Incidental Mutation 'IGL03278:Prdm4'
ID 415478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm4
Ensembl Gene ENSMUSG00000035529
Gene Name PR domain containing 4
Synonyms SC-1, SC1, 1700031E19Rik, 2810470D21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03278
Quality Score
Status
Chromosome 10
Chromosomal Location 85727828-85752958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85743622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 211 (M211K)
Ref Sequence ENSEMBL: ENSMUSP00000041942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037646] [ENSMUST00000218969] [ENSMUST00000219370] [ENSMUST00000220032]
AlphaFold Q80V63
Predicted Effect probably damaging
Transcript: ENSMUST00000037646
AA Change: M211K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: M211K

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 benign
Transcript: ENSMUST00000218969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219112
Predicted Effect probably benign
Transcript: ENSMUST00000219370
Predicted Effect probably damaging
Transcript: ENSMUST00000220032
AA Change: M211K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,205,599 (GRCm39) probably benign Het
Acss2 A G 2: 155,403,921 (GRCm39) D676G possibly damaging Het
Antxr1 A G 6: 87,181,439 (GRCm39) probably benign Het
Ccdc134 C T 15: 82,015,682 (GRCm39) A54V possibly damaging Het
Ccdc40 A T 11: 119,133,336 (GRCm39) I465F probably damaging Het
Cdk5rap1 A T 2: 154,212,622 (GRCm39) S79T probably benign Het
Col6a6 T C 9: 105,586,651 (GRCm39) E1790G probably benign Het
Cops8 C A 1: 90,532,087 (GRCm39) probably null Het
Dnah7a T C 1: 53,536,124 (GRCm39) T2640A probably benign Het
F2 G A 2: 91,465,527 (GRCm39) A86V probably benign Het
Fhip1b C A 7: 105,034,331 (GRCm39) M433I possibly damaging Het
Gabrb1 T G 5: 72,026,939 (GRCm39) D113E probably damaging Het
Git2 C A 5: 114,883,640 (GRCm39) probably benign Het
Git2 A T 5: 114,883,641 (GRCm39) probably null Het
Gm4847 A T 1: 166,462,605 (GRCm39) I295N probably benign Het
H2-M10.6 C A 17: 37,124,715 (GRCm39) H211N probably damaging Het
Hmgcr A G 13: 96,793,270 (GRCm39) probably benign Het
Larp1 T C 11: 57,934,882 (GRCm39) probably benign Het
Lrguk A G 6: 34,093,381 (GRCm39) E634G possibly damaging Het
Nanog A G 6: 122,688,704 (GRCm39) Y95C probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nfe2l1 C A 11: 96,713,018 (GRCm39) R55L probably benign Het
Or1f19 C T 16: 3,410,971 (GRCm39) A237V possibly damaging Het
Pkmyt1 A G 17: 23,953,221 (GRCm39) E259G probably damaging Het
Pld4 A G 12: 112,733,165 (GRCm39) N247S probably damaging Het
Rab37 A C 11: 115,050,517 (GRCm39) I121L possibly damaging Het
Rabl6 T C 2: 25,473,834 (GRCm39) probably benign Het
Slc34a3 A T 2: 25,122,059 (GRCm39) V154E probably benign Het
Slc38a9 T G 13: 112,826,052 (GRCm39) probably benign Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stk24 T C 14: 121,540,182 (GRCm39) K139R possibly damaging Het
Tacc2 T C 7: 130,335,298 (GRCm39) probably null Het
Tap1 A T 17: 34,410,457 (GRCm39) K378M probably damaging Het
Tfr2 A T 5: 137,569,298 (GRCm39) R10* probably null Het
Trim38 A G 13: 23,974,979 (GRCm39) D306G possibly damaging Het
Ttc6 A T 12: 57,668,812 (GRCm39) K418I probably damaging Het
Ush2a T A 1: 188,581,313 (GRCm39) L3731Q probably damaging Het
Vmn2r89 A T 14: 51,692,557 (GRCm39) Y120F probably damaging Het
Vps35 A T 8: 86,021,590 (GRCm39) probably benign 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
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
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
Posted On 2016-08-02