Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Scnm1'

559031

Institutional Source

Beutler Lab

Gene Symbol

Scnm1

Ensembl Gene

ENSMUSG00000092607

Gene Name

sodium channel modifier 1

Synonyms

3110001I17Rik, Scnm1-ps

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95037030-95041285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95041165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 14 (N14K)

Ref Sequence

ENSEMBL: ENSMUSP00000134337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000066386] [ENSMUST00000107227] [ENSMUST00000172572] [ENSMUST00000173462]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005769

SMART Domains

Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	4	143	2.7e-62	PFAM
PDB:1IO0\|A	160	343	6e-77	PDB
SCOP:d1a4ya_	184	289	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066386

SMART Domains

Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769

Domain	Start	End	E-Value	Type
low complexity region	10	19	N/A	INTRINSIC
LysM	41	85	2.58e-7	SMART
low complexity region	100	108	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107227

SMART Domains

Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	1	144	4.4e-72	PFAM
PDB:1IO0\|A	160	343	6e-77	PDB
SCOP:d1a4ya_	184	289	4e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172572
AA Change: N14K

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607
AA Change: N14K

Domain	Start	End	E-Value	Type
Pfam:zf-SCNM1	44	70	7.6e-19	PFAM
low complexity region	133	148	N/A	INTRINSIC
low complexity region	172	179	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173462
AA Change: N14K

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

SMART Domains

Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607
AA Change: N14K

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	42	68	2e-7	BLAST

Meta Mutation Damage Score

0.1629

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: Mutations in the voltage-gated sodium channel gene Scn8a lead to neurological problems in mice. For one particular mutation, Scn8amedJ, mice live to adulthood but have tremors and muscle weakness, among other problems, in all strains except those derived from C57BL6 mice. In these strains, the product of the Scnm1 gene (229 aa) partially overcomes the effects of the Scn8amedJ mutation. However, in C57BL6-derived mice, a one nt change in the penultimate exon creates a premature stop codon, truncating the Scnm1 protein at 186 aa. This truncated protein lacks the ability to overcome the effects of the Scn8amedJ mutation, and these mice suffer paralysis and juvenile death. [provided by RefSeq, Jul 2009]
PHENOTYPE: The Scnm1 locus influences the severity of the Scn8a^med-J phenotype. Mice carrying the recesive susceptibility allele of the modifier are paralyzed and do not survive beyond 1 month. Mice carryimg the resistant allele display progressive dystonia with ataxia and live more than 1.5 years. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(6) Spontaneous(1) Chemically induced(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Garin4	C	T	1: 190,895,548 (GRCm39)	R365H	probably damaging	Het
Gk5	G	T	9: 96,001,579 (GRCm39)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Manba	A	T	3: 135,273,274 (GRCm39)	N736I	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Nudc	G	T	4: 133,261,776 (GRCm39)	D169E	possibly damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Pigk	G	A	3: 152,428,188 (GRCm39)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,543,426 (GRCm39)	V163A	possibly damaging	Het

Other mutations in Scnm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02964:Scnm1	APN	3	95,040,348 (GRCm39)	missense	probably benign	0.07
R1917:Scnm1	UTSW	3	95,037,584 (GRCm39)	missense	possibly damaging	0.59
R5538:Scnm1	UTSW	3	95,037,066 (GRCm39)	utr 3 prime	probably benign
R5888:Scnm1	UTSW	3	95,037,596 (GRCm39)	missense	probably benign	0.06
R5955:Scnm1	UTSW	3	95,037,596 (GRCm39)	missense	probably benign	0.06
R5956:Scnm1	UTSW	3	95,037,596 (GRCm39)	missense	probably benign	0.06
R6082:Scnm1	UTSW	3	95,037,596 (GRCm39)	missense	probably benign	0.06
R6086:Scnm1	UTSW	3	95,037,596 (GRCm39)	missense	probably benign	0.06
R7206:Scnm1	UTSW	3	95,041,205 (GRCm39)	start codon destroyed	probably null	1.00
R7605:Scnm1	UTSW	3	95,040,186 (GRCm39)	missense	probably benign	0.03
R8517:Scnm1	UTSW	3	95,040,134 (GRCm39)	critical splice donor site	probably null
Z1176:Scnm1	UTSW	3	95,037,652 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCTCCGTTTCTGCAGGG -3'
(R):5'- TCATCCCCGGAAGTACAGATTC -3'

Sequencing Primer
(F):5'- GACGGATGGAAATGAAATAGTATGG -3'
(R):5'- CCGGAAGTACAGATTCAACAAG -3'

Posted On

2019-06-26