Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Scn9a'

643508

Institutional Source

Beutler Lab

Gene Symbol

Scn9a

Ensembl Gene

ENSMUSG00000075316

Gene Name

sodium channel, voltage-gated, type IX, alpha

Synonyms

PN1

MMRRC Submission

045977-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

66480080-66634962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66504849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1265 (D1265E)

Ref Sequence

ENSEMBL: ENSMUSP00000097642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100063] [ENSMUST00000100064] [ENSMUST00000112354] [ENSMUST00000164384] [ENSMUST00000169900]

AlphaFold

Q62205

Predicted Effect

probably damaging
Transcript: ENSMUST00000100063
AA Change: D1256E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097641
Gene: ENSMUSG00000075316
AA Change: D1256E

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	403	9.5e-78	PFAM
coiled coil region	404	442	N/A	INTRINSIC
Pfam:DUF3451	465	685	1.3e-62	PFAM
Pfam:Ion_trans	768	957	9.9e-48	PFAM
Pfam:Na_trans_assoc	972	1191	2.9e-72	PFAM
low complexity region	1203	1214	N/A	INTRINSIC
Pfam:Ion_trans	1217	1445	2.8e-55	PFAM
PDB:1BYY\|A	1447	1499	9e-27	PDB
Pfam:Ion_trans	1538	1748	3.4e-52	PFAM
Pfam:PKD_channel	1599	1755	1.1e-7	PFAM
IQ	1877	1899	1.03e-3	SMART
low complexity region	1956	1972	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100064
AA Change: D1265E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097642
Gene: ENSMUSG00000075316
AA Change: D1265E

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	125	412	2.2e-84	PFAM
low complexity region	433	446	N/A	INTRINSIC
Pfam:Na_trans_cytopl	483	693	7.5e-76	PFAM
Pfam:Ion_trans	742	977	4.1e-57	PFAM
Pfam:Na_trans_assoc	981	1185	1.4e-58	PFAM
Pfam:Ion_trans	1189	1466	7e-67	PFAM
Pfam:Ion_trans	1512	1769	1e-55	PFAM
Pfam:PKD_channel	1605	1763	2.6e-7	PFAM
IQ	1886	1908	1.03e-3	SMART
low complexity region	1965	1981	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112354
AA Change: D1254E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107973
Gene: ENSMUSG00000075316
AA Change: D1254E

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	401	1.2e-77	PFAM
coiled coil region	402	449	N/A	INTRINSIC
Pfam:DUF3451	463	683	1.3e-62	PFAM
Pfam:Ion_trans	766	955	9.9e-48	PFAM
Pfam:Na_trans_assoc	970	1189	2.9e-72	PFAM
low complexity region	1201	1212	N/A	INTRINSIC
Pfam:Ion_trans	1215	1443	2.8e-55	PFAM
PDB:1BYY\|A	1445	1497	7e-29	PDB
Pfam:Ion_trans	1536	1746	3.4e-52	PFAM
Pfam:PKD_channel	1597	1753	1.1e-7	PFAM
IQ	1875	1897	1.03e-3	SMART
low complexity region	1954	1970	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164384
AA Change: D1265E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126528
Gene: ENSMUSG00000075316
AA Change: D1265E

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	401	1.1e-77	PFAM
coiled coil region	402	449	N/A	INTRINSIC
Pfam:DUF3451	463	694	4.2e-66	PFAM
Pfam:Ion_trans	777	966	8.8e-48	PFAM
Pfam:Na_trans_assoc	981	1200	6e-72	PFAM
low complexity region	1212	1223	N/A	INTRINSIC
Pfam:Ion_trans	1226	1454	2.5e-55	PFAM
PDB:1BYY\|A	1456	1508	6e-29	PDB
Pfam:Ion_trans	1547	1757	3e-52	PFAM
Pfam:PKD_channel	1608	1764	8.1e-8	PFAM
IQ	1886	1908	1.03e-3	SMART
low complexity region	1965	1981	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169900
AA Change: D1254E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131711
Gene: ENSMUSG00000075316
AA Change: D1254E

