Incidental Mutation 'IGL02200:Snrnp40'
ID284165
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 #IGL02200
Quality Score
Status
Chromosome4
Chromosomal Location130360132-130390026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130360221 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 6 (K6E)
Ref Sequence ENSEMBL: ENSMUSP00000101616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105994] [ENSMUST00000134159]
Predicted Effect probably damaging
Transcript: ENSMUST00000105994
AA Change: K6E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: K6E

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 probably benign
Transcript: ENSMUST00000134159
SMART Domains Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772

DomainStartEndE-ValueType
S1 14 86 4.47e-11 SMART
ZnF_C2HC 132 148 4.56e-1 SMART
low complexity region 160 171 N/A INTRINSIC
low complexity region 182 211 N/A INTRINSIC
low complexity region 227 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167964
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,069,014 E207G probably benign Het
Ahi1 T C 10: 20,981,314 probably benign Het
Ankrd26 A T 6: 118,559,341 V97E probably damaging Het
Cadps2 T C 6: 23,385,528 Y736C probably damaging Het
Cdon T C 9: 35,483,109 W884R probably benign Het
Cflar A G 1: 58,752,669 D380G probably damaging Het
Clca3a1 A T 3: 144,751,929 probably benign Het
Clca3b A G 3: 144,841,429 S316P probably damaging Het
Crispld1 T C 1: 17,750,333 probably benign Het
Diaph1 G A 18: 37,890,682 P701L unknown Het
Dip2b T C 15: 100,151,202 L159P possibly damaging Het
Dock1 A G 7: 134,744,271 T181A probably benign Het
Ear1 C T 14: 43,819,252 R53H probably benign Het
Gm1840 A G 8: 5,639,968 noncoding transcript Het
Gm2663 A G 6: 40,996,013 V220A probably benign Het
Grik1 A G 16: 87,940,565 F614L probably damaging Het
Htr2a T A 14: 74,706,165 I395N probably damaging Het
Itsn2 A G 12: 4,636,632 D528G probably damaging Het
Kdr T C 5: 75,950,102 probably benign Het
M6pr A G 6: 122,315,068 M120V probably benign Het
Mettl13 G A 1: 162,538,823 probably benign Het
Mtfmt A G 9: 65,448,781 probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Ogfrl1 C T 1: 23,370,069 V359I probably benign Het
Olfr583 C T 7: 103,051,793 T165I probably benign Het
Ovch2 T C 7: 107,794,823 Y141C probably damaging Het
Pwwp2a A C 11: 43,706,128 I432L possibly damaging Het
Ryr3 C T 2: 112,849,510 V1245M probably damaging Het
Sis T C 3: 72,943,604 H587R probably damaging Het
Snx13 A T 12: 35,086,885 D115V probably damaging Het
Sohlh2 C A 3: 55,190,556 T143K probably damaging Het
Spag4 T C 2: 156,066,597 L55S probably benign Het
Tcrg-C2 T C 13: 19,307,351 probably benign Het
Vmn2r77 T C 7: 86,801,979 S358P probably benign Het
Other mutations in Snrnp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02306:Snrnp40 APN 4 130365100 missense probably benign 0.21
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