Mutagenetix > Incidental Mutation

Incidental Mutation 'R6892:Scn11a'

538113

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

044986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119806969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 304 (D304V)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070617
AA Change: D304V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D304V

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

possibly damaging
Transcript: ENSMUST00000215718
AA Change: D304V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

96% (54/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	G	17: 23,712,354 (GRCm38)	L193P	probably damaging	Het
4930442H23Rik	C	A	10: 81,183,144 (GRCm38)		probably benign	Het
4933421I07Rik	T	C	7: 42,446,407 (GRCm38)	Q139R	probably benign	Het
A930002H24Rik	C	T	17: 63,863,764 (GRCm38)	V10M	unknown	Het
Acvr2a	T	A	2: 48,897,075 (GRCm38)	L394Q	probably damaging	Het
Ano6	T	C	15: 95,967,624 (GRCm38)	Y830H	probably damaging	Het
Atp8b4	T	A	2: 126,343,002 (GRCm38)	I914F	possibly damaging	Het
Cab39	A	G	1: 85,848,377 (GRCm38)	D265G	probably damaging	Het
Capn5	A	T	7: 98,135,941 (GRCm38)	W109R	probably damaging	Het
Cdk18	G	T	1: 132,122,110 (GRCm38)	T44K	probably benign	Het
Cdt1	T	A	8: 122,570,212 (GRCm38)	N248K	probably damaging	Het
Cpa4	G	T	6: 30,583,629 (GRCm38)	R248L	probably benign	Het
Cpt1a	G	A	19: 3,371,660 (GRCm38)	V481M	probably benign	Het
Cyp3a11	G	A	5: 145,860,448 (GRCm38)	L374F	probably damaging	Het
Dcdc2a	A	G	13: 25,056,460 (GRCm38)	N64D	probably damaging	Het
Dmxl1	G	A	18: 49,920,902 (GRCm38)	R2525Q	probably damaging	Het
Dscaml1	G	A	9: 45,683,830 (GRCm38)	V744M	probably damaging	Het
Dync1h1	G	A	12: 110,638,901 (GRCm38)	E2391K	probably benign	Het
Ezh1	A	T	11: 101,199,361 (GRCm38)	Y522*	probably null	Het
Fzd3	G	C	14: 65,209,881 (GRCm38)	A533G	possibly damaging	Het
Gm14403	T	G	2: 177,509,247 (GRCm38)	C329G	probably damaging	Het
Gm17067	A	C	7: 42,710,675 (GRCm38)		probably null	Het
Gm38119	A	G	3: 92,738,222 (GRCm38)	C22R	unknown	Het
Gtf3c3	A	G	1: 54,415,941 (GRCm38)	S588P	probably benign	Het
Ift140	A	G	17: 25,020,546 (GRCm38)	E59G	possibly damaging	Het
Ints1	A	T	5: 139,767,828 (GRCm38)	M683K	probably damaging	Het
Iws1	A	G	18: 32,086,274 (GRCm38)	M470V	probably damaging	Het
Mptx1	A	G	1: 174,332,265 (GRCm38)	R46G	probably benign	Het
Nhsl1	C	T	10: 18,524,343 (GRCm38)	T439I	probably damaging	Het
Olfr517	A	G	7: 108,868,515 (GRCm38)	L213P	probably damaging	Het
Peg3	C	T	7: 6,708,899 (GRCm38)	S1108N	possibly damaging	Het
Pgm2	A	G	4: 99,929,708 (GRCm38)	E48G	probably benign	Het
Pkhd1	G	A	1: 20,523,515 (GRCm38)	T1458I	probably damaging	Het
Polr1a	A	T	6: 71,964,712 (GRCm38)	D1068V	possibly damaging	Het
Ptprq	T	C	10: 107,576,004 (GRCm38)	T1834A	probably benign	Het
Rapgef1	T	C	2: 29,699,840 (GRCm38)		probably null	Het
Rgl1	A	T	1: 152,539,940 (GRCm38)	D409E	probably benign	Het
Rgsl1	G	T	1: 153,821,499 (GRCm38)	Y558*	probably null	Het
Rock1	C	T	18: 10,122,612 (GRCm38)	R403H	probably benign	Het
Sdk1	A	T	5: 142,046,298 (GRCm38)	I1043F	probably benign	Het
Sgms2	A	G	3: 131,342,154 (GRCm38)	Y24H	probably benign	Het
Sppl2a	A	G	2: 126,913,575 (GRCm38)	I372T	probably damaging	Het
Sptbn1	A	G	11: 30,142,187 (GRCm38)	M526T	probably benign	Het
Stxbp5l	A	T	16: 37,188,629 (GRCm38)	S683T	possibly damaging	Het
Syk	A	T	13: 52,632,898 (GRCm38)	R332S	probably benign	Het
Syne2	T	A	12: 75,962,528 (GRCm38)	V2401E	probably damaging	Het
Tarm1	T	C	7: 3,497,490 (GRCm38)	Y87C	probably damaging	Het
Tbc1d22b	A	G	17: 29,595,890 (GRCm38)	K378E	possibly damaging	Het
Tcte1	A	G	17: 45,533,157 (GRCm38)	T20A	probably benign	Het
Tor1aip2	A	T	1: 156,065,181 (GRCm38)	Y411F	possibly damaging	Het
Trim43c	T	A	9: 88,844,924 (GRCm38)	M267K	probably benign	Het
Ubr2	T	G	17: 46,934,108 (GRCm38)	Y1664S	probably damaging	Het
Uhrf1bp1l	G	A	10: 89,805,123 (GRCm38)	V719I	probably benign	Het
Vmn1r41	C	A	6: 89,747,181 (GRCm38)	Q235K	possibly damaging	Het
Wdr17	T	C	8: 54,673,596 (GRCm38)	T401A	probably damaging	Het
Zfp454	A	G	11: 50,873,198 (GRCm38)	L469P	probably damaging	Het

