Incidental Mutation 'IGL03338:Prdm4'
ID 417087
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 # IGL03338
Quality Score
Status
Chromosome 10
Chromosomal Location 85727828-85752958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85743685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 190 (M190K)
Ref Sequence ENSEMBL: ENSMUSP00000041942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037646] [ENSMUST00000218969] [ENSMUST00000219370] [ENSMUST00000220032]
AlphaFold Q80V63
Predicted Effect possibly damaging
Transcript: ENSMUST00000037646
AA Change: M190K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
AA Change: M190K

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 possibly damaging
Transcript: ENSMUST00000220032
AA Change: M190K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,744,153 (GRCm39) V260M probably damaging Het
Accsl T A 2: 93,686,092 (GRCm39) H575L probably benign Het
Armc3 A T 2: 19,253,512 (GRCm39) I218F possibly damaging Het
Bora C A 14: 99,310,178 (GRCm39) N502K probably damaging Het
Brd4 T A 17: 32,432,046 (GRCm39) D606V probably damaging Het
Ccdc190 T A 1: 169,757,544 (GRCm39) M1K probably null Het
Ccl25 T C 8: 4,399,898 (GRCm39) probably benign Het
Cep78 G T 19: 15,936,987 (GRCm39) T573K probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 C T 6: 106,632,550 (GRCm39) H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 (GRCm39) E101G probably benign Het
Dnah2 A G 11: 69,387,403 (GRCm39) V941A probably benign Het
Exoc6b A G 6: 84,821,112 (GRCm39) I559T probably damaging Het
Fmr1 T C X: 67,731,942 (GRCm39) probably null Het
Ghr A T 15: 3,377,024 (GRCm39) C66S probably damaging Het
Hook1 C A 4: 95,886,929 (GRCm39) probably benign Het
Igsf1 T C X: 48,876,376 (GRCm39) T73A probably benign Het
Ipo8 T C 6: 148,701,755 (GRCm39) K451R probably benign Het
Irs1 A G 1: 82,266,122 (GRCm39) V698A probably benign Het
Kat2a T C 11: 100,602,301 (GRCm39) D151G probably benign Het
Lyrm1 A T 7: 119,513,469 (GRCm39) Q78L probably benign Het
Madd C T 2: 90,992,507 (GRCm39) G1012E possibly damaging Het
Mboat1 T A 13: 30,320,742 (GRCm39) D31E probably benign Het
Myh8 C A 11: 67,189,172 (GRCm39) A1116D probably damaging Het
Nop2 G A 6: 125,116,695 (GRCm39) probably null Het
Notch1 A G 2: 26,349,971 (GRCm39) S2390P probably benign Het
Or10ag57 T G 2: 87,218,470 (GRCm39) N140K probably benign Het
Or52z14 T A 7: 103,253,615 (GRCm39) C251* probably null Het
Or6c66b A G 10: 129,376,925 (GRCm39) D173G probably damaging Het
Pigg T C 5: 108,467,816 (GRCm39) S272P probably damaging Het
Plg A G 17: 12,637,959 (GRCm39) Y795C probably damaging Het
Polr3e A G 7: 120,536,843 (GRCm39) K335R probably benign Het
Pramel13 T A 4: 144,121,397 (GRCm39) Y209F probably benign Het
Pramel24 T C 4: 143,453,312 (GRCm39) I140T probably benign Het
Pramel28 T C 4: 143,692,411 (GRCm39) I197V probably benign Het
Pramel28 T A 4: 143,692,608 (GRCm39) Q131L probably benign Het
Prex2 T A 1: 11,210,489 (GRCm39) F597L probably benign Het
Ranbp3l A G 15: 9,060,940 (GRCm39) E403G probably damaging Het
Rgmb C T 17: 16,027,565 (GRCm39) A385T possibly damaging Het
Scn4a T A 11: 106,211,671 (GRCm39) I1449F probably damaging Het
Slc17a9 T C 2: 180,382,311 (GRCm39) probably benign Het
Slc26a2 T C 18: 61,331,974 (GRCm39) I486V probably damaging Het
Sntn A T 14: 13,678,991 (GRCm38) D55V probably damaging Het
Snx25 T A 8: 46,498,247 (GRCm39) R595S probably benign Het
Spag11b C T 8: 19,191,426 (GRCm39) T33I probably damaging Het
Sval2 A G 6: 41,841,181 (GRCm39) I81M probably damaging Het
Tab2 A G 10: 7,795,039 (GRCm39) V481A probably damaging Het
Zfp867 G A 11: 59,355,003 (GRCm39) Q109* probably null Het
Zfp935 T C 13: 62,602,247 (GRCm39) T318A 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
IGL03278:Prdm4 APN 10 85,743,622 (GRCm39) missense probably damaging 0.99
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