Mutagenetix > Incidental Mutation

Incidental Mutation 'R5104:Snrnp40'

392543

Institutional Source

Beutler Lab

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

Wdr57, 0610009C03Rik

MMRRC Submission

042692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5104 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130253925-130283819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130258958 bp (GRCm39)

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]

AlphaFold

Q6PE01

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,158,121 (GRCm39)	F109L	probably damaging	Het
Ano4	T	A	10: 88,903,974 (GRCm39)	Q241L	possibly damaging	Het
Apof	C	T	10: 128,105,487 (GRCm39)	R214*	probably null	Het
Armh4	A	T	14: 50,010,929 (GRCm39)	D259E	possibly damaging	Het
Atl2	A	T	17: 80,160,046 (GRCm39)	S47T	probably benign	Het
Azgp1	T	G	5: 137,985,815 (GRCm39)	I146S	probably damaging	Het
Bicral	G	A	17: 47,112,182 (GRCm39)	T1006I	probably damaging	Het
Ccdc110	A	T	8: 46,395,729 (GRCm39)	N540I	probably damaging	Het
Ccdc77	T	C	6: 120,325,346 (GRCm39)		probably null	Het
Cxcr5	G	T	9: 44,424,616 (GRCm39)	P347Q	probably benign	Het
Cyp4a14	T	G	4: 115,353,126 (GRCm39)	H62P	probably damaging	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Ehd3	A	G	17: 74,134,442 (GRCm39)	N267S	probably benign	Het
Eno4	A	G	19: 58,933,973 (GRCm39)	Y58C	probably benign	Het
Fat2	A	G	11: 55,169,814 (GRCm39)	Y2982H	possibly damaging	Het
Frmd3	C	A	4: 74,063,315 (GRCm39)	A214D	probably damaging	Het
Gabrg1	A	C	5: 70,931,775 (GRCm39)	S323A	probably damaging	Het
Gbp9	T	C	5: 105,228,007 (GRCm39)	I592V	probably benign	Het
Gje1	G	A	10: 14,592,462 (GRCm39)	Q107*	probably null	Het
Gm29609	T	C	5: 31,311,638 (GRCm39)		probably null	Het
Gpam	A	T	19: 55,082,418 (GRCm39)	F78I	probably benign	Het
Hecw1	T	C	13: 14,515,377 (GRCm39)	R252G	probably damaging	Het
Hsd3b5	T	A	3: 98,526,592 (GRCm39)	S285C	probably damaging	Het
Ighv1-74	T	C	12: 115,766,507 (GRCm39)	K37E	possibly damaging	Het
Igkv8-34	T	C	6: 70,021,138 (GRCm39)	D108G	probably damaging	Het
Il6st	C	G	13: 112,625,182 (GRCm39)	T266S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kit	A	G	5: 75,776,138 (GRCm39)	T307A	probably benign	Het
Kmt2b	G	A	7: 30,269,265 (GRCm39)	R2552C	probably damaging	Het
Krt4	T	A	15: 101,828,758 (GRCm39)	R369W	probably damaging	Het
Larp4	T	A	15: 99,883,964 (GRCm39)	M8K	probably damaging	Het
Lrit3	T	A	3: 129,582,040 (GRCm39)	H528L	possibly damaging	Het
Mia3	A	G	1: 183,119,579 (GRCm39)	L157S	probably damaging	Het
Naa16	A	T	14: 79,622,140 (GRCm39)	Y32*	probably null	Het
Nbea	A	G	3: 55,987,348 (GRCm39)	Y381H	probably damaging	Het
Nelfcd	T	C	2: 174,268,159 (GRCm39)	V475A	probably benign	Het
Noxa1	T	C	2: 24,976,246 (GRCm39)	I347M	probably benign	Het
Or11h4b	T	A	14: 50,918,159 (GRCm39)	K311*	probably null	Het
Or2ag17	A	T	7: 106,389,539 (GRCm39)	F223Y	possibly damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or2y3	A	T	17: 38,393,174 (GRCm39)	S232T	possibly damaging	Het
Pabpc1l	T	A	2: 163,885,507 (GRCm39)	I420K	probably benign	Het
Pi4ka	C	T	16: 17,098,914 (GRCm39)	C1990Y	probably damaging	Het
Pkhd1	T	A	1: 20,655,415 (GRCm39)	Q223L	probably damaging	Het
Pkm	G	T	9: 59,575,964 (GRCm39)		probably null	Het
Proz	A	G	8: 13,116,931 (GRCm39)	D161G	probably damaging	Het
Ptprb	C	A	10: 116,158,364 (GRCm39)	H765Q	probably benign	Het
Relch	T	C	1: 105,658,965 (GRCm39)	V883A	probably benign	Het
Rffl	A	T	11: 82,703,619 (GRCm39)	C101*	probably null	Het
Rfx5	C	T	3: 94,862,451 (GRCm39)	T36I	probably benign	Het
Rnase12	C	A	14: 51,294,361 (GRCm39)	C106F	probably damaging	Het
Samd3	T	C	10: 26,139,686 (GRCm39)	S273P	possibly damaging	Het
Simc1	A	G	13: 54,674,175 (GRCm39)	D841G	probably benign	Het
Slc8a3	T	C	12: 81,260,908 (GRCm39)	E607G	probably null	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Taf15	A	G	11: 83,378,222 (GRCm39)	Y154C	probably damaging	Het
Tgfb3	A	G	12: 86,105,756 (GRCm39)	V333A	possibly damaging	Het
Tiam1	A	G	16: 89,614,929 (GRCm39)	S2P	probably benign	Het
Tmed11	T	C	5: 108,925,142 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,170,257 (GRCm39)	D585G	probably damaging	Het
Trabd2b	T	C	4: 114,264,114 (GRCm39)	S34P	probably benign	Het
Trbv13-2	T	C	6: 41,098,745 (GRCm39)	Y107H	probably damaging	Het
Tuba3a	A	G	6: 125,259,347 (GRCm39)	V115A	probably benign	Het
Tut1	A	G	19: 8,936,698 (GRCm39)	E174G	probably benign	Het
Ubr3	T	A	2: 69,768,600 (GRCm39)	M469K	probably damaging	Het
Vcan	C	T	13: 89,805,591 (GRCm39)		probably benign	Het
Wapl	C	T	14: 34,414,016 (GRCm39)	Q293*	probably null	Het
Wdr24	A	G	17: 26,043,565 (GRCm39)	H129R	probably damaging	Het
Wrn	A	T	8: 33,757,895 (GRCm39)		probably null	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
R4782:Snrnp40	UTSW	4	130,256,549 (GRCm39)	missense	probably damaging	1.00
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
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'- GAACCAGTGTTGTGCCATG -3'
(R):5'- ATGTCTCATGAACGGGCTGC -3'

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

Posted On

2016-06-15