Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Scn10a'

565805

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

045361-MU

Accession Numbers

Essential gene?

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

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119437522-119548388 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 119493845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533

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

Predicted Effect

probably null
Transcript: ENSMUST00000214408

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,700,504 (GRCm39)	V278A	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abce1	C	A	8: 80,411,885 (GRCm39)	G592*	probably null	Het
Acad10	A	C	5: 121,787,538 (GRCm39)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,253,563 (GRCm39)	I672V	not run	Het
Adgrb1	A	T	15: 74,452,512 (GRCm39)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,768,955 (GRCm39)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,537,469 (GRCm39)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,652 (GRCm39)	T33I	probably damaging	Het
Bicra	T	C	7: 15,706,425 (GRCm39)	T1339A	probably damaging	Het
Bltp2	A	G	11: 78,165,654 (GRCm39)	Q1346R	probably damaging	Het
Cacna1s	A	G	1: 136,001,446 (GRCm39)	Y299C	probably damaging	Het
Clip1	A	C	5: 123,751,857 (GRCm39)	C641W		Het
Clip3	T	C	7: 30,005,237 (GRCm39)	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,191,144 (GRCm39)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,466,339 (GRCm39)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,903,818 (GRCm39)	N280I	probably benign	Het
Diaph3	A	G	14: 87,104,020 (GRCm39)	F788S	probably damaging	Het
Drc7	A	G	8: 95,798,207 (GRCm39)	N484S	probably damaging	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fat4	A	T	3: 38,943,842 (GRCm39)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,649,673 (GRCm39)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,812,061 (GRCm39)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm39)		probably null	Het
Ipo8	T	A	6: 148,725,979 (GRCm39)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,100,693 (GRCm39)	M1T	probably null	Het
Klrb1c	A	T	6: 128,761,220 (GRCm39)	C136S	probably benign	Het
Morn2	A	G	17: 80,604,688 (GRCm39)	E48G	probably damaging	Het
Myh1	A	T	11: 67,092,670 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,686,393 (GRCm39)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,765,741 (GRCm39)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,343,352 (GRCm39)	R76*	probably null	Het
Or1e1f	T	C	11: 73,855,634 (GRCm39)	S67P	probably damaging	Het
Or52n1	G	T	7: 104,382,800 (GRCm39)	T257K	probably damaging	Het
Or5h22	A	T	16: 58,894,555 (GRCm39)	M296K	probably benign	Het
Or7e176	A	C	9: 20,171,555 (GRCm39)	I140L	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Papolg	A	G	11: 23,817,394 (GRCm39)	V601A	not run	Het
Pde4dip	T	C	3: 97,666,198 (GRCm39)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,017,741 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,366,676 (GRCm39)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,546,401 (GRCm39)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,327,191 (GRCm39)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,231,471 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,535,628 (GRCm39)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm39)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,610,261 (GRCm39)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,263,342 (GRCm39)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,354,469 (GRCm39)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,449,892 (GRCm39)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm39)	G240R	probably damaging	Het
Serpina16	A	C	12: 103,638,691 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,039,831 (GRCm39)	M290L		Het
Slc6a4	A	T	11: 76,901,522 (GRCm39)	M86L	probably benign	Het
Spag7	A	T	11: 70,556,139 (GRCm39)	V46E	probably benign	Het
Spata31h1	G	A	10: 82,127,131 (GRCm39)	R1960W	possibly damaging	Het
Sptlc1	T	C	13: 53,498,914 (GRCm39)	I271V	probably benign	Het
Stk17b	A	C	1: 53,796,674 (GRCm39)	H364Q	probably benign	Het
Strc	T	C	2: 121,209,933 (GRCm39)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,705,026 (GRCm39)	D148V	probably damaging	Het
Tirap	G	A	9: 35,100,225 (GRCm39)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem51	T	A	4: 141,759,094 (GRCm39)	D218V	probably damaging	Het
Trim40	A	T	17: 37,193,554 (GRCm39)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,039,062 (GRCm39)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,002,914 (GRCm39)	L108P	probably damaging	Het
Washc2	C	A	6: 116,204,379 (GRCm39)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,502,137 (GRCm39)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm39)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,273,493 (GRCm39)	A724G	unknown	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
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'- AGGGCCTTATCATTGATCCCC -3'
(R):5'- ATCAGTCAGATCCTGTGGGC -3'

Sequencing Primer
(F):5'- CTCCCCCACAACTGCTG -3'
(R):5'- TCAGATCCTGTGGGCTGCAAC -3'

Posted On

2019-06-26