Mutagenetix > Incidental Mutations

Incidental Mutation 'R5699:Snrnp40'

446557

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

043327-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5699 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

130360132-130390026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130365165 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 122 (G122V)

Ref Sequence

ENSEMBL: ENSMUSP00000101616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105994]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105994
AA Change: G122V

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: G122V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181161

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,319		noncoding transcript	Het
4930486L24Rik	A	G	13: 60,853,596	F106L	possibly damaging	Het
Adam11	A	T	11: 102,773,640	M385L	probably benign	Het
Adgre1	C	T	17: 57,481,007	P925S	probably benign	Het
Adh7	G	A	3: 138,226,326	A234T	probably benign	Het
Ano2	A	G	6: 125,872,740	E475G	probably damaging	Het
BC055324	A	T	1: 163,957,551	V753D	probably benign	Het
C2cd4c	A	G	10: 79,612,551	V254A	probably benign	Het
Car13	A	G	3: 14,650,689	Y89C	probably damaging	Het
Cd38	A	G	5: 43,900,386	K100R	probably damaging	Het
Cdh11	A	G	8: 102,634,543	I721T	probably damaging	Het
Cdh2	G	A	18: 16,646,522	Q161*	probably null	Het
Clk1	T	C	1: 58,420,195	K135R	probably damaging	Het
Col5a1	G	A	2: 27,997,599	G961R	unknown	Het
Cpt1b	T	A	15: 89,424,273	I151F	probably benign	Het
Cyp51	A	G	5: 4,101,213	F139L	probably damaging	Het
Disp1	TTGA	T	1: 183,088,555		probably null	Het
Dnah8	T	C	17: 30,810,324	I4089T	probably benign	Het
Dnali1	C	T	4: 125,059,050	V227M	possibly damaging	Het
Eml4	T	G	17: 83,410,085	S29A	probably benign	Het
Eps8l3	C	A	3: 107,879,579	P24T	probably benign	Het
Fancc	A	T	13: 63,330,632		probably null	Het
Grid2	G	A	6: 63,908,991	A124T	probably damaging	Het
Ikbke	C	T	1: 131,276,467		probably null	Het
Kyat1	G	A	2: 30,186,650	A284V	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,182	L393F	probably benign	Het
Lrrc26	T	A	2: 25,290,524	L179Q	probably damaging	Het
Mlx	A	G	11: 101,088,694	D113G	possibly damaging	Het
Myod1	A	G	7: 46,376,983	K104R	probably damaging	Het
Nwd1	G	A	8: 72,702,974		probably null	Het
Olfr1474	A	G	19: 13,470,972	M1V	probably null	Het
Olfr663	T	G	7: 104,703,993	V142G	probably damaging	Het
Olfr788	A	C	10: 129,472,877	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,262,781	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,731,917	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,599		probably benign	Het
Prrt2	T	A	7: 127,018,727	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 180,278,668	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,930,253	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,821,285	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,962,485	F754S	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scn3a	T	C	2: 65,507,264	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slco1a5	C	A	6: 142,248,816	C367F	probably damaging	Het
Slit1	A	G	19: 41,625,520		probably null	Het
Slit2	G	A	5: 48,220,991		probably null	Het
Stk16	T	A	1: 75,213,604	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298	I477V	probably benign	Het
Tll1	T	A	8: 64,117,940	E199D	probably damaging	Het
Trhde	A	T	10: 114,588,502	D459E	probably benign	Het
Ttn	T	C	2: 76,711,537	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,998,788	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,372,055	V212D	possibly damaging	Het
Ubqln5	A	G	7: 104,129,425	V64A	possibly damaging	Het
Usp47	A	G	7: 112,109,997	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,475,239	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,728,057	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,216,526	C25S	probably damaging	Het
Zeb2	T	A	2: 44,997,788	N404I	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
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
R7529:Snrnp40	UTSW	4	130384482	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130378074	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAACCAGTGTTGTGCCATG -3'
(R):5'- ATGTCTCATGAACGGGCTGC -3'

Sequencing Primer
(F):5'- TGCCATGGGTATATAATTTCGAAAAG -3'
(R):5'- GTGGGCCTCAAAACTGTGCTTC -3'

Posted On

2016-11-21