Incidental Mutation 'R3118:Prpf39'
ID 263132
Institutional Source Beutler Lab
Gene Symbol Prpf39
Ensembl Gene ENSMUSG00000035597
Gene Name pre-mRNA processing factor 39
Synonyms Srcs1
MMRRC Submission 040591-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R3118 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 65083107-65110160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65104651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 572 (V572A)
Ref Sequence ENSEMBL: ENSMUSP00000112953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000120580] [ENSMUST00000129956] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000221913] [ENSMUST00000223315]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021332
SMART Domains Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949

DomainStartEndE-ValueType
PDB:2KFV|A 1 73 2e-45 PDB
low complexity region 91 100 N/A INTRINSIC
Pfam:FKBP_C 121 221 3.9e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120580
AA Change: V572A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: V572A

DomainStartEndE-ValueType
HAT 107 139 3.71e-2 SMART
HAT 141 173 4.39e-4 SMART
HAT 181 216 2.07e0 SMART
HAT 218 251 1.36e2 SMART
low complexity region 277 290 N/A INTRINSIC
Blast:HAT 323 363 6e-18 BLAST
HAT 365 397 3.2e-6 SMART
HAT 398 431 3.21e1 SMART
HAT 505 537 3.63e1 SMART
low complexity region 645 664 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129956
SMART Domains Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597

