Mutagenetix > Incidental Mutation

Incidental Mutation 'R7875:Scn10a'

608387

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

045927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R7875 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119437522-119548388 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 119464508 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: 100.0%
10x: 99.7%
20x: 99.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,958,459 (GRCm39)	F102I	probably damaging	Het
Acp7	A	T	7: 28,314,152 (GRCm39)	Y348N	probably damaging	Het
Adgre4	A	T	17: 56,099,016 (GRCm39)	D174V	probably benign	Het
Ahdc1	A	G	4: 132,791,161 (GRCm39)	T801A	possibly damaging	Het
Aldh1a7	A	C	19: 20,693,343 (GRCm39)	V192G	possibly damaging	Het
Anp32b	T	G	4: 46,451,301 (GRCm39)	D2E	probably benign	Het
Arhgef11	A	T	3: 87,591,808 (GRCm39)	D53V	probably damaging	Het
Arid5b	T	C	10: 67,964,771 (GRCm39)	N300S	probably benign	Het
Ascc2	A	G	11: 4,618,389 (GRCm39)	N328S	probably benign	Het
Aspm	A	T	1: 139,382,872 (GRCm39)	Q68L	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccser1	A	T	6: 61,288,932 (GRCm39)	H365L	probably benign	Het
Col1a2	T	A	6: 4,518,500 (GRCm39)	N213K	unknown	Het
Col7a1	T	C	9: 108,787,763 (GRCm39)	V681A	unknown	Het
Cplane1	A	G	15: 8,239,446 (GRCm39)	I1216V	probably benign	Het
Dock9	A	T	14: 121,863,396 (GRCm39)	Y792*	probably null	Het
Fam241b	A	T	10: 61,970,271 (GRCm39)	S10R		Het
Gab1	C	T	8: 81,515,395 (GRCm39)	D308N	probably damaging	Het
Gdf11	C	T	10: 128,722,210 (GRCm39)	R215H	probably benign	Het
Gpc1	T	C	1: 92,782,970 (GRCm39)		probably null	Het
Hnf4a	G	T	2: 163,400,980 (GRCm39)	E200*	probably null	Het
Ints2	T	C	11: 86,103,888 (GRCm39)	T1086A	probably damaging	Het
Kbtbd7	A	G	14: 79,664,806 (GRCm39)	T213A	probably benign	Het
Kcnt2	A	G	1: 140,501,385 (GRCm39)	D917G	probably damaging	Het
Kdm5a	C	A	6: 120,375,979 (GRCm39)	Y578*	probably null	Het
Lrrtm4	A	T	6: 79,999,343 (GRCm39)	T252S	possibly damaging	Het
Mamdc4	C	T	2: 25,458,677 (GRCm39)	W305*	probably null	Het
Mzb1	A	G	18: 35,780,913 (GRCm39)	I125T	possibly damaging	Het
Nfrkb	A	G	9: 31,321,450 (GRCm39)	T716A	possibly damaging	Het
Or2ad1	T	A	13: 21,327,093 (GRCm39)	I45F	probably damaging	Het
Or4f6	A	G	2: 111,839,192 (GRCm39)	V113A	probably benign	Het
Or52r1b	A	G	7: 102,691,060 (GRCm39)	M120V	probably damaging	Het
Or8k16	G	A	2: 85,519,838 (GRCm39)	E22K	probably benign	Het
Plcxd2	G	A	16: 45,830,065 (GRCm39)	A52V	possibly damaging	Het
Poteg	C	T	8: 27,939,942 (GRCm39)	P95L	probably benign	Het
Prdm9	A	T	17: 15,773,804 (GRCm39)	Y322*	probably null	Het
Rab11fip2	G	C	19: 59,925,655 (GRCm39)	I187M	possibly damaging	Het
Ranbp2	G	T	10: 58,314,277 (GRCm39)	E1666*	probably null	Het
Rin3	T	C	12: 102,335,735 (GRCm39)	S549P	probably damaging	Het
Scn3a	A	G	2: 65,327,826 (GRCm39)	F888S	probably damaging	Het
Sik3	T	A	9: 46,034,528 (GRCm39)	I96N	probably damaging	Het
Slc12a7	T	A	13: 73,936,723 (GRCm39)	C128S	possibly damaging	Het
Spata31h1	T	C	10: 82,123,456 (GRCm39)	S3185G	possibly damaging	Het
Syde2	A	G	3: 145,726,020 (GRCm39)	E1304G	probably damaging	Het
Tagln	T	C	9: 45,841,680 (GRCm39)	I199V	probably damaging	Het
Tars3	T	A	7: 65,327,899 (GRCm39)	V536E	probably benign	Het
Tas2r140	A	G	6: 40,469,097 (GRCm39)	K309R	probably damaging	Het
Thra	A	T	11: 98,659,257 (GRCm39)	D462V	probably damaging	Het
Topaz1	A	G	9: 122,578,652 (GRCm39)	T521A	possibly damaging	Het
Uhrf1	A	G	17: 56,619,884 (GRCm39)	N265S	possibly damaging	Het
Upk3b	A	T	5: 136,069,057 (GRCm39)	Y142F	probably benign	Het
Vmn1r219	T	C	13: 23,347,363 (GRCm39)	V184A	possibly damaging	Het
Vmn1r58	T	C	7: 5,413,753 (GRCm39)	D159G	probably damaging	Het
Vnn3	C	A	10: 23,743,146 (GRCm39)	A452D	possibly damaging	Het
Wscd1	T	A	11: 71,679,560 (GRCm39)	Y478N	probably damaging	Het
Xrcc5	C	T	1: 72,369,090 (GRCm39)	R315C	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	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
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
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'- CACCTGTGTCCTGTACTGAC -3'
(R):5'- GATGCTGTCAATGCTGCAGTG -3'

Sequencing Primer
(F):5'- GTCCTGTACTGACTAATGAGCATCAG -3'
(R):5'- TCAATGCTGCAGTGGGGAAC -3'

Posted On

2019-12-20