Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Scn11a'

564632

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: 0.107) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119819833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 55 (D55N)

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: D55N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D55N

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: D55N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

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

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,368,700	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,759,824	I281R	probably damaging	Het
Adamts2	A	T	11: 50,786,597	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,667,435	T339I	probably benign	Het
Aff1	T	C	5: 103,828,379	S448P	probably damaging	Het
Agbl2	A	T	2: 90,788,944	S38C	possibly damaging	Het
Akap7	C	T	10: 25,271,518	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,880,366	F677L	probably benign	Het
Atf6b	G	T	17: 34,650,818	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,769,373	Y114C	probably damaging	Het
Casp7	T	A	19: 56,436,333	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 134,227,112		probably null	Het
Ccdc162	T	C	10: 41,561,140	T1758A	probably benign	Het
Cfap74	C	A	4: 155,465,374	P155T	unknown	Het
Champ1	A	G	8: 13,878,517	D225G	possibly damaging	Het
Chrng	A	T	1: 87,207,240		probably null	Het
Cnksr1	T	C	4: 134,235,773		probably null	Het
Col15a1	G	A	4: 47,269,088	G582D	probably benign	Het
Cwc25	A	G	11: 97,757,759	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,657,231	Y261H	probably damaging	Het
Defa29	A	G	8: 21,326,802		probably null	Het
Diaph3	A	C	14: 86,965,457	C666G	probably benign	Het
Dlx2	A	G	2: 71,544,675	Y282H	probably damaging	Het
Dsc3	A	T	18: 19,980,757	Y369*	probably null	Het
Dtwd1	A	G	2: 126,158,504	N120S	probably benign	Het
Dysf	G	A	6: 84,193,010	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,560,215	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418	I12N	probably benign	Het
Fam171a2	T	A	11: 102,438,074	N620Y	probably damaging	Het
Fam71a	T	C	1: 191,164,111	S112G	unknown	Het
Gfpt2	A	T	11: 49,823,251	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,862,410	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,568,699	C23G	probably damaging	Het
Gtpbp4	A	T	13: 8,987,918	H228Q	probably benign	Het
Hdac7	A	G	15: 97,806,534	V500A	probably benign	Het
Hykk	T	G	9: 54,920,726	M83R	possibly damaging	Het
Idi1	A	G	13: 8,886,895	I101V	probably benign	Het
Irs2	A	T	8: 11,007,018	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,905,306	V12A	probably benign	Het
Jak2	A	G	19: 29,310,985	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,354,517	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,481,297	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,587,465	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,677,514	S29*	probably null	Het
Lpcat3	T	A	6: 124,698,087	F57I	probably benign	Het
Manf	T	C	9: 106,891,889	T4A	probably benign	Het
Map2k3	G	A	11: 60,945,567		probably null	Het
Myh14	G	A	7: 44,624,337	Q1329*	probably null	Het
Myocd	T	C	11: 65,187,596	S458G	probably damaging	Het
Ncor2	T	C	5: 125,110,079		probably null	Het
Ndufs8	A	T	19: 3,911,606	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,664,140	K32R	unknown	Het
Nlrp3	T	G	11: 59,548,446	V283G	possibly damaging	Het
Nme3	A	G	17: 24,897,063		probably null	Het
Olfr937	C	T	9: 39,060,208	V153M	possibly damaging	Het
Olfr98	A	G	17: 37,263,185	F160L	probably benign	Het
Parvg	T	C	15: 84,331,096		probably null	Het
Peg10	T	A	6: 4,756,591	M389K	unknown	Het
Phf23	G	T	11: 69,999,265	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,374,411	Y929H	probably damaging	Het
Prss39	A	G	1: 34,500,288	D203G	probably damaging	Het
Prss54	G	T	8: 95,559,739	D235E	probably benign	Het
Prtg	T	A	9: 72,907,835	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,705,742	I160T	probably damaging	Het
Scn10a	C	A	9: 119,609,724	C1692F	probably damaging	Het
Secisbp2	G	T	13: 51,682,462	V768F	probably damaging	Het
Spag16	T	C	1: 70,299,621	I426T	possibly damaging	Het
Sspo	G	A	6: 48,450,077	V250M	possibly damaging	Het
Strbp	A	T	2: 37,641,137		probably null	Het
Sv2c	C	T	13: 96,088,301	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,670,487	S330L	not run	Het
Tigd2	T	A	6: 59,211,067	D306E	probably benign	Het
Tmem5	A	T	10: 122,088,917	D293E	probably benign	Het
Trrap	C	T	5: 144,845,477	P3278S	possibly damaging	Het
Ttc37	A	G	13: 76,113,579	T138A	probably benign	Het
Vdac1	A	T	11: 52,374,934	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,142	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,811,310	K615*	probably null	Het
Vps11	A	G	9: 44,354,503	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,952,979	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,436,655	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,609,345	D1576E	possibly 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
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
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'- TACTGACCCCAAGACTGGATTC -3'
(R):5'- AGCTGTGTTTCTGCCACAC -3'

Sequencing Primer
(F):5'- TTCAGAGAACCAGTAGTGCAC -3'
(R):5'- CACACAGTGTCTGAGCCAAGG -3'

Posted On

2019-06-26