DomainStartEndE-ValueType
Blast:HAT 107 139 7e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220729
Predicted Effect probably benign
Transcript: ENSMUST00000220730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220798
Predicted Effect probably benign
Transcript: ENSMUST00000220983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220957
Predicted Effect probably benign
Transcript: ENSMUST00000221608
Predicted Effect probably benign
Transcript: ENSMUST00000221166
Predicted Effect probably benign
Transcript: ENSMUST00000221913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222684
Predicted Effect probably benign
Transcript: ENSMUST00000223315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223167
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T G 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ccdc125 T C 13: 100,826,827 (GRCm39) V228A possibly damaging Het
Chrna2 A G 14: 66,388,442 (GRCm39) I486V probably damaging Het
Cpxm1 T C 2: 130,235,493 (GRCm39) T500A possibly damaging Het
Crebbp G A 16: 3,927,062 (GRCm39) R628C probably damaging Het
Cxcl1 T A 5: 91,039,454 (GRCm39) probably null Het
Dab1 G A 4: 104,537,266 (GRCm39) probably null Het
Ddx11 T A 17: 66,456,272 (GRCm39) M751K probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Eml5 C T 12: 98,831,753 (GRCm39) V402I probably damaging Het
Fam241b A T 10: 61,944,635 (GRCm39) *121R probably null Het
Fras1 G A 5: 96,919,571 (GRCm39) A3595T probably damaging Het
Gpr149 A G 3: 62,502,443 (GRCm39) V471A probably benign Het
Lemd3 A G 10: 120,783,156 (GRCm39) S557P probably benign Het
Mkrn3 CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA CGGCATTGGCACTGGCATTGGCA 7: 62,068,962 (GRCm39) probably benign Het
Mmp7 T C 9: 7,697,693 (GRCm39) Y243H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pak6 T C 2: 118,520,222 (GRCm39) V71A probably damaging Het
Pira2 T A 7: 3,844,676 (GRCm39) R452* probably null Het
Plxna1 A G 6: 89,333,958 (GRCm39) S224P possibly damaging Het
Prss12 A T 3: 123,298,976 (GRCm39) T583S possibly damaging Het
Rgs10 T C 7: 128,004,955 (GRCm39) E65G probably damaging Het
Rnf19a T A 15: 36,242,045 (GRCm39) K665* probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Tbx15 T C 3: 99,259,470 (GRCm39) I447T probably damaging Het
Tmem135 A G 7: 88,797,005 (GRCm39) S364P probably benign Het
Ugt1a9 T C 1: 87,998,562 (GRCm39) V4A probably benign Het
Zfp595 T C 13: 67,468,963 (GRCm39) I95M probably benign Het
Other mutations in Prpf39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Prpf39 APN 12 65,090,037 (GRCm39) missense probably damaging 0.99
IGL01025:Prpf39 APN 12 65,089,255 (GRCm39) unclassified probably benign
IGL01323:Prpf39 APN 12 65,089,498 (GRCm39) missense possibly damaging 0.70
IGL02346:Prpf39 APN 12 65,104,510 (GRCm39) missense probably benign 0.02
IGL02966:Prpf39 APN 12 65,089,553 (GRCm39) missense probably benign 0.45
IGL03189:Prpf39 APN 12 65,090,076 (GRCm39) nonsense probably null
IGL03357:Prpf39 APN 12 65,108,211 (GRCm39) unclassified probably benign
R0103:Prpf39 UTSW 12 65,102,057 (GRCm39) missense possibly damaging 0.56
R0103:Prpf39 UTSW 12 65,102,057 (GRCm39) missense possibly damaging 0.56
R0328:Prpf39 UTSW 12 65,090,145 (GRCm39) splice site probably benign
R0549:Prpf39 UTSW 12 65,103,030 (GRCm39) missense probably benign 0.05
R0840:Prpf39 UTSW 12 65,094,980 (GRCm39) missense probably benign 0.21
R1248:Prpf39 UTSW 12 65,100,740 (GRCm39) splice site probably benign
R1322:Prpf39 UTSW 12 65,089,436 (GRCm39) missense possibly damaging 0.48
R1481:Prpf39 UTSW 12 65,100,088 (GRCm39) missense probably damaging 1.00
R2209:Prpf39 UTSW 12 65,104,689 (GRCm39) critical splice donor site probably null
R2232:Prpf39 UTSW 12 65,090,786 (GRCm39) nonsense probably null
R2507:Prpf39 UTSW 12 65,104,589 (GRCm39) missense probably benign 0.36
R2508:Prpf39 UTSW 12 65,104,589 (GRCm39) missense probably benign 0.36
R2959:Prpf39 UTSW 12 65,089,297 (GRCm39) missense probably damaging 1.00
R3117:Prpf39 UTSW 12 65,104,651 (GRCm39) missense possibly damaging 0.79
R3980:Prpf39 UTSW 12 65,108,231 (GRCm39) unclassified probably benign
R4407:Prpf39 UTSW 12 65,103,040 (GRCm39) missense probably damaging 1.00
R4620:Prpf39 UTSW 12 65,089,337 (GRCm39) missense probably benign
R4926:Prpf39 UTSW 12 65,090,830 (GRCm39) missense possibly damaging 0.90
R5154:Prpf39 UTSW 12 65,095,051 (GRCm39) missense probably benign 0.29
R6248:Prpf39 UTSW 12 65,089,528 (GRCm39) missense probably damaging 1.00
R6334:Prpf39 UTSW 12 65,089,587 (GRCm39) splice site probably null
R6614:Prpf39 UTSW 12 65,089,337 (GRCm39) missense probably benign
R6749:Prpf39 UTSW 12 65,103,048 (GRCm39) missense possibly damaging 0.94
R6944:Prpf39 UTSW 12 65,089,454 (GRCm39) missense probably benign 0.03
R7023:Prpf39 UTSW 12 65,100,074 (GRCm39) missense possibly damaging 0.94
R7503:Prpf39 UTSW 12 65,100,167 (GRCm39) missense probably benign 0.04
R7532:Prpf39 UTSW 12 65,100,145 (GRCm39) missense probably benign 0.00
R7608:Prpf39 UTSW 12 65,100,220 (GRCm39) missense probably benign 0.41
R8286:Prpf39 UTSW 12 65,103,132 (GRCm39) missense probably benign
R8439:Prpf39 UTSW 12 65,102,036 (GRCm39) missense possibly damaging 0.95
R8787:Prpf39 UTSW 12 65,089,555 (GRCm39) missense possibly damaging 0.95
R9101:Prpf39 UTSW 12 65,090,078 (GRCm39) missense probably damaging 1.00
R9153:Prpf39 UTSW 12 65,106,671 (GRCm39) missense probably damaging 0.99
R9448:Prpf39 UTSW 12 65,108,034 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCGCTATGTATGCACACTGACAAC -3'
(R):5'- AATTACCTCCACATGTTTAGTACAC -3'

Sequencing Primer
(F):5'- TGTATGCACACTGACAACATACACG -3'
(R):5'- ACATGAGTAAGCCTGGTTACCTGC -3'
Posted On 2015-02-05