Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Snrnp70'

84374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snrnp70

Ensembl Gene

ENSMUSG00000063511

Gene Name

small nuclear ribonucleoprotein 70 (U1)

Synonyms

Srnp70, 2700022N21Rik, Rnulp70, Snrp70, U1-70, 3200002N22Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

45376453-45395742 bp(-) (GRCm38)

Type of Mutation

splice site (154 bp from exon)

DNA Base Change (assembly)

C to T at 45387236 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074575] [ENSMUST00000209858] [ENSMUST00000210514] [ENSMUST00000211378] [ENSMUST00000211211] [ENSMUST00000211121]

Predicted Effect

probably benign
Transcript: ENSMUST00000074575

SMART Domains

Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511

Domain	Start	End	E-Value	Type
Pfam:U1snRNP70_N	2	94	4e-31	PFAM
RRM	104	177	1.62e-23	SMART
low complexity region	186	203	N/A	INTRINSIC
coiled coil region	286	309	N/A	INTRINSIC
low complexity region	331	409	N/A	INTRINSIC
PDB:3PGW\|L	410	448	4e-14	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209237

Predicted Effect

probably benign
Transcript: ENSMUST00000209858

Predicted Effect

probably benign
Transcript: ENSMUST00000209993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210495

Predicted Effect

probably benign
Transcript: ENSMUST00000210514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211290

Predicted Effect

probably benign
Transcript: ENSMUST00000211378

Predicted Effect

probably benign
Transcript: ENSMUST00000211211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211178

Predicted Effect

probably null
Transcript: ENSMUST00000211121

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a subunit of the U1 snRNP (small nuclear ribonucleic particle), one of at least five snRNPs to comprise the spliceosome, which functions in processing of pre-mRNAs. The U1 snRNP has been shown to be important in defining the 5' splice site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921	R408H	probably benign	Het
Ang	C	A	14: 51,101,667	Y88*	probably null	Het
Ankrd42	T	C	7: 92,610,585	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883	E447K	possibly damaging	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	G	T	18: 5,767,906	A806S	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het

Other mutations in Snrnp70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Snrnp70	APN	7	45377354	critical splice donor site	probably null
IGL01092:Snrnp70	APN	7	45377377	missense	probably damaging	0.98
IGL03110:Snrnp70	APN	7	45376859	intron	probably benign
R0691:Snrnp70	UTSW	7	45387245	missense	possibly damaging	0.60
R1371:Snrnp70	UTSW	7	45380705	unclassified	probably benign
R1854:Snrnp70	UTSW	7	45377220	nonsense	probably null
R1880:Snrnp70	UTSW	7	45377362	splice site	probably null
R2050:Snrnp70	UTSW	7	45387300	nonsense	probably null
R4928:Snrnp70	UTSW	7	45377281	splice site	probably null
R5195:Snrnp70	UTSW	7	45394710	missense	probably damaging	1.00
R5314:Snrnp70	UTSW	7	45377052	nonsense	probably null
R5326:Snrnp70	UTSW	7	45377233	intron	probably benign
R5522:Snrnp70	UTSW	7	45377177	intron	probably benign
R6182:Snrnp70	UTSW	7	45377073	nonsense	probably null
R6739:Snrnp70	UTSW	7	45387419	missense	probably damaging	1.00
R7607:Snrnp70	UTSW	7	45392264	missense	possibly damaging	0.82
R7789:Snrnp70	UTSW	7	45376621	nonsense	probably null
R7840:Snrnp70	UTSW	7	45376790	missense	unknown

Posted On

2013-11-11