Incidental Mutation 'R6457:Prdm4'
ID 516536
Institutional Source Beutler Lab
Gene Symbol Prdm4
Ensembl Gene ENSMUSG00000035529
Gene Name PR domain containing 4
Synonyms SC-1, SC1, 1700031E19Rik, 2810470D21Rik
MMRRC Submission 044592-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6457 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 85727828-85752958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85743896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 120 (Y120H)
Ref Sequence ENSEMBL: ENSMUSP00000151931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037646] [ENSMUST00000218969] [ENSMUST00000219370] [ENSMUST00000220032]
AlphaFold Q80V63
Predicted Effect probably damaging
Transcript: ENSMUST00000037646
AA Change: Y120H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: Y120H

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 339 353 N/A INTRINSIC
PDB:3DB5|B 386 543 2e-98 PDB
Blast:SET 408 538 5e-82 BLAST
ZnF_C2H2 548 569 7.77e1 SMART
low complexity region 575 588 N/A INTRINSIC
ZnF_C2H2 593 615 3.78e-1 SMART
ZnF_C2H2 621 643 2.27e-4 SMART
ZnF_C2H2 649 671 8.02e-5 SMART
ZnF_C2H2 677 699 3.63e-3 SMART
ZnF_C2H2 705 727 3.11e-2 SMART
ZnF_C2H2 733 753 1.81e1 SMART
low complexity region 759 780 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218289
Predicted Effect probably damaging
Transcript: ENSMUST00000218969
AA Change: Y120H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219112
Predicted Effect probably benign
Transcript: ENSMUST00000219370
Predicted Effect probably damaging
Transcript: ENSMUST00000220032
AA Change: Y120H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4184 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: This gene encodes a member of the PR/SET family of zinc finger proteins. This protein has been shown to bind DNA in a sequence-specific manner and has been implicated in neural stem cell proliferation and differentiation. Pseudogenes have been identified on chromosomes 14 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for alleles lacking the zinc finger domain or PR/SET domain exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,383 (GRCm39) V524E probably damaging Het
Acer2 T A 4: 86,818,808 (GRCm39) M152K probably damaging Het
Actn3 T C 19: 4,921,876 (GRCm39) D130G probably damaging Het
Ank1 T A 8: 23,577,983 (GRCm39) F211Y probably damaging Het
Ankfn1 C T 11: 89,282,670 (GRCm39) A326T probably benign Het
Ankrd11 G A 8: 123,635,503 (GRCm39) R44C probably damaging Het
Ankrd46 A G 15: 36,484,217 (GRCm39) probably benign Het
Aurkb G A 11: 68,939,172 (GRCm39) E132K possibly damaging Het
Bsdc1 C T 4: 129,359,069 (GRCm39) T9I possibly damaging Het
Card14 C T 11: 119,230,428 (GRCm39) R767* probably null Het
Ccdc82 T A 9: 13,272,745 (GRCm39) F411L possibly damaging Het
Col12a1 C T 9: 79,552,973 (GRCm39) G2106D probably damaging Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cox10 A G 11: 63,855,198 (GRCm39) L361P probably damaging Het