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	401	3.7e-78	PFAM
coiled coil region	402	449	N/A	INTRINSIC
Pfam:DUF3451	463	683	1.3e-62	PFAM
Pfam:Ion_trans	766	955	9.9e-48	PFAM
Pfam:Na_trans_assoc	970	1189	2.9e-72	PFAM
low complexity region	1201	1212	N/A	INTRINSIC
Pfam:Ion_trans	1215	1443	2.8e-55	PFAM
PDB:1BYY\|A	1445	1497	7e-29	PDB
Pfam:Ion_trans	1536	1746	3.4e-52	PFAM
Pfam:PKD_channel	1597	1753	1.1e-7	PFAM
IQ	1875	1897	1.03e-3	SMART
low complexity region	1954	1970	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	T	5: 109,675,756 (GRCm38)	C609*	probably null	Het
Adam20	C	T	8: 40,797,070 (GRCm38)	T739I	probably benign	Het
Adam23	G	T	1: 63,585,427 (GRCm38)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,849,799 (GRCm38)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,779,125 (GRCm38)	E629G		Het
Ano4	T	A	10: 89,327,276 (GRCm38)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,069,997 (GRCm38)	V675A	probably damaging	Het
Brca2	A	G	5: 150,558,510 (GRCm38)	E2839G	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954 (GRCm38)		probably benign	Het
Capn5	C	T	7: 98,123,878 (GRCm38)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm38)	T23M	probably damaging	Het
Cerk	C	T	15: 86,144,719 (GRCm38)	E379K	possibly damaging	Het
Comp	G	A	8: 70,373,853 (GRCm38)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,395,062 (GRCm38)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,842,990 (GRCm38)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,648,623 (GRCm38)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 73,640,522 (GRCm38)		probably benign	Het
E2f6	T	A	12: 16,819,057 (GRCm38)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,861,740 (GRCm38)	D716E	probably benign	Het
Esp16	T	G	17: 39,539,977 (GRCm38)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,809,235 (GRCm38)	S2199A	probably benign	Het
Fscb	A	G	12: 64,472,563 (GRCm38)	S710P	unknown	Het
Gas7	A	G	11: 67,665,391 (GRCm38)	I185M	probably damaging	Het
Glg1	A	T	8: 111,160,735 (GRCm38)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,667,034 (GRCm38)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,484,422 (GRCm38)	N445D	probably benign	Het
Grin2c	A	T	11: 115,256,237 (GRCm38)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 119,699,963 (GRCm38)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,906,203 (GRCm38)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,609,183 (GRCm38)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,548,643 (GRCm38)	V467A	probably damaging	Het
Itgad	C	A	7: 128,183,108 (GRCm38)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,501 (GRCm38)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,399,952 (GRCm38)	D1630E	unknown	Het
Krt75	C	A	15: 101,564,883 (GRCm38)	*552L	probably null	Het
Mbd2	A	G	18: 70,568,877 (GRCm38)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,754,078 (GRCm38)		probably benign	Het
Mutyh	A	T	4: 116,816,956 (GRCm38)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,731,754 (GRCm38)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,253,785 (GRCm38)		probably null	Het
Nup205	T	G	6: 35,194,576 (GRCm38)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Olfr1061	T	A	2: 86,413,216 (GRCm38)	T279S	probably damaging	Het
Olfr1416	T	A	1: 92,479,848 (GRCm38)	M258L	probably benign	Het
Olfr1475	G	A	19: 13,479,655 (GRCm38)	P181L	probably damaging	Het
Olfr350	G	T	2: 36,850,273 (GRCm38)	V76F	probably damaging	Het
Olfr392	A	C	11: 73,815,100 (GRCm38)		probably benign	Het
Olfr521	A	T	7: 99,767,596 (GRCm38)	T145S	probably benign	Het
Olfr888	A	G	9: 38,108,968 (GRCm38)	N89S	possibly damaging	Het
Plcl2	T	G	17: 50,606,803 (GRCm38)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,472,922 (GRCm38)	Y618N	unknown	Het
Rab43	A	T	6: 87,811,366 (GRCm38)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,760,892 (GRCm38)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,307,590 (GRCm38)	E238D	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437 (GRCm38)		probably benign	Het
Sntb2	T	A	8: 107,001,637 (GRCm38)	S406T	probably damaging	Het
Sos1	T	C	17: 80,406,838 (GRCm38)	I1068V	probably benign	Het
Spg20	A	G	3: 55,128,276 (GRCm38)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,203,058 (GRCm38)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,534,030 (GRCm38)	T10S		Het
Txk	A	C	5: 72,735,193 (GRCm38)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,791,432 (GRCm38)		probably null	Het
Usp20	T	C	2: 31,010,544 (GRCm38)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm38)	N565K	possibly damaging	Het
Zfp709	G	T	8: 71,890,840 (GRCm38)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,649,625 (GRCm38)	Q562*	probably null	Het