Other mutations in Scn11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Scn11a	APN	9	119,770,506 (GRCm38)	missense	probably benign	0.00
IGL00272:Scn11a	APN	9	119,816,603 (GRCm38)	missense	probably damaging	0.98
IGL00332:Scn11a	APN	9	119,769,916 (GRCm38)	missense	probably damaging	1.00
IGL00533:Scn11a	APN	9	119,774,381 (GRCm38)	missense	probably damaging	1.00
IGL00972:Scn11a	APN	9	119,793,938 (GRCm38)	missense	probably benign	0.44
IGL01338:Scn11a	APN	9	119,784,161 (GRCm38)	splice site	probably benign
IGL01534:Scn11a	APN	9	119,780,822 (GRCm38)	missense	probably benign	0.27
IGL01838:Scn11a	APN	9	119,758,583 (GRCm38)	missense	probably damaging	1.00
IGL01991:Scn11a	APN	9	119,819,904 (GRCm38)	missense	probably damaging	0.97
IGL02057:Scn11a	APN	9	119,765,470 (GRCm38)	missense	probably damaging	1.00
IGL02290:Scn11a	APN	9	119,774,442 (GRCm38)	missense	probably damaging	0.97
IGL02454:Scn11a	APN	9	119,758,544 (GRCm38)	missense	probably benign	0.00
IGL02517:Scn11a	APN	9	119,792,398 (GRCm38)	missense	probably damaging	1.00
IGL02567:Scn11a	APN	9	119,804,489 (GRCm38)	missense	probably damaging	0.99
IGL02587:Scn11a	APN	9	119,805,684 (GRCm38)	missense	probably damaging	1.00
IGL03069:Scn11a	APN	9	119,789,963 (GRCm38)	missense	probably benign	0.16
IGL03171:Scn11a	APN	9	119,819,847 (GRCm38)	missense	probably benign	0.00
Kleinie	UTSW	9	119,803,503 (GRCm38)	missense	probably benign	0.16
H8441:Scn11a	UTSW	9	119,807,910 (GRCm38)	missense	probably damaging	1.00
PIT4449001:Scn11a	UTSW	9	119,769,948 (GRCm38)	missense	probably damaging	1.00
R0304:Scn11a	UTSW	9	119,819,862 (GRCm38)	missense	probably benign	0.00
R0519:Scn11a	UTSW	9	119,790,119 (GRCm38)	missense	probably damaging	1.00
R0658:Scn11a	UTSW	9	119,811,160 (GRCm38)	missense	probably benign	0.41
R0828:Scn11a	UTSW	9	119,755,007 (GRCm38)	missense	probably benign	0.00
R0893:Scn11a	UTSW	9	119,803,330 (GRCm38)	splice site	probably null
R0932:Scn11a	UTSW	9	119,807,810 (GRCm38)	missense	probably damaging	1.00
R1061:Scn11a	UTSW	9	119,795,663 (GRCm38)	missense	probably damaging	0.98
R1161:Scn11a	UTSW	9	119,755,057 (GRCm38)	nonsense	probably null
R1162:Scn11a	UTSW	9	119,805,644 (GRCm38)	splice site	probably benign
R1310:Scn11a	UTSW	9	119,755,057 (GRCm38)	nonsense	probably null
R1589:Scn11a	UTSW	9	119,769,807 (GRCm38)	missense	probably damaging	1.00
R1681:Scn11a	UTSW	9	119,804,412 (GRCm38)	missense	possibly damaging	0.46
R1781:Scn11a	UTSW	9	119,755,082 (GRCm38)	missense	probably damaging	1.00
R1812:Scn11a	UTSW	9	119,780,865 (GRCm38)	nonsense	probably null
R1901:Scn11a	UTSW	9	119,779,036 (GRCm38)	nonsense	probably null
R1978:Scn11a	UTSW	9	119,780,795 (GRCm38)	nonsense	probably null
R1985:Scn11a	UTSW	9	119,754,678 (GRCm38)	missense	probably benign	0.19
