Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Snrnp70'

599736

Institutional Source

Beutler Lab

Gene Symbol

Snrnp70

Ensembl Gene

ENSMUSG00000063511

Gene Name

small nuclear ribonucleoprotein 70 (U1)

Synonyms

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

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45376453-45395742 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 45376621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 441 (Y441*)

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: Y441*

SMART Domains

Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: Y441*

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

probably benign
Transcript: ENSMUST00000211211

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311 (GRCm38)	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451 (GRCm38)	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774 (GRCm38)	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,799 (GRCm38)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,527,798 (GRCm38)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,334,709 (GRCm38)	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037 (GRCm38)	S113P		Het
Arid5b	C	T	10: 68,098,587 (GRCm38)	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023 (GRCm38)	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659 (GRCm38)	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667 (GRCm38)		probably null	Het
Casr	A	G	16: 36,495,291 (GRCm38)	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406 (GRCm38)	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467 (GRCm38)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171 (GRCm38)	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451 (GRCm38)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716 (GRCm38)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910 (GRCm38)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677 (GRCm38)	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532 (GRCm38)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876 (GRCm38)		probably null	Het
Dock10	A	G	1: 80,559,213 (GRCm38)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489 (GRCm38)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083 (GRCm38)		probably null	Het
Erc1	T	A	6: 119,773,709 (GRCm38)	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537 (GRCm38)	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313 (GRCm38)	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313 (GRCm38)	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108 (GRCm38)	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406 (GRCm38)	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002 (GRCm38)	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075 (GRCm38)	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399 (GRCm38)	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722 (GRCm38)	R120K	unknown	Het
Itga9	T	G	9: 118,658,496 (GRCm38)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008 (GRCm38)	D149G	unknown	Het
Lcat	C	T	8: 105,942,225 (GRCm38)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200 (GRCm38)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462 (GRCm38)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279 (GRCm38)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265 (GRCm38)	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827 (GRCm38)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587 (GRCm38)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930 (GRCm38)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220 (GRCm38)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436 (GRCm38)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456 (GRCm38)	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660 (GRCm38)	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697 (GRCm38)	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988 (GRCm38)	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065 (GRCm38)	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754 (GRCm38)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233 (GRCm38)		probably null	Het
Plxnc1	T	A	10: 94,794,477 (GRCm38)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379 (GRCm38)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539 (GRCm38)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335 (GRCm38)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219 (GRCm38)		probably null	Het
Sema3f	T	A	9: 107,705,432 (GRCm38)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131 (GRCm38)		probably null	Het
Sh3rf3	A	G	10: 59,086,815 (GRCm38)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725 (GRCm38)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301 (GRCm38)		probably benign	Het
Ssrp1	C	T	2: 85,041,181 (GRCm38)	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898 (GRCm38)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692 (GRCm38)	L562P		Het
Trim68	T	C	7: 102,684,469 (GRCm38)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908 (GRCm38)	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778 (GRCm38)		probably null	Het
Usp7	T	A	16: 8,698,811 (GRCm38)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965 (GRCm38)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817 (GRCm38)	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065 (GRCm38)	V2879M		Het
Vrtn	T	A	12: 84,650,306 (GRCm38)	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349 (GRCm38)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648 (GRCm38)	P703S	probably damaging	Het

Other mutations in Snrnp70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Snrnp70	APN	7	45,377,354 (GRCm38)	critical splice donor site	probably null
IGL01092:Snrnp70	APN	7	45,377,377 (GRCm38)	missense	probably damaging	0.98
IGL01444:Snrnp70	APN	7	45,387,236 (GRCm38)	splice site	probably null
IGL03110:Snrnp70	APN	7	45,376,859 (GRCm38)	intron	probably benign
R0691:Snrnp70	UTSW	7	45,387,245 (GRCm38)	missense	possibly damaging	0.60
R1371:Snrnp70	UTSW	7	45,380,705 (GRCm38)	unclassified	probably benign
R1854:Snrnp70	UTSW	7	45,377,220 (GRCm38)	nonsense	probably null
R1880:Snrnp70	UTSW	7	45,377,362 (GRCm38)	splice site	probably null
R2050:Snrnp70	UTSW	7	45,387,300 (GRCm38)	nonsense	probably null
R4928:Snrnp70	UTSW	7	45,377,281 (GRCm38)	splice site	probably null
R5195:Snrnp70	UTSW	7	45,394,710 (GRCm38)	missense	probably damaging	1.00
R5314:Snrnp70	UTSW	7	45,377,052 (GRCm38)	nonsense	probably null
R5326:Snrnp70	UTSW	7	45,377,233 (GRCm38)	intron	probably benign
R5522:Snrnp70	UTSW	7	45,377,177 (GRCm38)	intron	probably benign
R6182:Snrnp70	UTSW	7	45,377,073 (GRCm38)	nonsense	probably null
R6739:Snrnp70	UTSW	7	45,387,419 (GRCm38)	missense	probably damaging	1.00
R7607:Snrnp70	UTSW	7	45,392,264 (GRCm38)	missense	possibly damaging	0.82
R7840:Snrnp70	UTSW	7	45,376,790 (GRCm38)	missense	unknown
R9519:Snrnp70	UTSW	7	45,387,451 (GRCm38)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TGCAGTAAGACATCACATGCCC -3'
(R):5'- TGAAGCTGGTGATGGAGCTC -3'

Sequencing Primer
(F):5'- GTAAGACATCACATGCCCACTATC -3'
(R):5'- TCCTGATGATGGGCCTCCTG -3'

Posted On

2019-11-26