Mutagenetix > Incidental Mutation

Incidental Mutation 'R8975:Scn11a'

683391

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 #

R8975 (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 119758499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1393 (E1393G)

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: E1393G

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: E1393G

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: E1393G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,772,746	Y93N	probably damaging	Het
1700018F24Rik	A	G	5: 145,043,382	D47G	probably damaging	Het
4921507P07Rik	C	T	6: 50,584,411	R176H	probably damaging	Het
4930550C14Rik	A	T	9: 53,422,958	K167M	possibly damaging	Het
Abhd16b	A	G	2: 181,494,013	N236S	probably benign	Het
Ahnak	T	G	19: 9,012,737	V3795G	probably damaging	Het
Atg2b	A	T	12: 105,636,466	M1606K	probably damaging	Het
Bmt2	A	T	6: 13,630,612	I187K	probably damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Cep290	A	G	10: 100,513,920	N610D	possibly damaging	Het
Ctps	C	T	4: 120,549,546	D338N	probably benign	Het
Ctsz	A	T	2: 174,433,628	I118N	probably benign	Het
Depdc1b	A	G	13: 108,388,560	E483G	probably null	Het
Dhh	T	C	15: 98,898,095	S60G	probably damaging	Het
Dpagt1	T	C	9: 44,326,149		probably benign	Het
Dpy19l1	T	C	9: 24,447,806	K162R	probably damaging	Het
Dynap	T	C	18: 70,242,022	T41A	possibly damaging	Het
Dyrk4	T	C	6: 126,894,820	N162D	probably benign	Het
Eml5	T	A	12: 98,810,570	T1429S	probably damaging	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fer1l5	A	G	1: 36,417,816	D1625G	probably benign	Het
Frmd4b	G	A	6: 97,306,516	T484M	possibly damaging	Het
Gm11487	A	G	4: 73,401,930	L204P	probably damaging	Het
Gm11639	A	G	11: 105,063,589	K5090E	probably benign	Het
Hhat	T	C	1: 192,748,942	E33G	probably damaging	Het
Ifngr1	A	G	10: 19,609,612	D453G	probably damaging	Het
Itpr3	T	A	17: 27,116,654	I2246N	possibly damaging	Het
Larp4b	T	G	13: 9,145,501	I212S	probably damaging	Het
Lilra5	T	C	7: 4,238,637	V145A	probably benign	Het
Map1lc3a	A	G	2: 155,277,006	K30R	possibly damaging	Het
Mapk8ip1	A	G	2: 92,384,821	Y652H	probably damaging	Het
Med23	A	G	10: 24,904,436	E994G	probably benign	Het
Mep1b	A	T	18: 21,075,657	D30V	probably benign	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mki67	T	C	7: 135,698,400	D1635G	probably benign	Het
Mup3	A	T	4: 62,085,235	D132E	probably benign	Het
Myo15b	A	T	11: 115,890,954	T2830S	unknown	Het
Myocd	T	A	11: 65,178,461	H979L	probably damaging	Het
Nvl	A	T	1: 181,130,436	N260K	probably benign	Het
Olfr463	T	A	11: 87,893,819	Y35F	probably damaging	Het
Olfr47	T	A	6: 43,236,122	H171Q	probably benign	Het
Olfr715b	T	A	7: 107,106,457	T135S	probably benign	Het
Pdha2	C	A	3: 141,211,888		probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Phtf2	A	C	5: 20,764,251	V687G	probably damaging	Het
Plagl2	C	T	2: 153,232,426	G185D	possibly damaging	Het
Ppp1r3e	A	G	14: 54,876,489	V242A	probably benign	Het
Proser3	A	G	7: 30,540,033	S549P	possibly damaging	Het
Prrc2c	A	G	1: 162,706,061	V995A	unknown	Het
Ptpn13	A	G	5: 103,501,400	H223R	probably benign	Het
Rsf1	CG	CGTCGGCGGGG	7: 97,579,908		probably benign	Het
Sipa1l1	T	A	12: 82,432,838	S1432T	possibly damaging	Het
Slc10a5	G	C	3: 10,334,610	A330G	probably benign	Het
Slc2a5	A	C	4: 150,139,813	N293H	probably damaging	Het
Sptbn1	T	C	11: 30,123,869	E1400G	possibly damaging	Het
Stk33	T	A	7: 109,336,073	I171F	probably damaging	Het
Syne1	G	A	10: 5,211,945	H5450Y	probably benign	Het
Tbcd	G	C	11: 121,496,853		probably benign	Het
Tkt	T	A	14: 30,566,927		probably benign	Het
Tpra1	A	T	6: 88,911,744	M303L	probably benign	Het
Ubr3	T	C	2: 69,922,307	S303P	probably damaging	Het
Uqcrc1	T	C	9: 108,947,653	F341S	probably damaging	Het
Vmn1r223	T	C	13: 23,250,078	S281P	possibly damaging	Het
Vmn1r32	C	A	6: 66,553,205	A196S	probably benign	Het
Zfp644	G	T	5: 106,637,601	T360N	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
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
R8913:Scn11a	UTSW	9	119794028	missense	probably damaging	1.00
R8915:Scn11a	UTSW	9	119774297	nonsense	probably null
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'- AACAGAGCAGCCCTCCTTAG -3'
(R):5'- CAAGCCTTCGTGTTCGATTTGG -3'

Sequencing Primer
(F):5'- CTTTGGAGAAGCTGGACACACTC -3'
(R):5'- TCGATTTGGTCACAAGCCAG -3'

Posted On

2021-10-11