R2022:Scn11a	UTSW	9	119,811,208 (GRCm38)	missense	possibly damaging	0.88
R2072:Scn11a	UTSW	9	119,811,208 (GRCm38)	missense	possibly damaging	0.88
R2098:Scn11a	UTSW	9	119,792,494 (GRCm38)	missense	possibly damaging	0.67
R2163:Scn11a	UTSW	9	119,755,025 (GRCm38)	missense	probably damaging	1.00
R2250:Scn11a	UTSW	9	119,758,602 (GRCm38)	missense	probably benign	0.01
R2373:Scn11a	UTSW	9	119,813,186 (GRCm38)	missense	probably benign	0.43
R2508:Scn11a	UTSW	9	119,765,529 (GRCm38)	missense	probably damaging	1.00
R3757:Scn11a	UTSW	9	119,803,503 (GRCm38)	missense	probably benign	0.16
R3767:Scn11a	UTSW	9	119,784,049 (GRCm38)	missense	probably damaging	1.00
R3770:Scn11a	UTSW	9	119,784,049 (GRCm38)	missense	probably damaging	1.00
R4089:Scn11a	UTSW	9	119,795,653 (GRCm38)	splice site	probably null
R4092:Scn11a	UTSW	9	119,789,970 (GRCm38)	missense	probably benign	0.03
R4247:Scn11a	UTSW	9	119,807,886 (GRCm38)	missense	probably damaging	1.00
R4279:Scn11a	UTSW	9	119,754,362 (GRCm38)	missense	probably benign	0.25
R4299:Scn11a	UTSW	9	119,765,506 (GRCm38)	missense	probably damaging	0.97
R4403:Scn11a	UTSW	9	119,795,667 (GRCm38)	missense	probably damaging	1.00
R4468:Scn11a	UTSW	9	119,754,987 (GRCm38)	missense	probably damaging	1.00
R4542:Scn11a	UTSW	9	119,755,134 (GRCm38)	missense	probably damaging	1.00
R4644:Scn11a	UTSW	9	119,815,203 (GRCm38)	splice site	probably null
R4739:Scn11a	UTSW	9	119,754,561 (GRCm38)	missense	probably benign	0.39
R4809:Scn11a	UTSW	9	119,819,870 (GRCm38)	missense	probably benign	0.00
R4954:Scn11a	UTSW	9	119,758,659 (GRCm38)	missense	possibly damaging	0.84
R5012:Scn11a	UTSW	9	119,780,878 (GRCm38)	missense	probably benign	0.31
R5044:Scn11a	UTSW	9	119,819,831 (GRCm38)	missense	probably damaging	0.98
R5222:Scn11a	UTSW	9	119,815,202 (GRCm38)	splice site	probably null
R5224:Scn11a	UTSW	9	119,754,792 (GRCm38)	missense	probably damaging	1.00
R5400:Scn11a	UTSW	9	119,769,908 (GRCm38)	missense	probably damaging	0.97
R5555:Scn11a	UTSW	9	119,755,238 (GRCm38)	missense	probably damaging	1.00
R5711:Scn11a	UTSW	9	119,789,924 (GRCm38)	missense	probably damaging	1.00
R5950:Scn11a	UTSW	9	119,811,124 (GRCm38)	missense	probably damaging	1.00
R5984:Scn11a	UTSW	9	119,784,016 (GRCm38)	missense	probably benign
R6057:Scn11a	UTSW	9	119,765,448 (GRCm38)	missense	probably damaging	1.00
R6104:Scn11a	UTSW	9	119,795,678 (GRCm38)	missense	probably damaging	1.00
R6180:Scn11a	UTSW	9	119,754,867 (GRCm38)	missense	probably benign	0.00
R6908:Scn11a	UTSW	9	119,792,426 (GRCm38)	missense	probably damaging	1.00
R6949:Scn11a	UTSW	9	119,765,514 (GRCm38)	missense	probably benign	0.04
R7112:Scn11a	UTSW	9	119,754,809 (GRCm38)	missense	probably damaging	1.00
