Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02851:Scn10a'

361889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

Accession Numbers

Essential gene?

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

Stock #

IGL02851

Quality Score

Status

Chromosome

Chromosomal Location

119437522-119548388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119500674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 202 (V202M)

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: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: V202M

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: V202M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214408
AA Change: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216583

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	T	C	12: 112,623,518 (GRCm39)	E314G	probably damaging	Het
Amtn	C	A	5: 88,529,481 (GRCm39)	Q106K	probably benign	Het
Birc6	T	C	17: 74,916,184 (GRCm39)	F1700S	probably damaging	Het
Brdt	T	C	5: 107,525,861 (GRCm39)	S905P	possibly damaging	Het
Ccdc68	C	T	18: 70,080,236 (GRCm39)	Q194*	probably null	Het
Cdc27	A	G	11: 104,417,807 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 119,401,897 (GRCm39)	T100A	probably benign	Het
Cdsn	A	G	17: 35,866,791 (GRCm39)	H440R	possibly damaging	Het
Cenpf	C	A	1: 189,390,227 (GRCm39)	D1202Y	probably damaging	Het
Chat	C	A	14: 32,180,570 (GRCm39)	V21L	probably benign	Het
Clca4c-ps	T	A	3: 144,585,493 (GRCm39)		noncoding transcript	Het
Cst9	A	G	2: 148,677,203 (GRCm39)	I25V	probably benign	Het
Dennd1b	C	A	1: 139,096,705 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,928,570 (GRCm39)		probably benign	Het
Dpp3	T	G	19: 4,973,159 (GRCm39)	Q145P	probably benign	Het
Elovl5	C	T	9: 77,888,784 (GRCm39)	T217M	probably damaging	Het
Etl4	T	C	2: 20,812,840 (GRCm39)	V906A	possibly damaging	Het
Gm10647	C	T	9: 66,705,543 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,918 (GRCm39)	N736S	probably damaging	Het
Hectd1	A	G	12: 51,814,423 (GRCm39)	S1638P	possibly damaging	Het
Hsd3b2	T	G	3: 98,623,740 (GRCm39)	E46A	possibly damaging	Het
Igkv15-103	A	G	6: 68,414,674 (GRCm39)	T38A	probably benign	Het
Itpr2	C	A	6: 146,287,477 (GRCm39)	V450L	probably damaging	Het
Kbtbd12	T	C	6: 88,595,311 (GRCm39)	H173R	probably benign	Het
Man1a	G	A	10: 53,795,340 (GRCm39)	R638W	probably damaging	Het
Mterf2	A	T	10: 84,955,878 (GRCm39)	S249T	probably damaging	Het
Muc6	T	C	7: 141,234,627 (GRCm39)	D700G	probably damaging	Het
Myh13	A	G	11: 67,239,742 (GRCm39)	H764R	possibly damaging	Het
Myh7b	A	G	2: 155,470,747 (GRCm39)	D1065G	probably damaging	Het
Naip1	C	A	13: 100,569,770 (GRCm39)	W288L	probably damaging	Het
Naip6	C	A	13: 100,437,168 (GRCm39)	A452S	probably benign	Het
Nop2	A	C	6: 125,121,048 (GRCm39)	K610T	possibly damaging	Het
Nop2	G	T	6: 125,121,033 (GRCm39)	G605V	probably benign	Het
Npvf	G	A	6: 50,629,670 (GRCm39)	R107W	probably benign	Het
Or10h28	T	A	17: 33,488,328 (GRCm39)	I210K	probably benign	Het
Or2h2	T	C	17: 37,397,048 (GRCm39)		probably null	Het
Os9	G	A	10: 126,935,262 (GRCm39)		probably benign	Het
Parp4	T	C	14: 56,886,326 (GRCm39)	S1802P	unknown	Het
Piezo2	G	A	18: 63,153,704 (GRCm39)	S2547F	probably benign	Het
Plekha7	G	T	7: 115,734,413 (GRCm39)	A1024E	probably damaging	Het
R3hdm1	T	C	1: 128,102,677 (GRCm39)		probably benign	Het
Robo4	T	C	9: 37,324,678 (GRCm39)	S1022P	probably damaging	Het
Sc5d	T	C	9: 42,166,690 (GRCm39)	N283S	probably benign	Het
Slco1a8	C	T	6: 141,949,197 (GRCm39)	G60R	probably damaging	Het
Spag16	T	C	1: 70,304,067 (GRCm39)	I366T	possibly damaging	Het
Sptbn4	G	A	7: 27,126,258 (GRCm39)	R222C	possibly damaging	Het
Tlr9	C	T	9: 106,101,929 (GRCm39)	Q407*	probably null	Het
Trappc12	G	A	12: 28,741,405 (GRCm39)	S768L	probably damaging	Het
Vmn2r44	A	T	7: 8,386,050 (GRCm39)	L63Q	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	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
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
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

Posted On

2015-12-18