Incidental Mutation 'IGL02068:Prdm10'
ID 185721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm10
Ensembl Gene ENSMUSG00000042496
Gene Name PR domain containing 10
Synonyms LOC382066, tristanin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02068
Quality Score
Status
Chromosome 9
Chromosomal Location 31191834-31293019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31248646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 356 (R356Q)
Ref Sequence ENSEMBL: ENSMUSP00000149699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000215499] [ENSMUST00000215847]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074510
AA Change: R307Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: R307Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 111 117 N/A INTRINSIC
PDB:3IHX|D 133 284 1e-104 PDB
Blast:SET 165 277 3e-32 BLAST
ZnF_C2H2 300 322 5.42e-2 SMART
Pfam:Tristanin_u2 325 455 2.4e-49 PFAM
ZnF_C2H2 471 493 7.78e-3 SMART
ZnF_C2H2 501 523 1.95e-3 SMART
ZnF_C2H2 529 551 3.83e-2 SMART
ZnF_C2H2 557 580 8.34e-3 SMART
ZnF_C2H2 585 607 3.21e-4 SMART
ZnF_C2H2 613 636 3.69e-4 SMART
ZnF_C2H2 668 691 8.22e-2 SMART
ZnF_C2H2 801 824 1.25e-1 SMART
low complexity region 904 916 N/A INTRINSIC
low complexity region 956 964 N/A INTRINSIC
low complexity region 988 1007 N/A INTRINSIC
low complexity region 1110 1122 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215499
AA Change: R338Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000215847
AA Change: R356Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,814,558 (GRCm39) I140F probably benign Het
Cfap58 T C 19: 47,974,951 (GRCm39) L704P probably damaging Het
Cnnm2 T C 19: 46,865,827 (GRCm39) V805A possibly damaging Het
Dnah9 T C 11: 65,951,871 (GRCm39) E1876G probably damaging Het
Dock1 A T 7: 134,373,277 (GRCm39) E548V probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Esm1 T G 13: 113,346,630 (GRCm39) F85C probably damaging Het
Fcer1a C T 1: 173,053,071 (GRCm39) G42R probably damaging Het
Fcer1g A T 1: 171,058,760 (GRCm39) Y43N probably damaging Het
Grik1 G T 16: 87,737,539 (GRCm39) T585K possibly damaging Het
Hnf4g T C 3: 3,709,636 (GRCm39) I184T probably benign Het
Hsd11b1 G A 1: 192,904,354 (GRCm39) R282* probably null Het
Lig1 T A 7: 13,026,377 (GRCm39) probably benign Het
Or13l2 T C 3: 97,318,222 (GRCm39) K92E possibly damaging Het
Phip A G 9: 82,827,861 (GRCm39) S184P probably damaging Het
Pkhd1 C T 1: 20,592,971 (GRCm39) G1714D probably damaging Het
Plppr4 A G 3: 117,125,433 (GRCm39) probably benign Het
Rasgrp1 C T 2: 117,131,059 (GRCm39) probably benign Het
Rpap1 C T 2: 119,613,135 (GRCm39) E138K probably benign Het
Sidt2 A C 9: 45,856,962 (GRCm39) probably null Het
Slc28a3 A G 13: 58,706,411 (GRCm39) L610P probably damaging Het
Slc39a10 T C 1: 46,858,599 (GRCm39) probably benign Het
Snx18 G A 13: 113,753,601 (GRCm39) A444V probably damaging Het
Svil A G 18: 5,092,899 (GRCm39) E1459G probably damaging Het
Tbc1d9 T C 8: 83,966,497 (GRCm39) L366P probably damaging Het
Tbk1 A T 10: 121,406,694 (GRCm39) H181Q probably damaging Het
Wrn C A 8: 33,800,777 (GRCm39) G612V probably benign Het
Xdh A G 17: 74,220,945 (GRCm39) Y595H probably damaging Het
Other mutations in Prdm10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Prdm10 APN 9 31,272,108 (GRCm39) splice site probably benign
IGL00485:Prdm10 APN 9 31,238,842 (GRCm39) missense possibly damaging 0.87
IGL00757:Prdm10 APN 9 31,229,842 (GRCm39) missense possibly damaging 0.69
IGL00836:Prdm10 APN 9 31,241,165 (GRCm39) splice site probably benign
IGL01505:Prdm10 APN 9 31,238,578 (GRCm39) missense probably benign
IGL01594:Prdm10 APN 9 31,258,149 (GRCm39) missense probably damaging 1.00
IGL01894:Prdm10 APN 9 31,227,557 (GRCm39) missense probably damaging 1.00
IGL01927:Prdm10 APN 9 31,246,694 (GRCm39) splice site probably benign
IGL02053:Prdm10 APN 9 31,272,144 (GRCm39) missense probably benign 0.00
