Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Scn10a'

320859

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R4231 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

119608456-119719322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119631544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1088 (T1088K)

Ref Sequence

ENSEMBL: ENSMUSP00000148987 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084787
AA Change: T1089K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: T1089K

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: T1088K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214408
AA Change: T1089K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.2690

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Scn10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Scn10a	APN	9	119672226	missense	probably damaging	1.00
IGL01339:Scn10a	APN	9	119622766	missense	probably damaging	1.00
IGL01467:Scn10a	APN	9	119658412	missense	probably benign	0.33
IGL01472:Scn10a	APN	9	119617763	missense	probably damaging	1.00
IGL01481:Scn10a	APN	9	119609194	missense	probably damaging	1.00
IGL01539:Scn10a	APN	9	119638698	missense	probably damaging	0.99
IGL01580:Scn10a	APN	9	119627159	missense	probably damaging	1.00
IGL01676:Scn10a	APN	9	119672165	nonsense	probably null
IGL01681:Scn10a	APN	9	119694077	missense	probably damaging	1.00
IGL01748:Scn10a	APN	9	119627084	missense	probably damaging	1.00
IGL01866:Scn10a	APN	9	119635502	nonsense	probably null
IGL01998:Scn10a	APN	9	119609676	missense	probably damaging	1.00
IGL02015:Scn10a	APN	9	119664951	missense	probably benign	0.09
IGL02098:Scn10a	APN	9	119691478	missense	possibly damaging	0.90
IGL02113:Scn10a	APN	9	119609890	missense	probably damaging	1.00
IGL02245:Scn10a	APN	9	119672152	missense	probably damaging	1.00
IGL02262:Scn10a	APN	9	119658433	missense	possibly damaging	0.92
IGL02317:Scn10a	APN	9	119638555	missense	probably benign	0.00
IGL02428:Scn10a	APN	9	119691562	missense	probably damaging	1.00
IGL02439:Scn10a	APN	9	119618848	missense	probably benign	0.40
IGL02583:Scn10a	APN	9	119691440	splice site	probably benign
IGL02597:Scn10a	APN	9	119610123	missense	probably damaging	0.99
IGL02680:Scn10a	APN	9	119666059	missense	probably damaging	1.00
IGL02733:Scn10a	APN	9	119616705	missense	probably damaging	1.00
IGL02851:Scn10a	APN	9	119671608	missense	probably damaging	1.00
IGL02992:Scn10a	APN	9	119609560	missense	possibly damaging	0.90
IGL03040:Scn10a	APN	9	119622985	missense	probably damaging	1.00
IGL03049:Scn10a	APN	9	119665990	missense	probably damaging	1.00
IGL03407:Scn10a	APN	9	119648171	missense	probably damaging	0.99
possum	UTSW	9	119638705	missense	probably damaging	1.00
R0025:Scn10a	UTSW	9	119670484	missense	probably damaging	1.00
R0030:Scn10a	UTSW	9	119669990	missense	probably benign	0.01
R0328:Scn10a	UTSW	9	119694102	missense	possibly damaging	0.92
R0494:Scn10a	UTSW	9	119624100	missense	probably damaging	1.00
R0511:Scn10a	UTSW	9	119613700	missense	probably damaging	0.99
R0548:Scn10a	UTSW	9	119665928	missense	probably benign	0.00
R0584:Scn10a	UTSW	9	119670531	missense	probably damaging	1.00
R0595:Scn10a	UTSW	9	119666063	missense	probably benign	0.01
R0894:Scn10a	UTSW	9	119630147	missense	probably damaging	1.00
R1022:Scn10a	UTSW	9	119609274	missense	probably damaging	1.00
R1024:Scn10a	UTSW	9	119609274	missense	probably damaging	1.00
R1263:Scn10a	UTSW	9	119617733	missense	probably damaging	1.00
R1456:Scn10a	UTSW	9	119691478	missense	probably benign	0.01
R1466:Scn10a	UTSW	9	119666490	missense	probably damaging	1.00
R1466:Scn10a	UTSW	9	119666490	missense	probably damaging	1.00
R1573:Scn10a	UTSW	9	119613626	missense	probably benign	0.04
R1704:Scn10a	UTSW	9	119609394	missense	probably damaging	1.00
R1933:Scn10a	UTSW	9	119609998	missense	probably damaging	1.00
R1945:Scn10a	UTSW	9	119691454	missense	possibly damaging	0.91
R2013:Scn10a	UTSW	9	119613736	missense	probably damaging	0.99
R2155:Scn10a	UTSW	9	119609448	missense	probably benign	0.02
R2196:Scn10a	UTSW	9	119609004	missense	probably benign
R2231:Scn10a	UTSW	9	119633850	missense	possibly damaging	0.73
R2353:Scn10a	UTSW	9	119638687	missense	probably damaging	1.00
R2392:Scn10a	UTSW	9	119627202	missense	possibly damaging	0.86
