Mutagenetix > Incidental Mutations

Incidental Mutation 'R0372:Snrnp40'

65615

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

038578-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0372 (G1)

Quality Score

211

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: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 63,973,482	Q99L	probably damaging	Het
Abca2	A	G	2: 25,437,353	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,736,891		probably null	Het
Acan	G	T	7: 79,100,601	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,891,175	R284S	probably benign	Het
Ap3d1	T	C	10: 80,723,567	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,202,921	F153V	probably damaging	Het
Atp2c2	C	A	8: 119,757,441	F930L	probably benign	Het
Avl9	T	C	6: 56,726,324		probably null	Het
Axin2	A	G	11: 108,923,333	S16G	probably damaging	Het
Axin2	T	A	11: 108,924,110		probably benign	Het
Bbs7	A	T	3: 36,602,832	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,641,500		probably benign	Het
Chd1	T	A	17: 17,387,290	C367S	probably benign	Het
Cnnm4	G	A	1: 36,498,010	V472M	probably damaging	Het
Cpb2	T	A	14: 75,242,377	I8N	probably benign	Het
Dusp11	A	G	6: 85,958,730		probably benign	Het
Elmo1	T	C	13: 20,572,459		probably null	Het
Gbf1	C	T	19: 46,285,704	P1726S	probably benign	Het
Hal	A	G	10: 93,507,553		probably benign	Het
Hlcs	T	C	16: 94,138,907	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,690,834	S132P	probably benign	Het
Ing5	T	C	1: 93,812,420	I70T	probably damaging	Het
Ints1	T	C	5: 139,772,438	N228S	probably damaging	Het
Itgb6	T	A	2: 60,627,841	I523F	probably benign	Het
Kat2b	T	C	17: 53,638,537	F328S	possibly damaging	Het
Kbtbd3	A	T	9: 4,316,950	I34F	possibly damaging	Het
Klhl11	A	T	11: 100,463,522	I491N	probably damaging	Het
Lmo7	A	T	14: 101,918,053		probably benign	Het
Lrp1	G	T	10: 127,592,136	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,730,798	D3556V	probably benign	Het
Lrp2	T	A	2: 69,535,043	H262L	probably benign	Het
Lrrc27	T	A	7: 139,226,187	I256K	probably benign	Het
Lrrc47	G	A	4: 154,019,632	R523K	probably benign	Het
Lrrc71	A	T	3: 87,745,777	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,581,212	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,388,855		probably benign	Het
Nlrp4a	T	C	7: 26,449,232		probably benign	Het
Nsd2	A	T	5: 33,891,551	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,825,291	M440T	possibly damaging	Het
Olfr183	T	C	16: 59,000,087	V134A	probably benign	Het
Oog4	A	T	4: 143,437,689	L424Q	probably damaging	Het
Orc5	A	T	5: 22,533,784	Y160N	possibly damaging	Het
Papola	T	C	12: 105,818,838	F410L	probably benign	Het
Pcdh10	A	G	3: 45,379,497	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,469,003	Y287C	probably damaging	Het
Pld1	T	A	3: 28,088,638		probably null	Het
Plekha8	G	A	6: 54,616,758		probably null	Het
Ppbp	C	T	5: 90,769,343	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 185,262,694	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,546,011	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,821,430	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Slc24a2	A	T	4: 87,227,292	V175E	probably damaging	Het
Sned1	T	C	1: 93,285,951		probably benign	Het
Spg11	GCC	G	2: 122,059,447		probably null	Het
Tecrl	C	T	5: 83,294,659	C189Y	probably damaging	Het
Tert	A	G	13: 73,648,991	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,139,790	Y126C	probably damaging	Het
Tll2	T	C	19: 41,183,313		probably null	Het
Ubqln4	C	T	3: 88,555,969	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,140,258	C17S	probably benign	Het
Vps41	A	T	13: 18,842,247	Q505L	probably benign	Het
Zfp386	T	C	12: 116,054,816	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,044,476	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,227,828	L34Q	probably damaging	Het
Zfp974	A	T	7: 27,920,695		probably null	Het

