Incidental Mutation 'R8865:Prdm10'
ID 675868
Institutional Source Beutler Lab
Gene Symbol Prdm10
Ensembl Gene ENSMUSG00000042496
Gene Name PR domain containing 10
Synonyms LOC382066, tristanin
MMRRC Submission 068681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8865 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 31191834-31293019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31238693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 195 (L195P)
Ref Sequence ENSEMBL: ENSMUSP00000112588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000117389] [ENSMUST00000215499] [ENSMUST00000215847]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074510
AA Change: L146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: L146P

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: ENSMUST00000117389
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: L195P

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 probably damaging
Transcript: ENSMUST00000215499
AA Change: L177P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215847
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (72/72)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,672,571 (GRCm39) Y606* probably null Het
Adgrb1 A G 15: 74,415,507 (GRCm39) I696V possibly damaging Het
Ass1 A G 2: 31,410,407 (GRCm39) Q406R probably benign Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Ccdc148 T C 2: 58,719,832 (GRCm39) K409R possibly damaging Het
Ccnl1 A T 3: 65,854,269 (GRCm39) S451T probably benign Het
Cdc123 T C 2: 5,800,235 (GRCm39) probably benign Het
Cep192 T C 18: 67,967,703 (GRCm39) V729A probably benign Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Chl1 A G 6: 103,685,822 (GRCm39) K898E probably damaging Het
Chrng T C 1: 87,135,219 (GRCm39) V154A probably damaging Het
Cog1 T G 11: 113,549,324 (GRCm39) M799R probably benign Het
Col4a3 G A 1: 82,647,483 (GRCm39) probably null Het
Coro6 C A 11: 77,359,917 (GRCm39) T366K probably damaging Het
Cwh43 G A 5: 73,598,702 (GRCm39) M640I probably benign Het
Cyp2c55 A G 19: 39,019,878 (GRCm39) E272G probably benign Het
Cyp4f39 A G 17: 32,702,271 (GRCm39) Y256C probably damaging Het
Dbx2 G A 15: 95,530,281 (GRCm39) R229* probably null Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
En1 G T 1: 120,530,729 (GRCm39) probably benign Het
F3 T A 3: 121,523,060 (GRCm39) V90E probably damaging Het
Fam171a1 A G 2: 3,226,940 (GRCm39) K691R probably damaging Het
Foxp2 C T 6: 15,415,093 (GRCm39) A609V unknown Het
Hemgn A T 4: 46,396,682 (GRCm39) S185T possibly damaging Het
Hk1 C T 10: 62,151,294 (GRCm39) D33N probably benign Het
Igfbp1 T A 11: 7,151,929 (GRCm39) V244D probably damaging Het
Insr A T 8: 3,211,358 (GRCm39) D1160E probably damaging Het
Irs1 A T 1: 82,265,830 (GRCm39) Y795* probably null Het
Krtap28-10 T C 1: 83,019,808 (GRCm39) K111E unknown Het
Lbx1 T G 19: 45,223,605 (GRCm39) D21A probably benign Het
Map6 G T 7: 98,918,192 (GRCm39) A322S probably benign Het
Mat1a T C 14: 40,843,788 (GRCm39) Y336H probably damaging Het
Mcf2l A G 8: 12,930,003 (GRCm39) I8V probably benign Het
Med12l T C 3: 58,979,303 (GRCm39) V276A probably benign Het
Mettl17 A G 14: 52,122,308 (GRCm39) probably benign Het
Mllt1 T C 17: 57,207,295 (GRCm39) D183G possibly damaging Het
Msmb T A 14: 31,872,217 (GRCm39) C69* probably null Het
Mterf1a A G 5: 3,941,425 (GRCm39) S148P probably damaging Het
Mybl2 A G 2: 162,922,653 (GRCm39) I583V probably benign Het
Nbr1 T A 11: 101,455,520 (GRCm39) D91E probably benign Het
Notch3 A G 17: 32,341,090 (GRCm39) Y2221H probably benign Het
Npat C A 9: 53,481,940 (GRCm39) T1216N probably benign Het
Or14j6 T C 17: 38,215,115 (GRCm39) L226P probably damaging Het
Or2j3 T A 17: 38,615,872 (GRCm39) H160L probably damaging Het
Or8k35 C A 2: 86,424,744 (GRCm39) V143F possibly damaging Het
Pawr T A 10: 108,218,603 (GRCm39) Y170N probably damaging Het
Pde12 T C 14: 26,390,280 (GRCm39) D143G possibly damaging Het
Phactr2 A G 10: 13,129,476 (GRCm39) I264T probably benign Het
Pip5k1b A G 19: 24,374,422 (GRCm39) L53P probably damaging Het
Pknox1 T C 17: 31,818,520 (GRCm39) I251T probably benign Het
Plcxd1 A T 5: 110,249,841 (GRCm39) probably benign Het
Polr3c C T 3: 96,622,517 (GRCm39) probably benign Het
Pramel4 G C 4: 143,795,052 (GRCm39) G483R probably damaging Het
Prss16 A T 13: 22,187,175 (GRCm39) L465Q possibly damaging Het
Psg25 G T 7: 18,263,519 (GRCm39) H101Q possibly damaging Het
Pstpip2 A G 18: 77,934,108 (GRCm39) D55G possibly damaging Het
Rfc1 A T 5: 65,436,135 (GRCm39) D636E possibly damaging Het
Scarf2 G T 16: 17,620,974 (GRCm39) C214F probably damaging Het
Sirt4 T C 5: 115,620,704 (GRCm39) E156G probably damaging Het
Spag6 C T 2: 18,738,928 (GRCm39) S286L probably benign Het
Stx17 T A 4: 48,183,444 (GRCm39) H267Q unknown Het
Tekt3 T C 11: 62,961,058 (GRCm39) C76R probably benign Het
Tln1 A T 4: 43,538,281 (GRCm39) V1807E possibly damaging Het
Tnfrsf21 A G 17: 43,396,372 (GRCm39) D552G probably damaging Het
Ttn C A 2: 76,560,664 (GRCm39) V29246L possibly damaging Het
Usp43 C A 11: 67,789,788 (GRCm39) C252F probably damaging Het
Vmn2r16 T C 5: 109,487,910 (GRCm39) I261T probably benign Het
Vwa5b1 T C 4: 138,308,530 (GRCm39) E769G probably benign Het
Xrn1 T A 9: 95,873,246 (GRCm39) F670Y probably benign Het
Ypel1 T C 16: 16,915,269 (GRCm39) N113S probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zdhhc14 A T 17: 5,775,570 (GRCm39) Y274F possibly damaging Het
Zeb2 T A 2: 44,886,139 (GRCm39) M973L probably benign Het
Zfp638 T C 6: 83,954,035 (GRCm39) V1380A possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTAGCGTCTTTGTAGGAGTTAAC -3'
(R):5'- AGTGCACTGGTAGAAAGCCC -3'

Sequencing Primer
(F):5'- GGCCTGAAAACTTAGATTTGGG -3'
(R):5'- CTGGTAGAAAGCCCAAGTTACCTTG -3'
Posted On 2021-07-15