Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Scn10a'

597735

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

045815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119437522-119548388 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 119477198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 728 (W728*)

Ref Sequence

ENSEMBL: ENSMUSP00000148987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084787] [ENSMUST00000213392] [ENSMUST00000214408]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000084787
AA Change: W728*

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: W728*

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	129	406	7.9e-77	PFAM
low complexity region	557	572	N/A	INTRINSIC
Pfam:Ion_trans	663	898	6.8e-53	PFAM
Pfam:Na_trans_assoc	903	1148	2.7e-57	PFAM
Pfam:Ion_trans	1152	1429	8.1e-66	PFAM
Pfam:Ion_trans	1476	1734	1.9e-55	PFAM
Pfam:PKD_channel	1561	1729	3.4e-8	PFAM
IQ	1851	1873	7.57e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000213392
AA Change: W728*

Predicted Effect

probably null
Transcript: ENSMUST00000214408
AA Change: W728*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired perception of pain. Mice homozygous or heterozygous for an ENU-induced allele exhibit a catalepsy phenotype following scruffing and increased sensitivity to cold pain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,682,514 (GRCm39)	G215V	probably benign	Het
Adamts1	C	A	16: 85,594,683 (GRCm39)	G652C	probably damaging	Het
Adck1	G	A	12: 88,368,887 (GRCm39)	A122T	possibly damaging	Het
Akap1	A	C	11: 88,736,659 (GRCm39)	M34R	probably damaging	Het
Apc2	C	T	10: 80,147,030 (GRCm39)	R695C	probably damaging	Het
Apon	T	A	10: 128,090,384 (GRCm39)	W21R	probably benign	Het
Arhgef16	T	C	4: 154,371,432 (GRCm39)	T254A	probably benign	Het
Arid5b	T	A	10: 67,933,632 (GRCm39)	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,254,242 (GRCm39)	I122L	possibly damaging	Het
Bckdhb	T	G	9: 83,892,379 (GRCm39)	V270G	probably damaging	Het
Cacna1d	A	G	14: 29,821,145 (GRCm39)	Y1146H	probably benign	Het
Carmil2	A	G	8: 106,423,668 (GRCm39)	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,084,912 (GRCm39)	V636A	probably benign	Het
Chd9	T	C	8: 91,704,178 (GRCm39)		probably null	Het
Csmd3	A	G	15: 47,561,569 (GRCm39)	S1336P		Het
Cubn	A	G	2: 13,352,961 (GRCm39)	Y1926H	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Eme1	A	T	11: 94,536,666 (GRCm39)	Y504*	probably null	Het
Enah	G	A	1: 181,746,009 (GRCm39)	A687V	unknown	Het
Endou	A	C	15: 97,611,747 (GRCm39)	V339G	probably damaging	Het
Ephb6	G	A	6: 41,591,539 (GRCm39)	R232H	probably benign	Het
Ephx2	G	A	14: 66,326,968 (GRCm39)	A409V	possibly damaging	Het
Esd	T	A	14: 74,983,007 (GRCm39)	C219*	probably null	Het
Fscb	A	T	12: 64,520,866 (GRCm39)	M200K	probably benign	Het
