Incidental Mutation 'IGL02514:Prdm4'
ID 296668
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 # IGL02514
Quality Score
Status
Chromosome 10
Chromosomal Location 85727828-85752958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85743781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 158 (I158N)
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: I158N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: I158N

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: I158N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,909 (GRCm39) C114* probably null Het
4933421I07Rik A G 7: 42,096,981 (GRCm39) M110T probably damaging Het
Amer1 A G X: 94,470,117 (GRCm39) V667A possibly damaging Het
Casr C T 16: 36,320,687 (GRCm39) G487E probably damaging Het
Catsperd G A 17: 56,968,271 (GRCm39) G552D probably damaging Het
Ceacam3 A G 7: 16,896,906 (GRCm39) D624G possibly damaging Het
Celsr2 A G 3: 108,304,826 (GRCm39) V2208A probably benign Het
Cibar1 T G 4: 12,164,080 (GRCm39) probably benign Het
Clca4a G A 3: 144,660,832 (GRCm39) S664F probably damaging Het
Ddx23 A T 15: 98,556,199 (GRCm39) S40T unknown Het
Dhodh G A 8: 110,332,896 (GRCm39) R58* probably null Het
Dhx36 A G 3: 62,408,319 (GRCm39) L173S possibly damaging Het
Dnaaf5 C T 5: 139,159,872 (GRCm39) probably benign Het
Dnah3 T C 7: 119,565,470 (GRCm39) D2546G probably damaging Het
Eef2 T G 10: 81,015,427 (GRCm39) I316S probably benign Het
Efcab6 T C 15: 83,917,143 (GRCm39) D139G possibly damaging Het
Efcab6 A T 15: 83,755,512 (GRCm39) probably benign Het
Eif4g3 T A 4: 137,853,505 (GRCm39) I357N possibly damaging Het
Elovl2 G A 13: 41,348,247 (GRCm39) T44M probably benign Het
Fbln1 T A 15: 85,128,463 (GRCm39) C553* probably null Het
Fip1l1 T C 5: 74,731,813 (GRCm39) V310A probably damaging Het
Gast A G 11: 100,227,718 (GRCm39) D100G probably benign Het
Gk G A X: 84,756,970 (GRCm39) probably benign Het
Gm1330 G A 2: 148,841,305 (GRCm39) probably benign Het
Hspg2 C A 4: 137,296,887 (GRCm39) T4355K probably benign Het
Ipo7 T C 7: 109,648,035 (GRCm39) V639A possibly damaging Het
Lrrc7 T C 3: 157,865,929 (GRCm39) M1271V probably damaging Het
Msantd1 T A 5: 35,078,887 (GRCm39) S141T probably damaging Het
Myo9b T C 8: 71,743,650 (GRCm39) I237T probably damaging Het
Or10ag59 G A 2: 87,405,537 (GRCm39) M36I probably benign Het
Or13a21 A T 7: 139,999,507 (GRCm39) Y60N probably damaging Het
Or2w3 T C 11: 58,556,469 (GRCm39) F28S probably damaging Het
Or4k40 A C 2: 111,251,117 (GRCm39) Y60D probably damaging Het
Pan2 A T 10: 128,146,610 (GRCm39) M416L possibly damaging Het
Pank4 T C 4: 155,054,922 (GRCm39) F209L probably damaging Het
Pcdhb13 A T 18: 37,576,044 (GRCm39) I141L possibly damaging Het
Pik3r2 A G 8: 71,223,236 (GRCm39) Y422H probably benign Het
Pramel14 T C 4: 143,719,772 (GRCm39) K198E probably benign Het
Prl T G 13: 27,243,377 (GRCm39) L14R probably damaging Het
Rabl6 C A 2: 25,498,188 (GRCm39) A23S probably damaging Het
Rbm15b T A 9: 106,762,176 (GRCm39) H664L probably damaging Het
Rhobtb1 T A 10: 69,125,471 (GRCm39) H618Q probably benign Het
Slc15a1 T C 14: 121,724,452 (GRCm39) K140R probably damaging Het
Slc6a17 A G 3: 107,402,993 (GRCm39) S145P possibly damaging Het
Snx31 T C 15: 36,525,728 (GRCm39) T324A probably damaging Het
Spatc1l T C 10: 76,405,490 (GRCm39) probably benign Het
Taar7b A G 10: 23,876,882 (GRCm39) N349S probably benign Het
Tbx19 T C 1: 164,981,273 (GRCm39) I74V probably benign Het
Tmtc2 G A 10: 105,025,960 (GRCm39) T836I possibly damaging Het
Vmn2r72 C A 7: 85,387,907 (GRCm39) M552I possibly damaging Het
Vsig10l A G 7: 43,113,338 (GRCm39) T199A probably benign Het
Washc4 A T 10: 83,405,947 (GRCm39) E481V probably damaging Het
Zc3h15 T A 2: 83,483,725 (GRCm39) N33K probably damaging Het
Other mutations in Prdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Prdm4 APN 10 85,729,100 (GRCm39) missense probably benign 0.08
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
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 2015-04-16