Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Scn11a'

83595

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

039056-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119582829-119654522 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 119632396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably null
Transcript: ENSMUST00000070617

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	probably damaging	Het

Other mutations in Scn11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Scn11a	APN	9	119,599,572 (GRCm39)	missense	probably benign	0.00
IGL00272:Scn11a	APN	9	119,645,669 (GRCm39)	missense	probably damaging	0.98
IGL00332:Scn11a	APN	9	119,598,982 (GRCm39)	missense	probably damaging	1.00
IGL00533:Scn11a	APN	9	119,603,447 (GRCm39)	missense	probably damaging	1.00
IGL00972:Scn11a	APN	9	119,623,004 (GRCm39)	missense	probably benign	0.44
IGL01338:Scn11a	APN	9	119,613,227 (GRCm39)	splice site	probably benign
IGL01534:Scn11a	APN	9	119,609,888 (GRCm39)	missense	probably benign	0.27
IGL01838:Scn11a	APN	9	119,587,649 (GRCm39)	missense	probably damaging	1.00
IGL01991:Scn11a	APN	9	119,648,970 (GRCm39)	missense	probably damaging	0.97
IGL02057:Scn11a	APN	9	119,594,536 (GRCm39)	missense	probably damaging	1.00
IGL02290:Scn11a	APN	9	119,603,508 (GRCm39)	missense	probably damaging	0.97
IGL02454:Scn11a	APN	9	119,587,610 (GRCm39)	missense	probably benign	0.00
IGL02517:Scn11a	APN	9	119,621,464 (GRCm39)	missense	probably damaging	1.00
IGL02567:Scn11a	APN	9	119,633,555 (GRCm39)	missense	probably damaging	0.99
IGL02587:Scn11a	APN	9	119,634,750 (GRCm39)	missense	probably damaging	1.00
IGL03069:Scn11a	APN	9	119,619,029 (GRCm39)	missense	probably benign	0.16
IGL03171:Scn11a	APN	9	119,648,913 (GRCm39)	missense	probably benign	0.00
Kleinie	UTSW	9	119,632,569 (GRCm39)	missense	probably benign	0.16
H8441:Scn11a	UTSW	9	119,636,976 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Scn11a	UTSW	9	119,599,014 (GRCm39)	missense	probably damaging	1.00
R0304:Scn11a	UTSW	9	119,648,928 (GRCm39)	missense	probably benign	0.00
R0519:Scn11a	UTSW	9	119,619,185 (GRCm39)	missense	probably damaging	1.00
R0658:Scn11a	UTSW	9	119,640,226 (GRCm39)	missense	probably benign	0.41
R0828:Scn11a	UTSW	9	119,584,073 (GRCm39)	missense	probably benign	0.00
R0932:Scn11a	UTSW	9	119,636,876 (GRCm39)	missense	probably damaging	1.00
R1061:Scn11a	UTSW	9	119,624,729 (GRCm39)	missense	probably damaging	0.98
R1161:Scn11a	UTSW	9	119,584,123 (GRCm39)	nonsense	probably null
R1162:Scn11a	UTSW	9	119,634,710 (GRCm39)	splice site	probably benign
R1310:Scn11a	UTSW	9	119,584,123 (GRCm39)	nonsense	probably null
R1589:Scn11a	UTSW	9	119,598,873 (GRCm39)	missense	probably damaging	1.00
R1681:Scn11a	UTSW	9	119,633,478 (GRCm39)	missense	possibly damaging	0.46
R1781:Scn11a	UTSW	9	119,584,148 (GRCm39)	missense	probably damaging	1.00
