Mutagenetix > Incidental Mutation

Incidental Mutation 'R0077:Snrnp40'

19462

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

038364-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130360132-130390026 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 130378043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105994]

AlphaFold

Q6PE01

Predicted Effect

probably null
Transcript: ENSMUST00000105994

SMART Domains

Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
WD40	56	95	1.64e-9	SMART
WD40	99	138	1.83e-7	SMART
WD40	141	181	8.68e-9	SMART
WD40	184	222	3.81e-5	SMART
WD40	225	264	3.24e-8	SMART
WD40	271	314	5.1e-6	SMART
WD40	317	356	2.84e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180577

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,771,685 (GRCm38)		probably benign	Het
Adgrl4	A	G	3: 151,517,781 (GRCm38)	I624V	probably damaging	Het
AI661453	A	G	17: 47,469,362 (GRCm38)		probably benign	Het
Alg12	C	T	15: 88,815,978 (GRCm38)	E60K	probably damaging	Het
Angel2	A	T	1: 190,933,087 (GRCm38)	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,140,167 (GRCm38)	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,321,612 (GRCm38)	D61E	probably damaging	Het
Bpi	T	A	2: 158,261,334 (GRCm38)	M83K	probably damaging	Het
Capn7	A	G	14: 31,368,115 (GRCm38)	I642V	probably benign	Het
Ccdc134	T	C	15: 82,131,737 (GRCm38)		probably benign	Het
Ccr3	C	T	9: 124,029,024 (GRCm38)	T132I	probably damaging	Het
Cfap65	C	A	1: 74,931,918 (GRCm38)	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,047,384 (GRCm38)	I218K	unknown	Het
Ddx23	A	G	15: 98,656,600 (GRCm38)		probably null	Het
Dmkn	A	G	7: 30,765,294 (GRCm38)	S231G	probably benign	Het
Ep300	T	C	15: 81,641,313 (GRCm38)	I1446T	unknown	Het
Fmnl1	T	C	11: 103,189,969 (GRCm38)	F318S	probably damaging	Het
Grik5	A	T	7: 25,023,380 (GRCm38)	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,214,083 (GRCm38)	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,868,831 (GRCm38)		probably benign	Het
Hspb7	A	G	4: 141,424,047 (GRCm38)	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,322,702 (GRCm38)	N884I	probably benign	Het
Krba1	T	C	6: 48,405,225 (GRCm38)		probably benign	Het
Krt18	G	T	15: 102,030,974 (GRCm38)	R294L	probably benign	Het
Lctl	T	A	9: 64,122,107 (GRCm38)	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375 (GRCm38)	S535F	possibly damaging	Het
Lrba	A	C	3: 86,542,688 (GRCm38)	N2105H	probably damaging	Het
Lrrc10	A	G	10: 117,045,514 (GRCm38)	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,243,872 (GRCm38)	V104E	probably damaging	Het
Mgat3	C	T	15: 80,212,577 (GRCm38)	T535I	probably benign	Het
Nav3	T	C	10: 109,716,642 (GRCm38)	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,446,831 (GRCm38)	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,188,255 (GRCm38)	F441I	probably benign	Het
Obscn	A	G	11: 59,051,521 (GRCm38)		probably benign	Het
Olfr221	T	C	14: 52,035,985 (GRCm38)	N42S	possibly damaging	Het
Olfr444	T	C	6: 42,955,773 (GRCm38)	S92P	probably benign	Het
Olfr59	T	C	11: 74,288,675 (GRCm38)	F10L	probably benign	Het
Olfr688	T	C	7: 105,288,519 (GRCm38)	V142A	probably damaging	Het
Osr1	A	T	12: 9,579,691 (GRCm38)	Y188F	probably damaging	Het
Pak2	A	T	16: 32,033,843 (GRCm38)	N293K	possibly damaging	Het
Pappa	A	T	4: 65,307,812 (GRCm38)	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,753,126 (GRCm38)	Q679*	probably null	Het
Pik3r5	T	A	11: 68,486,622 (GRCm38)		probably null	Het
Plbd2	C	T	5: 120,486,039 (GRCm38)		probably null	Het
Ppp1r3a	G	T	6: 14,754,517 (GRCm38)	P244T	possibly damaging	Het
Pum1	C	A	4: 130,772,674 (GRCm38)	R960S	probably benign	Het
Ralgapb	T	C	2: 158,473,249 (GRCm38)	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,758,835 (GRCm38)	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,760,037 (GRCm38)	I34F	probably damaging	Het
Rgl3	T	A	9: 21,974,102 (GRCm38)	Q644L	probably benign	Het
Rpap2	T	C	5: 107,620,474 (GRCm38)	S393P	probably damaging	Het
Rsad2	T	C	12: 26,456,377 (GRCm38)	S15G	probably damaging	Het
Rspo1	G	A	4: 124,991,397 (GRCm38)	R22Q	probably benign	Het
S100a11	A	C	3: 93,524,202 (GRCm38)		probably null	Het
Sept4	T	C	11: 87,581,196 (GRCm38)	S11P	probably benign	Het
Serpina1c	T	C	12: 103,896,091 (GRCm38)	S322G	probably benign	Het
Setdb1	A	T	3: 95,341,451 (GRCm38)	C385S	probably damaging	Het
Shank2	A	T	7: 144,192,467 (GRCm38)	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,686,301 (GRCm38)		probably benign	Het
Tbcd	C	A	11: 121,594,274 (GRCm38)	Q761K	probably benign	Het
Tmed6	C	T	8: 107,065,566 (GRCm38)	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,702 (GRCm38)	T18A	probably benign	Het
Tsc1	T	A	2: 28,678,943 (GRCm38)		probably benign	Het
Ube2m	T	C	7: 13,035,730 (GRCm38)	N49D	probably damaging	Het
Ubqlnl	T	C	7: 104,150,047 (GRCm38)	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,715,405 (GRCm38)	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,875,867 (GRCm38)	R24S	probably benign	Het
Wfs1	C	A	5: 36,973,194 (GRCm38)	S236I	probably damaging	Het
Xpot	A	T	10: 121,605,639 (GRCm38)	N560K	probably benign	Het
Yipf3	A	G	17: 46,251,577 (GRCm38)	T303A	probably benign	Het
Zfp790	T	C	7: 29,824,875 (GRCm38)	W19R	probably damaging	Het
Zfp846	T	C	9: 20,594,007 (GRCm38)	C388R	probably benign	Het
Zpr1	T	A	9: 46,273,336 (GRCm38)	I47N	probably damaging	Het

