Incidental Mutation 'IGL00485:Prdm10'
ID 4918
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 # IGL00485
Quality Score
Status
Chromosome 9
Chromosomal Location 31191834-31293019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31238842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 196 (I196F)
Ref Sequence ENSEMBL: ENSMUSP00000074104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000117389] [ENSMUST00000215499] [ENSMUST00000215847]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000074510
AA Change: I196F

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: I196F

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 benign
Transcript: ENSMUST00000117389
AA Change: I245F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: I245F

DomainStartEndE-ValueType
coiled coil region 119 150 N/A INTRINSIC
PDB:3IHX|D 182 317 2e-97 PDB
Blast:SET 214 317 2e-25 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136144
Predicted Effect probably benign
Transcript: ENSMUST00000215499
AA Change: I227F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215847
AA Change: I245F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Prdm10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Prdm10 APN 9 31,272,108 (GRCm39) splice site probably benign
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
IGL02068:Prdm10 APN 9 31,248,646 (GRCm39) missense probably damaging 1.00
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 2012-04-20