Mutagenetix > Incidental Mutation

Incidental Mutation 'R0376:Snrnp40'

65634

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

038582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0376 (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: 98.0%
10x: 95.5%
20x: 90.0%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	G	A	2: 173,528,327	E132K	probably benign	Het
Adam6a	T	C	12: 113,544,690	Y228H	probably damaging	Het
Als2	A	G	1: 59,215,565	F211S	probably benign	Het
Ankrd12	T	A	17: 66,053,009	Q11L	probably damaging	Het
Anxa5	T	C	3: 36,460,488	R115G	probably damaging	Het
Arhgap10	T	C	8: 77,450,824		probably benign	Het
Atp2a3	T	A	11: 72,982,702	D782E	probably damaging	Het
Bcr	G	T	10: 75,145,327	L659F	probably damaging	Het
Cacna1b	A	G	2: 24,659,003		probably benign	Het
Camp	C	T	9: 109,848,399	C122Y	probably damaging	Het
Col12a1	A	T	9: 79,693,494	S769R	probably benign	Het
Cyp2j6	T	A	4: 96,526,023	K335I	probably damaging	Het
Cyp3a11	A	C	5: 145,862,452	Y308*	probably null	Het
Flnb	G	A	14: 7,946,014		probably null	Het
Frmd4a	G	T	2: 4,572,387	M351I	probably damaging	Het
Gabrg2	C	T	11: 41,916,315	S365N	possibly damaging	Het
Ggn	T	C	7: 29,173,022	V609A	possibly damaging	Het
H60c	T	C	10: 3,260,435		probably benign	Het
Hexdc	T	A	11: 121,218,165		probably benign	Het
Igsf9b	A	G	9: 27,334,582	T1282A	probably benign	Het
Ikzf4	T	C	10: 128,632,756	N618S	probably benign	Het
Ints14	A	G	9: 64,983,990	K418E	probably damaging	Het
Iqgap1	T	C	7: 80,723,879	E1454G	probably benign	Het
Kif13b	T	C	14: 64,757,404		probably benign	Het
Krt71	A	C	15: 101,738,070	F328C	probably damaging	Het
Lama2	T	C	10: 27,015,546	T2524A	possibly damaging	Het
Mfn2	C	T	4: 147,885,526	V363I	probably benign	Het
Mkln1	A	T	6: 31,478,018	D496V	probably benign	Het
Olfr450	A	T	6: 42,818,292	M274L	probably benign	Het
Patj	T	A	4: 98,568,987	I1242N	probably damaging	Het
Pcnx	C	T	12: 81,974,579		probably benign	Het
Plcb2	T	C	2: 118,717,240	E502G	probably damaging	Het
Plppr4	G	T	3: 117,323,091	H314Q	probably benign	Het
Prkcsh	A	G	9: 22,010,251		probably benign	Het
Prr14	C	T	7: 127,476,643	H181Y	probably benign	Het
Pus3	A	T	9: 35,566,422	M317L	possibly damaging	Het
Pwwp2a	T	A	11: 43,704,672	D221E	probably benign	Het
Rbm15	T	C	3: 107,330,938	S715G	probably benign	Het
Rbm28	A	G	6: 29,158,928		probably benign	Het
Rhobtb2	A	T	14: 69,796,735	V347E	probably benign	Het
Rimbp2	C	T	5: 128,803,861	R161Q	probably damaging	Het
Scgb1b27	C	T	7: 34,021,897	T70I	possibly damaging	Het
Slc40a1	T	C	1: 45,912,491		probably benign	Het
Spaca9	A	G	2: 28,693,660	V104A	probably benign	Het
Spag7	T	C	11: 70,669,190		probably benign	Het
Sugp1	A	G	8: 70,052,638	D85G	probably damaging	Het
Sun1	A	G	5: 139,226,699		probably benign	Het
Tcp11l1	C	A	2: 104,697,505		probably benign	Het
Tead3	A	C	17: 28,341,365	D88E	probably damaging	Het
Tecpr1	A	T	5: 144,207,476	V636E	possibly damaging	Het
Tldc2	T	C	2: 157,095,305	W147R	probably damaging	Het
Tmem161b	A	G	13: 84,292,383	T125A	probably benign	Het
Trrap	A	G	5: 144,816,339	M1825V	probably benign	Het
Ttbk2	A	G	2: 120,777,581	F186L	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Zc3h7a	T	C	16: 11,156,202	M240V	probably benign	Het
Zc3hc1	G	C	6: 30,372,790	S351W	probably damaging	Het
Zfp366	T	C	13: 99,234,251	M493T	probably benign	Het
Zfp93	C	T	7: 24,275,861	P424S	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
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