Incidental Mutation 'R0488:Snrnp40'
ID 42401
Institutional Source Beutler Lab
Gene Symbol Snrnp40
Ensembl Gene ENSMUSG00000074088
Gene Name small nuclear ribonucleoprotein 40 (U5)
Synonyms Wdr57, 0610009C03Rik
MMRRC Submission 038687-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0488 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130253925-130283819 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 130271836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105994]
AlphaFold Q6PE01
Predicted Effect probably null
Transcript: ENSMUST00000105994
SMART Domains Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T G 11: 46,029,757 (GRCm39) L734R probably damaging Het
Adgrf1 T C 17: 43,621,302 (GRCm39) I513T probably damaging Het
Adgrl2 A G 3: 148,552,541 (GRCm39) V654A probably damaging Het
Agl A T 3: 116,548,611 (GRCm39) Y1249* probably null Het
Ankar T A 1: 72,697,891 (GRCm39) Q996H probably damaging Het
Aqp12 T C 1: 92,936,378 (GRCm39) Y235H probably damaging Het
Arsb T C 13: 94,077,013 (GRCm39) V460A probably benign Het
Baiap3 A G 17: 25,467,444 (GRCm39) probably null Het
Cd44 T C 2: 102,664,564 (GRCm39) probably benign Het
Clec4b1 T A 6: 123,048,441 (GRCm39) I192N probably damaging Het
Cplane2 A G 4: 140,941,712 (GRCm39) D14G probably benign Het
Cps1 A C 1: 67,187,967 (GRCm39) probably benign Het
Dab2 T C 15: 6,454,135 (GRCm39) L215S probably damaging Het
E2f4 G A 8: 106,025,171 (GRCm39) V84I probably damaging Het
Edem2 T C 2: 155,558,043 (GRCm39) T197A probably damaging Het
Eno2 T A 6: 124,740,837 (GRCm39) M121L probably benign Het
Ephb1 A G 9: 101,841,207 (GRCm39) V757A probably damaging Het
Etv5 T A 16: 22,231,695 (GRCm39) I106F probably damaging Het
Foxj3 T A 4: 119,477,187 (GRCm39) Y298* probably null Het
Gm12185 A G 11: 48,798,666 (GRCm39) L609S probably damaging Het
Gm5884 T C 6: 128,623,031 (GRCm39) noncoding transcript Het
Havcr1 A G 11: 46,643,398 (GRCm39) Y106C probably damaging Het
Jmjd1c A G 10: 67,076,506 (GRCm39) N2110S probably damaging Het
Kif2b T C 11: 91,467,798 (GRCm39) K162E probably benign Het
Micu2 T C 14: 58,169,699 (GRCm39) Y217C probably benign Het
Mink1 G T 11: 70,488,030 (GRCm39) G32C probably damaging Het
Mnat1 T A 12: 73,217,413 (GRCm39) N96K probably damaging Het
Mpp2 G T 11: 101,952,427 (GRCm39) R349S possibly damaging Het
Mrpl13 T A 15: 55,402,544 (GRCm39) I59F probably benign Het
Mybl2 T C 2: 162,914,534 (GRCm39) probably benign Het
Otogl T C 10: 107,639,466 (GRCm39) E1382G probably benign Het
Pclo A G 5: 14,719,313 (GRCm39) E1150G unknown Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Pla2g4a G A 1: 149,747,196 (GRCm39) T322M probably damaging Het
Pramel11 A T 4: 143,621,973 (GRCm39) Y461N probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Ptprg A T 14: 12,220,653 (GRCm38) D455V probably damaging Het
Ptprt T C 2: 161,395,745 (GRCm39) T1162A probably damaging Het
Rad51ap1 T C 6: 126,911,723 (GRCm39) N55D possibly damaging Het
Rc3h2 T C 2: 37,279,600 (GRCm39) E543G probably damaging Het
Rimklb G A 6: 122,437,934 (GRCm39) T103I probably benign Het
Samd4b T C 7: 28,113,662 (GRCm39) Y101C probably damaging Het
Tubgcp5 T A 7: 55,479,086 (GRCm39) S979T probably damaging Het
Vmn2r93 G A 17: 18,546,311 (GRCm39) E728K probably damaging Het
Wdr17 T C 8: 55,146,087 (GRCm39) probably benign Het
Wdr90 T C 17: 26,067,591 (GRCm39) Y1457C probably damaging Het
Wsb1 T C 11: 79,135,326 (GRCm39) D225G probably damaging Het
Xirp2 T C 2: 67,345,165 (GRCm39) S2469P possibly damaging Het
Zeb1 T A 18: 5,772,455 (GRCm39) C915S probably damaging Het
Znfx1 C A 2: 166,884,483 (GRCm39) R923L possibly damaging Het
Other mutations in Snrnp40
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACATGGTCCTCTTTCTTGAACAACCAG -3'
(R):5'- GCATTAAGTGCCAACCTCCTGCAATC -3'

Sequencing Primer
(F):5'- GAAACCAGAAGAGGGAGTCAG -3'
(R):5'- TCCTGCAATCTCAACATTTAAAAAAG -3'
Posted On 2013-05-23