R1812:Scn11a	UTSW	9	119,609,931 (GRCm39)	nonsense	probably null
R1901:Scn11a	UTSW	9	119,608,102 (GRCm39)	nonsense	probably null
R1978:Scn11a	UTSW	9	119,609,861 (GRCm39)	nonsense	probably null
R1985:Scn11a	UTSW	9	119,583,744 (GRCm39)	missense	probably benign	0.19
R2022:Scn11a	UTSW	9	119,640,274 (GRCm39)	missense	possibly damaging	0.88
R2072:Scn11a	UTSW	9	119,640,274 (GRCm39)	missense	possibly damaging	0.88
R2098:Scn11a	UTSW	9	119,621,560 (GRCm39)	missense	possibly damaging	0.67
R2163:Scn11a	UTSW	9	119,584,091 (GRCm39)	missense	probably damaging	1.00
R2250:Scn11a	UTSW	9	119,587,668 (GRCm39)	missense	probably benign	0.01
R2373:Scn11a	UTSW	9	119,642,252 (GRCm39)	missense	probably benign	0.43
R2508:Scn11a	UTSW	9	119,594,595 (GRCm39)	missense	probably damaging	1.00
R3757:Scn11a	UTSW	9	119,632,569 (GRCm39)	missense	probably benign	0.16
R3767:Scn11a	UTSW	9	119,613,115 (GRCm39)	missense	probably damaging	1.00
R3770:Scn11a	UTSW	9	119,613,115 (GRCm39)	missense	probably damaging	1.00
R4089:Scn11a	UTSW	9	119,624,719 (GRCm39)	splice site	probably null
R4092:Scn11a	UTSW	9	119,619,036 (GRCm39)	missense	probably benign	0.03
R4247:Scn11a	UTSW	9	119,636,952 (GRCm39)	missense	probably damaging	1.00
R4279:Scn11a	UTSW	9	119,583,428 (GRCm39)	missense	probably benign	0.25
R4299:Scn11a	UTSW	9	119,594,572 (GRCm39)	missense	probably damaging	0.97
R4403:Scn11a	UTSW	9	119,624,733 (GRCm39)	missense	probably damaging	1.00
R4468:Scn11a	UTSW	9	119,584,053 (GRCm39)	missense	probably damaging	1.00
R4542:Scn11a	UTSW	9	119,584,200 (GRCm39)	missense	probably damaging	1.00
R4644:Scn11a	UTSW	9	119,644,269 (GRCm39)	splice site	probably null
R4739:Scn11a	UTSW	9	119,583,627 (GRCm39)	missense	probably benign	0.39
R4809:Scn11a	UTSW	9	119,648,936 (GRCm39)	missense	probably benign	0.00
R4954:Scn11a	UTSW	9	119,587,725 (GRCm39)	missense	possibly damaging	0.84
R5012:Scn11a	UTSW	9	119,609,944 (GRCm39)	missense	probably benign	0.31
R5044:Scn11a	UTSW	9	119,648,897 (GRCm39)	missense	probably damaging	0.98
R5222:Scn11a	UTSW	9	119,644,268 (GRCm39)	splice site	probably null
R5224:Scn11a	UTSW	9	119,583,858 (GRCm39)	missense	probably damaging	1.00
R5400:Scn11a	UTSW	9	119,598,974 (GRCm39)	missense	probably damaging	0.97
R5555:Scn11a	UTSW	9	119,584,304 (GRCm39)	missense	probably damaging	1.00
R5711:Scn11a	UTSW	9	119,618,990 (GRCm39)	missense	probably damaging	1.00
R5950:Scn11a	UTSW	9	119,640,190 (GRCm39)	missense	probably damaging	1.00
R5984:Scn11a	UTSW	9	119,613,082 (GRCm39)	missense	probably benign
R6057:Scn11a	UTSW	9	119,594,514 (GRCm39)	missense	probably damaging	1.00
R6104:Scn11a	UTSW	9	119,624,744 (GRCm39)	missense	probably damaging	1.00
R6180:Scn11a	UTSW	9	119,583,933 (GRCm39)	missense	probably benign	0.00
R6892:Scn11a	UTSW	9	119,636,035 (GRCm39)	missense	possibly damaging	0.53
R6908:Scn11a	UTSW	9	119,621,492 (GRCm39)	missense	probably damaging	1.00