Other mutations in Scn9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Scn9a	APN	2	66,563,601 (GRCm38)	missense	probably damaging	1.00
IGL00570:Scn9a	APN	2	66,484,142 (GRCm38)	missense	probably damaging	1.00
IGL00809:Scn9a	APN	2	66,483,935 (GRCm38)	missense	probably damaging	1.00
IGL00977:Scn9a	APN	2	66,484,301 (GRCm38)	missense	probably damaging	0.99
IGL01120:Scn9a	APN	2	66,526,972 (GRCm38)	missense	probably benign	0.00
IGL01134:Scn9a	APN	2	66,504,968 (GRCm38)	missense	probably damaging	1.00
IGL01300:Scn9a	APN	2	66,488,053 (GRCm38)	nonsense	probably null
IGL01452:Scn9a	APN	2	66,527,072 (GRCm38)	missense	probably damaging	1.00
IGL01531:Scn9a	APN	2	66,537,378 (GRCm38)	missense	probably benign	0.11
IGL01572:Scn9a	APN	2	66,493,886 (GRCm38)	missense	probably benign	0.00
IGL01645:Scn9a	APN	2	66,487,642 (GRCm38)	missense	possibly damaging	0.62
IGL01823:Scn9a	APN	2	66,484,042 (GRCm38)	missense	probably damaging	1.00
IGL01965:Scn9a	APN	2	66,484,433 (GRCm38)	missense	probably damaging	1.00
IGL02127:Scn9a	APN	2	66,494,826 (GRCm38)	missense	probably damaging	1.00
IGL02127:Scn9a	APN	2	66,547,135 (GRCm38)	missense	probably damaging	1.00
IGL02166:Scn9a	APN	2	66,493,103 (GRCm38)	missense	possibly damaging	0.95
IGL02183:Scn9a	APN	2	66,484,611 (GRCm38)	splice site	probably benign
IGL02640:Scn9a	APN	2	66,536,096 (GRCm38)	critical splice donor site	probably null
IGL02685:Scn9a	APN	2	66,537,293 (GRCm38)	missense	probably damaging	1.00
IGL02798:Scn9a	APN	2	66,540,559 (GRCm38)	missense	possibly damaging	0.52
IGL02832:Scn9a	APN	2	66,568,029 (GRCm38)	missense	probably damaging	1.00
IGL03008:Scn9a	APN	2	66,562,511 (GRCm38)	missense	probably damaging	1.00
IGL03270:Scn9a	APN	2	66,484,014 (GRCm38)	missense	probably damaging	1.00
IGL03408:Scn9a	APN	2	66,526,747 (GRCm38)	missense	probably benign	0.00
BB007:Scn9a	UTSW	2	66,504,849 (GRCm38)	missense	probably damaging	0.99
BB017:Scn9a	UTSW	2	66,504,849 (GRCm38)	missense	probably damaging	0.99
R0039:Scn9a	UTSW	2	66,562,444 (GRCm38)	missense	probably damaging	0.98
R0173:Scn9a	UTSW	2	66,533,093 (GRCm38)	missense	probably damaging	1.00
R0323:Scn9a	UTSW	2	66,568,131 (GRCm38)	missense	probably damaging	1.00
R0344:Scn9a	UTSW	2	66,505,010 (GRCm38)	missense	probably damaging	0.99
R0421:Scn9a	UTSW	2	66,543,277 (GRCm38)	missense	probably benign
R0465:Scn9a	UTSW	2	66,526,996 (GRCm38)	missense	probably damaging	1.00
R0514:Scn9a	UTSW	2	66,483,678 (GRCm38)	missense	probably damaging	1.00
R0599:Scn9a	UTSW	2	66,526,799 (GRCm38)	missense	probably damaging	0.96
R0627:Scn9a	UTSW	2	66,537,377 (GRCm38)	missense	probably benign	0.00
