Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Snrnp40'

472933

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

Wdr57, 0610009C03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130253925-130283819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130256549 bp (GRCm39)

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,278,096 (GRCm39)	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Abtb2	A	T	2: 103,547,644 (GRCm39)	D1006V	probably benign	Het
Abtb3	A	C	10: 85,490,414 (GRCm39)	I1027L	probably damaging	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,863 (GRCm39)		probably benign	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Amotl2	T	G	9: 102,597,322 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,574,813 (GRCm39)	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,557,420 (GRCm39)		probably null	Het
Appl2	A	T	10: 83,436,855 (GRCm39)	D635E	probably damaging	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,440,843 (GRCm39)	M496T	probably benign	Het
Atp2c2	A	G	8: 120,475,891 (GRCm39)	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,295,238 (GRCm39)	H204R	probably damaging	Het
Atr	G	A	9: 95,744,850 (GRCm39)	V56I	probably benign	Het
Bod1l	G	A	5: 41,991,006 (GRCm39)	T183I	probably benign	Het
Ccdc168	T	C	1: 44,098,203 (GRCm39)	D965G	possibly damaging	Het
Ccdc171	A	T	4: 83,599,253 (GRCm39)	E689D	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cert1	T	C	13: 96,748,773 (GRCm39)	V281A	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,673,774 (GRCm39)	T981S	unknown	Het
Cpox	G	A	16: 58,492,986 (GRCm39)	A207T	probably damaging	Het
Cym	G	A	3: 107,123,413 (GRCm39)	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddx4	C	T	13: 112,750,230 (GRCm39)		probably null	Het
Ddx4	A	T	13: 112,787,894 (GRCm39)	V15E	probably benign	Het
Depdc1a	G	A	3: 159,232,273 (GRCm39)	E675K	probably damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Dlg4	C	T	11: 69,917,780 (GRCm39)	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,996,059 (GRCm39)	N395I	probably damaging	Het
Dzank1	A	T	2: 144,346,319 (GRCm39)	C249S	probably damaging	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,982,552 (GRCm39)	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,020,423 (GRCm39)	M584K	unknown	Het
Fam193b	A	G	13: 55,691,284 (GRCm39)	S197P	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbxo31	A	T	8: 122,279,178 (GRCm39)	Y436*	probably null	Het
Fbxo31	A	G	8: 122,279,180 (GRCm39)	Y436H	probably damaging	Het
Fcna	T	A	2: 25,515,338 (GRCm39)	D215V	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gcnt4	A	T	13: 97,083,914 (GRCm39)	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,653,870 (GRCm39)	T126A	probably benign	Het
Ggcx	A	G	6: 72,405,875 (GRCm39)	K569E	probably benign	Het
Gm10250	C	T	15: 5,150,578 (GRCm39)		probably benign	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Ifi44	G	A	3: 151,451,229 (GRCm39)	P241S	probably damaging	Het
Irs1	T	C	1: 82,265,184 (GRCm39)	T1011A	probably benign	Het
Jag2	A	T	12: 112,877,869 (GRCm39)	S595T	probably benign	Het
Kif5a	T	A	10: 127,066,823 (GRCm39)	Q960L	probably benign	Het
Kifc2	A	G	15: 76,548,548 (GRCm39)	E430G	possibly damaging	Het
Lama3	T	A	18: 12,544,627 (GRCm39)	C323*	probably null	Het
Lgsn	T	C	1: 31,242,823 (GRCm39)	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrpap1	A	G	5: 35,256,622 (GRCm39)	V120A	probably damaging	Het
Macrod2	T	A	2: 140,261,858 (GRCm39)	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,822,283 (GRCm39)	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,792,293 (GRCm39)		probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Ngb	G	A	12: 87,146,999 (GRCm39)	H73Y	probably benign	Het
Npepps	G	A	11: 97,117,652 (GRCm39)	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,199,923 (GRCm39)	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,041,137 (GRCm39)	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,155,368 (GRCm39)		probably null	Het
Or1e31	C	T	11: 73,689,665 (GRCm39)	C306Y	probably benign	Het
Or2y16	T	A	11: 49,334,696 (GRCm39)	F6Y	probably benign	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or51h1	T	A	7: 102,308,041 (GRCm39)	N4K	possibly damaging	Het
Or5an1c	C	T	19: 12,218,936 (GRCm39)	V30I	probably benign	Het
Or8b46	A	G	9: 38,450,371 (GRCm39)	Y60C	probably damaging	Het
Parp6	A	G	9: 59,542,267 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,411 (GRCm39)	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,133,757 (GRCm39)	E548G	probably damaging	Het
Polrmt	G	T	10: 79,575,357 (GRCm39)	H725N	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Prtn3	C	A	10: 79,717,899 (GRCm39)	P169H	probably damaging	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprh	A	T	7: 4,572,576 (GRCm39)	H467Q	probably benign	Het
Raph1	A	T	1: 60,528,273 (GRCm39)	I996N	probably damaging	Het
Rasa4	G	A	5: 136,120,083 (GRCm39)	W53*	probably null	Het
Rasgrp1	C	T	2: 117,115,356 (GRCm39)	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,390,333 (GRCm39)	E141G	probably damaging	Het
Rps12	T	C	10: 23,662,688 (GRCm39)	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,451,976 (GRCm39)	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Setx	G	A	2: 29,034,058 (GRCm39)	R332Q	probably damaging	Het
Siglec1	A	C	2: 130,917,843 (GRCm39)	S1011R	probably damaging	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Slc11a1	T	G	1: 74,423,247 (GRCm39)	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Slc30a1	A	C	1: 191,641,160 (GRCm39)	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,923,364 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Spta1	A	T	1: 174,058,232 (GRCm39)	Q1900L	probably benign	Het
Srgn	C	T	10: 62,333,631 (GRCm39)	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,353,411 (GRCm39)	C238G	probably damaging	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Thra	G	A	11: 98,646,990 (GRCm39)	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845 (GRCm39)	D246G	probably damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Usp10	A	G	8: 120,667,930 (GRCm39)	Y77C	probably benign	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,740,867 (GRCm39)	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,369,370 (GRCm39)	I68V	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Wsb1	A	G	11: 79,131,199 (GRCm39)	M399T	probably benign	Het
Xbp1	C	T	11: 5,471,167 (GRCm39)	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,032,929 (GRCm39)	D577E	probably benign	Het
Zfp366	A	G	13: 99,382,991 (GRCm39)	D718G	probably damaging	Het
Zfp408	A	T	2: 91,475,369 (GRCm39)	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,934,322 (GRCm39)	W60R	probably null	Het
Zfp606	A	T	7: 12,227,932 (GRCm39)	K626N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het

