Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Scn11a'

332296

Institutional Source

Australian Phenomics Network (link to record)

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: 0.091) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

119582829-119654522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119598982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1183 (F1183I)

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: F1183I

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: F1183I

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: F1183I

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

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly 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
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
R0893:Scn11a	UTSW	9	119,632,396 (GRCm39)	splice site	probably null
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

Posted On

2015-08-05