Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Snrnp40'

177104

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

039608-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1569 (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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,797	K166*	probably null	Het
Abca2	T	A	2: 25,439,185	N1012K	probably benign	Het
Ahnak	T	C	19: 9,004,094	V914A	possibly damaging	Het
Akap1	T	A	11: 88,833,180	M833L	probably benign	Het
Atp2b1	T	A	10: 98,987,326	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,050,625	V750A	probably damaging	Het
Car6	T	C	4: 150,201,042	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,829,068	T917A	probably damaging	Het
Clmn	C	A	12: 104,781,081	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,786,094	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,396,480	N327K	probably damaging	Het
Eftud2	A	T	11: 102,854,771		probably benign	Het
Esyt1	G	T	10: 128,518,994	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,213,135	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,765,461	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,384,705	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,652,251	D151E	probably benign	Het
Gcc2	C	T	10: 58,270,171	L310F	probably benign	Het
Hsd11b1	C	G	1: 193,240,327	E141Q	probably damaging	Het
Htr1b	A	G	9: 81,632,287	V89A	probably benign	Het
Ibsp	A	T	5: 104,310,151	T185S	probably damaging	Het
Igfn1	T	C	1: 135,969,033	D1265G	probably benign	Het
Ints9	T	C	14: 64,980,122	Y33H	possibly damaging	Het
Kif1a	A	T	1: 93,058,810		probably benign	Het
Lama1	A	T	17: 67,780,618		probably null	Het
Lbp	A	T	2: 158,319,687	D223V	probably damaging	Het
Lck	C	A	4: 129,555,656	D283Y	probably damaging	Het
Lcmt2	A	G	2: 121,139,828	F258S	probably damaging	Het
Lsg1	G	T	16: 30,581,005		probably null	Het
Maip1	T	C	1: 57,413,395		probably benign	Het
Mark3	T	G	12: 111,633,746	I465S	probably benign	Het
Marveld2	C	T	13: 100,600,998	V128I	probably benign	Het
Mcm3ap	A	G	10: 76,483,188	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501	Q2479L	probably null	Het
Met	A	T	6: 17,531,504	K594*	probably null	Het
Pak2	G	T	16: 32,037,295	S241R	probably damaging	Het
Plxna4	T	C	6: 32,185,475	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,439,999	I51T	probably benign	Het
Ppp1r18	A	G	17: 35,868,703	E62G	probably damaging	Het
Prkag2	T	C	5: 24,947,477	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,702,390	I347K	probably benign	Het
Rdh1	A	T	10: 127,763,072	M141L	probably benign	Het
Rfx2	A	T	17: 56,804,326	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,231,735	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,126,644	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,384,862	P814S	probably damaging	Het
Shbg	T	A	11: 69,617,589		probably benign	Het
Slc15a2	T	C	16: 36,756,383	T430A	probably benign	Het
Slc17a3	A	T	13: 23,855,608	I250F	probably benign	Het
Spg11	A	G	2: 122,101,706	S552P	probably damaging	Het
Srpk2	A	G	5: 23,514,026	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,769,271	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,944,887		probably null	Het
Tmem208	T	A	8: 105,334,830	C163S	possibly damaging	Het
Tpte	T	C	8: 22,345,031	V401A	probably damaging	Het
Trhde	A	G	10: 114,446,188	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,889,445		probably null	Het
Ttn	T	A	2: 76,795,719	T14999S	possibly damaging	Het
Txndc2	A	T	17: 65,638,926	N85K	probably benign	Het
Yes1	A	G	5: 32,653,163	Y192C	probably damaging	Het
Zan	A	G	5: 137,429,130	V2415A	unknown	Het
Zfp410	T	A	12: 84,332,952	C311S	probably damaging	Het
Zfp51	A	T	17: 21,456,380	M38L	probably benign	Het
Zfp560	A	T	9: 20,348,715	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,172,900	R648*	probably null	Het
Zfp976	G	T	7: 42,613,382	H344N	probably damaging	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
R0372: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
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

2014-04-24