Mutagenetix > Incidental Mutation

Incidental Mutation 'R8517:Scnm1'

656192

Institutional Source

Beutler Lab

Gene Symbol

Scnm1

Ensembl Gene

ENSMUSG00000092607

Gene Name

sodium channel modifier 1

Synonyms

3110001I17Rik, Scnm1-ps

MMRRC Submission

067849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R8517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95037030-95041285 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 95040134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
Transcript: ENSMUST00000172572

SMART Domains

Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607

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 benign
Transcript: ENSMUST00000173462

SMART Domains

Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,206 (GRCm39)	D131E	probably damaging	Het
Abca17	C	A	17: 24,536,207 (GRCm39)	V487F	probably benign	Het
Anapc5	T	C	5: 122,959,093 (GRCm39)	S41G	probably benign	Het
Aoc1	C	T	6: 48,883,644 (GRCm39)	Q507*	probably null	Het
Ccdc171	G	A	4: 83,661,298 (GRCm39)	R1136H	probably damaging	Het
Clspn	A	G	4: 126,460,012 (GRCm39)	D413G	probably benign	Het
Copz2	A	G	11: 96,744,309 (GRCm39)	K74E	possibly damaging	Het
Cpsf4l	C	A	11: 113,599,651 (GRCm39)	A45S	probably benign	Het
Cr2	T	C	1: 194,838,207 (GRCm39)	I710V	probably benign	Het
Csmd2	G	A	4: 128,446,479 (GRCm39)	R3348Q		Het
Dchs2	A	G	3: 83,178,419 (GRCm39)	I1157M	probably damaging	Het
Dcst1	A	G	3: 89,272,455 (GRCm39)	F3L	probably benign	Het
Dennd5b	A	C	6: 148,930,619 (GRCm39)	C743G	probably damaging	Het
Dnah6	T	C	6: 73,155,440 (GRCm39)	E725G	probably benign	Het
Dnajc3	G	T	14: 119,190,589 (GRCm39)	G51*	probably null	Het
Dyrk2	T	C	10: 118,696,926 (GRCm39)	T111A	probably benign	Het
F5	T	A	1: 164,003,822 (GRCm39)	F206I	probably damaging	Het
Fam217b	T	A	2: 178,062,565 (GRCm39)	S176R	probably benign	Het
Farsb	A	T	1: 78,439,933 (GRCm39)	L313*	probably null	Het
Fbh1	A	G	2: 11,782,241 (GRCm39)		probably null	Het
Fgd4	G	A	16: 16,240,509 (GRCm39)	T740I	probably benign	Het
Gprc6a	G	T	10: 51,507,337 (GRCm39)	A64D	probably benign	Het
Gtf3c1	A	T	7: 125,253,723 (GRCm39)	V1365E	probably damaging	Het
Hdc	C	G	2: 126,439,890 (GRCm39)		probably null	Het
Igkv5-39	T	G	6: 69,877,553 (GRCm39)	I68L	possibly damaging	Het
Kcnh2	A	T	5: 24,531,636 (GRCm39)	V425D	probably damaging	Het
Kcnj12	T	C	11: 60,960,199 (GRCm39)	S166P	probably benign	Het
Krtap16-1	A	T	11: 99,876,524 (GRCm39)	C293*	probably null	Het
Map7	T	C	10: 20,137,581 (GRCm39)	V251A	probably damaging	Het
Myo7b	G	T	18: 32,100,244 (GRCm39)	L1597M	possibly damaging	Het
Nmu	T	C	5: 76,493,326 (GRCm39)	E82G	possibly damaging	Het
Nup85	T	C	11: 115,455,390 (GRCm39)		probably null	Het
Nwd2	A	G	5: 63,948,925 (GRCm39)	N166D	probably damaging	Het
Or52n2b	T	A	7: 104,565,681 (GRCm39)	H274L	possibly damaging	Het
Pbrm1	C	A	14: 30,789,739 (GRCm39)	D784E	probably benign	Het
Pcdhgb1	T	A	18: 37,815,117 (GRCm39)	M536K	possibly damaging	Het
Pml	T	A	9: 58,127,651 (GRCm39)	Q698L	possibly damaging	Het
Pon1	T	C	6: 5,171,769 (GRCm39)	Y294C	probably benign	Het
Rasal2	T	C	1: 156,973,849 (GRCm39)		probably null	Het
Rims1	T	A	1: 22,522,246 (GRCm39)	H484L	probably damaging	Het
Rpia	C	A	6: 70,743,630 (GRCm39)	V274L	possibly damaging	Het
Sart1	A	G	19: 5,433,225 (GRCm39)	L424P	probably damaging	Het
Slfn8	T	A	11: 82,894,968 (GRCm39)	M613L	possibly damaging	Het
Snph	A	G	2: 151,435,641 (GRCm39)	V429A	probably damaging	Het
Tarbp1	T	A	8: 127,170,934 (GRCm39)	D1022V	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ttc8	A	G	12: 98,909,594 (GRCm39)	N100D	probably benign	Het
Zbtb49	T	A	5: 38,357,997 (GRCm39)	H752L	probably benign	Het
Zfp1005	A	T	2: 150,110,043 (GRCm39)	E244D	probably benign	Het
Zfp263	T	C	16: 3,564,760 (GRCm39)		probably null	Het
Zfp46	A	G	4: 136,018,458 (GRCm39)	T431A	probably benign	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
R7182:Scnm1	UTSW	3	95,041,165 (GRCm39)	missense	possibly damaging	0.60
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
Z1176:Scnm1	UTSW	3	95,037,652 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCGTGCTCTACTAATGT -3'
(R):5'- GGTTTAGACAGGGCTATACTTCACA -3'

Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- TATACTTCACACAACAGGCTTGAGGG -3'

Posted On

2020-10-20