Mutagenetix > Incidental Mutation

Incidental Mutation 'R7608:Scn11a'

628164

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

045678-MU

Accession Numbers

Essential gene?

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

Stock #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119753759-119825456 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 119815313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

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

AlphaFold

Q9R053

Predicted Effect

probably null
Transcript: ENSMUST00000070617

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115

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 null
Transcript: ENSMUST00000070617

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115

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 null
Transcript: ENSMUST00000070617

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115

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 null
Transcript: ENSMUST00000070617

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115

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 null
Transcript: ENSMUST00000215718

Predicted Effect

probably null
Transcript: ENSMUST00000215718

Predicted Effect

probably null
Transcript: ENSMUST00000215718

Predicted Effect

probably null
Transcript: ENSMUST00000215718

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,177,703 (GRCm38)	F311S	probably benign	Het
Adamts7	C	A	9: 90,173,773 (GRCm38)	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,420,522 (GRCm38)	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,253 (GRCm38)	T151M	probably damaging	Het
Atrnl1	T	A	19: 57,714,687 (GRCm38)	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,359,024 (GRCm38)	S902P	probably damaging	Het
Casp3	T	A	8: 46,634,333 (GRCm38)	I105K	probably benign	Het
Ccdc146	C	T	5: 21,301,452 (GRCm38)	V664I	probably benign	Het
Cfap61	G	A	2: 145,963,531 (GRCm38)	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,934,054 (GRCm38)		probably null	Het
Dnah11	G	T	12: 118,140,770 (GRCm38)		probably null	Het
Duox1	C	A	2: 122,326,135 (GRCm38)	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Fam214b	A	G	4: 43,036,533 (GRCm38)	L66P	probably damaging	Het
Fan1	A	T	7: 64,354,231 (GRCm38)		probably null	Het
Fgfrl1	A	T	5: 108,705,345 (GRCm38)	K278M	probably damaging	Het
Fign	T	C	2: 63,978,719 (GRCm38)	I736V	possibly damaging	Het
Galns	A	G	8: 122,591,445 (GRCm38)	F410S	probably benign	Het
Hspbp1	C	A	7: 4,660,822 (GRCm38)	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,280,980 (GRCm38)	S296R	probably damaging	Het
Ifi44	A	G	3: 151,732,408 (GRCm38)	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,600,747 (GRCm38)	M690L	probably benign	Het
Lrrc49	C	T	9: 60,602,722 (GRCm38)	G488S	probably null	Het
Mcc	T	C	18: 44,491,227 (GRCm38)	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571 (GRCm38)		probably null	Het
Mtcl1	T	C	17: 66,343,305 (GRCm38)	R1722G	probably damaging	Het
Olfr1252	A	G	2: 89,721,298 (GRCm38)	V271A	probably benign	Het
Olfr1475	G	A	19: 13,479,592 (GRCm38)	T202I	possibly damaging	Het
Olfr562-ps1	A	G	7: 102,781,925 (GRCm38)	I150V	probably benign	Het
Olfr924	T	A	9: 38,848,510 (GRCm38)	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,151,752 (GRCm38)	E651G	probably damaging	Het
Pop5	A	G	5: 115,237,872 (GRCm38)		probably benign	Het
Prox1	T	A	1: 190,153,445 (GRCm38)	M602L	probably benign	Het
Prpf39	G	A	12: 65,053,446 (GRCm38)	A298T	probably benign	Het
Scg2	T	C	1: 79,436,181 (GRCm38)	E275G	probably benign	Het
Slc16a4	A	T	3: 107,303,127 (GRCm38)	Y371F	probably damaging	Het
Slc4a1ap	T	A	5: 31,536,189 (GRCm38)	M489K	possibly damaging	Het
Spata13	A	G	14: 60,692,507 (GRCm38)	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,951,193 (GRCm38)	N31S	probably damaging	Het
Tmem159	A	G	7: 120,104,788 (GRCm38)	K19E	probably damaging	Het
Tnn	A	T	1: 160,088,414 (GRCm38)	Y1508*	probably null	Het
Trim23	T	C	13: 104,192,033 (GRCm38)	V354A	probably benign	Het
Tsc1	A	T	2: 28,658,736 (GRCm38)	T18S	probably benign	Het
Txlnb	A	G	10: 17,815,398 (GRCm38)	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,224,122 (GRCm38)	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,447,363 (GRCm38)	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,221,410 (GRCm38)	I99T	probably benign	Het
Zfp318	T	G	17: 46,400,009 (GRCm38)	V886G	probably damaging	Het
Zfp760	A	G	17: 21,722,816 (GRCm38)	N324S	probably benign	Het
Zfp819	T	C	7: 43,616,933 (GRCm38)	V280A	probably benign	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
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
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'- AATACTTTTGGGGCTCGAGG -3'
(R):5'- ACAAGTTCTGCGGAAGGGTC -3'

Sequencing Primer
(F):5'- ATATCTATCTGAGGACGCCCTTGAG -3'
(R):5'- AAGGGTCAGTAGCTCTCCCTAG -3'

Posted On

2020-01-28