Other mutations in Snrnp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Snrnp40	APN	4	130360221	missense	probably damaging	0.99
IGL02306:Snrnp40	APN	4	130365100	missense	probably benign	0.21
skywarp	UTSW	4	130378043	splice site	probably null
R0027:Snrnp40	UTSW	4	130368273	missense	probably damaging	1.00
R0027:Snrnp40	UTSW	4	130368273	missense	probably damaging	1.00
R0077:Snrnp40	UTSW	4	130378043	splice site	probably null
R0134:Snrnp40	UTSW	4	130378043	splice site	probably null
R0211:Snrnp40	UTSW	4	130378043	splice site	probably null
R0349:Snrnp40	UTSW	4	130378043	splice site	probably null
R0371:Snrnp40	UTSW	4	130378043	splice site	probably null
R0376:Snrnp40	UTSW	4	130378043	splice site	probably null
R0377:Snrnp40	UTSW	4	130378043	splice site	probably null
R0400:Snrnp40	UTSW	4	130362650	missense	probably damaging	1.00
R0442:Snrnp40	UTSW	4	130378043	splice site	probably null
R0443:Snrnp40	UTSW	4	130378043	splice site	probably null
R0486:Snrnp40	UTSW	4	130378043	splice site	probably null
R0488:Snrnp40	UTSW	4	130378043	splice site	probably null
R0568:Snrnp40	UTSW	4	130378043	splice site	probably null
R0624:Snrnp40	UTSW	4	130362658	missense	probably damaging	0.98
R0632:Snrnp40	UTSW	4	130378043	splice site	probably null
R0650:Snrnp40	UTSW	4	130378043	splice site	probably null
R0733:Snrnp40	UTSW	4	130378043	splice site	probably null
R1161:Snrnp40	UTSW	4	130378043	splice site	probably null
R1182:Snrnp40	UTSW	4	130378043	splice site	probably null
R1234:Snrnp40	UTSW	4	130378043	splice site	probably null
R1236:Snrnp40	UTSW	4	130378043	splice site	probably null
R1305:Snrnp40	UTSW	4	130378043	splice site	probably null
R1308:Snrnp40	UTSW	4	130378043	splice site	probably null
R1333:Snrnp40	UTSW	4	130378043	splice site	probably null
R1413:Snrnp40	UTSW	4	130378043	splice site	probably null
R1569:Snrnp40	UTSW	4	130378043	splice site	probably null
R1616:Snrnp40	UTSW	4	130378043	splice site	probably null
R1656:Snrnp40	UTSW	4	130378043	splice site	probably null
R1675:Snrnp40	UTSW	4	130378043	splice site	probably null
R1759:Snrnp40	UTSW	4	130378043	splice site	probably null
R1856:Snrnp40	UTSW	4	130378043	splice site	probably null
R1901:Snrnp40	UTSW	4	130385975	missense	probably damaging	0.98
R1912:Snrnp40	UTSW	4	130378043	splice site	probably null
R1930:Snrnp40	UTSW	4	130378043	splice site	probably null
R1931:Snrnp40	UTSW	4	130378043	splice site	probably null
R2435:Snrnp40	UTSW	4	130384551	missense	probably damaging	1.00
R3722:Snrnp40	UTSW	4	130368275	missense	possibly damaging	0.76
R4782:Snrnp40	UTSW	4	130362756	missense	probably damaging	1.00
R4799:Snrnp40	UTSW	4	130362756	missense	probably damaging	1.00
R5075:Snrnp40	UTSW	4	130388582	missense	probably benign	0.07
R5104:Snrnp40	UTSW	4	130365165	missense	possibly damaging	0.78
R5369:Snrnp40	UTSW	4	130362646	missense	probably damaging	0.97
R5699:Snrnp40	UTSW	4	130365165	missense	possibly damaging	0.78
R7529:Snrnp40	UTSW	4	130384482	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130378074	missense	probably benign	0.00
R8412:Snrnp40	UTSW	4	130384523	missense	possibly damaging	0.49
R9319:Snrnp40	UTSW	4	130362752	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

2013-08-08