Incidental Mutation 'IGL02306:Snrnp40'
ID287611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrnp40
Ensembl Gene ENSMUSG00000074088
Gene Namesmall nuclear ribonucleoprotein 40 (U5)
Synonyms0610009C03Rik, Wdr57
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02306
Quality Score
Status
Chromosome4
Chromosomal Location130360132-130390026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 130365100 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tryptophan at position 100 (C100W)
Ref Sequence ENSEMBL: ENSMUSP00000101616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105994]
Predicted Effect probably benign
Transcript: ENSMUST00000105994
AA Change: C100W

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: C100W

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181161
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,158,395 Y680C probably damaging Het
Abcb11 C T 2: 69,265,457 W846* probably null Het
Adam34 G A 8: 43,650,485 R708C probably benign Het
Adam6a T A 12: 113,545,723 L572Q possibly damaging Het
Aldoart2 A G 12: 55,565,704 Y138C probably damaging Het
Amigo1 T A 3: 108,187,986 F267Y probably benign Het
Car7 A G 8: 104,548,998 Y137C probably damaging Het
Ccar2 A T 14: 70,142,022 M509K probably benign Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cd163l1 T C 7: 140,223,356 C278R probably damaging Het
Cmya5 C T 13: 93,098,019 G187D probably damaging Het
Crot A T 5: 8,968,701 V555E possibly damaging Het
Cstf1 C T 2: 172,372,971 T4I probably benign Het
Cyp2a12 A G 7: 27,032,583 K250E probably damaging Het
Deaf1 T C 7: 141,324,181 probably null Het
Dse C T 10: 34,160,134 E249K probably damaging Het
E4f1 G T 17: 24,446,929 R88S probably damaging Het
Fam160b2 T C 14: 70,588,997 D217G probably benign Het
Fam83a A C 15: 57,995,308 D248A probably damaging Het
Hadhb T A 5: 30,166,749 L66Q probably null Het
Kalrn T C 16: 34,310,527 E440G probably damaging Het
Kif3b A G 2: 153,320,652 Y527C probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Krtap29-1 A T 11: 99,978,266 V263E probably damaging Het
Mms19 A G 19: 41,966,264 L72P probably damaging Het
Mylpf T A 7: 127,213,158 probably benign Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Nedd4l T G 18: 65,172,954 S292R possibly damaging Het
Nlrc3 A C 16: 3,964,824 D240E probably damaging Het
Obscn A T 11: 58,999,671 I7345N unknown Het
Olfr1189 A T 2: 88,592,606 K267N probably benign Het
Ostn A T 16: 27,346,941 S127C probably damaging Het
Patl1 A G 19: 11,942,886 K735E possibly damaging Het
Pde12 A G 14: 26,668,378 L392P possibly damaging Het
Plxdc2 A G 2: 16,660,774 I213V probably benign Het
Plxna4 T A 6: 32,206,124 Y948F probably benign Het
Prlhr A T 19: 60,467,915 V71E probably damaging Het
Prlr C T 15: 10,328,674 P412S probably benign Het
Prmt9 A G 8: 77,560,818 K196R probably benign Het
Rundc3a T A 11: 102,400,938 L387Q probably damaging Het
Ryr3 T C 2: 112,834,114 I1611V probably damaging Het
Ryr3 A G 2: 112,847,399 probably null Het
Sfxn2 T A 19: 46,590,548 M240K probably damaging Het
Skor2 T C 18: 76,862,679 S901P probably benign Het
Smad4 T C 18: 73,662,869 probably null Het
Spink5 T A 18: 43,964,444 D19E probably damaging Het
Sult1d1 T A 5: 87,556,055 probably benign Het
Wdr59 G A 8: 111,492,733 L231F probably damaging Het
Other mutations in Snrnp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02200:Snrnp40 APN 4 130360221 missense probably damaging 0.99
skywarp UTSW 4 130378043 splice site probably null
R0027:Snrnp40 UTSW 4 130368273 missense probably damaging 1.00
R0027:Snrnp40 UTSW 4 130368273 missense probably damaging 1.00
R0077:Snrnp40 UTSW 4 130378043 splice site probably null
R0134:Snrnp40 UTSW 4 130378043 splice site probably null
R0211:Snrnp40 UTSW 4 130378043 splice site probably null
R0349:Snrnp40 UTSW 4 130378043 splice site probably null
R0371:Snrnp40 UTSW 4 130378043 splice site probably null
R0372:Snrnp40 UTSW 4 130378043 splice site probably null
R0376:Snrnp40 UTSW 4 130378043 splice site probably null
R0377:Snrnp40 UTSW 4 130378043 splice site probably null
R0400:Snrnp40 UTSW 4 130362650 missense probably damaging 1.00
R0442:Snrnp40 UTSW 4 130378043 splice site probably null
R0443:Snrnp40 UTSW 4 130378043 splice site probably null
R0486:Snrnp40 UTSW 4 130378043 splice site probably null
R0488:Snrnp40 UTSW 4 130378043 splice site probably null
R0568:Snrnp40 UTSW 4 130378043 splice site probably null
R0624:Snrnp40 UTSW 4 130362658 missense probably damaging 0.98
R0632:Snrnp40 UTSW 4 130378043 splice site probably null
R0650:Snrnp40 UTSW 4 130378043 splice site probably null
R0733:Snrnp40 UTSW 4 130378043 splice site probably null
R1161:Snrnp40 UTSW 4 130378043 splice site probably null
R1182:Snrnp40 UTSW 4 130378043 splice site probably null
R1234:Snrnp40 UTSW 4 130378043 splice site probably null
R1236:Snrnp40 UTSW 4 130378043 splice site probably null
R1305:Snrnp40 UTSW 4 130378043 splice site probably null
R1308:Snrnp40 UTSW 4 130378043 splice site probably null
R1333:Snrnp40 UTSW 4 130378043 splice site probably null
R1413:Snrnp40 UTSW 4 130378043 splice site probably null
R1569:Snrnp40 UTSW 4 130378043 splice site probably null
R1616:Snrnp40 UTSW 4 130378043 splice site probably null
R1656:Snrnp40 UTSW 4 130378043 splice site probably null
R1675:Snrnp40 UTSW 4 130378043 splice site probably null
R1759:Snrnp40 UTSW 4 130378043 splice site probably null
R1856:Snrnp40 UTSW 4 130378043 splice site probably null
R1901:Snrnp40 UTSW 4 130385975 missense probably damaging 0.98
R1912:Snrnp40 UTSW 4 130378043 splice site probably null
R1930:Snrnp40 UTSW 4 130378043 splice site probably null
R1931:Snrnp40 UTSW 4 130378043 splice site probably null
R2435:Snrnp40 UTSW 4 130384551 missense probably damaging 1.00
R3722:Snrnp40 UTSW 4 130368275 missense possibly damaging 0.76
R4782:Snrnp40 UTSW 4 130362756 missense probably damaging 1.00
R4799:Snrnp40 UTSW 4 130362756 missense probably damaging 1.00
R5075:Snrnp40 UTSW 4 130388582 missense probably benign 0.07
R5104:Snrnp40 UTSW 4 130365165 missense possibly damaging 0.78
R5369:Snrnp40 UTSW 4 130362646 missense probably damaging 0.97
R5699:Snrnp40 UTSW 4 130365165 missense possibly damaging 0.78
R7529:Snrnp40 UTSW 4 130384482 missense possibly damaging 0.94
R8264:Snrnp40 UTSW 4 130378074 missense probably benign 0.00
Posted On2015-04-16