R0644:Scn9a	UTSW	2	66,533,061 (GRCm38)	critical splice donor site	probably null
R0653:Scn9a	UTSW	2	66,533,377 (GRCm38)	missense	probably damaging	1.00
R0685:Scn9a	UTSW	2	66,483,499 (GRCm38)	missense	probably benign	0.02
R0718:Scn9a	UTSW	2	66,547,112 (GRCm38)	missense	probably damaging	1.00
R0827:Scn9a	UTSW	2	66,536,124 (GRCm38)	nonsense	probably null
R0890:Scn9a	UTSW	2	66,483,735 (GRCm38)	missense	probably damaging	1.00
R1139:Scn9a	UTSW	2	66,504,997 (GRCm38)	missense	probably benign	0.02
R1385:Scn9a	UTSW	2	66,563,542 (GRCm38)	missense	probably damaging	1.00
R1398:Scn9a	UTSW	2	66,484,586 (GRCm38)	missense	probably benign	0.11
R1496:Scn9a	UTSW	2	66,526,888 (GRCm38)	missense	probably benign
R1511:Scn9a	UTSW	2	66,526,813 (GRCm38)	missense	probably benign	0.01
R1517:Scn9a	UTSW	2	66,505,027 (GRCm38)	splice site	probably benign
R1564:Scn9a	UTSW	2	66,484,304 (GRCm38)	missense	probably damaging	1.00
R1634:Scn9a	UTSW	2	66,488,017 (GRCm38)	missense	probably damaging	1.00
R1662:Scn9a	UTSW	2	66,483,459 (GRCm38)	missense	probably benign	0.00
R1695:Scn9a	UTSW	2	66,504,876 (GRCm38)	nonsense	probably null
R1709:Scn9a	UTSW	2	66,483,506 (GRCm38)	missense	probably damaging	1.00
R1741:Scn9a	UTSW	2	66,487,594 (GRCm38)	missense	probably damaging	0.99
R1755:Scn9a	UTSW	2	66,501,716 (GRCm38)	missense	probably benign	0.38
R1914:Scn9a	UTSW	2	66,566,250 (GRCm38)	missense	probably damaging	1.00
R1962:Scn9a	UTSW	2	66,484,311 (GRCm38)	missense	probably damaging	1.00
R1970:Scn9a	UTSW	2	66,515,380 (GRCm38)	missense	probably damaging	0.97
R2017:Scn9a	UTSW	2	66,515,321 (GRCm38)	missense	probably damaging	0.99
R2092:Scn9a	UTSW	2	66,533,376 (GRCm38)	missense	probably damaging	0.99
R2105:Scn9a	UTSW	2	66,568,183 (GRCm38)	missense	probably benign	0.25
R2114:Scn9a	UTSW	2	66,484,052 (GRCm38)	missense	probably damaging	1.00
R2115:Scn9a	UTSW	2	66,484,052 (GRCm38)	missense	probably damaging	1.00
R2128:Scn9a	UTSW	2	66,526,654 (GRCm38)	missense	probably damaging	1.00
R2157:Scn9a	UTSW	2	66,536,325 (GRCm38)	missense	probably damaging	1.00
R2162:Scn9a	UTSW	2	66,534,229 (GRCm38)	missense	probably damaging	0.98
R2350:Scn9a	UTSW	2	66,504,968 (GRCm38)	missense	probably damaging	1.00
R3694:Scn9a	UTSW	2	66,562,405 (GRCm38)	missense	probably benign
R3771:Scn9a	UTSW	2	66,483,648 (GRCm38)	missense	probably benign	0.26
R3772:Scn9a	UTSW	2	66,483,648 (GRCm38)	missense	probably benign	0.26
R3773:Scn9a	UTSW	2	66,483,648 (GRCm38)	missense	probably benign	0.26
R3922:Scn9a	UTSW	2	66,526,873 (GRCm38)	missense	possibly damaging	0.88
R3926:Scn9a	UTSW	2	66,526,873 (GRCm38)	missense	possibly damaging	0.88
