Mutagenetix > Incidental Mutation

Incidental Mutation 'R7391:Scn11a'

573449

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 #

R7391 (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 119795717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 513 (D513G)

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: D513G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D513G

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: D513G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1102

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	A	T	10: 18,646,259	I673K	probably benign	Het
Arhgap32	C	A	9: 32,181,939	T196K	probably benign	Het
Azi2	T	A	9: 118,050,892		probably null	Het
B3gnt2	A	T	11: 22,836,482	C235*	probably null	Het
BC080695	T	A	4: 143,572,306	L273H	probably damaging	Het
Capn5	C	T	7: 98,131,219	V315M	probably benign	Het
Ccl24	T	A	5: 135,570,822	R111S	possibly damaging	Het
Cdk9	A	G	2: 32,712,071	V45A	probably damaging	Het
Cep162	G	T	9: 87,248,494	S21*	probably null	Het
Chil3	T	A	3: 106,164,180	Y56F	probably damaging	Het
Ctr9	T	A	7: 111,043,171	L368*	probably null	Het
Ctss	A	G	3: 95,529,541	E45G	probably benign	Het
Cyp2c29	A	T	19: 39,307,767	Q214L	probably null	Het
Cyp2d34	T	A	15: 82,618,386	N183I	probably benign	Het
Dhx29	T	A	13: 112,962,859	N1139K	probably benign	Het
Ermp1	C	A	19: 29,627,068		probably null	Het
Ermp1	T	A	19: 29,627,069		probably null	Het
Evi2	A	G	11: 79,515,667	S361P	probably benign	Het
Ext2	T	A	2: 93,730,267	K518M	probably damaging	Het
Fgl1	A	C	8: 41,210,446	M15R	probably benign	Het
Fsip2	T	G	2: 82,990,319	D5465E	possibly damaging	Het
Hdlbp	A	T	1: 93,431,061	I256N	possibly damaging	Het
Hmmr	G	T	11: 40,707,786		probably null	Het
Hnrnpu	T	C	1: 178,337,078	Q165R	unknown	Het
Homer3	G	A	8: 70,289,484	A132T	probably benign	Het
Ikbkap	T	G	4: 56,781,212	Q487P	probably benign	Het
Ikbkap	C	A	4: 56,781,211	Q487H	possibly damaging	Het
Kcnb1	T	C	2: 167,105,450	R493G	probably damaging	Het
Kcnn3	A	T	3: 89,609,471	T396S	probably benign	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krtap4-1	A	G	11: 99,627,984	S67P	unknown	Het
Lama4	G	T	10: 39,087,387		probably null	Het
Lrrtm2	T	A	18: 35,212,765	I495F	possibly damaging	Het
Mical2	A	T	7: 112,320,609	E442V	probably damaging	Het
Muc16	C	T	9: 18,639,536	V5154I	probably benign	Het
Nav3	A	T	10: 109,703,456	M2028K	probably benign	Het
Ncr1	T	A	7: 4,344,471	W249R	possibly damaging	Het
Neurod6	T	C	6: 55,679,631	D7G	probably damaging	Het
Nwd1	A	G	8: 72,662,418	E158G	probably damaging	Het
Olfr132	A	T	17: 38,131,050	F47L	probably benign	Het
Olfr1328	A	T	4: 118,934,001	N282K	possibly damaging	Het
Olfr1381	T	C	11: 49,552,544	S266P	probably damaging	Het
Olfr1395	A	G	11: 49,148,979	T241A	probably damaging	Het
Olfr33	T	C	7: 102,713,982	N144D	probably benign	Het
Padi2	A	G	4: 140,937,955	D457G	probably benign	Het
Parn	C	A	16: 13,668,006		probably null	Het
Pcdh1	C	T	18: 38,202,785	E266K	possibly damaging	Het
Pigr	A	G	1: 130,849,566	D703G	probably damaging	Het
Ppm1f	T	A	16: 16,914,234	S183T	probably benign	Het
Ppp2r5b	T	A	19: 6,228,514	Q455L	probably benign	Het
Ptpn13	C	T	5: 103,540,981	S880L	probably damaging	Het
R3hdm4	T	C	10: 79,911,109	K240R	probably benign	Het
Rin1	T	C	19: 5,050,860	M1T	probably null	Het
Rundc3b	T	A	5: 8,559,455	M170L	probably benign	Het
Ryr3	A	T	2: 112,780,977		probably null	Het
Slc27a2	C	A	2: 126,553,162	P3Q	unknown	Het
Slc4a8	A	G	15: 100,784,862	I187M	probably damaging	Het
Slc6a11	A	T	6: 114,238,461	I441F	probably benign	Het
Stx2	C	T	5: 128,988,803	R263Q	probably damaging	Het
Svep1	A	T	4: 58,145,185	W427R	probably damaging	Het
Tes	T	A	6: 17,096,167	H51Q	probably damaging	Het
Thnsl2	T	C	6: 71,131,930	D299G	probably damaging	Het
Tmem30b	T	C	12: 73,545,928	S138G	probably benign	Het
Tmprss11c	T	A	5: 86,237,791	H274L	probably damaging	Het
Trim10	G	A	17: 36,869,881	M1I	probably null	Het
Ttc30a1	T	C	2: 75,980,015	K575E	probably benign	Het
Unc13b	A	G	4: 43,216,459	I253V	probably benign	Het
Unc80	A	G	1: 66,695,528	S3305G	probably benign	Het
Ush2a	TCACC	TC	1: 188,962,008		probably benign	Het
Virma	A	G	4: 11,508,099	D267G	probably damaging	Het
Vmn1r46	C	T	6: 89,976,625	S152L	probably benign	Het
Wdr90	T	C	17: 25,846,528	N1621S	probably benign	Het
Zfhx3	G	A	8: 108,947,843	A1842T	probably damaging	Het
Zfp583	A	G	7: 6,316,499	S505P	probably damaging	Het
Zfp608	T	C	18: 54,897,547	Y1107C	possibly damaging	Het
Zfp616	A	G	11: 74,085,329	H808R	probably benign	Het
Zfp677	T	C	17: 21,398,391	F570S	possibly damaging	Het
Zfp85	A	T	13: 67,749,291	Y221N	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
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
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'- TGCGTGCTCCTGAGATATGG -3'
(R):5'- GGACCTCTCCGTATAAAGTGCTC -3'

Sequencing Primer
(F):5'- CTGTCTTTGAAAGATAGCACAGTGG -3'
(R):5'- AGTGCTCCTCATCTTCATTTAAAG -3'

Posted On

2019-09-13