Incidental Mutation 'IGL02514:Prdm4'
ID296668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm4
Ensembl Gene ENSMUSG00000035529
Gene NamePR domain containing 4
Synonyms2810470D21Rik, SC-1, 1700031E19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02514
Quality Score
Status
Chromosome10
Chromosomal Location85891966-85917142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85907917 bp
ZygosityHeterozygous
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]
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: 138,852,171 C114* probably null Het
4933421I07Rik A G 7: 42,447,557 M110T probably damaging Het
Amer1 A G X: 95,426,511 V667A possibly damaging Het
Casr C T 16: 36,500,325 G487E probably damaging Het
Catsperd G A 17: 56,661,271 G552D probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Celsr2 A G 3: 108,397,510 V2208A probably benign Het
Clca4a G A 3: 144,955,071 S664F probably damaging Het
Ddx23 A T 15: 98,658,318 S40T unknown Het
Dhodh G A 8: 109,606,264 R58* probably null Het
Dhx36 A G 3: 62,500,898 L173S possibly damaging Het
Dnaaf5 C T 5: 139,174,117 probably benign Het
Dnah3 T C 7: 119,966,247 D2546G probably damaging Het
Eef2 T G 10: 81,179,593 I316S probably benign Het
Efcab6 T C 15: 84,032,942 D139G possibly damaging Het
Efcab6 A T 15: 83,871,311 probably benign Het
Eif4g3 T A 4: 138,126,194 I357N possibly damaging Het
Elovl2 G A 13: 41,194,771 T44M probably benign Het
Fam92a T G 4: 12,164,080 probably benign Het
Fbln1 T A 15: 85,244,262 C553* probably null Het
Fip1l1 T C 5: 74,571,152 V310A probably damaging Het
Gast A G 11: 100,336,892 D100G probably benign Het
Gk G A X: 85,713,364 probably benign Het
Gm1330 G A 2: 148,999,385 probably benign Het
Hspg2 C A 4: 137,569,576 T4355K probably benign Het
Ipo7 T C 7: 110,048,828 V639A possibly damaging Het
Lrrc7 T C 3: 158,160,292 M1271V probably damaging Het
Msantd1 T A 5: 34,921,543 S141T probably damaging Het
Myo9b T C 8: 71,291,006 I237T probably damaging Het
Olfr1129 G A 2: 87,575,193 M36I probably benign Het
Olfr1286 A C 2: 111,420,772 Y60D probably damaging Het
Olfr322 T C 11: 58,665,643 F28S probably damaging Het
Olfr532 A T 7: 140,419,594 Y60N probably damaging Het
Pan2 A T 10: 128,310,741 M416L possibly damaging Het
Pank4 T C 4: 154,970,465 F209L probably damaging Het
Pcdhb13 A T 18: 37,442,991 I141L possibly damaging Het
Pik3r2 A G 8: 70,770,592 Y422H probably benign Het
Pramef17 T C 4: 143,993,202 K198E probably benign Het
Prl T G 13: 27,059,394 L14R probably damaging Het
Rabl6 C A 2: 25,608,176 A23S probably damaging Het
Rbm15b T A 9: 106,884,977 H664L probably damaging Het
Rhobtb1 T A 10: 69,289,641 H618Q probably benign Het
Slc15a1 T C 14: 121,487,040 K140R probably damaging Het
Slc6a17 A G 3: 107,495,677 S145P possibly damaging Het
Snx31 T C 15: 36,525,582 T324A probably damaging Het
Spatc1l T C 10: 76,569,656 probably benign Het
Taar7b A G 10: 24,000,984 N349S probably benign Het
Tbx19 T C 1: 165,153,704 I74V probably benign Het
Tmtc2 G A 10: 105,190,099 T836I possibly damaging Het
Vmn2r72 C A 7: 85,738,699 M552I possibly damaging Het
Vsig10l A G 7: 43,463,914 T199A probably benign Het
Washc4 A T 10: 83,570,083 E481V probably damaging Het
Zc3h15 T A 2: 83,653,381 N33K probably damaging Het
Other mutations in Prdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Prdm4 APN 10 85893236 missense probably benign 0.08
IGL02576:Prdm4 APN 10 85900937 missense possibly damaging 0.86
IGL02674:Prdm4 APN 10 85893399 missense probably damaging 0.99
IGL03002:Prdm4 APN 10 85893152 missense probably benign 0.08
IGL03153:Prdm4 APN 10 85907996 missense probably benign
IGL03278:Prdm4 APN 10 85907758 missense probably damaging 0.99
IGL03338:Prdm4 APN 10 85907821 missense possibly damaging 0.90
R0020:Prdm4 UTSW 10 85907623 missense probably benign
R0133:Prdm4 UTSW 10 85910221 critical splice donor site probably null
R0366:Prdm4 UTSW 10 85908004 missense probably damaging 1.00
R0633:Prdm4 UTSW 10 85907903 missense probably damaging 1.00
R1132:Prdm4 UTSW 10 85899281 missense probably damaging 1.00
R1460:Prdm4 UTSW 10 85907822 missense probably benign 0.28
R1477:Prdm4 UTSW 10 85904265 missense probably benign 0.00
R1680:Prdm4 UTSW 10 85899223 missense possibly damaging 0.96
R1772:Prdm4 UTSW 10 85893392 missense probably damaging 0.99
R1983:Prdm4 UTSW 10 85907953 missense probably damaging 1.00
R2136:Prdm4 UTSW 10 85893351 nonsense probably null
R3426:Prdm4 UTSW 10 85910289 missense probably damaging 1.00
R3723:Prdm4 UTSW 10 85899281 missense probably damaging 1.00
R4490:Prdm4 UTSW 10 85900899 missense probably damaging 1.00
R4750:Prdm4 UTSW 10 85899221 missense probably damaging 1.00
R5561:Prdm4 UTSW 10 85893123 makesense probably null
R5601:Prdm4 UTSW 10 85893123 makesense probably null
R5602:Prdm4 UTSW 10 85893123 makesense probably null
R5604:Prdm4 UTSW 10 85893123 makesense probably null
R5972:Prdm4 UTSW 10 85907501 missense probably damaging 1.00
R6272:Prdm4 UTSW 10 85907830 missense possibly damaging 0.82
R6300:Prdm4 UTSW 10 85910221 critical splice donor site probably null
R6457:Prdm4 UTSW 10 85908032 missense probably damaging 1.00
R6605:Prdm4 UTSW 10 85904138 missense probably benign 0.00
R6642:Prdm4 UTSW 10 85907818 missense probably benign 0.00
R7663:Prdm4 UTSW 10 85899281 missense probably damaging 1.00
Posted On2015-04-16