Gabra6	A	T	11: 42,208,508 (GRCm39)	V108D	probably damaging	Het
Gm11555	A	G	11: 99,540,568 (GRCm39)	V137A	unknown	Het
Gpld1	A	G	13: 25,146,383 (GRCm39)	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,719,256 (GRCm39)	I408N	probably damaging	Het
Itgb4	A	G	11: 115,894,536 (GRCm39)	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,506,509 (GRCm39)	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,199,427 (GRCm39)	W440R	probably benign	Het
Mtrr	C	T	13: 68,718,146 (GRCm39)	E373K	probably damaging	Het
Mug2	T	A	6: 122,058,317 (GRCm39)	V1293E	probably damaging	Het
Myof	C	A	19: 37,928,346 (GRCm39)	A1068S	probably benign	Het
Ncam2	A	G	16: 81,412,672 (GRCm39)	D720G	probably damaging	Het
Nova2	G	T	7: 18,692,176 (GRCm39)	G435V		Het
Oacyl	T	A	18: 65,843,631 (GRCm39)	D109E	probably damaging	Het
Or2y1g	A	T	11: 49,171,463 (GRCm39)	M163L	probably benign	Het
Or56a4	G	A	7: 104,806,232 (GRCm39)	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,101,637 (GRCm39)	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,288,358 (GRCm39)	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,740,018 (GRCm39)	D364E	probably benign	Het
Rigi	C	A	4: 40,225,104 (GRCm39)	A298S	probably damaging	Het
Rp1	T	C	1: 4,415,107 (GRCm39)	N2002D	probably benign	Het
Sall1	C	T	8: 89,768,979 (GRCm39)		probably null	Het
Setdb2	G	T	14: 59,656,813 (GRCm39)	T168K	probably damaging	Het
Sgms1	T	C	19: 32,137,276 (GRCm39)	I97V	probably benign	Het
Slc8a3	A	T	12: 81,361,325 (GRCm39)	M498K	probably benign	Het
Smpd4	A	T	16: 17,456,497 (GRCm39)	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,940,529 (GRCm39)	K881*	probably null	Het
Strn4	A	G	7: 16,564,309 (GRCm39)	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,870,890 (GRCm39)	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,935,730 (GRCm39)	R1773S	probably benign	Het
Thbs2	T	C	17: 14,897,321 (GRCm39)	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,224,572 (GRCm39)	T135I	probably damaging	Het
Tollip	A	G	7: 141,438,276 (GRCm39)	M218T	probably benign	Het
Tyk2	A	T	9: 21,031,554 (GRCm39)		probably null	Het
Ubr2	G	A	17: 47,296,974 (GRCm39)	R269C	probably damaging	Het
Uggt1	A	T	1: 36,185,806 (GRCm39)	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,786,730 (GRCm39)	V929A	probably benign	Het
Usp48	T	C	4: 137,321,763 (GRCm39)	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,218,631 (GRCm39)	E42K	not run	Het
Vmn1r83	G	T	7: 12,055,360 (GRCm39)	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,800,339 (GRCm39)	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,463,991 (GRCm39)	I281T	probably damaging	Het
Ywhag	A	T	5: 135,940,043 (GRCm39)	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,347,535 (GRCm39)	E1971D	possibly damaging	Het
Zfp568	G	A	7: 29,722,839 (GRCm39)	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083 (GRCm39)	D248G	probably benign	Het

