Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Snrnp40'

159679

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1413 (G1)

Quality Score

225

Status

Not 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: 95.7%
20x: 91.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,590,496	V1504A	probably damaging	Het
Abcc9	T	C	6: 142,627,519	N1051D	possibly damaging	Het
Actr6	A	T	10: 89,728,157	Y84*	probably null	Het
Adgrl3	T	C	5: 81,693,519	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,587		probably benign	Het
Amd1	A	T	10: 40,290,408	C157*	probably null	Het
Ank1	G	A	8: 23,119,377	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,230,564	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,279,344	T803I	probably damaging	Het
Atr	T	G	9: 95,932,442	L2064R	probably damaging	Het
Bmp3	T	A	5: 98,872,405	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,353,892	*54W	probably null	Het
Cdc45	A	T	16: 18,808,741	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,963,443	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,994,098	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,673,939	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,111,353	D166G	unknown	Het
Dmbt1	T	A	7: 131,050,214	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,409	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Fah	T	C	7: 84,593,212	D296G	probably damaging	Het
Fam83g	A	G	11: 61,702,678	N346S	probably damaging	Het
Fgl1	T	A	8: 41,191,601	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,833,862	L284R	probably damaging	Het
Frem3	T	A	8: 80,668,801	M1819K	probably benign	Het
Fsip2	T	A	2: 82,988,418	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,619,428	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,833,129	Y638H	probably damaging	Het
Gp2	T	A	7: 119,451,630	I293F	probably benign	Het
Gpi1	T	C	7: 34,230,155	N20S	probably benign	Het
Gxylt1	C	T	15: 93,254,392	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091	K382E	possibly damaging	Het
Hook3	T	A	8: 26,038,106	E585D	probably damaging	Het
Irf6	G	A	1: 193,169,305	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,249,750	T2259A	probably damaging	Het
Lactb	T	A	9: 66,970,919	R209S	probably damaging	Het
Lonp2	A	G	8: 86,641,584	D342G	probably damaging	Het
Mmachc	T	C	4: 116,705,997	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977	W573C	probably damaging	Het
Olfr1133	T	A	2: 87,645,838	Y95F	probably benign	Het
Olfr1415	A	T	1: 92,490,888	I289N	probably damaging	Het
Olfr70	T	A	4: 43,697,011	H54L	possibly damaging	Het
Pappa2	A	T	1: 158,936,554	D462E	probably benign	Het
Pcdh12	A	T	18: 38,283,443	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,484,444		probably null	Het
Prkce	T	A	17: 86,496,018	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,339,679	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,182,660	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568	C625S	probably benign	Het
Shcbp1	T	G	8: 4,741,968		probably null	Het
Spag5	T	A	11: 78,305,317	C449*	probably null	Het
Stpg3	T	C	2: 25,213,850	D158G	probably damaging	Het
Sycp2	T	C	2: 178,347,797	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,215,790	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,563,567	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982	V434A	probably benign	Het
Usp11	A	G	X: 20,718,707	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,863,963	I419L	probably benign	Het
Wfs1	C	A	5: 36,982,078	R72L	possibly damaging	Het
Zan	T	C	5: 137,427,939	D2525G	unknown	Het
Zfp280c	A	G	X: 48,563,838	V285A	probably benign	Het
Zfp511	T	A	7: 140,037,615	F177I	probably damaging	Het
Zfp964	A	G	8: 69,663,070	M107V	unknown	Het
Zmynd11	A	G	13: 9,710,220	Y122H	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
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'- CTAAGTGGGTGCAGGGAATCATA -3'
(R):5'- TAATCTGATCGCTCGTGTCATTG -3'

Sequencing Primer
(F):5'- ATACGTGGGTGCTCTGGAAG -3'
(R):5'- TTGAAGGTCACAGCCAACAC -3'

Posted On

2014-03-14