Other mutations in Snrnp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Snrnp40	APN	4	130,254,014 (GRCm39)	missense	probably damaging	0.99
IGL02306:Snrnp40	APN	4	130,258,893 (GRCm39)	missense	probably benign	0.21
skywarp	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0027:Snrnp40	UTSW	4	130,262,066 (GRCm39)	missense	probably damaging	1.00
R0027:Snrnp40	UTSW	4	130,262,066 (GRCm39)	missense	probably damaging	1.00
R0077:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0134:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0211:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0349:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0371:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0372:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0376:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0377:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0400:Snrnp40	UTSW	4	130,256,443 (GRCm39)	missense	probably damaging	1.00
R0442:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0443:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0486:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0488:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0568:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0624:Snrnp40	UTSW	4	130,256,451 (GRCm39)	missense	probably damaging	0.98
R0632:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0650:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R0733:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1161:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1182:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1234:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1236:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1305:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1308:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1333:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1413:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1569:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1616:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1656:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1675:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1759:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1856:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1901:Snrnp40	UTSW	4	130,279,768 (GRCm39)	missense	probably damaging	0.98
R1912:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1930:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R1931:Snrnp40	UTSW	4	130,271,836 (GRCm39)	splice site	probably null
R2435:Snrnp40	UTSW	4	130,278,344 (GRCm39)	missense	probably damaging	1.00
R3722:Snrnp40	UTSW	4	130,262,068 (GRCm39)	missense	possibly damaging	0.76
R4799:Snrnp40	UTSW	4	130,256,549 (GRCm39)	missense	probably damaging	1.00
R5075:Snrnp40	UTSW	4	130,282,375 (GRCm39)	missense	probably benign	0.07
R5104:Snrnp40	UTSW	4	130,258,958 (GRCm39)	missense	possibly damaging	0.78
R5369:Snrnp40	UTSW	4	130,256,439 (GRCm39)	missense	probably damaging	0.97
R5699:Snrnp40	UTSW	4	130,258,958 (GRCm39)	missense	possibly damaging	0.78
R7529:Snrnp40	UTSW	4	130,278,275 (GRCm39)	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130,271,867 (GRCm39)	missense	probably benign	0.00
R8412:Snrnp40	UTSW	4	130,278,316 (GRCm39)	missense	possibly damaging	0.49
R9319:Snrnp40	UTSW	4	130,256,545 (GRCm39)	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

2017-04-14