R6949:Scn11a	UTSW	9	119,594,580 (GRCm39)	missense	probably benign	0.04
R7112:Scn11a	UTSW	9	119,583,875 (GRCm39)	missense	probably damaging	1.00
R7232:Scn11a	UTSW	9	119,588,982 (GRCm39)	missense	probably damaging	1.00
R7261:Scn11a	UTSW	9	119,648,899 (GRCm39)	missense	probably damaging	0.99
R7265:Scn11a	UTSW	9	119,644,331 (GRCm39)	missense	probably damaging	1.00
R7302:Scn11a	UTSW	9	119,636,017 (GRCm39)	missense	probably benign	0.03
R7391:Scn11a	UTSW	9	119,624,783 (GRCm39)	missense	probably damaging	1.00
R7441:Scn11a	UTSW	9	119,587,692 (GRCm39)	missense	probably benign	0.01
R7479:Scn11a	UTSW	9	119,588,941 (GRCm39)	missense	probably benign	0.38
R7608:Scn11a	UTSW	9	119,644,379 (GRCm39)	splice site	probably null
R7768:Scn11a	UTSW	9	119,644,338 (GRCm39)	missense	probably benign	0.13
R7785:Scn11a	UTSW	9	119,645,622 (GRCm39)	missense	probably benign	0.00
R7794:Scn11a	UTSW	9	119,594,580 (GRCm39)	missense	probably damaging	0.99
R7818:Scn11a	UTSW	9	119,613,177 (GRCm39)	missense	probably damaging	0.97
R7884:Scn11a	UTSW	9	119,633,617 (GRCm39)	missense	probably benign	0.01
R7988:Scn11a	UTSW	9	119,594,503 (GRCm39)	missense	probably damaging	0.97
R8049:Scn11a	UTSW	9	119,584,149 (GRCm39)	missense	probably damaging	1.00
R8127:Scn11a	UTSW	9	119,633,578 (GRCm39)	missense	probably damaging	1.00
R8274:Scn11a	UTSW	9	119,632,548 (GRCm39)	missense	probably benign
R8344:Scn11a	UTSW	9	119,611,036 (GRCm39)	missense	probably benign	0.00
R8346:Scn11a	UTSW	9	119,608,047 (GRCm39)	missense	probably damaging	1.00
R8511:Scn11a	UTSW	9	119,618,981 (GRCm39)	missense	probably damaging	0.99
R8819:Scn11a	UTSW	9	119,645,586 (GRCm39)	missense	probably benign	0.19
R8820:Scn11a	UTSW	9	119,645,586 (GRCm39)	missense	probably benign	0.19
R8837:Scn11a	UTSW	9	119,621,410 (GRCm39)	missense	probably damaging	1.00
R8913:Scn11a	UTSW	9	119,623,094 (GRCm39)	missense	probably damaging	1.00
R8915:Scn11a	UTSW	9	119,603,363 (GRCm39)	nonsense	probably null
R8975:Scn11a	UTSW	9	119,587,565 (GRCm39)	missense	probably damaging	1.00
R9156:Scn11a	UTSW	9	119,588,989 (GRCm39)	missense	possibly damaging	0.75
R9222:Scn11a	UTSW	9	119,611,013 (GRCm39)	missense	probably damaging	0.98
R9355:Scn11a	UTSW	9	119,584,160 (GRCm39)	missense	probably damaging	1.00
R9486:Scn11a	UTSW	9	119,624,774 (GRCm39)	missense	possibly damaging	0.86
R9712:Scn11a	UTSW	9	119,619,076 (GRCm39)	nonsense	probably null
R9766:Scn11a	UTSW	9	119,584,181 (GRCm39)	missense	probably damaging	1.00
Z1088:Scn11a	UTSW	9	119,584,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,648,886 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,584,064 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCACACGCACACTGTGACTGAC -3'
(R):5'- TGACAGAGACAGCAGAGTAGCTCC -3'

Sequencing Primer
(F):5'- TGTGACTGACTGCTCACACATATAC -3'
(R):5'- GCGTTTTCACAGGGAGCTATAATC -3'

Posted On

2013-11-08