Incidental Mutation 'IGL03239:Prdm5'
ID414214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm5
Ensembl Gene ENSMUSG00000029913
Gene NamePR domain containing 5
SynonymsPFM2, 4432417F03Rik, 6530401I24Rik, E130112L17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03239
Quality Score
Status
Chromosome6
Chromosomal Location65778988-65937010 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 65886078 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031973] [ENSMUST00000031976] [ENSMUST00000081219] [ENSMUST00000172638]
Predicted Effect probably benign
Transcript: ENSMUST00000031973
SMART Domains Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
PDB:3EP0|B 4 101 1e-11 PDB
Blast:SET 8 100 4e-64 BLAST
ZnF_C2H2 105 127 3.16e-3 SMART
ZnF_C2H2 133 155 8.81e-2 SMART
ZnF_C2H2 161 183 1.95e-3 SMART
ZnF_C2H2 189 211 6.78e-3 SMART
ZnF_C2H2 217 240 1.2e-3 SMART
ZnF_C2H2 246 268 4.87e-4 SMART
ZnF_C2H2 274 296 2.4e-3 SMART
ZnF_C2H2 302 324 2.43e-4 SMART
ZnF_C2H2 330 352 3.21e-4 SMART
ZnF_C2H2 358 380 1.45e-2 SMART
ZnF_C2H2 387 410 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000031976
SMART Domains Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
SET 8 130 2.01e-4 SMART
ZnF_C2H2 167 190 3.39e-3 SMART
ZnF_C2H2 199 221 1.04e-3 SMART
ZnF_C2H2 231 256 1.26e-2 SMART
ZnF_C2H2 264 286 1.95e-3 SMART
ZnF_C2H2 289 311 3.16e-3 SMART
ZnF_C2H2 317 339 8.81e-2 SMART
ZnF_C2H2 345 367 1.95e-3 SMART
ZnF_C2H2 373 395 6.78e-3 SMART
ZnF_C2H2 401 424 1.2e-3 SMART
ZnF_C2H2 430 452 4.87e-4 SMART
ZnF_C2H2 458 480 2.4e-3 SMART
ZnF_C2H2 486 508 2.43e-4 SMART
ZnF_C2H2 514 536 3.21e-4 SMART
ZnF_C2H2 542 564 1.45e-2 SMART
ZnF_C2H2 571 594 1.43e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000061905
Predicted Effect probably benign
Transcript: ENSMUST00000081219
SMART Domains Protein: ENSMUSP00000079979
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
Blast:SET 8 72 2e-34 BLAST
ZnF_C2H2 80 102 2.4e-3 SMART
ZnF_C2H2 108 130 2.43e-4 SMART
ZnF_C2H2 136 158 3.21e-4 SMART
ZnF_C2H2 164 186 1.45e-2 SMART
ZnF_C2H2 193 216 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172638
SMART Domains Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913

DomainStartEndE-ValueType
SET 8 130 2.01e-4 SMART
ZnF_C2H2 167 190 3.39e-3 SMART
ZnF_C2H2 199 221 1.04e-3 SMART
ZnF_C2H2 231 256 1.26e-2 SMART
ZnF_C2H2 264 286 1.95e-3 SMART
ZnF_C2H2 289 311 3.16e-3 SMART
ZnF_C2H2 317 339 8.81e-2 SMART
ZnF_C2H2 345 367 1.95e-3 SMART
ZnF_C2H2 373 395 6.78e-3 SMART
ZnF_C2H2 401 424 1.2e-3 SMART
ZnF_C2H2 430 452 4.87e-4 SMART
ZnF_C2H2 458 480 2.4e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele display delayed bone ossification with reduced collagen fibril formation, total bone area, bone mineral content and bone mineral density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,976 Y309C probably damaging Het
Arvcf G T 16: 18,397,067 V44L probably damaging Het
Catsperg2 T G 7: 29,697,716 S1121R probably benign Het
Ccdc190 G T 1: 169,933,980 R217L probably benign Het
Chd8 G A 14: 52,227,548 P619S possibly damaging Het
Cyp17a1 A T 19: 46,667,357 W498R probably damaging Het
Dgka A G 10: 128,721,385 probably benign Het
Ep300 A G 15: 81,641,388 D1471G unknown Het
Htr2b A G 1: 86,099,692 F364S probably damaging Het
Kcnv1 A G 15: 45,109,490 probably benign Het
Lrrc37a T C 11: 103,499,407 T1731A probably benign Het
Mylip A G 13: 45,406,625 E179G possibly damaging Het
Olfm3 A G 3: 115,122,594 R392G probably damaging Het
Pbk T A 14: 65,817,218 D266E probably benign Het
Pcdhb13 C A 18: 37,442,835 L89M probably damaging Het
Rab3gap2 A G 1: 185,249,894 D381G probably damaging Het
Sec24d A G 3: 123,336,489 N434D probably benign Het
Tmem246 T C 4: 49,586,034 Y378C probably damaging Het
Usp17la C T 7: 104,860,620 T144I possibly damaging Het
Usp35 T C 7: 97,321,592 T336A possibly damaging Het
Other mutations in Prdm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Prdm5 APN 6 65870390 missense possibly damaging 0.93
IGL02363:Prdm5 APN 6 65794319 missense probably damaging 1.00
IGL02457:Prdm5 APN 6 65881116 missense probably damaging 1.00
IGL03190:Prdm5 APN 6 65856132 splice site probably benign
IGL03377:Prdm5 APN 6 65859473 missense possibly damaging 0.93
R0329:Prdm5 UTSW 6 65862903 splice site probably benign
R0926:Prdm5 UTSW 6 65883547 missense probably damaging 0.99
R1458:Prdm5 UTSW 6 65883601 missense probably damaging 0.99
R1859:Prdm5 UTSW 6 65831279 missense probably benign 0.03
R1956:Prdm5 UTSW 6 65936076 missense probably damaging 1.00
R1996:Prdm5 UTSW 6 65936088 missense probably damaging 1.00
R1997:Prdm5 UTSW 6 65936088 missense probably damaging 1.00
R2019:Prdm5 UTSW 6 65831356 missense probably damaging 0.99
R3082:Prdm5 UTSW 6 65936085 missense probably damaging 1.00
R3819:Prdm5 UTSW 6 65936057 missense possibly damaging 0.92
R4411:Prdm5 UTSW 6 65901787 nonsense probably null
R4981:Prdm5 UTSW 6 65870462 missense probably damaging 0.99
R5077:Prdm5 UTSW 6 65779174 missense probably damaging 0.97
R5089:Prdm5 UTSW 6 65856090 missense probably benign 0.01
R5138:Prdm5 UTSW 6 65856102 nonsense probably null
R5735:Prdm5 UTSW 6 65927990 missense possibly damaging 0.93
R6355:Prdm5 UTSW 6 65883594 missense probably damaging 1.00
R6743:Prdm5 UTSW 6 65883651 missense probably damaging 1.00
R6769:Prdm5 UTSW 6 65862936 missense probably damaging 0.98
R7216:Prdm5 UTSW 6 65927983 nonsense probably null
R7305:Prdm5 UTSW 6 65831260 missense possibly damaging 0.83
R7510:Prdm5 UTSW 6 65927992 missense probably damaging 0.97
X0017:Prdm5 UTSW 6 65869262 missense possibly damaging 0.94
Posted On2016-08-02