Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Snrnp40'

258955

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130360132-130390026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130368275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 152 (T152I)

Ref Sequence

ENSEMBL: ENSMUSP00000101616 (fasta)

Gene Model

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

AlphaFold

Q6PE01

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105994
AA Change: T152I

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: T152I

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

Meta Mutation Damage Score

0.1243

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

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
Adgb	A	T	10: 10,340,510	S1485T	probably benign	Het
Akap9	A	G	5: 4,070,351	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153	Y482H	probably damaging	Het
Appl1	G	A	14: 26,927,844	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,850,291	E1420G	probably damaging	Het
Asic3	A	T	5: 24,416,999	Y419F	probably benign	Het
Atg7	A	G	6: 114,695,663	Y279C	probably damaging	Het
Braf	G	A	6: 39,623,676	P616L	probably damaging	Het
Btnl2	T	C	17: 34,358,135	M88T	possibly damaging	Het
C1rb	T	A	6: 124,580,661	Y586N	probably damaging	Het
Cacna1s	T	C	1: 136,069,042	F127S	possibly damaging	Het
Cd47	A	G	16: 49,867,842	I42V	probably benign	Het
Cox8b	T	A	7: 140,899,005	K66*	probably null	Het
Diras2	T	A	13: 52,508,023	I83F	probably damaging	Het
Dlg2	T	A	7: 91,711,800		probably null	Het
Dnah8	G	A	17: 30,854,898	R4514H	probably damaging	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,397,488	L204P	probably damaging	Het
Fam170a	C	T	18: 50,282,204	P306S	probably benign	Het
Fam205a1	T	C	4: 42,851,472	E228G	probably benign	Het
Fbxl12	A	T	9: 20,638,972		probably null	Het
Fndc3a	T	A	14: 72,540,208	I1186F	probably benign	Het
Gm12886	T	A	4: 121,417,470	D71V	probably damaging	Het
Hist1h3g	T	C	13: 23,535,552	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021		probably benign	Het
Ighv8-11	A	G	12: 115,567,151	I119T	possibly damaging	Het
Ism1	A	T	2: 139,732,011	R94*	probably null	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kcnk15	T	C	2: 163,858,294	L132P	probably damaging	Het
Lrmda	T	A	14: 22,027,331		probably benign	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Mkl2	C	T	16: 13,385,693	A201V	probably damaging	Het
Ncstn	G	A	1: 172,067,895	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,549,505		probably null	Het
Olfr1248	A	T	2: 89,618,159	I11N	possibly damaging	Het
Olfr958	A	C	9: 39,550,122	C250G	probably damaging	Het
Omp	T	C	7: 98,145,213	N69S	probably benign	Het
Pak1	C	T	7: 97,854,497	P13L	probably damaging	Het
Pde4d	T	A	13: 109,951,332	C744*	probably null	Het
Pelp1	T	C	11: 70,398,200	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,894,969	P349R	probably damaging	Het
Ptprk	A	G	10: 28,383,623	D353G	probably damaging	Het
Ptprs	A	G	17: 56,417,485	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,196,917	A231S	probably benign	Het
Rpn1	G	A	6: 88,090,300		probably null	Het
Rreb1	T	A	13: 37,947,098	D1409E	probably benign	Het
Sipa1l2	G	A	8: 125,473,584	H668Y	probably damaging	Het
Slc35a5	A	T	16: 45,147,322	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,208,124	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,342,977	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,335,533	R445*	probably null	Het
Snapc4	A	G	2: 26,365,428	L1028P	probably benign	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Tex2	C	T	11: 106,546,740	W203*	probably null	Het
Tmcc1	T	C	6: 116,133,822	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Ttll6	A	G	11: 96,133,921	N46D	probably benign	Het
Txk	T	A	5: 72,707,735	K266*	probably null	Het
Uggt2	T	C	14: 119,041,518	E859G	probably damaging	Het
Uros	A	T	7: 133,702,391	M1K	probably null	Het
Vps13b	T	A	15: 35,671,382	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863		probably null	Het
Zfp760	A	G	17: 21,722,162	Y106C	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
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'- GAGAGATGACTTTTGCCCCTT -3'
(R):5'- AGGAAATTTTAAGTGTGCTTTGGAA -3'

Sequencing Primer
(F):5'- CAGCATCAGTTACAACCGGTTTGG -3'
(R):5'- CTTTGGAATACTGGCAGGAAGAC -3'

Posted On

2015-01-23