Incidental Mutation 'R0443:Snrnp40'
ID 39263
Institutional Source Beutler Lab
Gene Symbol Snrnp40
Ensembl Gene ENSMUSG00000074088
Gene Name small nuclear ribonucleoprotein 40 (U5)
Synonyms Wdr57, 0610009C03Rik
MMRRC Submission 038644-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0443 (G1)
Quality Score 225
Status Validated (trace)
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: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b G T 5: 26,053,409 (GRCm39) R246L probably damaging Het
Adam18 T C 8: 25,119,653 (GRCm39) probably null Het
Ankhd1 A G 18: 36,777,652 (GRCm39) S1612G possibly damaging Het
Caskin1 C T 17: 24,724,374 (GRCm39) A1054V probably damaging Het
Casz1 T C 4: 149,033,368 (GRCm39) V1380A possibly damaging Het
Ccn2 T C 10: 24,471,701 (GRCm39) probably benign Het
Cnot6l T G 5: 96,239,604 (GRCm39) probably benign Het
Crat T C 2: 30,293,640 (GRCm39) probably benign Het
Cux2 C T 5: 122,025,500 (GRCm39) R56H possibly damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Dync2h1 G T 9: 7,167,244 (GRCm39) probably null Het
Epg5 T C 18: 77,999,118 (GRCm39) probably benign Het
Ergic3 G A 2: 155,858,707 (GRCm39) V278M probably benign Het
Fam20b A T 1: 156,509,023 (GRCm39) D396E probably benign Het
Gapvd1 A G 2: 34,594,633 (GRCm39) probably benign Het
Golga1 A T 2: 38,908,453 (GRCm39) S749T probably damaging Het
Gsdma2 C T 11: 98,548,514 (GRCm39) T255I probably damaging Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Itgam C T 7: 127,680,806 (GRCm39) A245V probably damaging Het
Kcnk15 A G 2: 163,700,243 (GRCm39) T161A probably benign Het
Map3k19 A T 1: 127,750,152 (GRCm39) N1066K probably benign Het
Ms4a6b A G 19: 11,499,044 (GRCm39) I53V possibly damaging Het
Mtf1 C T 4: 124,718,075 (GRCm39) probably benign Het
Neb T C 2: 52,051,489 (GRCm39) probably null Het
Nop9 A G 14: 55,991,205 (GRCm39) S621G probably benign Het
Or1e19 A G 11: 73,316,581 (GRCm39) V76A probably damaging Het
Or5p60 A G 7: 107,724,023 (GRCm39) V149A probably benign Het
Or9a2 T A 6: 41,748,829 (GRCm39) I135F possibly damaging Het
Pacs1 A T 19: 5,322,611 (GRCm39) Y102* probably null Het
Pcdhb10 A C 18: 37,545,485 (GRCm39) D187A probably damaging Het
Pih1d2 A G 9: 50,532,403 (GRCm39) R170G possibly damaging Het
Pikfyve A G 1: 65,235,865 (GRCm39) H179R probably damaging Het
Pknox1 A G 17: 31,811,193 (GRCm39) S156G probably damaging Het
Prkcz T A 4: 155,353,597 (GRCm39) D250V probably damaging Het
Psg16 T A 7: 16,829,088 (GRCm39) I224N probably benign Het
Ro60 A G 1: 143,641,661 (GRCm39) probably benign Het
Slc25a40 T A 5: 8,497,348 (GRCm39) S229T probably benign Het
Slc43a2 T C 11: 75,435,493 (GRCm39) probably benign Het
Tas2r129 G T 6: 132,928,159 (GRCm39) C32F probably benign Het
Tfap2d C T 1: 19,174,591 (GRCm39) R15C possibly damaging Het
Tonsl T C 15: 76,523,884 (GRCm39) S39G probably benign Het
Trpc2 A G 7: 101,742,727 (GRCm39) probably benign Het
Ttc17 A G 2: 94,208,439 (GRCm39) F144S probably benign Het
Twnk G T 19: 44,996,578 (GRCm39) G337V possibly damaging Het
Uvssa A G 5: 33,546,168 (GRCm39) R180G possibly damaging Het
Vmn1r197 T A 13: 22,512,241 (GRCm39) I54K possibly damaging Het
Vmn1r71 G A 7: 10,482,238 (GRCm39) T84I probably benign Het
Zbtb49 T C 5: 38,358,174 (GRCm39) E693G probably benign 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
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
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