Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Snrnp40'

429529

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130360132-130390026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130362646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 55 (S55P)

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: S55P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: S55P

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

0.1967

Coding Region Coverage

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

Validation Efficiency

99% (77/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	A	6: 41,033,006 (GRCm38)	R131S	probably benign	Het
A2ml1	T	C	6: 128,568,833 (GRCm38)	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,379,091 (GRCm38)		probably benign	Het
Abcb8	C	T	5: 24,400,139 (GRCm38)	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,112,510 (GRCm38)	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,564 (GRCm38)	V175A	probably benign	Het
B3galnt2	T	C	13: 13,994,425 (GRCm38)		probably null	Het
BC024139	A	C	15: 76,120,222 (GRCm38)	S711R	probably benign	Het
Bod1l	A	G	5: 41,827,183 (GRCm38)	I508T	probably damaging	Het
Btnl6	T	A	17: 34,507,985 (GRCm38)	R524*	probably null	Het
C3	C	A	17: 57,221,159 (GRCm38)	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,061,414 (GRCm38)	A367V	probably benign	Het
Ccr1	A	T	9: 123,964,289 (GRCm38)	M68K	probably damaging	Het
Cd27	T	A	6: 125,234,364 (GRCm38)		probably benign	Het
Celf2	C	A	2: 7,081,081 (GRCm38)		probably benign	Het
Cfap54	T	C	10: 93,061,257 (GRCm38)		probably benign	Het
Cfap97	A	G	8: 46,169,650 (GRCm38)	K26E	probably damaging	Het
Clcn4	T	A	7: 7,296,033 (GRCm38)	I48F	probably benign	Het
Cnot7	A	T	8: 40,494,020 (GRCm38)	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750 (GRCm38)	I654V	unknown	Het
Dip2a	A	G	10: 76,292,360 (GRCm38)	I22T	probably damaging	Het
Eif4g3	C	T	4: 138,183,334 (GRCm38)	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,858,783 (GRCm38)	G725D	probably damaging	Het
F12	T	C	13: 55,418,491 (GRCm38)	E496G	probably benign	Het
Fam227a	A	T	15: 79,615,436 (GRCm38)	S573T	probably benign	Het
Fnip1	T	C	11: 54,502,589 (GRCm38)	V593A	probably benign	Het
Focad	T	A	4: 88,121,373 (GRCm38)		probably benign	Het
Frem1	A	G	4: 83,001,739 (GRCm38)	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,765,747 (GRCm38)		probably null	Het
Gm5592	A	T	7: 41,218,211 (GRCm38)		probably benign	Het
Gm6185	A	T	1: 161,209,760 (GRCm38)		noncoding transcript	Het
Gm7935	A	T	15: 74,081,114 (GRCm38)		noncoding transcript	Het
Grb14	C	T	2: 64,917,309 (GRCm38)	V369I	probably benign	Het
Gstm5	G	A	3: 107,898,466 (GRCm38)	A198T	probably damaging	Het
Herc2	T	A	7: 56,182,700 (GRCm38)	V3048D	probably damaging	Het
Htra4	T	G	8: 25,033,569 (GRCm38)	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,637,307 (GRCm38)	M1T	probably null	Het
Ints6	T	C	14: 62,743,935 (GRCm38)	T135A	probably damaging	Het
Itpr1	T	A	6: 108,519,424 (GRCm38)	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,692,558 (GRCm38)	M268L	probably benign	Het
Lrp1b	G	T	2: 41,004,613 (GRCm38)	S2201*	probably null	Het
Lrp2	T	C	2: 69,459,560 (GRCm38)	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,272,904 (GRCm38)	I539N	possibly damaging	Het
Map3k6	T	C	4: 133,247,681 (GRCm38)	I675T	probably damaging	Het
Map3k9	T	A	12: 81,722,052 (GRCm38)	E1074V	probably damaging	Het
Med13l	T	A	5: 118,724,010 (GRCm38)	S339R	probably benign	Het
Mrps18a	T	C	17: 46,125,626 (GRCm38)		probably benign	Het
Nat8f2	G	T	6: 85,867,872 (GRCm38)	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,181,799 (GRCm38)	I406T	probably benign	Het
Npc1l1	A	G	11: 6,217,705 (GRCm38)		probably null	Het
Olfr202	A	T	16: 59,284,380 (GRCm38)	M39K	probably damaging	Het
Olfr419	A	G	1: 174,250,441 (GRCm38)	V162A	probably damaging	Het
Ostf1	C	T	19: 18,581,325 (GRCm38)	G198E	probably benign	Het
Pcsk5	A	G	19: 17,581,255 (GRCm38)	V596A	probably damaging	Het
Pde4c	T	C	8: 70,750,105 (GRCm38)	*647Q	probably null	Het
Pkm	A	T	9: 59,670,634 (GRCm38)	I245F	probably damaging	Het
Ptprj	T	C	2: 90,469,641 (GRCm38)	H179R	probably benign	Het
Rapgef2	A	T	3: 79,069,432 (GRCm38)	S1356T	probably benign	Het
Rbm45	T	A	2: 76,370,250 (GRCm38)	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Scara5	CG	C	14: 65,759,662 (GRCm38)		probably null	Het
Scel	A	T	14: 103,586,493 (GRCm38)	I386F	probably benign	Het
Serpinb5	A	T	1: 106,881,757 (GRCm38)	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,869,493 (GRCm38)	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,991,388 (GRCm38)	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,957,723 (GRCm38)	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,490,199 (GRCm38)	D25G	probably benign	Het
Snx9	T	A	17: 5,920,580 (GRCm38)	C399S	probably damaging	Het
Soga1	T	C	2: 157,040,734 (GRCm38)	E466G	probably damaging	Het
Ttbk2	T	C	2: 120,825,262 (GRCm38)		probably benign	Het
Vmn1r1	A	G	1: 182,157,776 (GRCm38)	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,475,502 (GRCm38)	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491 (GRCm38)	P1851L	possibly damaging	Het
Zfp472	A	T	17: 32,977,743 (GRCm38)	D264V	probably damaging	Het

