Incidental Mutation 'R9514:Prpf38b'
ID 718363
Institutional Source Beutler Lab
Gene Symbol Prpf38b
Ensembl Gene ENSMUSG00000027881
Gene Name PRP38 pre-mRNA processing factor 38 (yeast) domain containing B
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R9514 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108902805-108911727 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108911303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 47 (V47A)
Ref Sequence ENSEMBL: ENSMUSP00000029480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029480] [ENSMUST00000129273] [ENSMUST00000199735]
AlphaFold Q80SY5
Predicted Effect probably benign
Transcript: ENSMUST00000029480
AA Change: V47A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: V47A

DomainStartEndE-ValueType
low complexity region 13 35 N/A INTRINSIC
Pfam:PRP38 48 232 5.4e-59 PFAM
low complexity region 240 253 N/A INTRINSIC
low complexity region 257 291 N/A INTRINSIC
coiled coil region 293 322 N/A INTRINSIC
low complexity region 400 439 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
low complexity region 467 478 N/A INTRINSIC
low complexity region 480 506 N/A INTRINSIC
low complexity region 510 534 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129273
AA Change: V47A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143724
Gene: ENSMUSG00000027881
AA Change: V47A

DomainStartEndE-ValueType
low complexity region 13 35 N/A INTRINSIC
Pfam:PRP38 48 93 2.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199735
AA Change: V47A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142929
Gene: ENSMUSG00000027881
AA Change: V47A

