Mutagenetix > Incidental Mutation

Incidental Mutation 'R4799:Snrnp40'

404210

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

041997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130360132-130390026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130362756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 91 (I91M)

Ref Sequence

ENSEMBL: ENSMUSP00000101616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105994] [ENSMUST00000134159]

AlphaFold

Q6PE01

Predicted Effect

probably damaging
Transcript: ENSMUST00000105994
AA Change: I91M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: I91M

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

probably benign
Transcript: ENSMUST00000134159

SMART Domains

Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772

Domain	Start	End	E-Value	Type
S1	14	86	4.47e-11	SMART
ZnF_C2HC	132	148	4.56e-1	SMART
low complexity region	160	171	N/A	INTRINSIC
low complexity region	182	211	N/A	INTRINSIC
low complexity region	227	240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181161

Meta Mutation Damage Score

0.3903

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (122/126)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,169,064	S170C	probably damaging	Het
Acads	T	A	5: 115,113,090	T112S	probably benign	Het
Adgrl1	A	G	8: 83,935,573	H1021R	probably benign	Het
Ago3	A	T	4: 126,347,872		probably null	Het
Ap5m1	A	G	14: 49,081,070	K412E	probably benign	Het
Arid1b	C	T	17: 5,339,221	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,376,708		probably null	Het
AU040320	A	G	4: 126,839,669	T661A	probably benign	Het
Capn7	T	C	14: 31,360,557	I455M	probably benign	Het
Capzb	A	G	4: 139,192,999		probably benign	Het
Car10	G	A	11: 93,578,666	V156I	possibly damaging	Het
Cbs	T	A	17: 31,632,852	D59V	probably damaging	Het
Ccar2	T	C	14: 70,139,554	E819G	probably damaging	Het
Cdc73	T	A	1: 143,627,875	Q346L	probably benign	Het
Cdhr4	T	C	9: 107,998,699		probably benign	Het
Chd2	A	T	7: 73,484,436	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,358,725	G402R	probably benign	Het
Cps1	T	C	1: 67,142,986	Y120H	probably damaging	Het
Csf2	T	C	11: 54,249,480	D44G	probably benign	Het
Cubn	T	A	2: 13,287,024	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,351,058	S1788P	probably damaging	Het
Cul9	T	C	17: 46,500,844	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,773,849	S451R	probably damaging	Het
Cyp51	T	A	5: 4,083,256	T461S	probably damaging	Het
Cyth1	T	C	11: 118,183,942	M164V	probably damaging	Het
D130043K22Rik	T	C	13: 24,878,040	I664T	probably damaging	Het
Ddc	T	C	11: 11,846,632		probably null	Het
Ddx21	A	T	10: 62,588,121	D589E	probably damaging	Het
Dgkb	C	T	12: 38,114,568	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,850,343	M415L	probably benign	Het
Efnb2	A	T	8: 8,623,104		probably null	Het
Elp4	T	A	2: 105,809,267	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,910,094	N77S	probably damaging	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
F2rl1	G	A	13: 95,513,969	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,557,815	M65T	probably damaging	Het
Fanca	A	G	8: 123,288,202	V689A	probably damaging	Het
Fbxo18	C	T	2: 11,755,747	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,903,861	Q98*	probably null	Het
Flrt3	T	C	2: 140,660,166	N514S	probably damaging	Het
Foxj3	A	T	4: 119,621,660	S438C	unknown	Het
Gcm2	T	C	13: 41,103,494	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,954,488		noncoding transcript	Het
Gm5096	C	A	18: 87,756,449	A32E	probably damaging	Het
Gpnmb	G	T	6: 49,045,483		probably null	Het
Gsap	C	A	5: 21,250,943	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,852,865	Y270F	probably benign	Het
Il22	C	A	10: 118,205,153	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,677,300	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,744,975		probably null	Het