Cox18 A G 5: 90,371,548 (GRCm39) I84T probably benign Het
Dhrs3 T C 4: 144,646,522 (GRCm39) S125P probably damaging Het
Fbxl15 A G 19: 46,317,765 (GRCm39) H149R probably benign Het
Flg2 T A 3: 93,127,789 (GRCm39) S2234T unknown Het
Gtf2e1 A C 16: 37,356,698 (GRCm39) probably null Het
H2-Q7 A T 17: 35,658,655 (GRCm39) S98C probably damaging Het
Hcn2 G T 10: 79,569,607 (GRCm39) E536* probably null Het
Kat6b A T 14: 21,720,748 (GRCm39) H1700L probably damaging Het
Klhl3 C T 13: 58,248,192 (GRCm39) V35I probably benign Het
Krt34 A T 11: 99,930,916 (GRCm39) L162Q probably damaging Het
Ly9 A G 1: 171,416,663 (GRCm39) S644P probably damaging Het
Magi1 A T 6: 93,676,620 (GRCm39) V685E probably damaging Het
Malrd1 A G 2: 15,531,408 (GRCm39) probably benign Het
Malrd1 A T 2: 15,672,740 (GRCm39) H599L probably benign Het
Matn2 T A 15: 34,426,380 (GRCm39) C631S probably damaging Het
Megf8 A T 7: 25,049,120 (GRCm39) D1739V probably damaging Het
Mlf1 G A 3: 67,300,277 (GRCm39) R98Q probably benign Het
Mprip T A 11: 59,649,815 (GRCm39) I1173K possibly damaging Het
Mrc1 A G 2: 14,275,016 (GRCm39) D439G probably damaging Het
Mroh5 A T 15: 73,662,691 (GRCm39) W208R probably damaging Het
Ms4a5 T G 19: 11,256,646 (GRCm39) I84L probably benign Het
Myt1 G A 2: 181,405,218 (GRCm39) probably null Het
Nbea T A 3: 55,907,990 (GRCm39) H1374L probably damaging Het
Nbeal1 T A 1: 60,292,633 (GRCm39) I1095K probably benign Het
Nolc1 A G 19: 46,071,509 (GRCm39) probably benign Het
Nr5a2 A G 1: 136,887,976 (GRCm39) L18P probably benign Het
Nup188 G T 2: 30,212,199 (GRCm39) C562F probably damaging Het
Obscn A G 11: 58,971,597 (GRCm39) V2415A probably damaging Het
Pacsin2 A T 15: 83,263,879 (GRCm39) probably null Het
Pias3 A G 3: 96,606,839 (GRCm39) H34R possibly damaging Het
Ppfia2 T C 10: 106,729,361 (GRCm39) V903A probably damaging Het
Pramel1 T A 4: 143,123,275 (GRCm39) L84Q probably damaging Het
Pramel6 G A 2: 87,339,782 (GRCm39) C182Y probably damaging Het
Prss28 A G 17: 25,530,331 (GRCm39) M212V probably benign Het
Rbp3 G T 14: 33,677,224 (GRCm39) G391* probably null Het
Rc3h2 C T 2: 37,301,151 (GRCm39) probably null Het
Ret A G 6: 118,150,582 (GRCm39) F645L probably benign Het
Saxo5 T C 8: 3,529,268 (GRCm39) L251P probably damaging Het
Sgsm2 A G 11: 74,755,995 (GRCm39) S402P possibly damaging Het
Shc3 T A 13: 51,636,915 (GRCm39) probably null Het
Slc25a16 A G 10: 62,776,938 (GRCm39) N246S probably benign Het
Snrpd1 T A 18: 10,623,694 (GRCm39) H26Q probably benign Het
Thsd1 A G 8: 22,733,363 (GRCm39) T137A probably damaging Het
Tnik A T 3: 28,593,597 (GRCm39) H151L probably damaging Het
Tns1 T A 1: 73,957,209 (GRCm39) K1725N probably damaging Het
Tomm40l T A 1: 171,048,161 (GRCm39) T147S probably damaging Het
Tomm6 G T 17: 47,998,932 (GRCm39) probably benign Het
Trp53 G A 11: 69,480,440 (GRCm39) C272Y probably damaging Het
Trpm7 A T 2: 126,649,214 (GRCm39) V1492E probably benign Het
Tsen2 G A 6: 115,536,592 (GRCm39) R116H probably benign Het
