Incidental Mutation 'IGL02363:Prdm5'
ID290622
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 #IGL02363
Quality Score
Status
Chromosome6
Chromosomal Location65778988-65937010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65794319 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 38 (F38S)
Ref Sequence ENSEMBL: ENSMUSP00000031976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031973] [ENSMUST00000031976] [ENSMUST00000081219] [ENSMUST00000172638]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031973
AA Change: F38S

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913
AA Change: F38S

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 damaging
Transcript: ENSMUST00000031976
AA Change: F38S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
AA Change: F38S

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 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 possibly damaging
Transcript: ENSMUST00000172638
AA Change: F38S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
AA Change: F38S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173538
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,218,437 H1490L possibly damaging Het
Ak8 T C 2: 28,812,898 S425P probably damaging Het
Comt T C 16: 18,411,131 D153G probably benign Het
Exoc6 T C 19: 37,608,954 I601T probably damaging Het
F11 A T 8: 45,241,531 C598S probably damaging Het
Galnt13 G T 2: 55,112,860 D524Y probably damaging Het
Glb1l3 T C 9: 26,853,644 E157G probably damaging Het
Hc T C 2: 35,000,835 H1323R probably benign Het
Hsd3b5 T C 3: 98,630,105 I32V probably benign Het
Il6ra A G 3: 89,871,253 S430P probably benign Het
Lama2 G T 10: 27,366,066 T298K probably damaging Het
Nedd4l T C 18: 65,208,045 probably benign Het
Ntrk3 T C 7: 78,453,337 D405G probably benign Het
Opn5 T C 17: 42,557,491 D371G probably benign Het
Pcdh15 G T 10: 74,317,086 A408S probably damaging Het
Pim3 T C 15: 88,862,913 V54A probably benign Het
Ptgs2 C T 1: 150,105,709 probably null Het
Rnf185 A G 11: 3,418,015 I221T possibly damaging Het
Slc27a2 T C 2: 126,578,950 F318L possibly damaging Het
Spata1 T C 3: 146,487,364 Y124C possibly damaging Het
Tmie G T 9: 110,870,753 probably benign Het
Tph2 T C 10: 115,079,981 K429R probably benign Het
Usp32 A G 11: 85,044,787 Y388H probably benign Het
Vmn2r60 A T 7: 42,195,154 Q647L probably benign Het
Other mutations in Prdm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Prdm5 APN 6 65870390 missense possibly damaging 0.93
IGL02457:Prdm5 APN 6 65881116 missense probably damaging 1.00
IGL03190:Prdm5 APN 6 65856132 splice site probably benign
IGL03239:Prdm5 APN 6 65886078 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
R8270:Prdm5 UTSW 6 65936074 missense probably damaging 1.00
X0017:Prdm5 UTSW 6 65869262 missense possibly damaging 0.94
Posted On2015-04-16