Lrrcc1	C	T	3: 14,536,096	R63*	probably null	Het
Lyar	A	G	5: 38,224,779	D35G	probably damaging	Het
Mbd4	C	T	6: 115,845,322	R442Q	probably benign	Het
Mib2	G	T	4: 155,659,772	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052		probably null	Het
Mtmr3	G	A	11: 4,487,764	H897Y	probably benign	Het
Muc5b	T	A	7: 141,847,716	C566*	probably null	Het
Nap1l4	A	T	7: 143,534,463		probably null	Het
Ncor2	A	T	5: 125,037,060		probably null	Het
Ndufa7	T	C	17: 33,838,213		probably benign	Het
Ndufs1	C	A	1: 63,160,949	G268V	probably damaging	Het
Nfs1	A	G	2: 156,134,449	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,489,501	A1528S	possibly damaging	Het
Olfr1089	C	T	2: 86,732,674		probably null	Het
Olfr1252	C	T	2: 89,721,362	V250I	probably benign	Het
Olfr372	A	G	8: 72,058,094	N138S	probably benign	Het
Olfr67	A	T	7: 103,787,481	F265L	possibly damaging	Het
Olfr8	T	G	10: 78,956,097	D297E	probably null	Het
Pcdhb8	A	G	18: 37,355,653	D128G	probably damaging	Het
Pkp4	A	T	2: 59,342,105	I522F	probably damaging	Het
Plod3	G	A	5: 136,990,800	A398T	probably benign	Het
Pou4f3	A	G	18: 42,395,987	M332V	possibly damaging	Het
Prox1	A	G	1: 190,153,472	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,150,042	P2006L	probably damaging	Het
Prss50	A	G	9: 110,863,796	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126	S71N	probably benign	Het
Ptprd	A	G	4: 76,091,532	I764T	probably benign	Het
Ptprr	C	T	10: 116,048,218	A60V	probably benign	Het
Raet1e	T	A	10: 22,181,300	D174E	probably damaging	Het
Rbfox2	T	C	15: 77,091,818	I308M	probably benign	Het
Rnf20	G	C	4: 49,649,962		probably null	Het
Rpap2	A	T	5: 107,620,247	H317L	probably benign	Het
Rsph6a	T	A	7: 19,065,858	Y471*	probably null	Het
Sdhb	A	G	4: 140,977,466	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Sin3b	A	C	8: 72,725,643	I126L	probably benign	Het
Skint2	G	A	4: 112,652,108	A363T	probably benign	Het
Slc22a30	A	G	19: 8,344,404	I432T	probably benign	Het
Slc2a2	G	A	3: 28,717,532		probably null	Het
Slco1a5	T	C	6: 142,248,807	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,589,057	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,808,015	H290Y	probably damaging	Het
Spag9	A	T	11: 94,048,516	K90N	possibly damaging	Het
Spag9	T	A	11: 94,048,517	F91I	probably damaging	Het
Stox1	A	C	10: 62,665,737	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,590,168	V18A	possibly damaging	Het
Syne2	A	G	12: 75,899,167	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,192,628	Q327L	probably benign	Het
Terf2	G	T	8: 107,076,675	H425Q	probably benign	Het
Timd2	A	T	11: 46,677,267	Y233*	probably null	Het
Tmem39a	A	G	16: 38,591,162		probably benign	Het
Trappc10	T	C	10: 78,201,590	D793G	possibly damaging	Het
Ttc30a2	T	A	2: 75,977,385	Y261F	probably benign	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,215,928		probably benign	Het
Unc93a	T	C	17: 13,120,895		probably null	Het
Utrn	T	C	10: 12,750,069	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,632,944	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,011,846	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,462,629	D771V	probably damaging	Het
Wdr66	C	T	5: 123,302,772	H1131Y	probably benign	Het
Wls	C	T	3: 159,897,445	T165I	probably benign	Het
Zc3h13	G	A	14: 75,339,423	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,693,431	K224E	probably damaging	Het
Zfp54	T	A	17: 21,434,140	Y299N	probably damaging	Het
Zfp820	A	T	17: 21,818,985	L454Q	probably benign	Het
Zfp960	T	A	17: 17,088,436	F471I	probably damaging	Het
Zswim5	A	G	4: 116,972,972	I515V	probably benign	Het
Zzef1	G	T	11: 72,859,623	S919I	probably benign	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
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'- TGCTATCCCTGACCCAGATG -3'
(R):5'- CCGAAGCAACCTACTTTCCAATTAG -3'

Sequencing Primer
(F):5'- GCTATCCCTGACCCAGATGAGATG -3'
(R):5'- ACCTACTTTCCAATTAGTACATTTCC -3'

Posted On

2016-07-22