Mutagenetix > Incidental Mutation

Incidental Mutation 'R0650:Snrnp40'

62196

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

Wdr57, 0610009C03Rik

MMRRC Submission

038835-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0650 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

130253925-130283819 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 130271836 bp (GRCm39)

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: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 68,989,391 (GRCm39)	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Actmap	A	T	7: 26,902,072 (GRCm39)	H233L	probably damaging	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,548,627 (GRCm39)	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,695,380 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,163 (GRCm39)	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,709,421 (GRCm39)	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,211,433 (GRCm39)	D407G	probably benign	Het
Ccdc121	T	C	5: 31,643,312 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,556,526 (GRCm39)	V633A	probably benign	Het
Cfap46	T	C	7: 139,185,571 (GRCm39)	Y2482C	unknown	Het
Chd8	T	C	14: 52,439,761 (GRCm39)	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,460,443 (GRCm39)	N18D	probably damaging	Het
Fis1	T	A	5: 136,991,048 (GRCm39)	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424 (GRCm39)		probably null	Het
Gm2381	C	T	7: 42,469,504 (GRCm39)	G207R	probably damaging	Het
Gpr89	T	A	3: 96,804,640 (GRCm39)		probably benign	Het
Gtf2i	A	G	5: 134,290,691 (GRCm39)		probably benign	Het
Herc2	T	G	7: 55,762,958 (GRCm39)	S896A	probably damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kcna4	T	A	2: 107,125,927 (GRCm39)	Y220*	probably null	Het
Krt18	A	G	15: 101,937,920 (GRCm39)	D139G	possibly damaging	Het
Krt87	T	C	15: 101,384,921 (GRCm39)	N392D	probably damaging	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,019,622 (GRCm39)	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lrrk1	G	A	7: 65,942,084 (GRCm39)	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,132,666 (GRCm39)	I51V	probably damaging	Het
Myt1	A	T	2: 181,424,408 (GRCm39)	R25*	probably null	Het
Npdc1	C	T	2: 25,298,021 (GRCm39)	T199I	probably benign	Het
Nup98	T	A	7: 101,801,660 (GRCm39)	Y755F	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,966,996 (GRCm39)	C100S	probably damaging	Het
Or5p76	G	T	7: 108,122,289 (GRCm39)	N289K	probably damaging	Het
Or8g22	T	A	9: 38,957,996 (GRCm39)	M240L	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pde10a	A	T	17: 9,161,797 (GRCm39)	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,212,780 (GRCm39)	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Pik3c2a	A	G	7: 115,945,482 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,595,283 (GRCm39)		probably benign	Het
Prr13	A	C	15: 102,370,650 (GRCm39)	*138C	probably null	Het
Prrc2b	T	C	2: 32,119,267 (GRCm39)		probably benign	Het
Psph	T	C	5: 129,868,633 (GRCm39)		probably benign	Het
Ripor1	A	G	8: 106,344,746 (GRCm39)		probably benign	Het
Scg3	A	G	9: 75,576,617 (GRCm39)	S253P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Skor2	T	C	18: 76,964,255 (GRCm39)	F940L	probably benign	Het
Slbp	T	C	5: 33,802,833 (GRCm39)		probably benign	Het
Susd5	A	T	9: 113,911,603 (GRCm39)	H171L	possibly damaging	Het
Sybu	T	C	15: 44,536,664 (GRCm39)	E354G	probably benign	Het
Synpo	T	C	18: 60,735,412 (GRCm39)	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,939,050 (GRCm39)	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,029,285 (GRCm39)	I111T	probably benign	Het
Tnc	T	C	4: 63,926,971 (GRCm39)	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 70,013,625 (GRCm39)	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 84,892,974 (GRCm39)	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,668,959 (GRCm39)	V22A	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,031,051 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,627 (GRCm39)	Q191L	probably benign	Het
Urod	T	C	4: 116,848,473 (GRCm39)	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,889,574 (GRCm39)	Q723*	probably null	Het

Other mutations in Snrnp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Snrnp40	APN	4	130,254,014 (GRCm39)	missense	probably damaging	0.99
IGL02306:Snrnp40	APN	4	130,258,893 (GRCm39)	missense	probably benign	0.21
skywarp	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0027:Snrnp40	UTSW	4	130,262,066 (GRCm39)	missense	probably damaging	1.00
R0027:Snrnp40	UTSW	4	130,262,066 (GRCm39)	missense	probably damaging	1.00
R0077:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0134:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0211:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0349:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0371:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0372:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0376:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0377:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0400:Snrnp40	UTSW	4	130,256,443 (GRCm39)	missense	probably damaging	1.00
R0442:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0443:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0486:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0488:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0568:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0624:Snrnp40	UTSW	4	130,256,451 (GRCm39)	missense	probably damaging	0.98
R0632:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0733:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1161:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1182:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1234:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1236:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1305:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1308:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1333:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1413:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1569:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1616:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1656:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1675:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1759:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1856:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1901:Snrnp40	UTSW	4	130,279,768 (GRCm39)	missense	probably damaging	0.98
R1912:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1930:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1931:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R2435:Snrnp40	UTSW	4	130,278,344 (GRCm39)	missense	probably damaging	1.00
R3722:Snrnp40	UTSW	4	130,262,068 (GRCm39)	missense	possibly damaging	0.76
R4782:Snrnp40	UTSW	4	130,256,549 (GRCm39)	missense	probably damaging	1.00
R4799:Snrnp40	UTSW	4	130,256,549 (GRCm39)	missense	probably damaging	1.00
R5075:Snrnp40	UTSW	4	130,282,375 (GRCm39)	missense	probably benign	0.07
R5104:Snrnp40	UTSW	4	130,258,958 (GRCm39)	missense	possibly damaging	0.78
R5369:Snrnp40	UTSW	4	130,256,439 (GRCm39)	missense	probably damaging	0.97
R5699:Snrnp40	UTSW	4	130,258,958 (GRCm39)	missense	possibly damaging	0.78
R7529:Snrnp40	UTSW	4	130,278,275 (GRCm39)	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130,271,867 (GRCm39)	missense	probably benign	0.00
R8412:Snrnp40	UTSW	4	130,278,316 (GRCm39)	missense	possibly damaging	0.49
R9319:Snrnp40	UTSW	4	130,256,545 (GRCm39)	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

2013-07-30