Other mutations in Snrnp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Snrnp40	APN	4	130,360,221 (GRCm38)	missense	probably damaging	0.99
IGL02306:Snrnp40	APN	4	130,365,100 (GRCm38)	missense	probably benign	0.21
skywarp	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0027:Snrnp40	UTSW	4	130,368,273 (GRCm38)	missense	probably damaging	1.00
R0027:Snrnp40	UTSW	4	130,368,273 (GRCm38)	missense	probably damaging	1.00
R0077:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0134:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0211:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0349:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0371:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0372:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0376:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0377:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0400:Snrnp40	UTSW	4	130,362,650 (GRCm38)	missense	probably damaging	1.00
R0442:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0443:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0486:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0488:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0568:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0624:Snrnp40	UTSW	4	130,362,658 (GRCm38)	missense	probably damaging	0.98
R0632:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0650:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R0733:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1161:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1182:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1234:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1236:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1305:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1308:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1333:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1413:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1569:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1616:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1656:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1675:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1759:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1856:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1901:Snrnp40	UTSW	4	130,385,975 (GRCm38)	missense	probably damaging	0.98
R1912:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1930:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R1931:Snrnp40	UTSW	4	130,378,043 (GRCm38)	splice site	probably null
R2435:Snrnp40	UTSW	4	130,384,551 (GRCm38)	missense	probably damaging	1.00
R3722:Snrnp40	UTSW	4	130,368,275 (GRCm38)	missense	possibly damaging	0.76
R4782:Snrnp40	UTSW	4	130,362,756 (GRCm38)	missense	probably damaging	1.00
R4799:Snrnp40	UTSW	4	130,362,756 (GRCm38)	missense	probably damaging	1.00
R5075:Snrnp40	UTSW	4	130,388,582 (GRCm38)	missense	probably benign	0.07
R5104:Snrnp40	UTSW	4	130,365,165 (GRCm38)	missense	possibly damaging	0.78
R5699:Snrnp40	UTSW	4	130,365,165 (GRCm38)	missense	possibly damaging	0.78
R7529:Snrnp40	UTSW	4	130,384,482 (GRCm38)	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130,378,074 (GRCm38)	missense	probably benign	0.00
R8412:Snrnp40	UTSW	4	130,384,523 (GRCm38)	missense	possibly damaging	0.49
R9319:Snrnp40	UTSW	4	130,362,752 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CTGTCCAAGGGATTGTCAGAGAG -3'
(R):5'- ACACATGCCCTGCTTTAGC -3'

Sequencing Primer
(F):5'- GTCCAAGGGATTGTCAGAGAGTTCTG -3'
(R):5'- TCTGAGGATTTCTATGGCACTC -3'

Posted On

2016-09-06