Other mutations in Scn10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Scn10a	APN	9	119,501,292 (GRCm39)	missense	probably damaging	1.00
IGL01339:Scn10a	APN	9	119,451,832 (GRCm39)	missense	probably damaging	1.00
IGL01467:Scn10a	APN	9	119,487,478 (GRCm39)	missense	probably benign	0.33
IGL01472:Scn10a	APN	9	119,446,829 (GRCm39)	missense	probably damaging	1.00
IGL01481:Scn10a	APN	9	119,438,260 (GRCm39)	missense	probably damaging	1.00
IGL01539:Scn10a	APN	9	119,467,764 (GRCm39)	missense	probably damaging	0.99
IGL01580:Scn10a	APN	9	119,456,225 (GRCm39)	missense	probably damaging	1.00
IGL01676:Scn10a	APN	9	119,501,231 (GRCm39)	nonsense	probably null
IGL01681:Scn10a	APN	9	119,523,143 (GRCm39)	missense	probably damaging	1.00
IGL01748:Scn10a	APN	9	119,456,150 (GRCm39)	missense	probably damaging	1.00
IGL01866:Scn10a	APN	9	119,464,568 (GRCm39)	nonsense	probably null
IGL01998:Scn10a	APN	9	119,438,742 (GRCm39)	missense	probably damaging	1.00
IGL02015:Scn10a	APN	9	119,494,017 (GRCm39)	missense	probably benign	0.09
IGL02098:Scn10a	APN	9	119,520,544 (GRCm39)	missense	possibly damaging	0.90
IGL02113:Scn10a	APN	9	119,438,956 (GRCm39)	missense	probably damaging	1.00
IGL02245:Scn10a	APN	9	119,501,218 (GRCm39)	missense	probably damaging	1.00
IGL02262:Scn10a	APN	9	119,487,499 (GRCm39)	missense	possibly damaging	0.92
IGL02317:Scn10a	APN	9	119,467,621 (GRCm39)	missense	probably benign	0.00
IGL02428:Scn10a	APN	9	119,520,628 (GRCm39)	missense	probably damaging	1.00
IGL02439:Scn10a	APN	9	119,447,914 (GRCm39)	missense	probably benign	0.40
IGL02583:Scn10a	APN	9	119,520,506 (GRCm39)	splice site	probably benign
IGL02597:Scn10a	APN	9	119,439,189 (GRCm39)	missense	probably damaging	0.99
IGL02680:Scn10a	APN	9	119,495,125 (GRCm39)	missense	probably damaging	1.00
IGL02733:Scn10a	APN	9	119,445,771 (GRCm39)	missense	probably damaging	1.00
IGL02851:Scn10a	APN	9	119,500,674 (GRCm39)	missense	probably damaging	1.00
IGL02992:Scn10a	APN	9	119,438,626 (GRCm39)	missense	possibly damaging	0.90
IGL03040:Scn10a	APN	9	119,452,051 (GRCm39)	missense	probably damaging	1.00
IGL03049:Scn10a	APN	9	119,495,056 (GRCm39)	missense	probably damaging	1.00
IGL03407:Scn10a	APN	9	119,477,237 (GRCm39)	missense	probably damaging	0.99
possum	UTSW	9	119,467,771 (GRCm39)	missense	probably damaging	1.00
R0025:Scn10a	UTSW	9	119,499,550 (GRCm39)	missense	probably damaging	1.00
R0030:Scn10a	UTSW	9	119,499,056 (GRCm39)	missense	probably benign	0.01
R0328:Scn10a	UTSW	9	119,523,168 (GRCm39)	missense	possibly damaging	0.92
R0494:Scn10a	UTSW	9	119,453,166 (GRCm39)	missense	probably damaging	1.00
R0511:Scn10a	UTSW	9	119,442,766 (GRCm39)	missense	probably damaging	0.99
R0548:Scn10a	UTSW	9	119,494,994 (GRCm39)	missense	probably benign	0.00
R0584:Scn10a	UTSW	9	119,499,597 (GRCm39)	missense	probably damaging	1.00
R0595:Scn10a	UTSW	9	119,495,129 (GRCm39)	missense	probably benign	0.01
R0894:Scn10a	UTSW	9	119,459,213 (GRCm39)	missense	probably damaging	1.00
R1022:Scn10a	UTSW	9	119,438,340 (GRCm39)	missense	probably damaging	1.00
R1024:Scn10a	UTSW	9	119,438,340 (GRCm39)	missense	probably damaging	1.00
R1263:Scn10a	UTSW	9	119,446,799 (GRCm39)	missense	probably damaging	1.00
