Incidental Mutation 'R5075:Snrnp40'
ID 386917
Institutional Source Beutler Lab
Gene Symbol Snrnp40
Ensembl Gene ENSMUSG00000074088
Gene Name small nuclear ribonucleoprotein 40 (U5)
Synonyms Wdr57, 0610009C03Rik
MMRRC Submission 042664-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5075 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130253925-130283819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130282375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 311 (Y311H)
Ref Sequence ENSEMBL: ENSMUSP00000101616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105994]
AlphaFold Q6PE01
Predicted Effect probably benign
Transcript: ENSMUST00000105994
AA Change: Y311H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: Y311H

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: ENSMUST00000181560
Meta Mutation Damage Score 0.0962 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (57/57)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,587,456 (GRCm39) F33S probably damaging Het
Atf7ip A G 6: 136,537,232 (GRCm39) D163G probably benign Het
Cep85 C A 4: 133,859,678 (GRCm39) D662Y probably damaging Het
Cntn6 T A 6: 104,809,991 (GRCm39) S558T probably damaging Het
Dnah8 T C 17: 30,958,731 (GRCm39) probably null Het
Dnah8 T A 17: 31,019,505 (GRCm39) N3859K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Ep400 T C 5: 110,833,351 (GRCm39) E1957G unknown Het
Esm1 A G 13: 113,349,892 (GRCm39) Y104C probably damaging Het
Fkbp15 T C 4: 62,239,266 (GRCm39) K613R probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,808,387 (GRCm39) probably benign Het
Hdac4 A G 1: 91,923,842 (GRCm39) S223P probably benign Het
Hypk A G 2: 121,286,111 (GRCm39) probably benign Het
Kpna1 T A 16: 35,829,722 (GRCm39) F70I probably damaging Het
Lrp2 A G 2: 69,296,102 (GRCm39) Y3336H probably benign Het
Mier1 A G 4: 102,996,670 (GRCm39) D99G probably benign Het
Muc4 T C 16: 32,754,794 (GRCm38) probably benign Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or5b121 T A 19: 13,507,637 (GRCm39) M244K probably benign Het
Peg3 A T 7: 6,711,419 (GRCm39) C1268S probably damaging Het
Recql4 G A 15: 76,593,744 (GRCm39) P122L probably damaging Het
Rex2 A T 4: 147,142,151 (GRCm39) Q213L possibly damaging Het
Rnf25 A G 1: 74,634,803 (GRCm39) V73A probably benign Het
Sacm1l A G 9: 123,411,327 (GRCm39) D372G probably benign Het
Selplg T C 5: 113,958,045 (GRCm39) D87G probably benign Het
Sgsh G A 11: 119,237,594 (GRCm39) T340M probably benign Het
Slc4a3 A T 1: 75,534,012 (GRCm39) I1120F probably damaging Het
Spata31e2 T C 1: 26,722,133 (GRCm39) K1016E probably damaging Het
Stard7 A T 2: 127,111,879 (GRCm39) probably benign Het
Stat1 A T 1: 52,161,871 (GRCm39) K40M possibly damaging Het
Sun1 T C 5: 139,212,646 (GRCm39) probably null Het
Tet2 T A 3: 133,192,667 (GRCm39) Q589L probably benign Het
Tmc7 A T 7: 118,151,919 (GRCm39) probably null Het
Tmt1b A G 10: 128,796,549 (GRCm39) F87L probably damaging Het
Unc79 A T 12: 103,041,213 (GRCm39) I749F possibly damaging Het
Ust A G 10: 8,393,988 (GRCm39) F59S probably damaging Het
Wdr81 A T 11: 75,343,307 (GRCm39) D653E probably benign Het
Zfat A G 15: 68,052,079 (GRCm39) S572P probably benign Het
Zmynd15 G C 11: 70,352,946 (GRCm39) E143D probably damaging Het
Zzef1 A G 11: 72,749,170 (GRCm39) E886G probably 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
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
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'- AGCATAATCAGTCATGGGCTG -3'
(R):5'- TACATAACTGACTCCGGCCTG -3'

Sequencing Primer
(F):5'- GCTGTCCTGGAACAAACTCTGTAG -3'
(R):5'- TGCCTCTGTACCCCTAAGG -3'
Posted On 2016-06-06