R4258:Scn9a	UTSW	2	66,565,054 (GRCm38)	intron	probably benign
R4385:Scn9a	UTSW	2	66,484,556 (GRCm38)	missense	probably damaging	1.00
R4415:Scn9a	UTSW	2	66,526,693 (GRCm38)	missense	probably damaging	1.00
R4570:Scn9a	UTSW	2	66,483,558 (GRCm38)	missense	possibly damaging	0.85
R4682:Scn9a	UTSW	2	66,547,018 (GRCm38)	missense	probably benign
R4783:Scn9a	UTSW	2	66,540,623 (GRCm38)	missense	probably benign	0.01
R4822:Scn9a	UTSW	2	66,483,749 (GRCm38)	missense	possibly damaging	0.55
R4829:Scn9a	UTSW	2	66,551,713 (GRCm38)	missense	probably benign
R4908:Scn9a	UTSW	2	66,526,743 (GRCm38)	missense	probably benign	0.03
R4983:Scn9a	UTSW	2	66,566,270 (GRCm38)	missense	probably benign	0.02
R5047:Scn9a	UTSW	2	66,562,480 (GRCm38)	missense	probably damaging	1.00
R5100:Scn9a	UTSW	2	66,534,119 (GRCm38)	missense	probably damaging	1.00
R5140:Scn9a	UTSW	2	66,565,167 (GRCm38)	missense	possibly damaging	0.81
R5398:Scn9a	UTSW	2	66,488,043 (GRCm38)	missense	probably damaging	1.00
R5557:Scn9a	UTSW	2	66,547,103 (GRCm38)	missense	probably damaging	0.99
R5582:Scn9a	UTSW	2	66,565,029 (GRCm38)	intron	probably benign
R6108:Scn9a	UTSW	2	66,484,049 (GRCm38)	missense	probably damaging	1.00
R6115:Scn9a	UTSW	2	66,563,629 (GRCm38)	missense	possibly damaging	0.70
R6143:Scn9a	UTSW	2	66,487,524 (GRCm38)	missense	probably benign	0.00
R6261:Scn9a	UTSW	2	66,483,896 (GRCm38)	missense	probably damaging	1.00
R6335:Scn9a	UTSW	2	66,568,264 (GRCm38)	start codon destroyed	possibly damaging	0.91
R6429:Scn9a	UTSW	2	66,526,963 (GRCm38)	missense	possibly damaging	0.95
R6632:Scn9a	UTSW	2	66,483,502 (GRCm38)	missense	probably benign	0.23
R6681:Scn9a	UTSW	2	66,563,342 (GRCm38)	missense	possibly damaging	0.90
R6830:Scn9a	UTSW	2	66,568,029 (GRCm38)	missense	probably damaging	1.00
R7102:Scn9a	UTSW	2	66,549,015 (GRCm38)	missense	probably damaging	1.00
R7186:Scn9a	UTSW	2	66,534,223 (GRCm38)	missense	probably damaging	1.00
R7243:Scn9a	UTSW	2	66,540,530 (GRCm38)	missense	probably damaging	1.00
R7311:Scn9a	UTSW	2	66,484,404 (GRCm38)	missense	possibly damaging	0.54
R7328:Scn9a	UTSW	2	66,484,587 (GRCm38)	missense	probably benign
R7386:Scn9a	UTSW	2	66,540,550 (GRCm38)	missense	probably damaging	1.00
R7438:Scn9a	UTSW	2	66,547,187 (GRCm38)	missense	possibly damaging	0.81
R7483:Scn9a	UTSW	2	66,533,348 (GRCm38)	missense	probably damaging	0.99
R7485:Scn9a	UTSW	2	66,534,217 (GRCm38)	missense	probably damaging	1.00
R7526:Scn9a	UTSW	2	66,483,646 (GRCm38)	missense	probably benign
R7617:Scn9a	UTSW	2	66,540,549 (GRCm38)	missense	possibly damaging	0.55
R7642:Scn9a	UTSW	2	66,536,236 (GRCm38)	missense	probably benign	0.02
