Mutagenetix > Incidental Mutation

Incidental Mutation 'R5314:Snrnp70'

405742

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

042897-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45025877-45045166 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 45026476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 298 (R298*)

Ref Sequence

ENSEMBL: ENSMUSP00000074160 (fasta)

Gene Model

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

AlphaFold

Q62376

Predicted Effect

probably null
Transcript: ENSMUST00000074575
AA Change: R298*

SMART Domains

Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: R298*

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: ENSMUST00000209993

Predicted Effect

probably benign
Transcript: ENSMUST00000210514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211178

Predicted Effect

probably benign
Transcript: ENSMUST00000211211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211366

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,473,172 (GRCm39)	F109S	unknown	Het
Ankhd1	A	T	18: 36,694,111 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,863,248 (GRCm39)		probably null	Het
Ccdc136	G	T	6: 29,417,497 (GRCm39)	V707F	probably benign	Het
Ccdc157	A	T	11: 4,100,078 (GRCm39)	C91*	probably null	Het
Ceacam3	T	A	7: 16,892,296 (GRCm39)	N346K	possibly damaging	Het
Cfap251	A	G	5: 123,460,626 (GRCm39)	D1196G	probably benign	Het
Chd4	A	G	6: 125,077,551 (GRCm39)	E74G	probably damaging	Het
Cntn1	A	G	15: 92,192,892 (GRCm39)	M665V	probably benign	Het
Crtc2	C	T	3: 90,168,348 (GRCm39)	Q364*	probably null	Het
Csf1r	T	A	18: 61,262,796 (GRCm39)	I857N	probably damaging	Het
Dner	C	T	1: 84,558,460 (GRCm39)	G168D	probably damaging	Het
Edar	T	C	10: 58,443,182 (GRCm39)	T315A	probably benign	Het
Egflam	A	G	15: 7,333,493 (GRCm39)	V153A	probably damaging	Het
Enoph1	T	C	5: 100,211,682 (GRCm39)	I193T	possibly damaging	Het
Epc1	A	G	18: 6,462,969 (GRCm39)	I9T	probably damaging	Het
Fbxw18	T	A	9: 109,522,246 (GRCm39)	I208F	possibly damaging	Het
Gm4841	A	G	18: 60,403,364 (GRCm39)	V243A	probably benign	Het
Herc2	T	C	7: 55,869,534 (GRCm39)	V4297A	probably damaging	Het
Itsn2	C	T	12: 4,677,960 (GRCm39)	P106S	probably benign	Het
Kcnu1	A	G	8: 26,352,486 (GRCm39)	T218A	probably damaging	Het
Kif1a	A	G	1: 92,946,220 (GRCm39)	S1677P	probably damaging	Het
Krt14	A	T	11: 100,095,526 (GRCm39)	M293K	probably damaging	Het
Meis3	T	A	7: 15,917,989 (GRCm39)	V307E	probably damaging	Het
Nadk2	A	C	15: 9,108,401 (GRCm39)	I417L	probably benign	Het
Nav2	AAGCAGCAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCAGCAGCA	7: 49,058,440 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,171,515 (GRCm39)	N1659K	probably benign	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Or10w1	T	C	19: 13,632,630 (GRCm39)	V274A	probably benign	Het
Or8g32	T	C	9: 39,305,785 (GRCm39)	S233P	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pde3b	A	T	7: 114,093,772 (GRCm39)	N339Y	probably damaging	Het
Pde8b	A	G	13: 95,223,361 (GRCm39)	F298L	possibly damaging	Het
Phtf1	G	A	3: 103,906,603 (GRCm39)	R606H	probably damaging	Het
Psd4	A	G	2: 24,290,528 (GRCm39)	D535G	possibly damaging	Het
Rad51ap1	A	G	6: 126,905,121 (GRCm39)	V130A	probably damaging	Het
Rbm11	T	C	16: 75,393,474 (GRCm39)	F57L	probably damaging	Het
Rprd2	A	G	3: 95,671,401 (GRCm39)	V1334A	possibly damaging	Het
Satb2	T	C	1: 56,870,686 (GRCm39)	E433G	probably damaging	Het
Sema6b	G	A	17: 56,435,413 (GRCm39)	R277*	probably null	Het
Sepsecs	A	T	5: 52,805,015 (GRCm39)	S349T	probably benign	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Slc7a2	T	C	8: 41,368,067 (GRCm39)		probably null	Het
Smc1b	T	A	15: 84,955,066 (GRCm39)	Y1062F	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Taar8c	A	T	10: 23,977,246 (GRCm39)	C189S	probably damaging	Het
Tas1r2	T	A	4: 139,382,672 (GRCm39)	D103E	probably damaging	Het
Timd2	T	C	11: 46,568,087 (GRCm39)	I236V	probably benign	Het
Tmem87a	A	G	2: 120,208,407 (GRCm39)	V316A	probably damaging	Het
Treml2	T	A	17: 48,607,601 (GRCm39)	L16Q	probably damaging	Het
Zcchc14	G	A	8: 122,335,337 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,013,178 (GRCm39)	Y567H	probably damaging	Het
Zfp551	G	A	7: 12,150,087 (GRCm39)	R441*	probably null	Het
Zfp930	A	G	8: 69,679,373 (GRCm39)	I59M	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
R1371:Snrnp70	UTSW	7	45,030,129 (GRCm39)	unclassified	probably benign
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
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'- ATGTCTCGACCATCACTACCTAG -3'
(R):5'- TGCCACACAGTGCTAACCTC -3'

Sequencing Primer
(F):5'- TCACTCCGGTGACTACGTCG -3'
(R):5'- TTCCACACAGAGACCGGG -3'

Posted On

2016-07-22