Mutagenetix > Incidental Mutation

Incidental Mutation 'R8344:Scn11a'

645103

Institutional Source

Beutler Lab

Gene Symbol

Scn11a

Ensembl Gene

ENSMUSG00000034115

Gene Name

sodium channel, voltage-gated, type XI, alpha

Synonyms

NaN, NSS2, NaT, SNS2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8344 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119781970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 938 (D938E)

Ref Sequence

ENSEMBL: ENSMUSP00000065466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070617] [ENSMUST00000215718]

AlphaFold

Q9R053

Predicted Effect

probably benign
Transcript: ENSMUST00000070617
AA Change: D938E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D938E

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: D938E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,911,119	Y83F	possibly damaging	Het
Adgre1	C	G	17: 57,408,459	Q260E	probably benign	Het
Adgrf4	T	A	17: 42,666,908	M515L	probably benign	Het
Adgrl2	A	T	3: 148,859,525	C140S	probably damaging	Het
Ago3	T	A	4: 126,376,928	K258*	probably null	Het
Ampd1	A	T	3: 103,095,686	E573V	possibly damaging	Het
Atxn7l3b	T	A	10: 112,928,662	I21F	possibly damaging	Het
Bckdha	C	T	7: 25,631,447	R298H	probably damaging	Het
Cacng3	A	C	7: 122,768,346	I150L	possibly damaging	Het
Ccdc18	A	T	5: 108,161,503	K321N	possibly damaging	Het
Ccl11	A	T	11: 82,061,742	K47M	possibly damaging	Het
Cdkn2a	T	C	4: 89,276,750	I142M	probably benign	Het
Cfap65	C	T	1: 74,928,044	G249R	probably benign	Het
Chrna1	C	A	2: 73,570,609	E192D	probably benign	Het
Clasp1	A	G	1: 118,503,899	N420D	probably damaging	Het
Clca3a2	T	A	3: 144,805,942		probably null	Het
Cntn2	T	C	1: 132,521,774	Y643C	probably damaging	Het
Dcun1d1	G	A	3: 35,897,554	H204Y	probably benign	Het
Dlg2	A	T	7: 92,438,014	Q767L	possibly damaging	Het
Dnah11	A	G	12: 118,085,731	S1653P	probably benign	Het
Dvl3	T	A	16: 20,523,763		probably null	Het
Egf	T	C	3: 129,754,943	T8A	unknown	Het
Eln	G	T	5: 134,728,392	T219K	unknown	Het
Evc	T	C	5: 37,314,528	D536G	possibly damaging	Het
Fbxo3	A	G	2: 104,051,208	E295G	possibly damaging	Het
Gm14548	T	A	7: 3,896,955	E216V	possibly damaging	Het
Gp2	C	T	7: 119,442,787	C505Y	probably benign	Het
Gpr37	A	G	6: 25,669,531	F438S	probably damaging	Het
Gsk3b	T	C	16: 38,191,625	S236P	probably benign	Het
Kdm5d	A	G	Y: 942,477	T1381A	probably benign	Het
Klhl12	T	C	1: 134,485,722	I315T	possibly damaging	Het
Ltb	T	A	17: 35,195,193	N102K	probably benign	Het
Macf1	C	A	4: 123,384,683	D5993Y	probably damaging	Het
Macf1	T	C	4: 123,526,856	T202A	probably benign	Het
Mak	T	A	13: 41,046,203	D320V	probably benign	Het
Map2	G	A	1: 66,421,713	R1556H	probably damaging	Het
Mgat4d	G	T	8: 83,368,133	M266I	probably benign	Het
Mmp24	G	T	2: 155,810,303	R310S	possibly damaging	Het
Myh6	A	T	14: 54,953,434	L928Q	probably damaging	Het
Npnt	A	G	3: 132,908,456	L179P	probably damaging	Het
Olfr1205	A	G	2: 88,831,383	I89V	probably benign	Het
Olfr38	A	G	6: 42,762,565	N171S	probably benign	Het
Olfr972	T	G	9: 39,873,935	F220C	probably benign	Het
Parp4	A	T	14: 56,648,729	Y1755F	unknown	Het
Phactr1	A	G	13: 42,709,821	E74G	possibly damaging	Het
Plcg1	G	A	2: 160,747,896	M113I	probably benign	Het
Plekhh2	T	G	17: 84,571,761	S638A	possibly damaging	Het
Ppp2r3a	T	A	9: 101,211,786	H446L	probably benign	Het
Prkcg	G	T	7: 3,330,170	D644Y	probably damaging	Het
Rbbp8nl	G	T	2: 180,279,713	R293S	probably benign	Het
Rbl2	A	T	8: 91,115,759	H1057L	possibly damaging	Het
Rpgrip1	A	T	14: 52,150,362	H1076L	possibly damaging	Het
Sec24b	T	C	3: 130,005,001	D573G	probably damaging	Het
Serpinf1	T	G	11: 75,415,571	Q147P	unknown	Het
Skint6	C	T	4: 113,236,445	G167D	probably damaging	Het
Slc15a5	A	G	6: 138,079,900	F6S	probably damaging	Het
Smc2	T	A	4: 52,449,376	I179K	probably benign	Het
Smpdl3a	A	G	10: 57,800,977	K57R	possibly damaging	Het
Smpdl3b	T	A	4: 132,746,679	H25L	probably damaging	Het
Srpk1	T	C	17: 28,620,424	D35G	unknown	Het
Strn	A	G	17: 78,672,647	V324A	probably damaging	Het
Sult6b2	T	C	6: 142,790,296	K191E	probably benign	Het
Tmem168	A	G	6: 13,583,325	I519T	probably benign	Het
Tmem41a	T	C	16: 21,938,034	T112A	probably benign	Het
Tmem67	A	G	4: 12,058,576	I507T	probably benign	Het
Tns1	T	C	1: 73,985,042	E454G	probably damaging	Het
Trim26	C	A	17: 36,857,710	D422E	unknown	Het
Triobp	C	A	15: 78,958,275	R58S	possibly damaging	Het
Trp53	T	C	11: 69,587,583	F106S	probably damaging	Het
Tshz3	C	A	7: 36,771,537	Q984K	probably damaging	Het
Ttll3	A	G	6: 113,394,998	E73G	probably damaging	Het
Vmn1r194	A	G	13: 22,245,077	N288S	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
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'- AAGAATCTACCCTGGCAATCATTTC -3'
(R):5'- CACCGGAATCATACTGTTGCG -3'

Sequencing Primer
(F):5'- GGCAATCATTTCTCCGTTCATTCTG -3'
(R):5'- CCGGAATCATACTGTTGCGATTAAGG -3'

Posted On

2020-09-02