R7232:Scn11a	UTSW	9	119,759,916 (GRCm38)	missense	probably damaging	1.00
R7261:Scn11a	UTSW	9	119,819,833 (GRCm38)	missense	probably damaging	0.99
R7265:Scn11a	UTSW	9	119,815,265 (GRCm38)	missense	probably damaging	1.00
R7302:Scn11a	UTSW	9	119,806,951 (GRCm38)	missense	probably benign	0.03
R7391:Scn11a	UTSW	9	119,795,717 (GRCm38)	missense	probably damaging	1.00
R7441:Scn11a	UTSW	9	119,758,626 (GRCm38)	missense	probably benign	0.01
R7479:Scn11a	UTSW	9	119,759,875 (GRCm38)	missense	probably benign	0.38
R7608:Scn11a	UTSW	9	119,815,313 (GRCm38)	splice site	probably null
R7768:Scn11a	UTSW	9	119,815,272 (GRCm38)	missense	probably benign	0.13
R7785:Scn11a	UTSW	9	119,816,556 (GRCm38)	missense	probably benign	0.00
R7794:Scn11a	UTSW	9	119,765,514 (GRCm38)	missense	probably damaging	0.99
R7818:Scn11a	UTSW	9	119,784,111 (GRCm38)	missense	probably damaging	0.97
R7884:Scn11a	UTSW	9	119,804,551 (GRCm38)	missense	probably benign	0.01
R7988:Scn11a	UTSW	9	119,765,437 (GRCm38)	missense	probably damaging	0.97
R8049:Scn11a	UTSW	9	119,755,083 (GRCm38)	missense	probably damaging	1.00
R8127:Scn11a	UTSW	9	119,804,512 (GRCm38)	missense	probably damaging	1.00
R8274:Scn11a	UTSW	9	119,803,482 (GRCm38)	missense	probably benign
R8344:Scn11a	UTSW	9	119,781,970 (GRCm38)	missense	probably benign	0.00
R8346:Scn11a	UTSW	9	119,778,981 (GRCm38)	missense	probably damaging	1.00
R8511:Scn11a	UTSW	9	119,789,915 (GRCm38)	missense	probably damaging	0.99
R8819:Scn11a	UTSW	9	119,816,520 (GRCm38)	missense	probably benign	0.19
R8820:Scn11a	UTSW	9	119,816,520 (GRCm38)	missense	probably benign	0.19
R8837:Scn11a	UTSW	9	119,792,344 (GRCm38)	missense	probably damaging	1.00
R8913:Scn11a	UTSW	9	119,794,028 (GRCm38)	missense	probably damaging	1.00
R8915:Scn11a	UTSW	9	119,774,297 (GRCm38)	nonsense	probably null
R8975:Scn11a	UTSW	9	119,758,499 (GRCm38)	missense	probably damaging	1.00
R9156:Scn11a	UTSW	9	119,759,923 (GRCm38)	missense	possibly damaging	0.75
R9222:Scn11a	UTSW	9	119,781,947 (GRCm38)	missense	probably damaging	0.98
R9355:Scn11a	UTSW	9	119,755,094 (GRCm38)	missense	probably damaging	1.00
R9486:Scn11a	UTSW	9	119,795,708 (GRCm38)	missense	possibly damaging	0.86
R9712:Scn11a	UTSW	9	119,790,010 (GRCm38)	nonsense	probably null
R9766:Scn11a	UTSW	9	119,755,115 (GRCm38)	missense	probably damaging	1.00
Z1088:Scn11a	UTSW	9	119,755,242 (GRCm38)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,819,820 (GRCm38)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,754,998 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTTTAAAAGCAAAAGTTAGGAGCC -3'
(R):5'- TGAGGCTCCATTCCTTGATGG -3'

Sequencing Primer
(F):5'- TGCATGCACATGGTACTCAG -3'
(R):5'- GATGCTCATGTTGATCACTTCAGAG -3'

Posted On

2018-11-06