Incidental Mutation 'IGL00235:Prdm8'
ID 2406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm8
Ensembl Gene ENSMUSG00000035456
Gene Name PR domain containing 8
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # IGL00235
Quality Score
Status
Chromosome 5
Chromosomal Location 98315241-98335313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98331202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 18 (V18G)
Ref Sequence ENSEMBL: ENSMUSP00000147333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112959] [ENSMUST00000210477]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000057889
Predicted Effect probably damaging
Transcript: ENSMUST00000112959
AA Change: V18G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108583
Gene: ENSMUSG00000035456
AA Change: V18G

DomainStartEndE-ValueType
SET 20 137 1.55e0 SMART
ZnF_C2H2 154 182 2.37e2 SMART
low complexity region 192 219 N/A INTRINSIC
low complexity region 275 291 N/A INTRINSIC
low complexity region 315 332 N/A INTRINSIC
low complexity region 397 427 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
low complexity region 556 570 N/A INTRINSIC
low complexity region 599 621 N/A INTRINSIC
ZnF_C2H2 624 646 9.22e0 SMART
ZnF_C2H2 665 687 1.2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205851
Predicted Effect probably damaging
Transcript: ENSMUST00000210477
AA Change: V18G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature termination of corticopsinal motor neuron axons, absent corpus callosum and hippocampal commissure, excessive scratching, skin lesions, and contraction of hindpaws resulting a handstand phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,073,583 (GRCm39) E454K possibly damaging Het
Agl T C 3: 116,565,132 (GRCm39) H1039R probably benign Het
Akap3 T C 6: 126,842,694 (GRCm39) F438L probably benign Het
Casp1 A T 9: 5,299,872 (GRCm39) probably benign Het
Cnih2 G T 19: 5,148,301 (GRCm39) probably benign Het
Dchs1 G A 7: 105,407,950 (GRCm39) R1961C probably damaging Het
Defb21 G A 2: 152,416,712 (GRCm39) V63I probably benign Het
Elovl6 T A 3: 129,422,025 (GRCm39) N105K probably benign Het
Fam83e A T 7: 45,376,493 (GRCm39) E402V probably benign Het
Fat4 T A 3: 39,036,398 (GRCm39) I3350N probably damaging Het
Gmpr2 C A 14: 55,913,171 (GRCm39) F149L probably damaging Het
Gucy1b2 C A 14: 62,643,694 (GRCm39) V636F probably damaging Het
Hapln1 A C 13: 89,756,261 (GRCm39) Y355S probably benign Het
Hoxb13 G T 11: 96,085,468 (GRCm39) C67F possibly damaging Het
Hspa12b T A 2: 130,976,040 (GRCm39) I14N probably damaging Het
Ighe C A 12: 113,235,135 (GRCm39) V342L unknown Het
Ighv1-49 A T 12: 115,019,076 (GRCm39) S21T possibly damaging Het
Klhl17 A G 4: 156,318,319 (GRCm39) I101T possibly damaging Het
Lrrd1 T G 5: 3,900,573 (GRCm39) L293V possibly damaging Het
Lyrm4 T A 13: 36,276,865 (GRCm39) K44M probably damaging Het
Med15 G T 16: 17,498,590 (GRCm39) P101T probably damaging Het
Mgat4c A T 10: 102,224,581 (GRCm39) H265L probably damaging Het
Mme T A 3: 63,247,465 (GRCm39) I250N possibly damaging Het
Mxra8 C A 4: 155,927,020 (GRCm39) T318N probably benign Het
Nlrp9b G A 7: 19,757,203 (GRCm39) V147I probably benign Het
Npepl1 G T 2: 173,962,341 (GRCm39) V336L probably damaging Het
Or1e23 G A 11: 73,407,236 (GRCm39) S263L possibly damaging Het
Pank2 T C 2: 131,116,089 (GRCm39) I169T possibly damaging Het
Pgap6 T C 17: 26,336,493 (GRCm39) S204P probably damaging Het
Pkhd1l1 A T 15: 44,419,415 (GRCm39) H2960L probably damaging Het
Pnpla8 A G 12: 44,329,852 (GRCm39) R135G probably benign Het
Rhox7b G T X: 36,978,539 (GRCm39) P231T probably damaging Het
Rnf121 A T 7: 101,714,322 (GRCm39) probably benign Het
Skap1 T C 11: 96,380,736 (GRCm39) F45S probably damaging Het
Slc4a5 T A 6: 83,262,881 (GRCm39) L791Q probably damaging Het
Ssh1 T C 5: 114,080,637 (GRCm39) D931G probably damaging Het
Txndc16 T C 14: 45,399,807 (GRCm39) Y382C probably damaging Het
Uhrf2 T C 19: 30,051,346 (GRCm39) F307L probably benign Het
Zfhx2 C A 14: 55,300,714 (GRCm39) A2346S probably benign Het
Other mutations in Prdm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Prdm8 APN 5 98,331,324 (GRCm39) missense possibly damaging 0.93
IGL02676:Prdm8 APN 5 98,334,418 (GRCm39) missense probably damaging 1.00
R0060:Prdm8 UTSW 5 98,333,119 (GRCm39) missense probably benign 0.19
R0063:Prdm8 UTSW 5 98,332,453 (GRCm39) missense probably damaging 0.98
R0063:Prdm8 UTSW 5 98,332,453 (GRCm39) missense probably damaging 0.98
R0630:Prdm8 UTSW 5 98,332,380 (GRCm39) missense probably damaging 1.00
R1099:Prdm8 UTSW 5 98,331,361 (GRCm39) missense probably damaging 0.99
R4373:Prdm8 UTSW 5 98,334,367 (GRCm39) missense probably damaging 1.00
R4643:Prdm8 UTSW 5 98,332,446 (GRCm39) missense possibly damaging 0.61
R4936:Prdm8 UTSW 5 98,332,882 (GRCm39) critical splice acceptor site probably null
R4936:Prdm8 UTSW 5 98,332,881 (GRCm39) critical splice acceptor site probably null
R5033:Prdm8 UTSW 5 98,333,071 (GRCm39) nonsense probably null
R5495:Prdm8 UTSW 5 98,333,165 (GRCm39) missense possibly damaging 0.62
R6307:Prdm8 UTSW 5 98,333,162 (GRCm39) missense possibly damaging 0.84
R6562:Prdm8 UTSW 5 98,331,202 (GRCm39) missense possibly damaging 0.82
R6970:Prdm8 UTSW 5 98,332,471 (GRCm39) missense probably damaging 0.99
R7343:Prdm8 UTSW 5 98,332,375 (GRCm39) missense probably damaging 1.00
R8417:Prdm8 UTSW 5 98,332,390 (GRCm39) missense probably damaging 0.98
R8421:Prdm8 UTSW 5 98,333,822 (GRCm39) missense probably damaging 1.00
R9159:Prdm8 UTSW 5 98,334,175 (GRCm39) missense probably damaging 0.97
R9644:Prdm8 UTSW 5 98,333,638 (GRCm39) missense probably benign
Z1177:Prdm8 UTSW 5 98,334,410 (GRCm39) missense probably damaging 0.99
Z1177:Prdm8 UTSW 5 98,332,491 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09