Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Scn11a'

212225

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

039921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119779036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1010 (K1010*)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably null
Transcript: ENSMUST00000070617
AA Change: K1010*

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: K1010*

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 null
Transcript: ENSMUST00000215718
AA Change: K1010*

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,346,099	E466G	probably damaging	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Acta1	A	T	8: 123,893,161	S147T	probably benign	Het
Adh1	G	A	3: 138,288,797	V293I	probably benign	Het
Aldh3b3	T	C	19: 3,965,130	Y170H	probably damaging	Het
Ank3	A	T	10: 69,822,337	T198S	probably damaging	Het
Ankrd12	A	T	17: 65,986,703	N578K	possibly damaging	Het
Ano2	A	T	6: 125,872,684	E126D	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,536,997	I88K	unknown	Het
Col1a1	G	A	11: 94,946,632		probably null	Het
Col5a1	A	G	2: 27,960,444	T518A	unknown	Het
Cul7	T	C	17: 46,655,740	L365P	probably damaging	Het
Dlec1	T	C	9: 119,102,644	S44P	probably damaging	Het
Dock9	T	C	14: 121,625,153		probably null	Het
Flrt2	C	A	12: 95,779,130	P81T	probably damaging	Het
Flrt2	C	T	12: 95,779,131	P81L	probably damaging	Het
Ginm1	A	G	10: 7,775,216		probably null	Het
Glis3	T	C	19: 28,531,585	N333S	probably damaging	Het
Glo1	T	G	17: 30,596,408	E144D	probably benign	Het
Golga1	A	T	2: 39,047,780		probably null	Het
H2-Aa	A	G	17: 34,283,233	I155T	possibly damaging	Het
Haus5	A	G	7: 30,657,245	S479P	probably damaging	Het
Il10ra	A	T	9: 45,256,356	V299D	probably benign	Het
Il17re	T	C	6: 113,469,704	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Il23r	A	C	6: 67,423,734	D537E	probably benign	Het
Inppl1	T	C	7: 101,823,377	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,470,220	L304P	probably damaging	Het
Krt78	A	T	15: 101,946,963	C804*	probably null	Het
Lrrc29	T	C	8: 105,313,075	N556S	probably damaging	Het
Med15	G	T	16: 17,673,154		probably benign	Het
Mettl25	A	G	10: 105,826,087	S341P	probably damaging	Het
Mroh1	A	G	15: 76,436,049	T1008A	probably benign	Het
Mug1	A	G	6: 121,881,821	D1166G	probably benign	Het
Mug2	C	A	6: 122,071,842	H856N	probably benign	Het
Naca	T	A	10: 128,043,721		probably benign	Het
Nagk	G	T	6: 83,799,354	V184F	probably damaging	Het
Nav1	T	G	1: 135,472,410	N474T	probably benign	Het
Ncor2	T	A	5: 125,025,425	H2089L	probably benign	Het
Nek6	A	G	2: 38,582,446	I261V	probably damaging	Het
Neurod2	G	A	11: 98,327,732	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,825,900	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,423,910	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,313,671	V340D	probably damaging	Het
Ntn4	A	G	10: 93,707,372	D320G	possibly damaging	Het
Olfr119	T	A	17: 37,701,421	H250Q	probably damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr417	A	T	1: 174,369,168	I84L	probably benign	Het
Olfr625-ps1	T	C	7: 103,683,543	I265T	probably damaging	Het
Olfr685	A	G	7: 105,180,872	I162T	possibly damaging	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,630	W610R	possibly damaging	Het
Pias2	T	A	18: 77,097,443	C66*	probably null	Het
Plec	T	A	15: 76,175,551	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Ppp1r12a	T	A	10: 108,198,891	I99N	probably damaging	Het
Prpf8	T	G	11: 75,504,744	V1899G	probably damaging	Het
Prr13	C	A	15: 102,460,698		probably benign	Het
Ptchd4	A	T	17: 42,503,616	I803L	probably benign	Het
R3hdm2	T	C	10: 127,498,468	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,371,451	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 180,283,313	R33Q	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Rptn	A	T	3: 93,396,710	H450L	possibly damaging	Het
Slc16a10	G	A	10: 40,056,606	Q33*	probably null	Het
Slc31a1	C	T	4: 62,385,605		probably benign	Het
Slc34a1	A	T	13: 55,401,150	K138*	probably null	Het
Slc6a18	T	A	13: 73,670,043	E285V	probably benign	Het
Slco6c1	T	A	1: 97,072,982	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,385,975	S295T	probably damaging	Het
Snx4	A	T	16: 33,284,438	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,671,139	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,377	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,910,176	F176L	probably benign	Het
Tcp10b	A	G	17: 13,081,626	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,317,724	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,723,005	K823R	probably damaging	Het
Trim31	A	G	17: 36,901,800	E221G	probably benign	Het
Trim47	T	A	11: 116,107,779	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,116,241	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371		probably null	Het
Utp20	G	T	10: 88,753,026	T2427K	probably benign	Het
Vldlr	T	C	19: 27,241,309	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,844,273	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,808,793	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,224,286	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,604,832	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,790,276	P13T	probably damaging	Het
Zfp825	A	G	13: 74,480,945	C151R	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
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
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'- TCAGCAGGATTTCCCACAGC -3'
(R):5'- AGATGATACTTTGTGGCTTCACCTC -3'

Sequencing Primer
(F):5'- GGATTTCCCACAGCCACCC -3'
(R):5'- TCTTCCTTTTGGCTAGCAGAG -3'

Posted On

2014-06-30