Incidental Mutation 'R5657:Prpf38a'
ID442374
Institutional Source Beutler Lab
Gene Symbol Prpf38a
Ensembl Gene ENSMUSG00000063800
Gene NamePRP38 pre-mRNA processing factor 38 (yeast) domain containing A
Synonyms
MMRRC Submission 043171-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #R5657 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location108563172-108579336 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108568424 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 219 (D219G)
Ref Sequence ENSEMBL: ENSMUSP00000078207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079213]
Predicted Effect probably damaging
Transcript: ENSMUST00000079213
AA Change: D219G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078207
Gene: ENSMUSG00000063800
AA Change: D219G

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A G 5: 30,894,046 Y533C probably damaging Het
Ahnak T C 19: 9,014,615 V4421A probably damaging Het
Bach1 A G 16: 87,719,285 K238R probably benign Het
Bloc1s6 T A 2: 122,738,657 V12D probably benign Het
Clca3b C A 3: 144,827,383 L629F probably benign Het
Clhc1 A G 11: 29,561,431 I292V probably benign Het
Col27a1 T C 4: 63,225,310 S412P probably damaging Het
Col6a4 A G 9: 106,072,198 I746T probably damaging Het
Cracr2a G A 6: 127,604,007 A49T probably damaging Het
Cyb561d1 A G 3: 108,200,692 I28T possibly damaging Het
Dnah11 T A 12: 117,883,617 M4264L probably damaging Het
Dnajc13 A G 9: 104,228,537 L412S probably damaging Het
Dpf3 T C 12: 83,325,011 N150S probably damaging Het
Epha2 T C 4: 141,323,494 C854R probably damaging Het
Fat2 G T 11: 55,310,681 Y522* probably null Het
Foxm1 A T 6: 128,373,388 S551C possibly damaging Het
Galnt12 T C 4: 47,104,150 V136A possibly damaging Het
Gm6647 T G 5: 13,768,821 noncoding transcript Het
Grin2b T A 6: 135,733,087 I1154F possibly damaging Het
Hmcn1 A G 1: 150,658,562 V2987A probably benign Het
Jade2 A G 11: 51,816,987 S800P probably damaging Het
Naip6 C A 13: 100,300,401 S538I probably benign Het
Olfr393 T C 11: 73,847,540 N195S probably damaging Het
Plekha6 G C 1: 133,272,307 R208P possibly damaging Het
Plod1 T C 4: 147,918,781 E529G possibly damaging Het
Plppr2 T C 9: 21,947,615 C343R probably damaging Het
Ptpra G A 2: 130,504,284 E122K probably benign Het
Rabl2 T C 15: 89,588,213 M38V probably benign Het
Reep1 A G 6: 71,761,374 M39V possibly damaging Het
Rsf1 GC GCGGCGGCGTC 7: 97,579,934 probably benign Het
Slc26a10 T C 10: 127,174,964 probably benign Het
Sun2 C A 15: 79,727,949 E510* probably null Het
Tanc1 A G 2: 59,834,707 probably null Het
Ticam1 TCACACA TCACA 17: 56,270,629 probably null Het
Tor1aip1 G T 1: 156,007,488 H205N probably damaging Het
Trpc6 C T 9: 8,609,807 T92I probably benign Het
Vmn2r100 T A 17: 19,504,916 F36I probably benign Het
Zfp787 T C 7: 6,133,054 Y66C 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
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
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
X0061:Prpf38a UTSW 4 108576998 missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCTAATTCACTGGTGACAAACTAAG -3'
(R):5'- ACCAACCTATGTAGTCAAATCACTG -3'

Sequencing Primer
(F):5'- GCAGCCAGTGGACTTACATACTTAG -3'
(R):5'- CACTGTTGTAAAGTCACTTGAGAG -3'
Posted On2016-11-09