Incidental Mutation 'IGL02327:Prpf38a'
ID288514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf38a
Ensembl Gene ENSMUSG00000063800
Gene NamePRP38 pre-mRNA processing factor 38 (yeast) domain containing A
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL02327
Quality Score
Status
Chromosome4
Chromosomal Location108563172-108579336 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108568410 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 224 (R224G)
Ref Sequence ENSEMBL: ENSMUSP00000078207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079213]
Predicted Effect unknown
Transcript: ENSMUST00000079213
AA Change: R224G
SMART Domains Protein: ENSMUSP00000078207
Gene: ENSMUSG00000063800
AA Change: R224G

DomainStartEndE-ValueType
Pfam:PRP38 10 175 2.4e-67 PFAM
Pfam:PRP38_assoc 179 262 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132951
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Prpf38a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Prpf38a APN 4 108579041 missense possibly damaging 0.67
IGL02407:Prpf38a APN 4 108567639 missense unknown
IGL02901:Prpf38a APN 4 108568418 missense probably damaging 1.00
IGL03069:Prpf38a APN 4 108575431 missense probably damaging 1.00
R4735:Prpf38a UTSW 4 108579045 missense possibly damaging 0.78
R4965:Prpf38a UTSW 4 108579081 missense probably benign 0.09
R5657:Prpf38a UTSW 4 108568424 missense probably damaging 0.99
R5685:Prpf38a UTSW 4 108570154 critical splice donor site probably null
R6882:Prpf38a UTSW 4 108570168 missense probably benign 0.04
R6923:Prpf38a UTSW 4 108570204 missense possibly damaging 0.68
R7813:Prpf38a UTSW 4 108579080 missense probably damaging 1.00
R8181:Prpf38a UTSW 4 108576998 missense probably benign 0.13
X0061:Prpf38a UTSW 4 108576998 missense probably benign 0.13
Posted On2015-04-16