Incidental Mutation 'R1305:Snrnp40'
ID 157770
Institutional Source Beutler Lab
Gene Symbol Snrnp40
Ensembl Gene ENSMUSG00000074088
Gene Name small nuclear ribonucleoprotein 40 (U5)
Synonyms Wdr57, 0610009C03Rik
MMRRC Submission 039371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1305 (G1)
Quality Score 130
Status Not 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: 98.9%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.9%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2 G A 5: 121,887,247 (GRCm39) V306I probably damaging Het
Enc1 T C 13: 97,383,208 (GRCm39) Y573H possibly damaging Het
Gm9869 T C 9: 60,729,168 (GRCm39) probably benign Het
Ifna2 T C 4: 88,601,614 (GRCm39) T135A probably benign Het
Ifngr1 C T 10: 19,482,001 (GRCm39) T197M possibly damaging Het
Kcnj4 A T 15: 79,369,020 (GRCm39) V320E probably damaging Het
Map2 T A 1: 66,464,554 (GRCm39) I1648N probably damaging Het
Map4k1 A T 7: 28,694,890 (GRCm39) M435L probably benign Het
Mark3 T A 12: 111,581,880 (GRCm39) probably null Het
Mex3c T A 18: 73,723,306 (GRCm39) F466L probably benign Het
Msl3l2 T C 10: 55,991,631 (GRCm39) C119R probably damaging Het
Msln T C 17: 25,972,001 (GRCm39) E72G probably benign Het
Nid2 T C 14: 19,818,930 (GRCm39) S475P probably benign Het
Nme8 T A 13: 19,881,077 (GRCm39) N18I possibly damaging Het
Nwd2 G T 5: 63,902,540 (GRCm39) W86L probably damaging Het
Or4p21 A T 2: 88,276,646 (GRCm39) L212* probably null Het
Or7a37 T C 10: 78,805,933 (GRCm39) I150T probably benign Het
Pard3 T A 8: 128,032,891 (GRCm39) S162T possibly damaging Het
Ppm1a C A 12: 72,830,494 (GRCm39) D6E probably damaging Het
Rcor3 C T 1: 191,800,646 (GRCm39) V312I possibly damaging Het
Rgs20 T A 1: 5,091,262 (GRCm39) probably null Het
Slc11a2 C A 15: 100,307,963 (GRCm39) probably null Het
Vmn1r124 C A 7: 20,994,188 (GRCm39) V119F probably benign Het
Zfp827 A G 8: 79,787,523 (GRCm39) T230A possibly damaging Het
Zfp945 T C 17: 23,071,360 (GRCm39) K180E 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
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'- CTAAGTGGGTGCAGGGAATCATA -3'
(R):5'- TAATCTGATCGCTCGTGTCATTG -3'

Sequencing Primer
(F):5'- ATACGTGGGTGCTCTGGAAG -3'
(R):5'- TTGAAGGTCACAGCCAACAC -3'
Posted On 2014-02-18