Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Scn11a'

394263

Institutional Source

Beutler Lab

Gene Symbol

Scn11a

Ensembl Gene

ENSMUSG00000034115

Gene Name

sodium channel, voltage-gated, type XI, alpha

Synonyms

NaN, NSS2, NaT, SNS2

MMRRC Submission

042634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119582829-119654522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119648897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 55 (D55E)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070617] [ENSMUST00000215718]

AlphaFold

Q9R053

Predicted Effect

probably damaging
Transcript: ENSMUST00000070617
AA Change: D55E

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

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D55E

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
Pfam:Ion_trans	128	409	1.1e-72	PFAM
low complexity region	475	487	N/A	INTRINSIC
Pfam:Ion_trans	574	810	4e-57	PFAM
Pfam:Na_trans_assoc	814	1030	4.1e-29	PFAM
Pfam:Ion_trans	1034	1300	5.7e-66	PFAM
Pfam:Ion_trans	1346	1595	3e-58	PFAM
low complexity region	1683	1694	N/A	INTRINSIC
low complexity region	1733	1744	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215718
AA Change: D55E

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

Meta Mutation Damage Score

0.3373

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,323 (GRCm39)	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,304,088 (GRCm39)	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,588,960 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,637,050 (GRCm39)	C3464R	probably benign	Het
Apbb1	A	T	7: 105,214,889 (GRCm39)		probably benign	Het
Cad	A	G	5: 31,212,365 (GRCm39)	T23A	probably benign	Het
Cdca7	A	G	2: 72,313,759 (GRCm39)	R183G	probably benign	Het
Cdpf1	T	C	15: 85,693,513 (GRCm39)	T5A	probably benign	Het
Cep85	T	C	4: 133,883,490 (GRCm39)	D133G	probably damaging	Het
Chrna9	T	C	5: 66,128,359 (GRCm39)	L189P	probably damaging	Het
Clca3a1	A	C	3: 144,713,689 (GRCm39)		probably null	Het
Cntn1	G	T	15: 92,140,876 (GRCm39)	V201F	probably damaging	Het
Col4a3	A	G	1: 82,644,267 (GRCm39)	E352G	unknown	Het
Ddhd2	T	C	8: 26,242,164 (GRCm39)	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,014,605 (GRCm39)	F3609V	probably benign	Het
Epha3	T	C	16: 63,422,650 (GRCm39)	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,334,560 (GRCm39)	N878S	probably benign	Het
Fbn1	T	G	2: 125,171,022 (GRCm39)	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,431,969 (GRCm39)	V234A	probably damaging	Het
Garin5b	T	C	7: 4,761,660 (GRCm39)	N351D	probably benign	Het
Glt1d1	A	T	5: 127,721,478 (GRCm39)	N55I	probably benign	Het
Gm17641	C	A	3: 68,776,807 (GRCm39)		probably benign	Het
Gm7665	A	G	18: 16,407,788 (GRCm39)		noncoding transcript	Het
Hgf	A	C	5: 16,819,892 (GRCm39)	N541T	probably benign	Het
Hipk2	G	A	6: 38,795,814 (GRCm39)	P152S	probably benign	Het
Jarid2	C	T	13: 45,060,041 (GRCm39)	L720F	probably damaging	Het
Kifc5b	A	G	17: 27,143,761 (GRCm39)	E511G	probably damaging	Het
Ldlr	G	A	9: 21,646,538 (GRCm39)	A235T	probably benign	Het
Lmln	A	G	16: 32,894,550 (GRCm39)	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,403,364 (GRCm39)	C2070R	probably damaging	Het
Mbl1	A	G	14: 40,880,681 (GRCm39)	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,299,934 (GRCm39)	S355T	probably benign	Het
Muc19	C	T	15: 91,772,332 (GRCm39)		noncoding transcript	Het
Mycbp2	A	C	14: 103,376,671 (GRCm39)		probably null	Het
Naa20	T	C	2: 145,757,762 (GRCm39)	S164P	probably damaging	Het
Nme4	A	T	17: 26,312,807 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,386,587 (GRCm39)	R619*	probably null	Het
Nudt19	G	A	7: 35,255,171 (GRCm39)	T20I	possibly damaging	Het
Or4c119	T	A	2: 88,987,283 (GRCm39)	K79*	probably null	Het
Or5b97	A	G	19: 12,878,365 (GRCm39)	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,187,054 (GRCm39)	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,247,150 (GRCm39)	T6A	probably benign	Het
Rif1	T	A	2: 51,999,940 (GRCm39)	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,127,972 (GRCm39)	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,702,846 (GRCm39)	N242I	probably damaging	Het
Sbno2	G	A	10: 79,898,022 (GRCm39)	L719F	probably benign	Het
Setd1b	T	A	5: 123,289,929 (GRCm39)	I632N	unknown	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Srpk2	A	T	5: 23,729,390 (GRCm39)	D416E	possibly damaging	Het
Sspo	A	T	6: 48,443,889 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,752,370 (GRCm39)	I804N	probably benign	Het
Tdp2	G	A	13: 25,015,809 (GRCm39)	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,284,795 (GRCm39)	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,258,326 (GRCm39)	P439S	probably benign	Het
Tnxb	A	T	17: 34,936,457 (GRCm39)	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,173,933 (GRCm39)	T142A	probably benign	Het
Ttn	T	C	2: 76,710,785 (GRCm39)		probably benign	Het
Tubgcp4	T	C	2: 121,004,061 (GRCm39)	L34P	probably damaging	Het
Tubgcp6	G	T	15: 88,983,748 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,078,962 (GRCm39)	V1690E	probably benign	Het
Vps4b	T	C	1: 106,724,148 (GRCm39)		probably null	Het
Wtap	A	G	17: 13,186,525 (GRCm39)	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,774,172 (GRCm39)	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,254,293 (GRCm39)	T67M	probably damaging	Het
Zfp865	T	C	7: 5,037,668 (GRCm39)		probably benign	Het

