Mutagenetix > Incidental Mutation

Incidental Mutation 'R4702:Scn10a'

356144

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

041950-MU

Accession Numbers

Essential gene?

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

Stock #

R4702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119437522-119548388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119462857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1060 (Y1060N)

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 benign
Transcript: ENSMUST00000084787
AA Change: Y1061N

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: Y1061N

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

possibly damaging
Transcript: ENSMUST00000213392
AA Change: Y1060N

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000214408
AA Change: Y1061N

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,509 (GRCm39)	T390A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Adra1a	T	C	14: 66,875,008 (GRCm39)		probably benign	Het
Aff1	T	C	5: 103,958,935 (GRCm39)	Y343H	probably damaging	Het
Antxr2	C	T	5: 98,097,028 (GRCm39)		probably null	Het
Ap1m2	A	G	9: 21,209,591 (GRCm39)	F362L	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Armc3	A	G	2: 19,314,792 (GRCm39)	N822S	probably damaging	Het
Atr	A	C	9: 95,802,408 (GRCm39)	T1767P	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bloc1s1	T	A	10: 128,759,267 (GRCm39)	Q13L	probably damaging	Het
Blvra	A	C	2: 126,933,982 (GRCm39)	I125L	probably benign	Het
Caps2	T	C	10: 112,044,252 (GRCm39)	F484L	probably damaging	Het
Cep76	A	T	18: 67,767,968 (GRCm39)	I188K	possibly damaging	Het
Cidea	T	A	18: 67,500,498 (GRCm39)	F187I	probably benign	Het
Cntn3	T	A	6: 102,142,292 (GRCm39)	N1025I	probably benign	Het
Cntnap3	A	T	13: 64,926,676 (GRCm39)	C565S	probably benign	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Cyp2d26	C	T	15: 82,676,648 (GRCm39)		probably benign	Het
Cyp2j12	A	T	4: 96,021,230 (GRCm39)		probably null	Het
Dnajb13	T	C	7: 100,153,748 (GRCm39)	N229S	probably benign	Het
Dpys	A	G	15: 39,656,798 (GRCm39)	V423A	possibly damaging	Het
Eif4e1b	A	T	13: 54,935,138 (GRCm39)	I222F	probably damaging	Het
Eif5b	A	T	1: 38,057,958 (GRCm39)	N87Y	unknown	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epha7	T	A	4: 28,961,425 (GRCm39)	L890Q	probably damaging	Het
Fancm	T	A	12: 65,168,826 (GRCm39)	S1730T	possibly damaging	Het
Flrt3	A	G	2: 140,503,575 (GRCm39)	F18L	probably benign	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
H2-M10.4	A	G	17: 36,772,874 (GRCm39)	I36T	probably benign	Het
Igfn1	G	A	1: 135,894,947 (GRCm39)	S1873L	possibly damaging	Het
Ints12	A	T	3: 132,802,546 (GRCm39)	D10V	probably damaging	Het
Kbtbd2	A	G	6: 56,756,288 (GRCm39)	S483P	probably benign	Het
Kcnv2	G	C	19: 27,300,967 (GRCm39)	A273P	probably damaging	Het
Klc3	T	G	7: 19,129,756 (GRCm39)	D371A	probably damaging	Het
Lama3	T	A	18: 12,711,086 (GRCm39)	L1567*	probably null	Het
Ldhal6b	G	T	17: 5,468,582 (GRCm39)	H117Q	probably damaging	Het
Lrriq1	G	T	10: 103,051,610 (GRCm39)	Q381K	possibly damaging	Het
Mrps31	T	A	8: 22,909,754 (GRCm39)	L140Q	probably damaging	Het
Myo15b	A	G	11: 115,774,834 (GRCm39)	T2119A	probably benign	Het
Nkx6-2	T	C	7: 139,161,456 (GRCm39)	D243G	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Papln	C	T	12: 83,828,757 (GRCm39)	T821I	probably benign	Het
Pitpnb	T	G	5: 111,519,218 (GRCm39)	V166G	probably benign	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plcxd3	C	A	15: 4,405,269 (GRCm39)	S25R	probably benign	Het
Ppargc1a	T	C	5: 51,653,038 (GRCm39)	I175V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,799,715 (GRCm39)	Q687H	probably benign	Het
Prpf3	A	G	3: 95,741,404 (GRCm39)	V584A	probably damaging	Het
Psen2	A	G	1: 180,055,289 (GRCm39)	L399S	probably damaging	Het
Ptchd3	G	A	11: 121,727,235 (GRCm39)	V370I	probably damaging	Het
Rasa3	G	T	8: 13,620,394 (GRCm39)	D758E	probably benign	Het
Reck	T	C	4: 43,898,060 (GRCm39)	C113R	probably damaging	Het
Resf1	A	G	6: 149,230,901 (GRCm39)	T1316A	probably benign	Het
Ric1	T	A	19: 29,575,417 (GRCm39)	F1009I	possibly damaging	Het
Rrp12	T	C	19: 41,859,975 (GRCm39)	N1035S	probably damaging	Het
Rtel1	T	A	2: 180,993,962 (GRCm39)	S849T	probably benign	Het
Selenov	A	G	7: 27,987,436 (GRCm39)	L314P	probably damaging	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc7a14	T	A	3: 31,284,547 (GRCm39)	Y263F	probably damaging	Het
Slco3a1	A	G	7: 73,970,315 (GRCm39)	S431P	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Spopl	A	T	2: 23,405,309 (GRCm39)		probably null	Het
Stk10	A	T	11: 32,505,172 (GRCm39)	T69S	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tec	G	A	5: 72,941,074 (GRCm39)	P161L	possibly damaging	Het
Tnip1	A	G	11: 54,815,228 (GRCm39)	S339P	probably benign	Het
Tsen34	T	A	7: 3,703,632 (GRCm39)	V290D	probably damaging	Het
Tuba1a	T	A	15: 98,849,563 (GRCm39)	I5F	possibly damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn1r63	T	C	7: 5,806,516 (GRCm39)	R39G	possibly damaging	Het
Xylt2	A	G	11: 94,560,355 (GRCm39)	Y307H	possibly damaging	Het
Zfp65	A	G	13: 67,872,341 (GRCm39)	M1T	probably null	Het
Zmym4	T	C	4: 126,816,958 (GRCm39)	I247V	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
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
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'- TCCTCACAACTAGGAAGGGG -3'
(R):5'- TGCACATGTGAAGAGCTTAGC -3'

Sequencing Primer
(F):5'- CCAATGTAGCATTGTGTGAGTCACC -3'
(R):5'- GCAGCAAGTCCAAAAGTG -3'

Posted On

2015-10-21