R2895:Scn10a	UTSW	9	119661401	missense	probably benign	0.00
R2926:Scn10a	UTSW	9	119638701	missense	possibly damaging	0.93
R3783:Scn10a	UTSW	9	119691562	missense	probably damaging	1.00
R3821:Scn10a	UTSW	9	119638633	missense	probably benign
R4003:Scn10a	UTSW	9	119608968	missense	probably null	0.00
R4208:Scn10a	UTSW	9	119616776	missense	probably damaging	0.99
R4626:Scn10a	UTSW	9	119631505	missense	possibly damaging	0.87
R4702:Scn10a	UTSW	9	119633791	missense	possibly damaging	0.59
R4713:Scn10a	UTSW	9	119609651	missense	probably damaging	1.00
R4729:Scn10a	UTSW	9	119671526	missense	probably damaging	1.00
R4782:Scn10a	UTSW	9	119622910	missense	possibly damaging	0.70
R4822:Scn10a	UTSW	9	119638672	missense	probably damaging	1.00
R4856:Scn10a	UTSW	9	119694309	missense	possibly damaging	0.46
R4856:Scn10a	UTSW	9	119694310	missense	possibly damaging	0.63
R4932:Scn10a	UTSW	9	119687874	splice site	probably null
R5015:Scn10a	UTSW	9	119622921	missense	possibly damaging	0.93
R5193:Scn10a	UTSW	9	119609655	missense	probably damaging	1.00
R5211:Scn10a	UTSW	9	119661232	missense	possibly damaging	0.87
R5320:Scn10a	UTSW	9	119648109	missense	probably damaging	1.00
R5400:Scn10a	UTSW	9	119609034	missense	probably damaging	0.99
R5448:Scn10a	UTSW	9	119687947	missense	probably benign	0.25
R5457:Scn10a	UTSW	9	119694127	missense	probably damaging	1.00
R5554:Scn10a	UTSW	9	119694130	missense	probably benign	0.01
R5680:Scn10a	UTSW	9	119624136	missense	probably damaging	1.00
R5762:Scn10a	UTSW	9	119635441	critical splice donor site	probably null
R5935:Scn10a	UTSW	9	119627171	missense	probably damaging	0.99
R5956:Scn10a	UTSW	9	119631560	missense	probably damaging	1.00
R6041:Scn10a	UTSW	9	119609469	missense	probably damaging	1.00
R6047:Scn10a	UTSW	9	119622831	missense	probably benign	0.20
R6132:Scn10a	UTSW	9	119613695	missense	possibly damaging	0.94
R6156:Scn10a	UTSW	9	119635583	missense	probably benign	0.00
R6309:Scn10a	UTSW	9	119624115	missense	possibly damaging	0.95
R6318:Scn10a	UTSW	9	119627115	missense	probably damaging	1.00
R6394:Scn10a	UTSW	9	119661320	missense	probably benign	0.36
R6711:Scn10a	UTSW	9	119609913	missense	probably damaging	1.00
R6751:Scn10a	UTSW	9	119671551	missense	probably damaging	1.00
R6877:Scn10a	UTSW	9	119609782	missense	probably damaging	0.96
R6909:Scn10a	UTSW	9	119609790	missense	probably damaging	1.00
R7023:Scn10a	UTSW	9	119613544	missense	probably damaging	0.99
R7205:Scn10a	UTSW	9	119613550	missense	probably damaging	0.99
R7254:Scn10a	UTSW	9	119618855	missense	probably damaging	0.99
R7261:Scn10a	UTSW	9	119609724	missense	probably damaging	0.97
R7283:Scn10a	UTSW	9	119664779	critical splice donor site	probably null
R7453:Scn10a	UTSW	9	119638552	missense	probably benign
R7561:Scn10a	UTSW	9	119694324	start codon destroyed	probably null	0.66
R7590:Scn10a	UTSW	9	119666400	missense	probably damaging	1.00
R7759:Scn10a	UTSW	9	119648132	nonsense	probably null
R7765:Scn10a	UTSW	9	119609904	missense	possibly damaging	0.90
R7851:Scn10a	UTSW	9	119617762	missense	probably damaging	0.99
R7875:Scn10a	UTSW	9	119635442	critical splice donor site	probably null
R7975:Scn10a	UTSW	9	119672220	missense	probably benign	0.31
R8010:Scn10a	UTSW	9	119661167	missense	possibly damaging	0.56
R8027:Scn10a	UTSW	9	119633790	missense	probably damaging	0.99
R8221:Scn10a	UTSW	9	119617763	missense	probably damaging	1.00
R8249:Scn10a	UTSW	9	119617774	missense	probably damaging	1.00
R8319:Scn10a	UTSW	9	119670389	missense	probably benign	0.04
R8323:Scn10a	UTSW	9	119609396	missense	possibly damaging	0.95
R8539:Scn10a	UTSW	9	119638774	nonsense	probably null
R8679:Scn10a	UTSW	9	119672128	missense	probably damaging	0.97
R8680:Scn10a	UTSW	9	119691443	critical splice donor site	probably null
R8844:Scn10a	UTSW	9	119617725	missense	probably damaging	0.98
R9011:Scn10a	UTSW	9	119630094	missense	probably damaging	0.99
R9055:Scn10a	UTSW	9	119622892	missense	probably damaging	0.98
R9206:Scn10a	UTSW	9	119616761	missense	probably damaging	1.00
X0058:Scn10a	UTSW	9	119609364	nonsense	probably null
Z1177:Scn10a	UTSW	9	119624145	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GATGTCCCAACTGGTGTGAG -3'
(R):5'- GTGTTGAGACCCAAACACACG -3'

Sequencing Primer
(F):5'- CAGGTCATGGTTCTGGACACAG -3'
(R):5'- TGAGACCCAAACACACGAGGATG -3'

Posted On

2015-06-12