DomainStartEndE-ValueType
low complexity region 13 35 N/A INTRINSIC
Pfam:PRP38 43 150 2e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A G 13: 59,742,992 V338A probably damaging Het
1810065E05Rik T C 11: 58,421,707 S4P probably benign Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 29,247,623 probably benign Het
Acsl6 A G 11: 54,335,054 N307D probably benign Het
Atxn1 A G 13: 45,567,957 V154A probably benign Het
Cacna2d4 T C 6: 119,236,650 L10S probably benign Het
Cd33 A T 7: 43,532,726 H98Q probably benign Het
Cebpz A T 17: 78,932,255 M579K probably benign Het
Cenpk T G 13: 104,234,174 C103G probably benign Het
Cep97 T A 16: 55,905,730 Q670L probably benign Het
Cfap65 C T 1: 74,906,309 probably null Het
Cir1 A G 2: 73,312,437 S18P probably damaging Het
Coprs T C 8: 13,885,081 Y158C probably damaging Het
Creld1 T C 6: 113,492,804 F389S probably damaging Het
Dimt1 T C 13: 106,957,128 I276T possibly damaging Het
Dok1 T C 6: 83,032,991 K46E probably damaging Het
Dsp T A 13: 38,187,805 C911S probably benign Het
Egr3 A G 14: 70,077,529 I29V probably benign Het
Fam186a A G 15: 99,946,885 S493P unknown Het
Fam83a G A 15: 57,986,369 G103D possibly damaging Het
Fat2 T A 11: 55,284,982 Q1635L probably damaging Het
Figla A C 6: 86,020,707 H139P probably benign Het
Fryl T C 5: 73,104,772 K551E probably damaging Het
Galr2 A G 11: 116,283,626 T361A probably benign Het
Gart A T 16: 91,630,708 S467R probably benign Het
Ggps1 T C 13: 14,055,157 K45R probably benign Het
Ghsr G C 3: 27,372,481 V229L possibly damaging Het
Hectd2 A T 19: 36,605,289 H473L possibly damaging Het
Hic2 T C 16: 17,258,429 V374A possibly damaging Het
Hist2h2ab A G 3: 96,220,085 E57G probably damaging Het
Hivep2 T A 10: 14,129,779 I707N probably benign Het
Il17rc T C 6: 113,472,780 S116P probably damaging Het
Krt34 A T 11: 100,038,400 I328N probably damaging Het
Krt79 G A 15: 101,931,853 R303C probably damaging Het
Lama2 T C 10: 27,224,019 E830G probably benign Het
Lamb2 C T 9: 108,480,807 T149I probably damaging Het
Mau2 T C 8: 70,027,503 Y318C probably damaging Het
Mier2 T C 10: 79,541,662 S486G probably benign Het
Mllt10 A G 2: 18,159,511 D284G probably damaging Het
Nbea A T 3: 56,029,945 S748R probably damaging Het
Ncoa6 A G 2: 155,406,213 S1724P probably benign Het
Nipal4 T A 11: 46,162,095 probably null Het
Nlrc4 G C 17: 74,446,741 L216V probably benign Het
Ogfr A G 2: 180,593,624 M164V possibly damaging Het
Olfr1271 G A 2: 90,266,365 Q22* probably null Het
Olfr99 G T 17: 37,280,495 probably benign Het
Pcdha12 G T 18: 37,022,473 W748C probably damaging Het
Pkd1l3 T C 8: 109,669,217 V2083A probably damaging Het
Plin3 C A 17: 56,280,824 G297V probably benign Het
Prex1 C T 2: 166,577,976 R1260Q possibly damaging Het
Ptch1 T C 13: 63,527,257 T851A probably benign Het
Ptk7 T A 17: 46,576,818 I563F possibly damaging Het
Ptprm A G 17: 66,809,471 Y938H probably damaging Het
R3hcc1l G A 19: 42,518,764 probably benign Het
Rapgef6 T C 11: 54,552,858 V89A probably benign Het
Sh2b1 AGCTCAGCCACGGGGACC AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC 7: 126,467,578 probably benign Het
Sh2b1 ACCAGCTC ACCAGCTCAGCCACGGGGGCCAGCTC 7: 126,467,593 probably benign Het
Sh2b1 CTC CTCCGCCACGGGGACCAGTTC 7: 126,467,598 probably benign Het
Slain1 T A 14: 103,695,312 V444E probably damaging Het
Slc10a5 T A 3: 10,335,472 I43F possibly damaging Het
Smarca2 T C 19: 26,682,052 F914S possibly damaging Het
Smarca5 A C 8: 80,702,211 L1003V probably damaging Het
Spata18 A T 5: 73,672,497 I332F Het
Stard9 C G 2: 120,704,083 P3607R probably damaging Het
Tbx19 A G 1: 165,138,977 S443P unknown Het
Tktl2 C G 8: 66,513,188 A466G probably damaging Het
Tm7sf3 C T 6: 146,623,681 D89N possibly damaging Het
Tmem129 A G 5: 33,657,778 V17A probably benign Het
Tom1l2 T C 11: 60,262,660 T164A probably damaging Het
Tor1aip1 T A 1: 156,030,431 D205V probably damaging Het
Tpp2 T A 1: 43,978,488 S751T probably benign Het
Trim11 G T 11: 58,987,651 A251S unknown Het
Trim33 T C 3: 103,331,758 V684A probably benign Het
Triobp C T 15: 78,993,178 R1637C probably damaging Het
Trpm3 A G 19: 22,982,676 N1225S probably benign Het
Uhrf1bp1 A G 17: 27,893,440 D1201G probably damaging Het
Usp21 T C 1: 171,284,930 Y300C probably damaging Het
Usp32 T C 11: 85,022,734 T924A probably damaging Het
Vmn1r198 A T 13: 22,354,845 H167L possibly damaging Het
Vmn2r23 A G 6: 123,712,713 T183A probably benign Het
Zc3h8 T C 2: 128,931,303 Y213C probably damaging Het
Zcchc17 A T 4: 130,338,544 D55E probably benign Het
Zfp408 A T 2: 91,648,023 W26R probably damaging Het
Zfp937 G T 2: 150,238,970 A307S possibly damaging Het
Other mutations in Prpf38b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01944:Prpf38b APN 3 108904675 missense probably benign 0.23
IGL03145:Prpf38b APN 3 108903945 utr 3 prime probably benign
IGL03269:Prpf38b APN 3 108905241 missense probably benign 0.23
R0482:Prpf38b UTSW 3 108905270 missense probably damaging 1.00
R0765:Prpf38b UTSW 3 108911418 missense possibly damaging 0.53
R3724:Prpf38b UTSW 3 108904340 utr 3 prime probably benign
R3934:Prpf38b UTSW 3 108904425 utr 3 prime probably benign
R4367:Prpf38b UTSW 3 108911171 missense probably damaging 1.00
R4649:Prpf38b UTSW 3 108904092 utr 3 prime probably benign
R4651:Prpf38b UTSW 3 108904092 utr 3 prime probably benign
R4653:Prpf38b UTSW 3 108904092 utr 3 prime probably benign
R5073:Prpf38b UTSW 3 108911168 missense probably damaging 1.00
R6795:Prpf38b UTSW 3 108904664 utr 3 prime probably benign
R6979:Prpf38b UTSW 3 108911324 missense probably benign 0.01
R7500:Prpf38b UTSW 3 108905130 missense probably benign 0.33
R8045:Prpf38b UTSW 3 108904034 missense unknown
R8210:Prpf38b UTSW 3 108907832 utr 3 prime probably benign
R9087:Prpf38b UTSW 3 108904341 missense unknown
R9667:Prpf38b UTSW 3 108911543 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TAAAGATCGATTGTGGCGGG -3'
(R):5'- AAGAGATCGAGCTCCTCTGCTG -3'

Sequencing Primer
(F):5'- GGCTCGCCCGGCTATTAAAAC -3'
(R):5'- ACGGCCTTCCATGGAGTAG -3'
Posted On 2022-07-18