Mutagenetix > Incidental Mutation

Incidental Mutation 'R6309:Scn10a'

509734

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6309 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119608456-119719322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119624115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1237 (I1237T)

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: I1238T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: I1238T

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: I1237T

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000214408
AA Change: I1238T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

92% (35/38)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,969,393		probably null	Het
Ak4	T	C	4: 101,463,662	Y223H	probably benign	Het
Armc4	A	G	18: 7,214,617	V728A	probably benign	Het
Cerk	T	C	15: 86,156,668		probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Col18a1	A	G	10: 77,112,742		probably benign	Het
Cpeb3	T	G	19: 37,044,689	I569L	possibly damaging	Het
Dis3	A	T	14: 99,085,922	N569K	probably benign	Het
Erich5	T	C	15: 34,471,456	L277P	probably benign	Het
Fam171b	T	C	2: 83,860,460	S256P	probably damaging	Het
Glis3	A	G	19: 28,317,361	V679A	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm8212	A	G	14: 44,201,179		probably benign	Het
Grin2b	T	A	6: 135,733,027	T1174S	probably benign	Het
Hipk2	T	C	6: 38,698,511	Y1045C	probably damaging	Het
Hsf2	C	T	10: 57,486,580		probably benign	Het
Ighv1-4	G	T	12: 114,487,395	A31E	probably benign	Het
Il11ra1	A	G	4: 41,765,279	K151E	possibly damaging	Het
Inpp4b	T	A	8: 82,041,917	M685K	probably damaging	Het
Itga4	T	A	2: 79,279,085	D209E	probably damaging	Het
L1td1	T	C	4: 98,737,091	S508P	probably damaging	Het
Lrrn3	G	A	12: 41,453,206	R371C	probably damaging	Het
Nbeal1	A	G	1: 60,238,719	T755A	probably benign	Het
Olfr129	T	A	17: 38,055,152	Y138F	probably damaging	Het
Olfr134	T	C	17: 38,175,519	V145A	probably benign	Het
Phf24	A	G	4: 42,933,960	D14G	probably damaging	Het
Prkd1	A	T	12: 50,394,660	C314*	probably null	Het
Rnf187	A	T	11: 58,937,160	S155T	possibly damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Homo
Sec16a	T	C	2: 26,438,571	N1144S	probably benign	Het
Sh3tc2	T	C	18: 61,968,010	V58A	probably damaging	Het
Slc37a3	T	C	6: 39,357,460	*84W	probably null	Het
Trpm2	T	A	10: 77,938,368	I466F	probably damaging	Het
Vmn2r108	T	A	17: 20,471,398	I288F	probably damaging	Het
Vmn2r67	T	C	7: 85,151,916	T271A	probably benign	Het
Vsig10l	A	G	7: 43,470,973		probably null	Het
Wdr95	A	G	5: 149,580,803		probably null	Het
Zfp960	T	C	17: 17,088,377	I451T	probably benign	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
R4231:Scn10a	UTSW	9	119631544	missense	probably damaging	0.98
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
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
R9615:Scn10a	UTSW	9	119658438	missense	possibly damaging	0.55
R9622:Scn10a	UTSW	9	119608980	missense	probably benign	0.11
R9641:Scn10a	UTSW	9	119616803	missense	possibly damaging	0.60
R9651:Scn10a	UTSW	9	119609997	missense	probably benign	0.17
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'- AACTGGAAGTGGGACCTGTC -3'
(R):5'- GGAATCATGGGTAGTGAATATCGTG -3'

Sequencing Primer
(F):5'- GGGACCTGTCACTTTGAGAC -3'
(R):5'- CGTGTGTTTGTGAAAATATAAAGTCC -3'

Posted On

2018-04-02