Mutagenetix > Incidental Mutations

Incidental Mutation 'R1656:Snrnp40'

189086

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

039692-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1656 (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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	T	14: 32,377,944	I42N	possibly damaging	Het
Adarb2	T	A	13: 8,203,251	S11T	unknown	Het
Adgrg1	C	T	8: 95,011,810	Q644*	probably null	Het
Akr1c18	T	G	13: 4,145,253	I69L	probably benign	Het
Anxa9	C	T	3: 95,300,573	V219I	probably benign	Het
Aqp9	T	C	9: 71,138,103	T101A	probably benign	Het
Arhgef1	C	T	7: 24,913,632	R251W	probably damaging	Het
Arl13b	T	A	16: 62,806,644	E231D	possibly damaging	Het
Bcl2l11	C	T	2: 128,158,256	A173V	probably benign	Het
Ccni	A	T	5: 93,188,074		probably null	Het
Cdh18	A	G	15: 23,474,399	E785G	probably benign	Het
Cdk4	A	G	10: 127,064,980	Y167C	probably benign	Het
Clip1	A	C	5: 123,630,403	V757G	possibly damaging	Het
Ctsc	T	C	7: 88,281,408	V65A	possibly damaging	Het
Cuedc2	G	A	19: 46,331,988	S48L	probably damaging	Het
Cyp39a1	T	A	17: 43,667,619	M4K	possibly damaging	Het
Dgcr8	T	C	16: 18,256,713	S733G	probably benign	Het
Dnhd1	T	C	7: 105,714,281	S4017P	probably damaging	Het
Ehbp1	A	G	11: 22,146,694	I255T	probably benign	Het
Fam214a	C	T	9: 75,008,959	A280V	probably benign	Het
Fam83e	T	C	7: 45,722,263	V28A	probably benign	Het
Fanci	A	G	7: 79,405,188		probably benign	Het
Fat1	C	T	8: 45,025,530	Q2538*	probably null	Het
Fshr	A	G	17: 89,200,581	F11S	unknown	Het
Gab1	G	T	8: 80,788,759	P310Q	probably damaging	Het
Galnt18	A	G	7: 111,616,492		probably benign	Het
Gm28042	C	A	2: 120,038,889	P355Q	probably damaging	Het
H2-DMa	A	G	17: 34,138,142	T205A	possibly damaging	Het
Hnf4g	A	T	3: 3,652,951	D420V	probably benign	Het
Il1b	A	G	2: 129,366,069	V164A	probably damaging	Het
Irf4	C	A	13: 30,757,502	H279Q	probably benign	Het
Loxhd1	A	G	18: 77,321,668	T203A	possibly damaging	Het
Lsamp	C	T	16: 41,955,319	P178S	probably damaging	Het
Mcm6	T	C	1: 128,349,418	S223G	possibly damaging	Het
Misp	G	T	10: 79,825,943	V65L	possibly damaging	Het
Mov10	A	G	3: 104,799,596	V666A	probably benign	Het
Mycbp2	A	T	14: 103,247,758	D1102E	probably damaging	Het
Myef2	G	T	2: 125,097,940		probably null	Het
Myo1e	T	A	9: 70,395,934	I1079N	probably damaging	Het
Nisch	G	T	14: 31,177,271		probably benign	Het
Obox7	T	C	7: 14,665,421	S191P	probably benign	Het
Olfr1137	A	T	2: 87,711,078	V276D	possibly damaging	Het
Olfr293	C	T	7: 86,664,123	L154F	probably benign	Het
Olfr339	G	A	2: 36,421,646	V83M	probably benign	Het
Olfr39	A	G	9: 20,286,577	R301G	probably damaging	Het
Olfr62	A	G	4: 118,666,188	I224V	probably damaging	Het
Olfr746	T	C	14: 50,654,008	V257A	probably benign	Het
Phf1	T	C	17: 26,937,359	S492P	possibly damaging	Het
Phyh	A	T	2: 4,938,353	N337I	probably damaging	Het
Poteg	A	T	8: 27,495,032		probably benign	Het
Prag1	G	T	8: 36,104,346	K694N	probably damaging	Het
Proser2	C	T	2: 6,103,059	E49K	probably damaging	Het
Pskh1	T	C	8: 105,929,757	V355A	possibly damaging	Het
Psmc2	T	C	5: 21,799,551	V182A	possibly damaging	Het
Rbfox1	A	G	16: 7,306,469		probably benign	Het
Slc26a7	A	T	4: 14,621,221	I55K	possibly damaging	Het
Slc5a8	G	A	10: 88,925,786		probably null	Het
Slitrk3	T	C	3: 73,050,339	R367G	probably damaging	Het
Spata31	A	G	13: 64,921,139	E367G	probably benign	Het
Srrm3	A	T	5: 135,835,038		probably null	Het
Ssmem1	T	C	6: 30,517,508	S6P	probably damaging	Het
Swap70	A	G	7: 110,221,827	D6G	probably benign	Het
Syt1	T	C	10: 108,583,915	E295G	probably damaging	Het
Tap2	A	T	17: 34,205,953	I192F	possibly damaging	Het
Tgoln1	C	T	6: 72,614,085	R348H	probably damaging	Het
Tln2	C	T	9: 67,227,107	V1373I	possibly damaging	Het
Tmc2	A	G	2: 130,247,934	D613G	possibly damaging	Het
Tmem62	T	A	2: 121,007,002	Y597N	probably benign	Het
Trhr2	T	A	8: 122,357,446	T272S	probably damaging	Het
Ttc30b	T	C	2: 75,937,416	K331R	probably benign	Het
Vmn2r92	T	C	17: 18,151,936	S3P	probably benign	Het
Wdfy3	A	T	5: 101,941,447	I627N	probably damaging	Het
Zfhx4	T	C	3: 5,413,016	S3564P	probably damaging	Het
Zfp467	T	G	6: 48,439,079	E213A	possibly damaging	Het
Zfp746	T	G	6: 48,064,477	K437N	probably damaging	Het
Zfp853	A	G	5: 143,289,085		probably benign	Het
Zranb1	T	A	7: 132,949,767	V49D	probably benign	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
R1569:Snrnp40	UTSW	4	130378043	splice site	probably null
R1616: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

2014-05-09