R1456:Scn10a	UTSW	9	119,520,544 (GRCm39)	missense	probably benign	0.01
R1466:Scn10a	UTSW	9	119,495,556 (GRCm39)	missense	probably damaging	1.00
R1466:Scn10a	UTSW	9	119,495,556 (GRCm39)	missense	probably damaging	1.00
R1573:Scn10a	UTSW	9	119,442,692 (GRCm39)	missense	probably benign	0.04
R1704:Scn10a	UTSW	9	119,438,460 (GRCm39)	missense	probably damaging	1.00
R1933:Scn10a	UTSW	9	119,439,064 (GRCm39)	missense	probably damaging	1.00
R1945:Scn10a	UTSW	9	119,520,520 (GRCm39)	missense	possibly damaging	0.91
R2013:Scn10a	UTSW	9	119,442,802 (GRCm39)	missense	probably damaging	0.99
R2155:Scn10a	UTSW	9	119,438,514 (GRCm39)	missense	probably benign	0.02
R2196:Scn10a	UTSW	9	119,438,070 (GRCm39)	missense	probably benign
R2231:Scn10a	UTSW	9	119,462,916 (GRCm39)	missense	possibly damaging	0.73
R2353:Scn10a	UTSW	9	119,467,753 (GRCm39)	missense	probably damaging	1.00
R2392:Scn10a	UTSW	9	119,456,268 (GRCm39)	missense	possibly damaging	0.86
R2895:Scn10a	UTSW	9	119,490,467 (GRCm39)	missense	probably benign	0.00
R2926:Scn10a	UTSW	9	119,467,767 (GRCm39)	missense	possibly damaging	0.93
R3783:Scn10a	UTSW	9	119,520,628 (GRCm39)	missense	probably damaging	1.00
R3821:Scn10a	UTSW	9	119,467,699 (GRCm39)	missense	probably benign
R4003:Scn10a	UTSW	9	119,438,034 (GRCm39)	missense	probably null	0.00
R4208:Scn10a	UTSW	9	119,445,842 (GRCm39)	missense	probably damaging	0.99
R4231:Scn10a	UTSW	9	119,460,610 (GRCm39)	missense	probably damaging	0.98
R4626:Scn10a	UTSW	9	119,460,571 (GRCm39)	missense	possibly damaging	0.87
R4702:Scn10a	UTSW	9	119,462,857 (GRCm39)	missense	possibly damaging	0.59
R4713:Scn10a	UTSW	9	119,438,717 (GRCm39)	missense	probably damaging	1.00
R4729:Scn10a	UTSW	9	119,500,592 (GRCm39)	missense	probably damaging	1.00
R4782:Scn10a	UTSW	9	119,451,976 (GRCm39)	missense	possibly damaging	0.70
R4822:Scn10a	UTSW	9	119,467,738 (GRCm39)	missense	probably damaging	1.00
R4856:Scn10a	UTSW	9	119,523,376 (GRCm39)	missense	possibly damaging	0.63
R4856:Scn10a	UTSW	9	119,523,375 (GRCm39)	missense	possibly damaging	0.46
R4932:Scn10a	UTSW	9	119,516,940 (GRCm39)	splice site	probably null
R5015:Scn10a	UTSW	9	119,451,987 (GRCm39)	missense	possibly damaging	0.93
R5193:Scn10a	UTSW	9	119,438,721 (GRCm39)	missense	probably damaging	1.00
R5211:Scn10a	UTSW	9	119,490,298 (GRCm39)	missense	possibly damaging	0.87
R5320:Scn10a	UTSW	9	119,477,175 (GRCm39)	missense	probably damaging	1.00
R5400:Scn10a	UTSW	9	119,438,100 (GRCm39)	missense	probably damaging	0.99
R5448:Scn10a	UTSW	9	119,517,013 (GRCm39)	missense	probably benign	0.25
R5457:Scn10a	UTSW	9	119,523,193 (GRCm39)	missense	probably damaging	1.00
R5554:Scn10a	UTSW	9	119,523,196 (GRCm39)	missense	probably benign	0.01
R5680:Scn10a	UTSW	9	119,453,202 (GRCm39)	missense	probably damaging	1.00
R5762:Scn10a	UTSW	9	119,464,507 (GRCm39)	critical splice donor site	probably null
R5935:Scn10a	UTSW	9	119,456,237 (GRCm39)	missense	probably damaging	0.99
R5956:Scn10a	UTSW	9	119,460,626 (GRCm39)	missense	probably damaging	1.00
R6041:Scn10a	UTSW	9	119,438,535 (GRCm39)	missense	probably damaging	1.00
R6047:Scn10a	UTSW	9	119,451,897 (GRCm39)	missense	probably benign	0.20
