Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Scn11a'

195300

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

039812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119755082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1489 (I1489N)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably damaging
Transcript: ENSMUST00000070617
AA Change: I1489N

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: I1489N

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: I1489N

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

Meta Mutation Damage Score

0.9459

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	C	T	8: 3,380,495	R123W	probably damaging	Het
Aadacl2	A	G	3: 60,024,696	K211E	probably damaging	Het
Abca13	T	A	11: 9,269,194	L376Q	probably damaging	Het
Abca17	T	C	17: 24,267,557	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639	N363K	possibly damaging	Het
Apob	T	A	12: 8,009,603	I2695N	possibly damaging	Het
Atg14	T	A	14: 47,549,150		probably null	Het
Atg2a	A	T	19: 6,256,213	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,513,593	S373P	probably damaging	Het
Ccdc83	T	C	7: 90,250,541	E41G	probably damaging	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,190,462		probably null	Het
Cdh8	A	T	8: 99,279,658	I99N	probably damaging	Het
Cdr2	G	A	7: 120,958,045	P419L	probably benign	Het
Cds1	T	A	5: 101,812,550	I289K	possibly damaging	Het
Cherp	G	A	8: 72,467,771	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,524,019	I222S	possibly damaging	Het
Dcc	A	G	18: 71,378,717	S856P	probably benign	Het
Dcp1a	C	T	14: 30,513,075	T221I	probably benign	Het
Ddx10	A	G	9: 53,207,545	S475P	probably damaging	Het
Dennd5b	G	T	6: 149,027,398	A759E	probably damaging	Het
Disp2	G	A	2: 118,792,561	G1258D	probably damaging	Het
Fam208b	T	C	13: 3,584,759	T683A	possibly damaging	Het
Fhdc1	A	T	3: 84,448,804	D444E	probably damaging	Het
Fhod1	T	C	8: 105,347,789		probably benign	Het
Gcnt7	T	C	2: 172,454,880	K8R	probably benign	Het
Gk5	C	T	9: 96,133,455	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,681,932		noncoding transcript	Het
Gnl1	A	T	17: 35,987,746	I434F	probably damaging	Het
Golga2	T	C	2: 32,306,576	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,517,538	V32A	probably benign	Het
Grb14	A	T	2: 64,975,555		probably null	Het
H6pd	A	T	4: 149,995,931	F144L	probably damaging	Het
Hunk	A	G	16: 90,432,560	Y27C	probably damaging	Het
Ints7	C	T	1: 191,596,284	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,179,003		probably null	Het
Lilra6	A	T	7: 3,915,067	L26H	probably benign	Het
Mc4r	A	T	18: 66,859,847	V65E	probably damaging	Het
Mgam	G	A	6: 40,669,863	G708R	probably damaging	Het
Mllt6	A	G	11: 97,672,569	D326G	probably benign	Het
Myo7a	A	T	7: 98,073,124	V1198D	probably damaging	Het
Nampt	T	C	12: 32,833,038	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,715,339	V123L	probably benign	Het
Ntpcr	T	A	8: 125,745,402	L150Q	probably damaging	Het
Obscn	C	T	11: 59,106,337	E1513K	probably damaging	Het
Ola1	T	C	2: 73,156,755	K178E	possibly damaging	Het
Olfr1351	T	C	10: 79,017,325	M1T	probably null	Het
Olfr1364	C	T	13: 21,573,541	G305D	probably damaging	Het
Olfr1368	C	T	13: 21,142,764	V98I	probably benign	Het
Olfr139	A	T	11: 74,044,960	F105I	probably damaging	Het
Olfr486	A	G	7: 108,171,883	V287A	probably benign	Het
Olfr53	A	T	7: 140,652,506	I176F	probably damaging	Het
Olfr615	C	T	7: 103,560,566	P30S	probably benign	Het
Olfr629	T	C	7: 103,740,821	M140V	probably benign	Het
Olfr672	A	T	7: 104,996,108	F265L	possibly damaging	Het
Olfr981	A	G	9: 40,023,245	N284S	probably damaging	Het
Opalin	T	C	19: 41,067,631		probably null	Het
P2ry12	A	G	3: 59,217,778	F159L	probably benign	Het
Paqr7	T	C	4: 134,507,281		probably null	Het
Parp1	T	C	1: 180,588,013	S466P	probably benign	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh1	T	C	18: 38,189,924	D952G	probably damaging	Het
Pde6c	T	C	19: 38,151,698	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,208,507	D10G	probably benign	Het
Phf20l1	A	G	15: 66,632,825	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,821,171	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,394,856	L251P	probably damaging	Het
Prex2	A	T	1: 11,199,955	N1288I	probably benign	Het
Sarnp	T	C	10: 128,833,322	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,766,968		probably benign	Het
Scn3a	A	T	2: 65,472,385	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,267,657	S377P	probably benign	Het
Slc22a30	T	A	19: 8,335,772	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,644,825	T296A	probably benign	Het
Slc35f1	T	A	10: 53,062,436		probably null	Het
Slc6a13	A	G	6: 121,334,852	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srsf9	C	A	5: 115,327,422	Y9*	probably null	Het
Tbx20	T	C	9: 24,725,499	I431V	probably benign	Het
Tespa1	G	A	10: 130,348,250	G67S	probably benign	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Trip12	A	T	1: 84,730,621	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Umodl1	G	A	17: 30,968,550	R196H	probably damaging	Het
Vezf1	G	T	11: 88,081,621	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,679,566	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,071,315	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,091,728	G323V	probably benign	Het
Vmn2r79	A	T	7: 87,002,347	H318L	probably benign	Het
Zfhx3	T	A	8: 108,793,535	S430T	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
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
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'- ATCTCAAAGTCGTCTTCGCCCAGG -3'
(R):5'- TTGGAGAACAGCAACGTCTTCCC -3'

Sequencing Primer
(F):5'- GCTGTGTTGAAGTTCTCTAGAATCAC -3'
(R):5'- CGCCCACACTCTTCAGG -3'

Posted On

2014-05-23