Incidental Mutation 'R0063:Prdm8'
ID 17125
Institutional Source Beutler Lab
Gene Symbol Prdm8
Ensembl Gene ENSMUSG00000035456
Gene Name PR domain containing 8
Synonyms
MMRRC Submission 038355-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R0063 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 98315241-98335313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98332453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 118 (R118L)
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: R118L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108583
Gene: ENSMUSG00000035456
AA Change: R118L

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: R118L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.4777 question?
Coding Region Coverage
  • 1x: 89.1%
  • 3x: 86.1%
  • 10x: 78.0%
  • 20x: 64.7%
Validation Efficiency 99% (86/87)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik C T 16: 4,678,912 (GRCm39) R245* probably null Het
4930563I02Rik T A 14: 60,333,477 (GRCm39) probably benign Het
Acss1 T C 2: 150,469,212 (GRCm39) T435A probably damaging Het
Aoc2 T A 11: 101,216,897 (GRCm39) S327T probably damaging Het
Arid5a T A 1: 36,357,645 (GRCm39) Y252N probably damaging Het
AU040320 T C 4: 126,733,465 (GRCm39) Y662H probably damaging Het
Bcam C T 7: 19,500,773 (GRCm39) V134I probably benign Het
Btbd16 A T 7: 130,424,896 (GRCm39) T426S probably benign Het
Cap2 T C 13: 46,791,508 (GRCm39) probably benign Het
Capn8 T A 1: 182,429,677 (GRCm39) D299E probably damaging Het
Cdipt G A 7: 126,578,772 (GRCm39) V160I probably benign Het
Cyb5r3 T C 15: 83,046,137 (GRCm39) T60A probably benign Het
Dazl T C 17: 152,705,859 (NCBIm37) T212A probably damaging Het
Dgkb T G 12: 38,654,112 (GRCm39) S744A probably benign Het
Dock2 T A 11: 34,647,111 (GRCm39) probably null Het
Ece2 A G 16: 20,461,067 (GRCm39) T442A probably benign Het
Elapor2 T C 5: 9,490,709 (GRCm39) probably benign Het
Emid1 A T 11: 5,139,704 (GRCm38) probably benign Het
Eml3 C A 19: 8,915,842 (GRCm39) A644D probably damaging Het
Foxp1 A G 6: 98,921,684 (GRCm39) probably benign Het
Ints8 T C 4: 11,252,857 (GRCm39) N75S probably damaging Het
Irs1 T A 1: 82,266,580 (GRCm39) E545D probably damaging Het
Lama3 T C 18: 12,661,762 (GRCm39) probably benign Het
Nat8f2 A T 6: 85,844,815 (GRCm39) S182R possibly damaging Het
Nrcam G T 12: 44,596,811 (GRCm39) V343F possibly damaging Het
Pdk2 T C 11: 94,923,306 (GRCm39) H106R probably benign Het
Pkhd1 G A 1: 20,282,174 (GRCm39) T2889I probably benign Het
Pkhd1l1 T A 15: 44,392,633 (GRCm39) L1656H probably damaging Het
Plxna2 A T 1: 194,327,247 (GRCm39) T394S probably benign Het
Pnpla8 T A 12: 44,329,615 (GRCm39) C56S probably damaging Het
Prkce T C 17: 86,789,539 (GRCm39) probably benign Het
Ptprk T A 10: 28,139,763 (GRCm39) Y163N probably damaging Het
Rbbp8 T A 18: 11,867,614 (GRCm39) probably benign Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Slc2a2 T C 3: 28,771,589 (GRCm39) M173T probably damaging Het
Slc2a8 T A 2: 32,870,011 (GRCm39) probably null Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tmem89 A G 9: 108,743,880 (GRCm39) N60S probably benign Het
Trio G T 15: 27,881,523 (GRCm39) probably benign Het
Tulp2 T C 7: 45,170,284 (GRCm39) probably benign Het
Uggt2 A G 14: 119,244,542 (GRCm39) probably benign Het
Vwa8 A G 14: 79,401,656 (GRCm39) probably benign Het
Xirp2 A G 2: 67,339,427 (GRCm39) D556G probably damaging Het
Xrn1 T C 9: 95,851,588 (GRCm39) L202P probably damaging Het
Zfp354a A T 11: 50,960,398 (GRCm39) H203L probably damaging Het
Other mutations in Prdm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Prdm8 APN 5 98,331,202 (GRCm39) missense probably damaging 1.00
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
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 2013-01-20