Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Snrnp40'

65604

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0371 (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: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,288,047	R1068C	probably benign	Het
Afmid	C	T	11: 117,835,140		probably benign	Het
Aqr	A	G	2: 114,157,604	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,381,057	V178A	probably damaging	Het
Ccdc110	T	A	8: 45,942,806	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,562,812	E51*	probably null	Het
Cep290	T	A	10: 100,518,564		probably benign	Het
Cilp2	T	C	8: 69,881,606	E914G	probably damaging	Het
Col6a2	T	C	10: 76,614,473	N208S	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,326,683	R229G	probably damaging	Het
Dach1	C	T	14: 97,969,903	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,450,823	N321S	probably benign	Het
Enpep	C	T	3: 129,283,867		probably null	Het
Fat1	T	C	8: 44,951,892	L560P	probably damaging	Het
Fdxr	T	C	11: 115,276,089	H58R	possibly damaging	Het
Filip1	G	T	9: 79,860,091	P147T	probably damaging	Het
Fras1	G	A	5: 96,555,331	E318K	possibly damaging	Het
Gm4759	A	T	7: 106,422,779	C339S	unknown	Het
Grk2	T	C	19: 4,291,586		probably null	Het
Havcr1	T	C	11: 46,752,589	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,277,368		probably benign	Het
Ildr2	G	A	1: 166,303,564	V330I	probably damaging	Het
Ino80d	T	C	1: 63,057,956		probably benign	Het
Iqsec1	A	G	6: 90,670,403		probably benign	Het
Irf2bpl	C	T	12: 86,881,643	W752*	probably null	Het
Kdr	T	A	5: 75,941,834	H1211L	probably benign	Het
Klri2	A	G	6: 129,732,143	*249R	probably null	Het
Ktn1	A	T	14: 47,724,003	K1054*	probably null	Het
Lactb2	A	G	1: 13,650,760	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560	C15*	probably null	Het
Mrs2	T	C	13: 24,993,095	I430V	probably benign	Het
Myo3b	C	T	2: 70,252,960		probably benign	Het
Nbas	C	T	12: 13,331,095	T696I	probably damaging	Het
Nsun6	T	C	2: 15,030,087	D240G	probably damaging	Het
Nup107	T	C	10: 117,763,769	E615G	probably damaging	Het
Olfr1283	A	T	2: 111,369,153	I174L	probably benign	Het
Olfr205	A	G	16: 59,329,222	C96R	possibly damaging	Het
Olfr411	T	A	11: 74,346,934	I217F	probably damaging	Het
Olfr447	A	T	6: 42,911,938	R138S	probably benign	Het
Pabpc1l	G	A	2: 164,035,272	V256M	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sik1	T	C	17: 31,848,984	D409G	probably benign	Het
Slc22a22	A	T	15: 57,249,735	D369E	possibly damaging	Het
Smg1	T	A	7: 118,168,300		probably benign	Het
Snap29	C	A	16: 17,406,203	D27E	probably benign	Het
Sorcs3	A	G	19: 48,603,894	I333V	probably benign	Het
Spag7	A	G	11: 70,664,796	M105T	probably damaging	Het
Srgap3	A	T	6: 112,771,471	S407T	probably damaging	Het
Supt6	T	C	11: 78,223,157	N854S	probably benign	Het
Syne2	T	C	12: 75,933,845	S1460P	probably damaging	Het
Taok3	C	T	5: 117,206,687	Q160*	probably null	Het
Tchhl1	C	A	3: 93,469,577	A27E	probably damaging	Het
Tet1	T	C	10: 62,878,399	D539G	probably damaging	Het
Tut1	T	C	19: 8,962,773	F374L	probably damaging	Het
Unc5c	C	T	3: 141,827,522	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,590,132	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,257,294	H285L	probably benign	Het
Wdr62	G	A	7: 30,242,158	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,788,723	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190	N106S	probably damaging	Het
Zfp345	G	T	2: 150,472,063	T518N	possibly damaging	Het
Zfp648	A	T	1: 154,204,667	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,526,674	E89K	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
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
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