R6132:Scn10a	UTSW	9	119,442,761 (GRCm39)	missense	possibly damaging	0.94
R6156:Scn10a	UTSW	9	119,464,649 (GRCm39)	missense	probably benign	0.00
R6309:Scn10a	UTSW	9	119,453,181 (GRCm39)	missense	possibly damaging	0.95
R6318:Scn10a	UTSW	9	119,456,181 (GRCm39)	missense	probably damaging	1.00
R6394:Scn10a	UTSW	9	119,490,386 (GRCm39)	missense	probably benign	0.36
R6711:Scn10a	UTSW	9	119,438,979 (GRCm39)	missense	probably damaging	1.00
R6751:Scn10a	UTSW	9	119,500,617 (GRCm39)	missense	probably damaging	1.00
R6877:Scn10a	UTSW	9	119,438,848 (GRCm39)	missense	probably damaging	0.96
R6909:Scn10a	UTSW	9	119,438,856 (GRCm39)	missense	probably damaging	1.00
R7023:Scn10a	UTSW	9	119,442,610 (GRCm39)	missense	probably damaging	0.99
R7205:Scn10a	UTSW	9	119,442,616 (GRCm39)	missense	probably damaging	0.99
R7254:Scn10a	UTSW	9	119,447,921 (GRCm39)	missense	probably damaging	0.99
R7261:Scn10a	UTSW	9	119,438,790 (GRCm39)	missense	probably damaging	0.97
R7283:Scn10a	UTSW	9	119,493,845 (GRCm39)	critical splice donor site	probably null
R7453:Scn10a	UTSW	9	119,467,618 (GRCm39)	missense	probably benign
R7561:Scn10a	UTSW	9	119,523,390 (GRCm39)	start codon destroyed	probably null	0.66
R7590:Scn10a	UTSW	9	119,495,466 (GRCm39)	missense	probably damaging	1.00
R7765:Scn10a	UTSW	9	119,438,970 (GRCm39)	missense	possibly damaging	0.90
R7851:Scn10a	UTSW	9	119,446,828 (GRCm39)	missense	probably damaging	0.99
R7875:Scn10a	UTSW	9	119,464,508 (GRCm39)	critical splice donor site	probably null
R7975:Scn10a	UTSW	9	119,501,286 (GRCm39)	missense	probably benign	0.31
R8010:Scn10a	UTSW	9	119,490,233 (GRCm39)	missense	possibly damaging	0.56
R8027:Scn10a	UTSW	9	119,462,856 (GRCm39)	missense	probably damaging	0.99
R8221:Scn10a	UTSW	9	119,446,829 (GRCm39)	missense	probably damaging	1.00
R8249:Scn10a	UTSW	9	119,446,840 (GRCm39)	missense	probably damaging	1.00
R8319:Scn10a	UTSW	9	119,499,455 (GRCm39)	missense	probably benign	0.04
R8323:Scn10a	UTSW	9	119,438,462 (GRCm39)	missense	possibly damaging	0.95
R8539:Scn10a	UTSW	9	119,467,840 (GRCm39)	nonsense	probably null
R8679:Scn10a	UTSW	9	119,501,194 (GRCm39)	missense	probably damaging	0.97
R8680:Scn10a	UTSW	9	119,520,509 (GRCm39)	critical splice donor site	probably null
R8844:Scn10a	UTSW	9	119,446,791 (GRCm39)	missense	probably damaging	0.98
R9011:Scn10a	UTSW	9	119,459,160 (GRCm39)	missense	probably damaging	0.99
R9055:Scn10a	UTSW	9	119,451,958 (GRCm39)	missense	probably damaging	0.98
R9206:Scn10a	UTSW	9	119,445,827 (GRCm39)	missense	probably damaging	1.00
R9615:Scn10a	UTSW	9	119,487,504 (GRCm39)	missense	possibly damaging	0.55
R9622:Scn10a	UTSW	9	119,438,046 (GRCm39)	missense	probably benign	0.11
R9641:Scn10a	UTSW	9	119,445,869 (GRCm39)	missense	possibly damaging	0.60
R9651:Scn10a	UTSW	9	119,439,063 (GRCm39)	missense	probably benign	0.17
X0058:Scn10a	UTSW	9	119,438,430 (GRCm39)	nonsense	probably null
Z1177:Scn10a	UTSW	9	119,453,211 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAGTCCCCAGACACACAGTG -3'
(R):5'- TGGCTCAGAAATTCCCATCTAC -3'

Sequencing Primer
(F):5'- GACACACAGTGCCTGTCC -3'
(R):5'- CTGGAGTTACAAGCATGTGCCAC -3'

Posted On

2019-11-26