IGL02295:Prdm10 APN 9 31,273,664 (GRCm39) missense probably benign
IGL02390:Prdm10 APN 9 31,264,685 (GRCm39) missense possibly damaging 0.68
IGL02574:Prdm10 APN 9 31,268,589 (GRCm39) missense probably damaging 1.00
IGL02636:Prdm10 APN 9 31,240,977 (GRCm39) missense possibly damaging 0.68
IGL02883:Prdm10 APN 9 31,238,644 (GRCm39) missense probably damaging 0.99
IGL03057:Prdm10 APN 9 31,260,481 (GRCm39) missense probably damaging 1.00
PIT4142001:Prdm10 UTSW 9 31,237,063 (GRCm39) missense probably benign 0.00
R0089:Prdm10 UTSW 9 31,227,526 (GRCm39) missense probably damaging 1.00
R0149:Prdm10 UTSW 9 31,227,455 (GRCm39) splice site probably benign
R0306:Prdm10 UTSW 9 31,227,520 (GRCm39) missense probably damaging 1.00
R0386:Prdm10 UTSW 9 31,227,596 (GRCm39) missense probably damaging 1.00
R0390:Prdm10 UTSW 9 31,260,564 (GRCm39) critical splice donor site probably null
R1512:Prdm10 UTSW 9 31,248,697 (GRCm39) missense probably damaging 1.00
R1528:Prdm10 UTSW 9 31,268,582 (GRCm39) missense probably damaging 1.00
R2409:Prdm10 UTSW 9 31,260,418 (GRCm39) missense possibly damaging 0.81
R3745:Prdm10 UTSW 9 31,251,703 (GRCm39) missense possibly damaging 0.72
R3929:Prdm10 UTSW 9 31,258,432 (GRCm39) missense probably damaging 1.00
R4295:Prdm10 UTSW 9 31,227,590 (GRCm39) missense possibly damaging 0.94
R4629:Prdm10 UTSW 9 31,248,612 (GRCm39) nonsense probably null
R4660:Prdm10 UTSW 9 31,238,624 (GRCm39) missense probably damaging 1.00
R4758:Prdm10 UTSW 9 31,273,708 (GRCm39) missense probably benign 0.00
R4793:Prdm10 UTSW 9 31,264,701 (GRCm39) missense probably damaging 1.00
R4798:Prdm10 UTSW 9 31,252,569 (GRCm39) missense probably damaging 1.00
R4806:Prdm10 UTSW 9 31,241,237 (GRCm39) makesense probably null
R4865:Prdm10 UTSW 9 31,258,376 (GRCm39) missense probably damaging 1.00
R5068:Prdm10 UTSW 9 31,270,343 (GRCm39) missense probably damaging 0.96
R5093:Prdm10 UTSW 9 31,252,779 (GRCm39) missense probably damaging 1.00
R5162:Prdm10 UTSW 9 31,251,714 (GRCm39) missense possibly damaging 0.90
R5656:Prdm10 UTSW 9 31,264,713 (GRCm39) missense probably benign 0.08
R5855:Prdm10 UTSW 9 31,248,619 (GRCm39) missense probably damaging 1.00
R6242:Prdm10 UTSW 9 31,252,548 (GRCm39) missense possibly damaging 0.67
R6396:Prdm10 UTSW 9 31,229,842 (GRCm39) missense possibly damaging 0.69
R6970:Prdm10 UTSW 9 31,241,119 (GRCm39) nonsense probably null
R7165:Prdm10 UTSW 9 31,227,738 (GRCm39) splice site probably null
R7177:Prdm10 UTSW 9 31,279,003 (GRCm39) missense probably benign
R7201:Prdm10 UTSW 9 31,227,602 (GRCm39) missense possibly damaging 0.87
R7313:Prdm10 UTSW 9 31,268,456 (GRCm39) nonsense probably null
R7337:Prdm10 UTSW 9 31,227,537 (GRCm39) missense probably damaging 1.00
R7511:Prdm10 UTSW 9 31,289,777 (GRCm39) missense probably damaging 1.00
R7711:Prdm10 UTSW 9 31,268,528 (GRCm39) missense probably damaging 1.00
R7855:Prdm10 UTSW 9 31,238,770 (GRCm39) missense probably benign 0.04
R7965:Prdm10 UTSW 9 31,258,302 (GRCm39) missense probably damaging 1.00
R7997:Prdm10 UTSW 9 31,264,721 (GRCm39) missense probably damaging 1.00
R8168:Prdm10 UTSW 9 31,258,263 (GRCm39) missense probably benign 0.00
R8717:Prdm10 UTSW 9 31,252,695 (GRCm39) missense probably benign 0.31
R8865:Prdm10 UTSW 9 31,238,693 (GRCm39) missense probably damaging 1.00
R8880:Prdm10 UTSW 9 31,264,742 (GRCm39) missense probably damaging 1.00
R9022:Prdm10 UTSW 9 31,268,424 (GRCm39) missense probably benign 0.01
R9200:Prdm10 UTSW 9 31,268,438 (GRCm39) missense probably damaging 1.00
R9288:Prdm10 UTSW 9 31,252,674 (GRCm39) missense possibly damaging 0.67
R9607:Prdm10 UTSW 9 31,260,486 (GRCm39) missense probably damaging 1.00
RF004:Prdm10 UTSW 9 31,270,422 (GRCm39) missense probably damaging 1.00
X0064:Prdm10 UTSW 9 31,273,747 (GRCm39) missense probably damaging 1.00
Z1176:Prdm10 UTSW 9 31,227,589 (GRCm39) nonsense probably null
Z1176:Prdm10 UTSW 9 31,227,464 (GRCm39) missense possibly damaging 0.95
Posted On 2014-05-07