Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02587:Scn11a'

299581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scn11a

Ensembl Gene

ENSMUSG00000034115

Gene Name

sodium channel, voltage-gated, type XI, alpha

Synonyms

NaN, NSS2, NaT, SNS2

Accession Numbers

Essential gene?

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

Stock #

IGL02587

Quality Score

Status

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119805684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 357 (D357G)

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: D357G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: D357G

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: D357G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	A	T	15: 20,665,797 (GRCm38)	V286E	possibly damaging	Het
Bpifa6	T	C	2: 153,989,210 (GRCm38)	L232P	probably damaging	Het
Calr4	A	G	4: 109,238,937 (GRCm38)	N104S	possibly damaging	Het
Cdc42bpa	A	G	1: 180,093,945 (GRCm38)	E550G	possibly damaging	Het
D3Ertd751e	T	A	3: 41,753,852 (GRCm38)	N141K	probably benign	Het
Emilin2	A	G	17: 71,280,856 (GRCm38)		probably benign	Het
Eml6	T	C	11: 29,784,236 (GRCm38)	E1168G	possibly damaging	Het
Fbxo48	T	C	11: 16,953,659 (GRCm38)	I95T	probably benign	Het
Fpr3	A	T	17: 17,970,691 (GRCm38)	T75S	probably benign	Het
Gm13178	G	A	4: 144,703,399 (GRCm38)	T340I	possibly damaging	Het
Gm4788	G	A	1: 139,701,930 (GRCm38)	T712I	probably damaging	Het
Gm5145	A	G	17: 20,571,190 (GRCm38)	K277E	probably damaging	Het
Gnao1	A	G	8: 93,950,439 (GRCm38)		probably benign	Het
Krt8	G	A	15: 101,998,932 (GRCm38)	R239C	probably benign	Het
Lrrc17	A	T	5: 21,561,080 (GRCm38)	N187Y	probably damaging	Het
Neil1	C	T	9: 57,144,979 (GRCm38)	R195H	probably damaging	Het
Nr2f1	C	A	13: 78,195,156 (GRCm38)		probably benign	Het
Pi4ka	C	A	16: 17,317,353 (GRCm38)	G946W	probably damaging	Het
Plcg2	A	T	8: 117,558,113 (GRCm38)	N159I	possibly damaging	Het
Rad54l	A	G	4: 116,105,797 (GRCm38)	Y335H	probably damaging	Het
Rgsl1	C	T	1: 153,799,938 (GRCm38)	R159H	probably damaging	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Timeless	A	G	10: 128,239,916 (GRCm38)	M6V	probably damaging	Het
Vps16	T	C	2: 130,439,716 (GRCm38)		probably null	Het
Zfp955b	C	A	17: 33,300,650 (GRCm38)	Q31K	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
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
R6892:Scn11a	UTSW	9	119,806,969 (GRCm38)	missense	possibly damaging	0.53
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

Posted On

2015-04-16