaging	Het
Exd2	G	A	12: 80,491,240		probably benign	Het
F2	A	T	2: 91,633,233	I128N	probably damaging	Het
Fam219b	T	C	9: 57,538,876	L123P	probably damaging	Het
Fasn	A	G	11: 120,819,936	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,752,400	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,194,721	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,590,562	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241	T176A	probably benign	Het
Gm20530	T	G	17: 36,094,226		noncoding transcript	Het
Gm4787	A	T	12: 81,378,934	I150N	probably damaging	Het
Grip1	G	A	10: 120,075,471	S618N	probably benign	Het
Hdac9	T	C	12: 34,374,111	K454E	probably damaging	Het
Iars2	T	A	1: 185,287,156	I978F	possibly damaging	Het
Icosl	A	G	10: 78,075,322	Y299C	probably benign	Het
Idi1	T	C	13: 8,890,357	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,291	Q531P	probably damaging	Het
Itih4	T	A	14: 30,890,094		probably null	Het
Izumo4	A	T	10: 80,702,936	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,976,521		probably null	Het
Kynu	A	T	2: 43,679,881	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,592,776	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552	L273R	probably damaging	Het
Max	A	G	12: 76,938,587	L119P	probably benign	Het
Mphosph9	T	C	5: 124,298,829	N484S	probably benign	Het
Mrgprg	A	G	7: 143,765,055	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,421,338	I199F	probably benign	Het
Mtr	C	G	13: 12,222,154		probably null	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nptx2	A	G	5: 144,553,650		probably benign	Het
Nrip1	T	C	16: 76,292,707	Q654R	possibly damaging	Het
Ocm	A	G	5: 144,024,534	F30L	probably damaging	Het
Olfr1216	G	A	2: 89,013,288	R259W	probably damaging	Het
Olfr1223	A	C	2: 89,144,764	Y86*	probably null	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Olfr600	G	T	7: 103,346,711	D72E	probably damaging	Het
Oosp1	T	C	19: 11,690,969	M17V	probably benign	Het
Pax1	A	T	2: 147,366,147	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pkd1	C	A	17: 24,585,946	Q3190K	probably damaging	Het
Pkn1	A	C	8: 83,683,607		probably benign	Het
Plin5	T	C	17: 56,115,597	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,482,345	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 65,816,006	D334E	probably benign	Het
Ptov1	A	T	7: 44,863,449		probably null	Het
Rab22a	G	A	2: 173,661,459	V22M	probably damaging	Het
Rictor	T	A	15: 6,786,371		probably null	Het
Sart1	G	T	19: 5,380,531		probably benign	Het
Serpina5	A	G	12: 104,103,200	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,352,401	G212C	probably damaging	Het
Slc38a4	A	T	15: 97,008,454	M378K	probably damaging	Het
Spata22	T	A	11: 73,340,449	C176*	probably null	Het
Tmc3	G	A	7: 83,596,139	E131K	probably damaging	Het
Trappc10	A	T	10: 78,210,760		probably benign	Het
Uvrag	A	G	7: 98,887,973	F672L	probably benign	Het
Vmn1r121	A	G	7: 21,098,407	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,410,496	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 13,102,780	M56I	probably benign	Het
Wdr62	T	C	7: 30,242,874	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,430,714	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,725,336		probably benign	Het
Zfp607a	A	T	7: 27,879,212	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,701,188	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,774,434	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,880,624	D1644V	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
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
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'- TCCCCACCTGCATGAGAATGTACC -3'
(R):5'- TGCAGACTTCCAGGACACTATCCC -3'

Sequencing Primer
(F):5'- CCTGCATGAGAATGTACCTTATGG -3'
(R):5'- GACACTATCCCTTGAGAGTGAGC -3'

Posted On

2013-05-23