Incidental Mutation 'R3723:Prdm4'
ID 270636
Institutional Source Beutler Lab
Gene Symbol Prdm4
Ensembl Gene ENSMUSG00000035529
Gene Name PR domain containing 4
Synonyms SC-1, SC1, 1700031E19Rik, 2810470D21Rik
MMRRC Submission 040714-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3723 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 85727828-85752958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85735145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 666 (S666P)
Ref Sequence ENSEMBL: ENSMUSP00000151931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037646] [ENSMUST00000219370] [ENSMUST00000220032]
AlphaFold Q80V63
Predicted Effect probably damaging
Transcript: ENSMUST00000037646
AA Change: S659P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: S659P

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: ENSMUST00000218743
Predicted Effect probably benign
Transcript: ENSMUST00000219370
Predicted Effect probably damaging
Transcript: ENSMUST00000220032
AA Change: S666P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3558 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 95% (38/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,994,217 (GRCm39) V5167A possibly damaging Het
Ano5 A G 7: 51,226,276 (GRCm39) Y510C probably damaging Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Apob A T 12: 8,056,327 (GRCm39) Q1570L probably damaging Het
Apob A G 12: 8,061,763 (GRCm39) N3415S possibly damaging Het
Arsk T A 13: 76,214,772 (GRCm39) I361F probably damaging Het
C9 G A 15: 6,512,561 (GRCm39) E228K possibly damaging Het
Celsr2 A G 3: 108,304,731 (GRCm39) probably benign Het
Cfap53 A G 18: 74,492,640 (GRCm39) I455V probably benign Het
Ckap4 A G 10: 84,364,256 (GRCm39) L269P probably damaging Het
Dnah7a T A 1: 53,486,505 (GRCm39) D3352V probably benign Het
Dync2h1 A T 9: 7,041,658 (GRCm39) M3335K probably benign Het
Fam171a1 A G 2: 3,221,412 (GRCm39) probably benign Het
Glis3 A T 19: 28,239,991 (GRCm39) C97* probably null Het
Gm14221 C G 2: 160,410,347 (GRCm39) noncoding transcript Het
Gm8603 A C 17: 13,737,075 (GRCm39) probably null Het
Gm9767 G T 10: 25,954,469 (GRCm39) probably benign Het
Kctd16 A G 18: 40,391,912 (GRCm39) T167A possibly damaging Het
Kif18b A G 11: 102,807,102 (GRCm39) F78L probably damaging Het
Mefv A G 16: 3,526,058 (GRCm39) probably null Het
Mipol1 C A 12: 57,503,878 (GRCm39) L349I probably damaging Het
Myo10 T C 15: 25,803,374 (GRCm39) V1527A probably damaging Het
Naip5 G T 13: 100,359,522 (GRCm39) Y571* probably null Het
Npl A G 1: 153,391,210 (GRCm39) F182L probably benign Het
Pan3 T A 5: 147,440,018 (GRCm39) probably benign Het
Pcdh15 A T 10: 74,481,680 (GRCm39) T342S probably benign Het
Pcdhga1 A G 18: 37,796,045 (GRCm39) T350A possibly damaging Het
Pramel28 T C 4: 143,693,251 (GRCm39) T76A probably benign Het
Rere A G 4: 150,553,252 (GRCm39) E148G probably damaging Het
Scube2 T C 7: 109,407,613 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,087,335 (GRCm39) S1035P possibly damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Supt3 A G 17: 45,305,274 (GRCm39) D108G probably damaging Het
Tnfsf13b A G 8: 10,081,545 (GRCm39) I236V possibly damaging Het
Tns1 T C 1: 73,964,099 (GRCm39) S1511G probably damaging Het
Tpm1 G A 9: 66,939,227 (GRCm39) probably benign Het
Uba6 T C 5: 86,282,906 (GRCm39) D559G probably damaging Het
Vmn1r117 T A 7: 20,617,380 (GRCm39) I223F probably damaging Het
Vmn2r91 G A 17: 18,305,540 (GRCm39) probably null Het
Zfp30 A G 7: 29,492,778 (GRCm39) E344G 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
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
R6457:Prdm4 UTSW 10 85,743,896 (GRCm39) missense probably damaging 1.00
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'- ACTGCTTGGTTTCTCTGGAC -3'
(R):5'- CTGAGTCAGTTCTGCTTGATTC -3'

Sequencing Primer
(F):5'- TCTGGACCCTGGCCTGTAAG -3'
(R):5'- CTTTTGGGCTGTTTCTCCAAATTTAC -3'
Posted On 2015-03-18