Incidental Mutation 'IGL02901:Prpf38a'
ID363583
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: 0.927) question?
Stock #IGL02901
Quality Score
Status
Chromosome4
Chromosomal Location108563172-108579336 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108568418 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 221 (D221G)
Ref Sequence ENSEMBL: ENSMUSP00000078207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079213]
Predicted Effect probably damaging
Transcript: ENSMUST00000079213
AA Change: D221G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078207
Gene: ENSMUSG00000063800
AA Change: D221G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,561,604 Y189N probably damaging Het
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
BC051665 A T 13: 60,784,718 V51E probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Misp A T 10: 79,826,937 Y396F possibly damaging Het
Nhsl2 T A X: 102,079,243 V884D probably benign Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr120 T A 17: 37,726,420 I132K probably damaging Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 W53R probably damaging Het
Other mutations in Prpf38a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Prpf38a APN 4 108579041 missense possibly damaging 0.67
IGL02327:Prpf38a APN 4 108568410 missense unknown
IGL02407:Prpf38a APN 4 108567639 missense unknown
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
X0061:Prpf38a UTSW 4 108576998 missense probably benign 0.13
Posted On2015-12-18