Mutagenetix > Incidental Mutation

Incidental Mutation 'R0828:Scn11a'

78389

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

039008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119582829-119654522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119584073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1514 (D1514V)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably benign
Transcript: ENSMUST00000070617
AA Change: D1514V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D1514V

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: D1514V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	C	T	11: 25,602,020 (GRCm39)	C70Y	unknown	Het
Abi3bp	C	T	16: 56,498,193 (GRCm39)	T929I	probably damaging	Het
Adap2	C	A	11: 80,056,490 (GRCm39)		probably benign	Het
Adgrg5	A	G	8: 95,668,413 (GRCm39)		probably null	Het
Afdn	C	A	17: 14,124,260 (GRCm39)	N1803K	probably damaging	Het
Alox12b	T	C	11: 69,057,132 (GRCm39)	L451P	possibly damaging	Het
Ankrd26	T	C	6: 118,510,434 (GRCm39)		probably benign	Het
Bcr	A	T	10: 74,993,039 (GRCm39)		probably benign	Het
Cacna1c	T	C	6: 118,734,347 (GRCm39)	N300D	probably benign	Het
Camsap1	G	T	2: 25,829,097 (GRCm39)	Q876K	probably damaging	Het
Cdh10	A	G	15: 18,986,837 (GRCm39)	D356G	possibly damaging	Het
Cdipt	T	A	7: 126,576,092 (GRCm39)	Y16N	probably damaging	Het
Cebpz	T	C	17: 79,233,411 (GRCm39)	E772G	probably benign	Het
Cep350	A	G	1: 155,828,992 (GRCm39)	I304T	probably benign	Het
Chpt1	C	A	10: 88,312,277 (GRCm39)	G9V	probably damaging	Het
Col6a5	T	A	9: 105,739,263 (GRCm39)		probably null	Het
Dock7	G	T	4: 98,903,982 (GRCm39)	P688T	probably damaging	Het
Ephb3	T	A	16: 21,037,784 (GRCm39)		probably benign	Het
Fcgr2b	T	C	1: 170,788,599 (GRCm39)	Y336C	probably damaging	Het
Flg2	A	T	3: 93,110,639 (GRCm39)	H889L	unknown	Het
Gucy2c	C	T	6: 136,686,746 (GRCm39)	V806M	probably damaging	Het
Hmgxb3	T	A	18: 61,304,426 (GRCm39)	I55F	probably damaging	Het
Igsf9b	T	A	9: 27,230,901 (GRCm39)	Y301*	probably null	Het
Il12rb2	C	T	6: 67,333,691 (GRCm39)	R196H	probably benign	Het
Itgam	T	C	7: 127,715,677 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,943 (GRCm39)	V283A	probably damaging	Het
Klhl5	T	C	5: 65,320,135 (GRCm39)	L423P	probably damaging	Het
Krt6a	T	C	15: 101,602,271 (GRCm39)	N138S	probably damaging	Het
Lrba	A	T	3: 86,515,677 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,852,100 (GRCm39)	T828A	probably damaging	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mink1	C	T	11: 70,500,971 (GRCm39)	Q743*	probably null	Het
Mrgpra3	T	C	7: 47,239,884 (GRCm39)	N14S	probably benign	Het
Mroh7	T	C	4: 106,557,073 (GRCm39)	S808G	probably damaging	Het
Msi1	T	C	5: 115,568,953 (GRCm39)		probably null	Het
Nrap	A	G	19: 56,333,990 (GRCm39)	Y874H	probably damaging	Het
Nup205	T	C	6: 35,171,501 (GRCm39)	F455L	probably benign	Het
Or2t1	G	T	14: 14,328,800 (GRCm38)	V230L	probably benign	Het
Piwil2	A	G	14: 70,613,466 (GRCm39)	V894A	probably damaging	Het
Polr1c	A	G	17: 46,555,990 (GRCm39)	S173P	probably damaging	Het
Pphln1-ps1	A	G	16: 13,495,669 (GRCm39)	Y256C	probably damaging	Het
Prep	C	T	10: 45,031,621 (GRCm39)	A564V	probably benign	Het
Rab3gap1	T	C	1: 127,865,922 (GRCm39)		probably benign	Het
Rcc1	G	C	4: 132,063,136 (GRCm39)		probably benign	Het
Setdb1	G	A	3: 95,246,171 (GRCm39)	P584S	probably damaging	Het
Slc12a7	A	G	13: 73,936,771 (GRCm39)	I144V	probably benign	Het
Slc45a4	T	C	15: 73,458,665 (GRCm39)	M295V	probably benign	Het
Slco1a1	T	A	6: 141,867,565 (GRCm39)	D456V	possibly damaging	Het
Sspo	G	T	6: 48,475,668 (GRCm39)	C4928F	probably damaging	Het
St6galnac1	T	A	11: 116,659,823 (GRCm39)	K163N	probably benign	Het
Tcp11l1	A	T	2: 104,530,181 (GRCm39)		probably benign	Het
Tns1	T	A	1: 73,958,825 (GRCm39)	I1715F	probably damaging	Het
Trpa1	C	T	1: 14,946,108 (GRCm39)	V1008M	probably damaging	Het
Ttc28	A	G	5: 111,371,312 (GRCm39)	E587G	probably damaging	Het
Ubr4	T	C	4: 139,177,864 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp8	G	A	2: 126,584,034 (GRCm39)		probably benign	Het
Zfc3h1	G	T	10: 115,237,612 (GRCm39)	A464S	possibly damaging	Het
Zfp106	T	C	2: 120,366,084 (GRCm39)	I108V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGATCTCAAAGTCGTCTTCGCCC -3'
(R):5'- TTCAGGATTGTCCGCTTGGCTC -3'

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

Posted On

2013-10-16