R7653:Scn9a	UTSW	2	66,527,080 (GRCm38)	missense	probably damaging	1.00
R7747:Scn9a	UTSW	2	66,484,298 (GRCm38)	missense	probably damaging	1.00
R7823:Scn9a	UTSW	2	66,483,791 (GRCm38)	missense	probably damaging	1.00
R7864:Scn9a	UTSW	2	66,484,560 (GRCm38)	missense	possibly damaging	0.73
R7890:Scn9a	UTSW	2	66,543,112 (GRCm38)	missense	probably benign	0.00
R7975:Scn9a	UTSW	2	66,484,253 (GRCm38)	missense	probably damaging	1.00
R8057:Scn9a	UTSW	2	66,515,430 (GRCm38)	missense	probably benign	0.06
R8145:Scn9a	UTSW	2	66,487,410 (GRCm38)	missense	probably damaging	1.00
R8163:Scn9a	UTSW	2	66,484,401 (GRCm38)	missense	probably damaging	1.00
R8165:Scn9a	UTSW	2	66,540,530 (GRCm38)	missense	probably damaging	1.00
R8342:Scn9a	UTSW	2	66,536,282 (GRCm38)	missense	probably benign
R8345:Scn9a	UTSW	2	66,494,622 (GRCm38)	missense	probably damaging	0.96
R8464:Scn9a	UTSW	2	66,566,281 (GRCm38)	missense	probably damaging	0.99
R8467:Scn9a	UTSW	2	66,501,671 (GRCm38)	missense	probably damaging	1.00
R8698:Scn9a	UTSW	2	66,536,284 (GRCm38)	missense	probably benign	0.00
R8810:Scn9a	UTSW	2	66,501,666 (GRCm38)	missense	probably damaging	1.00
R8822:Scn9a	UTSW	2	66,540,635 (GRCm38)	missense	probably damaging	0.99
R8829:Scn9a	UTSW	2	66,483,617 (GRCm38)	missense	probably benign
R9009:Scn9a	UTSW	2	66,508,583 (GRCm38)	missense	probably damaging	1.00
R9038:Scn9a	UTSW	2	66,494,803 (GRCm38)	missense	probably damaging	1.00
R9126:Scn9a	UTSW	2	66,484,400 (GRCm38)	missense	probably damaging	1.00
R9205:Scn9a	UTSW	2	66,533,313 (GRCm38)	missense	probably damaging	1.00
R9300:Scn9a	UTSW	2	66,504,892 (GRCm38)	missense	probably benign	0.39
R9373:Scn9a	UTSW	2	66,483,917 (GRCm38)	missense	probably benign	0.00
R9404:Scn9a	UTSW	2	66,526,696 (GRCm38)	missense	probably benign	0.02
R9443:Scn9a	UTSW	2	66,565,209 (GRCm38)	missense	probably damaging	1.00
R9590:Scn9a	UTSW	2	66,483,984 (GRCm38)	missense	probably benign	0.05
R9612:Scn9a	UTSW	2	66,533,364 (GRCm38)	missense	probably damaging	1.00
R9617:Scn9a	UTSW	2	66,562,465 (GRCm38)	missense	probably damaging	1.00
R9717:Scn9a	UTSW	2	66,526,658 (GRCm38)	missense	probably benign
X0003:Scn9a	UTSW	2	66,508,647 (GRCm38)	missense	probably benign	0.02
X0062:Scn9a	UTSW	2	66,568,077 (GRCm38)	missense	probably damaging	1.00
Z1176:Scn9a	UTSW	2	66,540,592 (GRCm38)	missense	probably benign	0.00
Z1177:Scn9a	UTSW	2	66,494,685 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GAAAGACTCATCTGCCCTTTTCTG -3'
(R):5'- AATGTTTCCACAGGCTTTTGAGG -3'

Sequencing Primer
(F):5'- AGTTTGCAAGTCCAATGGGCC -3'
(R):5'- TCCTGGAGTATGCTGACA -3'

Posted On

2020-08-07