Other mutations in Scn11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Scn11a	APN	9	119,599,572 (GRCm39)	missense	probably benign	0.00
IGL00272:Scn11a	APN	9	119,645,669 (GRCm39)	missense	probably damaging	0.98
IGL00332:Scn11a	APN	9	119,598,982 (GRCm39)	missense	probably damaging	1.00
IGL00533:Scn11a	APN	9	119,603,447 (GRCm39)	missense	probably damaging	1.00
IGL00972:Scn11a	APN	9	119,623,004 (GRCm39)	missense	probably benign	0.44
IGL01338:Scn11a	APN	9	119,613,227 (GRCm39)	splice site	probably benign
IGL01534:Scn11a	APN	9	119,609,888 (GRCm39)	missense	probably benign	0.27
IGL01838:Scn11a	APN	9	119,587,649 (GRCm39)	missense	probably damaging	1.00
IGL01991:Scn11a	APN	9	119,648,970 (GRCm39)	missense	probably damaging	0.97
IGL02057:Scn11a	APN	9	119,594,536 (GRCm39)	missense	probably damaging	1.00
IGL02290:Scn11a	APN	9	119,603,508 (GRCm39)	missense	probably damaging	0.97
IGL02454:Scn11a	APN	9	119,587,610 (GRCm39)	missense	probably benign	0.00
IGL02517:Scn11a	APN	9	119,621,464 (GRCm39)	missense	probably damaging	1.00
IGL02567:Scn11a	APN	9	119,633,555 (GRCm39)	missense	probably damaging	0.99
IGL02587:Scn11a	APN	9	119,634,750 (GRCm39)	missense	probably damaging	1.00
IGL03069:Scn11a	APN	9	119,619,029 (GRCm39)	missense	probably benign	0.16
IGL03171:Scn11a	APN	9	119,648,913 (GRCm39)	missense	probably benign	0.00
Kleinie	UTSW	9	119,632,569 (GRCm39)	missense	probably benign	0.16
H8441:Scn11a	UTSW	9	119,636,976 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Scn11a	UTSW	9	119,599,014 (GRCm39)	missense	probably damaging	1.00
R0304:Scn11a	UTSW	9	119,648,928 (GRCm39)	missense	probably benign	0.00
R0519:Scn11a	UTSW	9	119,619,185 (GRCm39)	missense	probably damaging	1.00
R0658:Scn11a	UTSW	9	119,640,226 (GRCm39)	missense	probably benign	0.41
R0828:Scn11a	UTSW	9	119,584,073 (GRCm39)	missense	probably benign	0.00
R0893:Scn11a	UTSW	9	119,632,396 (GRCm39)	splice site	probably null
R0932:Scn11a	UTSW	9	119,636,876 (GRCm39)	missense	probably damaging	1.00
R1061:Scn11a	UTSW	9	119,624,729 (GRCm39)	missense	probably damaging	0.98
R1161:Scn11a	UTSW	9	119,584,123 (GRCm39)	nonsense	probably null
R1162:Scn11a	UTSW	9	119,634,710 (GRCm39)	splice site	probably benign
R1310:Scn11a	UTSW	9	119,584,123 (GRCm39)	nonsense	probably null
R1589:Scn11a	UTSW	9	119,598,873 (GRCm39)	missense	probably damaging	1.00
R1681:Scn11a	UTSW	9	119,633,478 (GRCm39)	missense	possibly damaging	0.46
R1781:Scn11a	UTSW	9	119,584,148 (GRCm39)	missense	probably damaging	1.00
R1812:Scn11a	UTSW	9	119,609,931 (GRCm39)	nonsense	probably null
R1901:Scn11a	UTSW	9	119,608,102 (GRCm39)	nonsense	probably null
R1978:Scn11a	UTSW	9	119,609,861 (GRCm39)	nonsense	probably null
