Mutagenetix > Incidental Mutation

Incidental Mutation 'R3783:Scn10a'

272123

Institutional Source

Beutler Lab

Gene Symbol

Scn10a

Ensembl Gene

ENSMUSG00000034533

Gene Name

sodium channel, voltage-gated, type X, alpha

Synonyms

Nav1.8

MMRRC Submission

040875-MU

Accession Numbers

Essential gene?

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

Stock #

R3783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119608456-119719322 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119691562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

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: T91A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: T91A

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: T91A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213401

Predicted Effect

probably damaging
Transcript: ENSMUST00000214408
AA Change: T91A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216583

Meta Mutation Damage Score

0.1184

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap6	A	G	12: 52,880,769	H154R	probably damaging	Het
Aoc1	T	C	6: 48,905,655	L177P	probably damaging	Het
Ascc3	A	G	10: 50,728,254	T1357A	probably damaging	Het
Atp13a3	A	T	16: 30,354,249	V270D	probably damaging	Het
BC055324	A	T	1: 163,987,683	C90S	probably benign	Het
Carmil3	T	C	14: 55,496,976	F418S	probably damaging	Het
Ccdc93	A	G	1: 121,437,869	N77S	probably damaging	Het
Cpt1b	T	C	15: 89,425,189	K47R	probably damaging	Het
Cyp4f14	A	G	17: 32,916,762	Y42H	probably benign	Het
Dmxl1	G	A	18: 49,865,122	S763N	probably damaging	Het
Fam129a	C	T	1: 151,689,648	S243L	possibly damaging	Het
Fancd2	T	G	6: 113,565,204	S770A	probably damaging	Het
Flnb	T	G	14: 7,889,236	W529G	probably benign	Het
Fryl	T	C	5: 73,101,476	Y655C	probably benign	Het
Gml	C	T	15: 74,813,672	V155M	probably damaging	Het
Gpr174	A	G	X: 107,293,064	T161A	probably benign	Het
Heatr1	G	T	13: 12,434,460	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,647,686	L461P	probably damaging	Het
Isy1	T	C	6: 87,821,545	E209G	possibly damaging	Het
Kdm5b	A	G	1: 134,630,542	H1429R	probably benign	Het
Magi2	C	T	5: 20,465,909	T580M	probably damaging	Het
Map3k1	C	T	13: 111,756,220	V834I	probably benign	Het
Mdn1	A	T	4: 32,720,818	E2310D	probably benign	Het
Myo15	A	T	11: 60,477,572	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,454,595	N148I	probably damaging	Het
Nsa2	G	T	13: 97,135,534	Q60K	possibly damaging	Het
Pcdha1	T	A	18: 36,930,802	L173Q	probably damaging	Het
Pdpk1	T	C	17: 24,110,850	T71A	possibly damaging	Het
Plxna2	T	A	1: 194,807,521	V1692E	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Psg27	T	A	7: 18,560,354	Q376L	probably damaging	Het
Psmd4	T	C	3: 95,035,251	D6G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rala	T	A	13: 17,882,446	E185V	probably benign	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Synrg	T	C	11: 84,001,920	F613S	probably damaging	Het
Tekt1	A	G	11: 72,344,894	I376T	probably damaging	Het
Tet2	T	C	3: 133,479,363	K1182R	possibly damaging	Het
Thbs4	T	C	13: 92,773,164	N375S	probably benign	Het
Thoc5	A	G	11: 4,920,372		probably benign	Het
Tmprss9	G	T	10: 80,887,467	V254F	probably damaging	Het
Tro	G	A	X: 150,655,052	T203I	possibly damaging	Het
Ttbk2	A	T	2: 120,773,815		probably benign	Het
Usf2	A	G	7: 30,955,831	V133A	probably benign	Het
Wap	G	A	11: 6,638,550	Q25*	probably null	Het
Xdh	C	T	17: 73,893,595		probably benign	Het
Xrn1	G	T	9: 95,969,285	M153I	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
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
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
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'- CTGCATTCTAAGAAAGGCGCC -3'
(R):5'- TGCCCATGAAGCACTCTCAG -3'

Sequencing Primer
(F):5'- TTCTAAGAAAGGCGCCAGACAC -3'
(R):5'- CTTGCCCGTGGTTCATAGTCAG -3'

Posted On

2015-03-25