Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Scn11a'

645241

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: 0.097) question?

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119778981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1028 (C1028F)

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: C1028F

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: C1028F

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: C1028F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,142,772	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876	M299K	probably damaging	Het
Acox1	G	T	11: 116,178,273	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
App	G	T	16: 85,103,257	R102S	unknown	Het
Chd1l	T	C	3: 97,562,643	N856D	probably benign	Het
Col11a1	A	G	3: 114,212,169	D1650G	unknown	Het
Cx3cl1	T	C	8: 94,780,540	V391A	probably damaging	Het
Cyp11b2	T	C	15: 74,851,768	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,577,168	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,858,802	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 134,348,756	T396I	possibly damaging	Het
Dusp4	C	A	8: 34,807,938	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,665,792	A4499T	probably benign	Het
Eno2	T	C	6: 124,763,795	D266G	possibly damaging	Het
Eomes	T	C	9: 118,484,968	S694P	probably benign	Het
Fam105a	A	G	15: 27,664,558	Y76H	probably damaging	Het
Fam71f1	G	A	6: 29,334,031	C296Y	probably damaging	Het
Fmo4	A	G	1: 162,794,223	V473A	probably benign	Het
Fmo5	T	A	3: 97,645,646	N303K	probably damaging	Het
Gdf10	A	G	14: 33,931,845	E103G	probably benign	Het
Gjb6	T	C	14: 57,124,802	M1V	probably null	Het
Gm17067	A	G	7: 42,708,649	L143P	probably damaging	Het
Helz	A	G	11: 107,672,573	D1613G	unknown	Het
Hmgn3	T	C	9: 83,111,106	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,954,751	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,583,828	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,588,569	C16*	probably null	Het
Kidins220	T	G	12: 25,036,534	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,061,365	K124E	unknown	Het
Mast4	A	G	13: 102,751,478	V1141A	probably damaging	Het
Myb	A	T	10: 21,126,237	M735K	probably benign	Het
Myo3a	T	A	2: 22,558,422		probably null	Het
Naa60	G	A	16: 3,900,643	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,682,167	I461V	probably benign	Het
Nphp4	C	A	4: 152,561,321	A1262D	probably damaging	Het
Obscn	A	T	11: 59,085,181	V2040E	possibly damaging	Het
Olfr350	A	G	2: 36,850,339	I98V	probably benign	Het
Olfr459	A	G	6: 41,772,123	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,305,467	F63I	possibly damaging	Het
Phc1	C	T	6: 122,325,815	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,090,246	V949M	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prmt8	T	A	6: 127,711,847	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547	I513V	probably damaging	Het
Rad17	A	C	13: 100,645,173	S39A	possibly damaging	Het
Rbck1	T	C	2: 152,318,780	Y412C	probably damaging	Het
Rfc3	C	A	5: 151,645,635	M152I	probably damaging	Het
Sfmbt2	C	A	2: 10,461,425	P357Q	probably damaging	Het
Slc22a6	C	G	19: 8,621,805	R267G	probably damaging	Het
St3gal1	G	A	15: 67,113,662	R48C	probably damaging	Het
Stmnd1	A	G	13: 46,299,460	N204S	probably benign	Het
Tdrd1	T	C	19: 56,842,267	V244A	probably benign	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,825,391	T518A	probably benign	Het
Xdh	T	C	17: 73,913,943	D597G	probably damaging	Het
Zfp457	G	A	13: 67,293,798	Q238*	probably null	Het
Zfp647	T	C	15: 76,911,728	D244G	probably damaging	Het
Zfp870	T	A	17: 32,883,869	E162V	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
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
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'- CAGTGAACACCCTCCCTTTG -3'
(R):5'- TGCAGTTCACAAGGCAAGGG -3'

Sequencing Primer
(F):5'- TCCAAGAGCATCCTTTACCAGTG -3'
(R):5'- TTCACAAGGCAAGGGACATG -3'

Posted On

2020-09-02