Other mutations in Snrnp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Snrnp40	APN	4	130,360,221 (GRCm38)	missense	probably damaging	0.99
IGL02306:Snrnp40	APN	4	130,365,100 (GRCm38)	missense	probably benign	0.21
skywarp	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0027:Snrnp40	UTSW	4	130,368,273 (GRCm38)	missense	probably damaging	1.00
R0027:Snrnp40	UTSW	4	130,368,273 (GRCm38)	missense	probably damaging	1.00
R0134:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0211:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0349:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0371:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0372:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0376:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0377:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0400:Snrnp40	UTSW	4	130,362,650 (GRCm38)	missense	probably damaging	1.00
R0442:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0443:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0486:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0488:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0568:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0624:Snrnp40	UTSW	4	130,362,658 (GRCm38)	missense	probably damaging	0.98
R0632:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0650:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0733:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1161:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1182:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1234:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1236:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1305:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1308:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1333:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1413:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1569:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1616:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1656:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1675:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1759:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1856:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1901:Snrnp40	UTSW	4	130,385,975 (GRCm38)	missense	probably damaging	0.98
R1912:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1930:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1931:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R2435:Snrnp40	UTSW	4	130,384,551 (GRCm38)	missense	probably damaging	1.00
R3722:Snrnp40	UTSW	4	130,368,275 (GRCm38)	missense	possibly damaging	0.76
R4782:Snrnp40	UTSW	4	130,362,756 (GRCm38)	missense	probably damaging	1.00
R4799:Snrnp40	UTSW	4	130,362,756 (GRCm38)	missense	probably damaging	1.00
R5075:Snrnp40	UTSW	4	130,388,582 (GRCm38)	missense	probably benign	0.07
R5104:Snrnp40	UTSW	4	130,365,165 (GRCm38)	missense	possibly damaging	0.78
R5369:Snrnp40	UTSW	4	130,362,646 (GRCm38)	missense	probably damaging	0.97
R5699:Snrnp40	UTSW	4	130,365,165 (GRCm38)	missense	possibly damaging	0.78
R7529:Snrnp40	UTSW	4	130,384,482 (GRCm38)	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130,378,074 (GRCm38)	missense	probably benign	0.00
R8412:Snrnp40	UTSW	4	130,384,523 (GRCm38)	missense	possibly damaging	0.49
R9319:Snrnp40	UTSW	4	130,362,752 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ACATGGTCCTCTTTCTTGAACAACCAG -3'
(R):5'- GCATTAAGTGCCAACCTCCTGCAATC -3'

Sequencing Primer
(F):5'- GAAACCAGAAGAGGGAGTCAG -3'
(R):5'- TCCTGCAATCTCAACATTTAAAAAAG -3'

Posted On

2013-04-11