Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Scn10a'

510294

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

044473-MU

Accession Numbers

Essential gene?

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

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119437522-119548388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119456181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 1214 (Y1214D)

Ref Sequence

ENSEMBL: ENSMUSP00000150830 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084787
AA Change: Y1214D

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

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: Y1214D

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 damaging
Transcript: ENSMUST00000213392
AA Change: Y1213D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214408
AA Change: Y1214D

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

Meta Mutation Damage Score

0.9603

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,270,474 (GRCm39)	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,186,645 (GRCm39)	T500A	probably benign	Het
Adcy4	T	A	14: 56,006,681 (GRCm39)	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,343,241 (GRCm39)	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,153,245 (GRCm39)	Y160*	probably null	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Armt1	T	C	10: 4,400,859 (GRCm39)	M202T	probably benign	Het
Brd2	C	A	17: 34,331,872 (GRCm39)	V349F	probably damaging	Het
Btnl10	A	T	11: 58,817,691 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,253,591 (GRCm39)	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,240,968 (GRCm39)	L142Q	unknown	Het
Cdc27	A	T	11: 104,419,520 (GRCm39)	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,548,237 (GRCm39)	I109T	probably damaging	Het
Ces5a	C	T	8: 94,261,211 (GRCm39)	G72E	probably damaging	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,315,001 (GRCm39)	P207L	probably damaging	Het
Clec16a	G	A	16: 10,448,652 (GRCm39)	R599H	probably damaging	Het
Csmd1	A	T	8: 15,953,212 (GRCm39)	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,107,396 (GRCm39)	N243K	probably benign	Het
Ddx59	T	C	1: 136,344,610 (GRCm39)	F94L	probably damaging	Het
Dusp3	A	C	11: 101,877,697 (GRCm39)	V19G	probably benign	Het
Fat3	T	C	9: 15,828,280 (GRCm39)		probably benign	Het
Fgfr4	T	A	13: 55,313,921 (GRCm39)	V545E	probably damaging	Het
Fxn	G	T	19: 24,257,790 (GRCm39)	A47D	probably damaging	Het
Gdpgp1	A	T	7: 79,888,898 (GRCm39)	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,328,040 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 111,335,836 (GRCm39)	C749F	probably damaging	Het
Hps4	T	G	5: 112,494,495 (GRCm39)	V26G	probably damaging	Het
Igf1r	A	G	7: 67,814,981 (GRCm39)	D294G	probably benign	Het
Immp1l	T	C	2: 105,761,172 (GRCm39)	F27S	probably benign	Het
Kcnk3	T	A	5: 30,779,930 (GRCm39)	C327S	probably damaging	Het
Kif13a	T	A	13: 46,968,683 (GRCm39)		probably null	Het
Krtap5-4	T	C	7: 141,857,827 (GRCm39)	S166P	unknown	Het
Lyst	G	A	13: 13,917,896 (GRCm39)	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,047,078 (GRCm39)	S1735A	unknown	Het
Myh4	A	G	11: 67,134,268 (GRCm39)	T308A	probably benign	Het
Myh8	A	T	11: 67,190,167 (GRCm39)	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,781,657 (GRCm39)	V1367I	probably damaging	Het
Nae1	T	C	8: 105,250,269 (GRCm39)	D208G	probably benign	Het
Nelfe	T	A	17: 35,073,432 (GRCm39)	V296D	probably damaging	Het
Nkapd1	T	C	9: 50,518,761 (GRCm39)	R284G	probably benign	Het
Npepps	A	T	11: 97,109,374 (GRCm39)	V734E	probably damaging	Het
Ogdh	A	G	11: 6,299,390 (GRCm39)	N752S	probably damaging	Het
Or11i1	T	C	3: 106,729,503 (GRCm39)	D124G	probably damaging	Het
Or3a1b	A	T	11: 74,012,547 (GRCm39)	Q144L	possibly damaging	Het
Or5t9	A	G	2: 86,659,998 (GRCm39)	I301V	possibly damaging	Het
Or8b1	T	C	9: 38,399,673 (GRCm39)	M116T	probably benign	Het
Otof	C	A	5: 30,571,888 (GRCm39)	G171V	probably damaging	Het
Phtf2	A	T	5: 21,006,939 (GRCm39)	V208D	probably damaging	Het
Pkn1	T	A	8: 84,410,220 (GRCm39)	T340S	probably damaging	Het
Plcd4	C	T	1: 74,602,753 (GRCm39)	L668F	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss50	A	T	9: 110,690,367 (GRCm39)	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118 (GRCm38)	V604A	probably damaging	Het
Rab33b	T	C	3: 51,400,826 (GRCm39)	V100A	probably damaging	Het
Rbm26	T	A	14: 105,368,971 (GRCm39)	D736V	probably damaging	Het
Rela	C	A	19: 5,696,992 (GRCm39)	P400T	probably benign	Het
Rpusd4	T	C	9: 35,179,334 (GRCm39)	L50P	probably damaging	Het
Sema3c	A	G	5: 17,877,430 (GRCm39)	E179G	probably damaging	Het
Skint5	T	A	4: 113,374,330 (GRCm39)	D1253V	unknown	Het
Sp4	G	T	12: 118,201,913 (GRCm39)	P771H	probably damaging	Het
Sphkap	T	A	1: 83,256,099 (GRCm39)	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,453,687 (GRCm39)	V78I	probably benign	Het
St3gal6	A	G	16: 58,306,769 (GRCm39)	I87T	probably benign	Het
Tango6	T	A	8: 107,545,129 (GRCm39)	D997E	probably benign	Het
Tpr	C	T	1: 150,321,639 (GRCm39)	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,291,936 (GRCm39)	F212Y	probably damaging	Het
Ubc	A	G	5: 125,465,324 (GRCm39)	M1T	probably null	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Yes1	T	C	5: 32,809,030 (GRCm39)	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,993,444 (GRCm39)	T830A	probably benign	Het
Zbtb41	T	A	1: 139,358,044 (GRCm39)	F451I	possibly damaging	Het
Zfp995	C	T	17: 22,099,493 (GRCm39)	C247Y	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
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
R7759:Scn10a	UTSW	9	119,477,198 (GRCm39)	nonsense	probably null
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'- CTGACATGCAAACTTACCCTG -3'
(R):5'- TGAAGCTGTTCTCCAGAGGC -3'

Sequencing Primer
(F):5'- GACTTCTCACTCAGTGCTTAAAG -3'
(R):5'- CCTTGCTGTGGGTCAGGACTC -3'

Posted On

2018-04-02