R1985:Scn11a	UTSW	9	119,583,744 (GRCm39)	missense	probably benign	0.19
R2022:Scn11a	UTSW	9	119,640,274 (GRCm39)	missense	possibly damaging	0.88
R2072:Scn11a	UTSW	9	119,640,274 (GRCm39)	missense	possibly damaging	0.88
R2098:Scn11a	UTSW	9	119,621,560 (GRCm39)	missense	possibly damaging	0.67
R2163:Scn11a	UTSW	9	119,584,091 (GRCm39)	missense	probably damaging	1.00
R2250:Scn11a	UTSW	9	119,587,668 (GRCm39)	missense	probably benign	0.01
R2373:Scn11a	UTSW	9	119,642,252 (GRCm39)	missense	probably benign	0.43
R2508:Scn11a	UTSW	9	119,594,595 (GRCm39)	missense	probably damaging	1.00
R3757:Scn11a	UTSW	9	119,632,569 (GRCm39)	missense	probably benign	0.16
R3767:Scn11a	UTSW	9	119,613,115 (GRCm39)	missense	probably damaging	1.00
R3770:Scn11a	UTSW	9	119,613,115 (GRCm39)	missense	probably damaging	1.00
R4089:Scn11a	UTSW	9	119,624,719 (GRCm39)	splice site	probably null
R4092:Scn11a	UTSW	9	119,619,036 (GRCm39)	missense	probably benign	0.03
R4247:Scn11a	UTSW	9	119,636,952 (GRCm39)	missense	probably damaging	1.00
R4279:Scn11a	UTSW	9	119,583,428 (GRCm39)	missense	probably benign	0.25
R4299:Scn11a	UTSW	9	119,594,572 (GRCm39)	missense	probably damaging	0.97
R4403:Scn11a	UTSW	9	119,624,733 (GRCm39)	missense	probably damaging	1.00
R4468:Scn11a	UTSW	9	119,584,053 (GRCm39)	missense	probably damaging	1.00
R4542:Scn11a	UTSW	9	119,584,200 (GRCm39)	missense	probably damaging	1.00
R4644:Scn11a	UTSW	9	119,644,269 (GRCm39)	splice site	probably null
R4739:Scn11a	UTSW	9	119,583,627 (GRCm39)	missense	probably benign	0.39
R4809:Scn11a	UTSW	9	119,648,936 (GRCm39)	missense	probably benign	0.00
R4954:Scn11a	UTSW	9	119,587,725 (GRCm39)	missense	possibly damaging	0.84
R5012:Scn11a	UTSW	9	119,609,944 (GRCm39)	missense	probably benign	0.31
R5222:Scn11a	UTSW	9	119,644,268 (GRCm39)	splice site	probably null
R5224:Scn11a	UTSW	9	119,583,858 (GRCm39)	missense	probably damaging	1.00
R5400:Scn11a	UTSW	9	119,598,974 (GRCm39)	missense	probably damaging	0.97
R5555:Scn11a	UTSW	9	119,584,304 (GRCm39)	missense	probably damaging	1.00
R5711:Scn11a	UTSW	9	119,618,990 (GRCm39)	missense	probably damaging	1.00
R5950:Scn11a	UTSW	9	119,640,190 (GRCm39)	missense	probably damaging	1.00
R5984:Scn11a	UTSW	9	119,613,082 (GRCm39)	missense	probably benign
R6057:Scn11a	UTSW	9	119,594,514 (GRCm39)	missense	probably damaging	1.00
R6104:Scn11a	UTSW	9	119,624,744 (GRCm39)	missense	probably damaging	1.00
R6180:Scn11a	UTSW	9	119,583,933 (GRCm39)	missense	probably benign	0.00
R6892:Scn11a	UTSW	9	119,636,035 (GRCm39)	missense	possibly damaging	0.53
R6908:Scn11a	UTSW	9	119,621,492 (GRCm39)	missense	probably damaging	1.00
R6949:Scn11a	UTSW	9	119,594,580 (GRCm39)	missense	probably benign	0.04
R7112:Scn11a	UTSW	9	119,583,875 (GRCm39)	missense	probably damaging	1.00