Uvrag A G 7: 98,555,726 (GRCm39) F456S probably damaging Het
Vmn1r86 A T 7: 12,836,279 (GRCm39) M199K possibly damaging Het
Vmn2r4 C T 3: 64,317,378 (GRCm39) C120Y probably damaging Het
Other mutations in Prdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Prdm4 APN 10 85,729,100 (GRCm39) missense probably benign 0.08
IGL02514:Prdm4 APN 10 85,743,781 (GRCm39) missense probably damaging 0.99
IGL02576:Prdm4 APN 10 85,736,801 (GRCm39) missense possibly damaging 0.86
IGL02674:Prdm4 APN 10 85,729,263 (GRCm39) missense probably damaging 0.99
IGL03002:Prdm4 APN 10 85,729,016 (GRCm39) missense probably benign 0.08
IGL03153:Prdm4 APN 10 85,743,860 (GRCm39) missense probably benign
IGL03278:Prdm4 APN 10 85,743,622 (GRCm39) missense probably damaging 0.99
IGL03338:Prdm4 APN 10 85,743,685 (GRCm39) missense possibly damaging 0.90
R0020:Prdm4 UTSW 10 85,743,487 (GRCm39) missense probably benign
R0133:Prdm4 UTSW 10 85,746,085 (GRCm39) critical splice donor site probably null
R0366:Prdm4 UTSW 10 85,743,868 (GRCm39) missense probably damaging 1.00
R0633:Prdm4 UTSW 10 85,743,767 (GRCm39) missense probably damaging 1.00
R1132:Prdm4 UTSW 10 85,735,145 (GRCm39) missense probably damaging 1.00
R1460:Prdm4 UTSW 10 85,743,686 (GRCm39) missense probably benign 0.28
R1477:Prdm4 UTSW 10 85,740,129 (GRCm39) missense probably benign 0.00
R1680:Prdm4 UTSW 10 85,735,087 (GRCm39) missense possibly damaging 0.96
R1772:Prdm4 UTSW 10 85,729,256 (GRCm39) missense probably damaging 0.99
R1983:Prdm4 UTSW 10 85,743,817 (GRCm39) missense probably damaging 1.00
R2136:Prdm4 UTSW 10 85,729,215 (GRCm39) nonsense probably null
R3426:Prdm4 UTSW 10 85,746,153 (GRCm39) missense probably damaging 1.00
R3723:Prdm4 UTSW 10 85,735,145 (GRCm39) missense probably damaging 1.00
R4490:Prdm4 UTSW 10 85,736,763 (GRCm39) missense probably damaging 1.00
R4750:Prdm4 UTSW 10 85,735,085 (GRCm39) missense probably damaging 1.00
R5561:Prdm4 UTSW 10 85,728,987 (GRCm39) makesense probably null
R5601:Prdm4 UTSW 10 85,728,987 (GRCm39) makesense probably null
R5602:Prdm4 UTSW 10 85,728,987 (GRCm39) makesense probably null
R5604:Prdm4 UTSW 10 85,728,987 (GRCm39) makesense probably null
R5972:Prdm4 UTSW 10 85,743,365 (GRCm39) missense probably damaging 1.00
R6272:Prdm4 UTSW 10 85,743,694 (GRCm39) missense possibly damaging 0.82
R6300:Prdm4 UTSW 10 85,746,085 (GRCm39) critical splice donor site probably null
R6605:Prdm4 UTSW 10 85,740,002 (GRCm39) missense probably benign 0.00
R6642:Prdm4 UTSW 10 85,743,682 (GRCm39) missense probably benign 0.00
R7663:Prdm4 UTSW 10 85,735,145 (GRCm39) missense probably damaging 1.00
R9064:Prdm4 UTSW 10 85,737,678 (GRCm39) missense probably damaging 0.98
R9071:Prdm4 UTSW 10 85,729,076 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACTTCGTGGCCATCATTAGG -3'
(R):5'- AGTTCCATAGAGAAACTCAGAATGGC -3'

Sequencing Primer
(F):5'- TCATTAGGATGAAGACTTTGGGCAC -3'
(R):5'- CTCAGAATGGCATATATGTGCTAC -3'
Posted On 2018-05-21