Mutagenetix > Incidental Mutation

Incidental Mutation 'R7840:Snrnp70'

606211

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

045894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45025877-45045166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45026214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 385 (D385V)

Ref Sequence

ENSEMBL: ENSMUSP00000074160 (fasta)

Gene Model

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

AlphaFold

Q62376

Predicted Effect

unknown
Transcript: ENSMUST00000074575
AA Change: D385V

SMART Domains

Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: D385V

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,074,689 (GRCm39)	N577S	probably benign	Het
Ang4	A	G	14: 52,001,529 (GRCm39)	S140P	probably damaging	Het
Ankdd1b	T	C	13: 96,556,306 (GRCm39)		probably null	Het
Anln	G	T	9: 22,274,019 (GRCm39)	A606D	probably benign	Het
Ano5	T	G	7: 51,237,480 (GRCm39)	V768G	possibly damaging	Het
Ccdc180	A	T	4: 45,900,461 (GRCm39)	Y275F	possibly damaging	Het
Chpf	T	C	1: 75,453,271 (GRCm39)	Y334C	probably damaging	Het
Chrdl2	T	C	7: 99,682,863 (GRCm39)	L381S	probably damaging	Het
Cibar2	T	C	8: 120,893,372 (GRCm39)	D273G	probably benign	Het
Cox20	A	T	1: 178,150,126 (GRCm39)	Y100F	probably benign	Het
Dbn1	T	C	13: 55,623,322 (GRCm39)	D433G	possibly damaging	Het
Dclre1a	A	T	19: 56,519,684 (GRCm39)	I983N	probably damaging	Het
Dok6	A	T	18: 89,578,182 (GRCm39)	H78Q	probably benign	Het
Efcab3	G	A	11: 104,624,539 (GRCm39)	D878N	probably benign	Het
Fpr1	A	T	17: 18,097,634 (GRCm39)	F118L	probably benign	Het
Fscn3	A	G	6: 28,430,175 (GRCm39)	Y115C	probably damaging	Het
Gabra4	A	C	5: 71,798,256 (GRCm39)		probably null	Het
Gm45861	T	C	8: 28,072,751 (GRCm39)	V1290A	unknown	Het
Hivep1	T	C	13: 42,308,828 (GRCm39)	V356A	probably benign	Het
Ikbip	T	C	10: 90,937,617 (GRCm39)	Y97H	possibly damaging	Het
Il10	A	G	1: 130,947,805 (GRCm39)	T53A	probably benign	Het
Inpp5f	T	C	7: 128,296,526 (GRCm39)	V959A	probably benign	Het
Insr	T	C	8: 3,308,415 (GRCm39)	E207G	probably benign	Het
Kndc1	T	A	7: 139,503,731 (GRCm39)	S1012T	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Ksr2	T	C	5: 117,693,329 (GRCm39)	V259A	probably benign	Het
Lox	A	T	18: 52,658,194 (GRCm39)	Y326*	probably null	Het
Lpin2	C	A	17: 71,537,269 (GRCm39)	T272N	probably benign	Het
Lrp2	C	T	2: 69,295,128 (GRCm39)	E3397K	probably damaging	Het
Megf11	G	A	9: 64,602,709 (GRCm39)	C850Y	possibly damaging	Het
Morc1	T	C	16: 48,319,147 (GRCm39)	F284L	probably benign	Het
Moxd2	T	A	6: 40,862,378 (GRCm39)	D147V	possibly damaging	Het
Mrpl21	T	C	19: 3,337,752 (GRCm39)	L153P	probably damaging	Het
Naip2	T	C	13: 100,280,917 (GRCm39)	T1432A	probably benign	Het