R7232:Scn11a	UTSW	9	119,588,982 (GRCm39)	missense	probably damaging	1.00
R7261:Scn11a	UTSW	9	119,648,899 (GRCm39)	missense	probably damaging	0.99
R7265:Scn11a	UTSW	9	119,644,331 (GRCm39)	missense	probably damaging	1.00
R7302:Scn11a	UTSW	9	119,636,017 (GRCm39)	missense	probably benign	0.03
R7391:Scn11a	UTSW	9	119,624,783 (GRCm39)	missense	probably damaging	1.00
R7441:Scn11a	UTSW	9	119,587,692 (GRCm39)	missense	probably benign	0.01
R7479:Scn11a	UTSW	9	119,588,941 (GRCm39)	missense	probably benign	0.38
R7608:Scn11a	UTSW	9	119,644,379 (GRCm39)	splice site	probably null
R7768:Scn11a	UTSW	9	119,644,338 (GRCm39)	missense	probably benign	0.13
R7785:Scn11a	UTSW	9	119,645,622 (GRCm39)	missense	probably benign	0.00
R7794:Scn11a	UTSW	9	119,594,580 (GRCm39)	missense	probably damaging	0.99
R7818:Scn11a	UTSW	9	119,613,177 (GRCm39)	missense	probably damaging	0.97
R7884:Scn11a	UTSW	9	119,633,617 (GRCm39)	missense	probably benign	0.01
R7988:Scn11a	UTSW	9	119,594,503 (GRCm39)	missense	probably damaging	0.97
R8049:Scn11a	UTSW	9	119,584,149 (GRCm39)	missense	probably damaging	1.00
R8127:Scn11a	UTSW	9	119,633,578 (GRCm39)	missense	probably damaging	1.00
R8274:Scn11a	UTSW	9	119,632,548 (GRCm39)	missense	probably benign
R8344:Scn11a	UTSW	9	119,611,036 (GRCm39)	missense	probably benign	0.00
R8346:Scn11a	UTSW	9	119,608,047 (GRCm39)	missense	probably damaging	1.00
R8511:Scn11a	UTSW	9	119,618,981 (GRCm39)	missense	probably damaging	0.99
R8819:Scn11a	UTSW	9	119,645,586 (GRCm39)	missense	probably benign	0.19
R8820:Scn11a	UTSW	9	119,645,586 (GRCm39)	missense	probably benign	0.19
R8837:Scn11a	UTSW	9	119,621,410 (GRCm39)	missense	probably damaging	1.00
R8913:Scn11a	UTSW	9	119,623,094 (GRCm39)	missense	probably damaging	1.00
R8915:Scn11a	UTSW	9	119,603,363 (GRCm39)	nonsense	probably null
R8975:Scn11a	UTSW	9	119,587,565 (GRCm39)	missense	probably damaging	1.00
R9156:Scn11a	UTSW	9	119,588,989 (GRCm39)	missense	possibly damaging	0.75
R9222:Scn11a	UTSW	9	119,611,013 (GRCm39)	missense	probably damaging	0.98
R9355:Scn11a	UTSW	9	119,584,160 (GRCm39)	missense	probably damaging	1.00
R9486:Scn11a	UTSW	9	119,624,774 (GRCm39)	missense	possibly damaging	0.86
R9712:Scn11a	UTSW	9	119,619,076 (GRCm39)	nonsense	probably null
R9766:Scn11a	UTSW	9	119,584,181 (GRCm39)	missense	probably damaging	1.00
Z1088:Scn11a	UTSW	9	119,584,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,648,886 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,584,064 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTGACCCCAAGACTGGATTCAG -3'
(R):5'- GAGCTGTGTTTCTGCCACAC -3'

Sequencing Primer
(F):5'- TTCAGAGAACCAGTAGTGCAC -3'
(R):5'- CACACAGTGTCTGAGCCAAGG -3'

Posted On

2016-06-15