Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Snrnp70'

157316

Institutional Source

Beutler Lab

Gene Symbol

Snrnp70

Ensembl Gene

ENSMUSG00000063511

Gene Name

small nuclear ribonucleoprotein 70 (U1)

Synonyms

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

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45025877-45045166 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 45030129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147682 (fasta)

Gene Model

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

AlphaFold

Q62376

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

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: ENSMUST00000210661

Predicted Effect

probably benign
Transcript: ENSMUST00000211211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211366

Predicted Effect

probably benign
Transcript: ENSMUST00000211378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211178

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,379 (GRCm39)	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,789,628 (GRCm39)	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,369,394 (GRCm39)	T208I	probably benign	Het
Aldh16a1	G	T	7: 44,796,674 (GRCm39)	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Asgr1	T	G	11: 69,946,923 (GRCm39)	C56W	probably benign	Het
Atp11b	T	C	3: 35,860,918 (GRCm39)	I335T	probably damaging	Het
BC061237	A	G	14: 44,741,762 (GRCm39)		probably benign	Het
Bdh1	G	T	16: 31,275,720 (GRCm39)	K280N	probably benign	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,108,172 (GRCm39)	E285G	probably benign	Het
Ces1f	C	T	8: 94,006,277 (GRCm39)	G18R	probably damaging	Het
Cfap43	T	A	19: 47,824,045 (GRCm39)	I109L	possibly damaging	Het
Cma2	T	C	14: 56,210,283 (GRCm39)	L56S	probably damaging	Het
Edc4	A	G	8: 106,617,382 (GRCm39)		probably benign	Het
F3	T	C	3: 121,526,159 (GRCm39)	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,352,310 (GRCm39)	S972C	probably damaging	Het
Heatr1	T	G	13: 12,432,513 (GRCm39)	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,950,738 (GRCm39)		probably benign	Het
Ice1	T	C	13: 70,744,340 (GRCm39)	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,481,873 (GRCm39)	N194D	probably damaging	Het
Ip6k1	G	A	9: 107,923,022 (GRCm39)	V385M	probably damaging	Het
Lig1	G	A	7: 13,022,611 (GRCm39)	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,537,165 (GRCm39)	V41I	probably damaging	Het
Macroh2a2	A	T	10: 61,585,112 (GRCm39)	D177E	possibly damaging	Het
Mst1r	T	A	9: 107,794,424 (GRCm39)	V1201E	probably damaging	Het
Myof	T	C	19: 37,892,116 (GRCm39)		probably benign	Het
Nbas	G	T	12: 13,532,379 (GRCm39)		probably benign	Het
Ndst1	A	G	18: 60,840,719 (GRCm39)	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983 (GRCm38)	G343R	probably damaging	Het
Or2a7	A	T	6: 43,151,234 (GRCm39)	T105S	probably benign	Het
Or2y1	T	A	11: 49,385,650 (GRCm39)	C97S	probably damaging	Het
Or4d2b	A	T	11: 87,780,122 (GRCm39)	I200N	probably damaging	Het
Pde4d	T	C	13: 109,253,595 (GRCm39)	S141P	probably benign	Het
Pigm	A	T	1: 172,204,381 (GRCm39)	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,846,750 (GRCm39)	I88F	probably benign	Het
Prss16	T	A	13: 22,192,856 (GRCm39)		probably benign	Het
Psmc4	G	A	7: 27,742,222 (GRCm39)		probably benign	Het
Ptger3	T	A	3: 157,273,365 (GRCm39)	C237*	probably null	Het
Recql	G	A	6: 142,318,601 (GRCm39)	T214M	probably damaging	Het
Rfx7	T	A	9: 72,526,857 (GRCm39)	V1349D	probably damaging	Het
Ros1	A	G	10: 51,964,041 (GRCm39)	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,947,053 (GRCm39)	S83T	probably benign	Het
Sall4	A	G	2: 168,598,394 (GRCm39)	Y149H	probably benign	Het
Smad1	A	G	8: 80,076,207 (GRCm39)		probably benign	Het
Spef2	C	A	15: 9,725,194 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,505,660 (GRCm39)	T253A	probably benign	Het
Zbbx	T	C	3: 74,959,784 (GRCm39)	Y595C	possibly damaging	Het
Zfp382	T	C	7: 29,833,114 (GRCm39)	V255A	probably benign	Het

Other mutations in Snrnp70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Snrnp70	APN	7	45,026,778 (GRCm39)	critical splice donor site	probably null
IGL01092:Snrnp70	APN	7	45,026,801 (GRCm39)	missense	probably damaging	0.98
IGL01444:Snrnp70	APN	7	45,036,660 (GRCm39)	splice site	probably null
IGL03110:Snrnp70	APN	7	45,026,283 (GRCm39)	intron	probably benign
R0691:Snrnp70	UTSW	7	45,036,669 (GRCm39)	missense	possibly damaging	0.60
R1854:Snrnp70	UTSW	7	45,026,644 (GRCm39)	nonsense	probably null
R1880:Snrnp70	UTSW	7	45,026,786 (GRCm39)	splice site	probably null
R2050:Snrnp70	UTSW	7	45,036,724 (GRCm39)	nonsense	probably null
R4928:Snrnp70	UTSW	7	45,026,705 (GRCm39)	splice site	probably null
R5195:Snrnp70	UTSW	7	45,044,134 (GRCm39)	missense	probably damaging	1.00
R5314:Snrnp70	UTSW	7	45,026,476 (GRCm39)	nonsense	probably null
R5326:Snrnp70	UTSW	7	45,026,657 (GRCm39)	intron	probably benign
R5522:Snrnp70	UTSW	7	45,026,601 (GRCm39)	intron	probably benign
R6182:Snrnp70	UTSW	7	45,026,497 (GRCm39)	nonsense	probably null
R6739:Snrnp70	UTSW	7	45,036,843 (GRCm39)	missense	probably damaging	1.00
R7607:Snrnp70	UTSW	7	45,041,688 (GRCm39)	missense	possibly damaging	0.82
R7789:Snrnp70	UTSW	7	45,026,045 (GRCm39)	nonsense	probably null
R7840:Snrnp70	UTSW	7	45,026,214 (GRCm39)	missense	unknown
R9519:Snrnp70	UTSW	7	45,036,875 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TCACTCATGCAGGAAAGACCAGGG -3'
(R):5'- AGCAGAGGCCAGCATTCAGCTAAC -3'

Sequencing Primer
(F):5'- ACCAGTGTCCAAAGCCATG -3'
(R):5'- GGCCAGAGTAAATGTTTTACCCC -3'

Posted On

2014-02-18