Naip6	T	A	13: 100,451,979 (GRCm39)	D211V	probably damaging	Het
Ncoa5	T	C	2: 164,854,816 (GRCm39)	H102R	possibly damaging	Het
Ndel1	A	T	11: 68,720,806 (GRCm39)	C293*	probably null	Het
Ninl	A	T	2: 150,808,016 (GRCm39)	M82K	probably benign	Het
Nrcam	G	A	12: 44,587,858 (GRCm39)		probably null	Het
Nup210l	A	T	3: 90,030,036 (GRCm39)	I250L	probably benign	Het
Obscn	T	C	11: 58,968,776 (GRCm39)	E2532G	possibly damaging	Het
Or1e1	C	A	11: 73,244,585 (GRCm39)	A2E	probably benign	Het
Or5v1	G	T	17: 37,809,868 (GRCm39)	G109C	probably damaging	Het
Or8j3c	A	G	2: 86,253,583 (GRCm39)	F146L	probably benign	Het
Osgin1	G	A	8: 120,171,773 (GRCm39)	S189N	possibly damaging	Het
Otud7b	A	G	3: 96,062,690 (GRCm39)	E643G	probably damaging	Het
Phldb2	T	A	16: 45,571,727 (GRCm39)	T1222S	probably damaging	Het
Pwp1	C	T	10: 85,723,914 (GRCm39)	R472W	probably damaging	Het
Rad21	T	C	15: 51,836,538 (GRCm39)	Y211C	probably damaging	Het
Rexo1	A	G	10: 80,386,572 (GRCm39)	V162A	probably benign	Het
Rtl1	C	T	12: 109,560,589 (GRCm39)	V417I	probably benign	Het
Setbp1	G	A	18: 78,826,639 (GRCm39)	P1325S	probably benign	Het
Shld1	A	G	2: 132,592,510 (GRCm39)	T186A	probably damaging	Het
Shld2	A	G	14: 33,959,523 (GRCm39)	Y820H	probably damaging	Het
Skint7	G	T	4: 111,839,423 (GRCm39)	C239F	probably benign	Het
Slc25a1	A	G	16: 17,744,138 (GRCm39)	L221P	probably benign	Het
Sp7	A	C	15: 102,267,533 (GRCm39)	V109G	probably benign	Het
Syne1	A	T	10: 5,082,078 (GRCm39)	Y849N	probably damaging	Het
Tas2r108	T	C	6: 40,470,790 (GRCm39)	F89L	possibly damaging	Het
Tcf3	C	T	10: 80,246,301 (GRCm39)	A581T	possibly damaging	Het
Tcta	A	G	9: 108,182,986 (GRCm39)	L53P	probably damaging	Het
Traf3ip2	C	G	10: 39,502,451 (GRCm39)	Q200E	probably damaging	Het
Trgc1	A	T	13: 19,400,691 (GRCm39)	Y140F		Het
Tyk2	A	T	9: 21,036,263 (GRCm39)	C75S	probably damaging	Het
Ugt3a1	G	A	15: 9,311,903 (GRCm39)	G382R	probably damaging	Het
Upp2	G	T	2: 58,664,127 (GRCm39)		probably null	Het
Vmn1r212	A	T	13: 23,067,323 (GRCm39)	F337I	unknown	Het
Vmn1r58	T	C	7: 5,414,242 (GRCm39)		probably benign	Het
Vps13d	A	T	4: 144,830,246 (GRCm39)	V2856D		Het
Wdr37	A	C	13: 8,886,911 (GRCm39)	L292R	probably damaging	Het
Yipf3	T	C	17: 46,561,790 (GRCm39)	I199T	probably benign	Het
Zdhhc23	A	G	16: 43,791,907 (GRCm39)	S289P	possibly damaging	Het
Zfp229	A	T	17: 21,965,131 (GRCm39)	K454*	probably null	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
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
R9519:Snrnp70	UTSW	7	45,036,875 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- CAGACAGCAAGATTAGGAGCATGTC -3'
(R):5'- ATGGCTGAACCCTCTGAAGC -3'

Sequencing Primer
(F):5'- ACAGGCCTCTTCATTCGGG -3'
(R):5'- AACCCTCTGAAGCTGGTGATG -3'

Posted On

2019-12-20