Incidental Mutation 'R6970:Prdm10'
ID 542191
Institutional Source Beutler Lab
Gene Symbol Prdm10
Ensembl Gene ENSMUSG00000042496
Gene Name PR domain containing 10
Synonyms LOC382066, tristanin
MMRRC Submission 045080-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 31191834-31293019 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 31241119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 302 (Y302*)
Ref Sequence ENSEMBL: ENSMUSP00000149699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000117389] [ENSMUST00000215499] [ENSMUST00000215847]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000074510
AA Change: Y253*
SMART Domains Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: Y253*

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 null
Transcript: ENSMUST00000117389
AA Change: Y302*
SMART Domains Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: Y302*

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 null
Transcript: ENSMUST00000215499
AA Change: Y284*
Predicted Effect probably null
Transcript: ENSMUST00000215847
AA Change: Y302*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,036,044 (GRCm39) Y285H possibly damaging Het
Adam17 A G 12: 21,395,669 (GRCm39) S285P probably benign Het
Adcy10 A G 1: 165,384,485 (GRCm39) N1082S probably benign Het
Ahdc1 T A 4: 132,789,656 (GRCm39) L299Q possibly damaging Het
Ambra1 T A 2: 91,602,945 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Atp8a1 A G 5: 67,895,805 (GRCm39) V543A probably damaging Het
BC034090 T A 1: 155,117,185 (GRCm39) D311V probably damaging Het
Blnk G T 19: 40,950,821 (GRCm39) P110Q probably damaging Het
Cc2d2a A G 5: 43,875,927 (GRCm39) E968G probably damaging Het
Ccdc14 A T 16: 34,529,903 (GRCm39) E394V probably damaging Het
Ccdc162 A T 10: 41,491,954 (GRCm39) H1086Q probably benign Het
Ccdc85b T A 19: 5,507,248 (GRCm39) I60F probably damaging Het
Ceacam20 T A 7: 19,723,902 (GRCm39) L562Q probably damaging Het
Cntrl T C 2: 35,008,149 (GRCm39) F188L probably benign Het
Cplane1 T C 15: 8,217,032 (GRCm39) V750A probably benign Het
Dclk1 A T 3: 55,374,022 (GRCm39) probably benign Het
Ddx20 A T 3: 105,587,674 (GRCm39) L434H probably damaging Het
Ddx51 G A 5: 110,804,728 (GRCm39) V547M probably damaging Het
Dnah11 T A 12: 118,072,679 (GRCm39) Q1472L probably benign Het
Dnajb13 T C 7: 100,156,629 (GRCm39) E149G probably damaging Het
Efcab3 A G 11: 104,667,182 (GRCm39) E1422G probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,924 (GRCm39) N3192S probably damaging Het
Fat4 A T 3: 39,050,120 (GRCm39) D3994V probably damaging Het
Fcgr1 C A 3: 96,191,936 (GRCm39) probably null Het
Gm12185 G A 11: 48,798,739 (GRCm39) R585* probably null Het
Gm32687 A G 10: 81,715,304 (GRCm39) H232R probably benign Het
Gm5431 G T 11: 48,779,317 (GRCm39) A535D probably damaging Het
Jarid2 C T 13: 45,056,461 (GRCm39) P556S probably damaging Het
Map3k4 C A 17: 12,467,803 (GRCm39) G1077V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlxip A G 5: 123,583,735 (GRCm39) T433A possibly damaging Het
Ms4a20 A G 19: 11,089,678 (GRCm39) probably null Het
Mus81 G T 19: 5,535,554 (GRCm39) H199Q probably benign Het
Mylk3 G A 8: 86,085,892 (GRCm39) T54M probably damaging Het
Nalcn A G 14: 123,551,506 (GRCm39) F1034L possibly damaging Het
Nfatc1 A C 18: 80,710,228 (GRCm39) S513A probably benign Het
Ninj2 A G 6: 120,175,092 (GRCm39) I88V possibly damaging Het
Nomo1 C T 7: 45,695,391 (GRCm39) P277L probably damaging Het
Nup214 C T 2: 31,941,810 (GRCm39) S571L probably damaging Het
Or10g9b T A 9: 39,918,009 (GRCm39) M79L probably benign Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or9a7 T C 6: 40,521,590 (GRCm39) S108G probably benign Het
Pcdh15 C T 10: 74,338,519 (GRCm39) P1005S probably damaging Het
Pkhd1l1 G A 15: 44,375,070 (GRCm39) A942T possibly damaging Het
Plagl1 T C 10: 13,000,860 (GRCm39) C34R probably damaging Het
Plekha2 T C 8: 25,549,280 (GRCm39) Q168R probably benign Het
Plekha6 G A 1: 133,191,556 (GRCm39) A146T probably benign Het
Plekhm3 T G 1: 64,931,912 (GRCm39) K564T possibly damaging Het
Plpp2 A G 10: 79,366,380 (GRCm39) V26A possibly damaging Het
Prdm8 A G 5: 98,332,471 (GRCm39) E124G probably damaging Het
Prg4 T G 1: 150,331,657 (GRCm39) probably benign Het
Qser1 A G 2: 104,618,475 (GRCm39) V779A probably benign Het
Rbm39 G A 2: 156,009,504 (GRCm39) R123C probably damaging Het
Ric1 C T 19: 29,565,172 (GRCm39) P640S probably damaging Het
Rpl14 G A 9: 120,403,293 (GRCm39) probably benign Het
Rsl1d1 T A 16: 11,011,558 (GRCm39) D382V probably benign Het
Rubcn G T 16: 32,688,514 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Slc26a11 T G 11: 119,247,798 (GRCm39) V41G probably damaging Het
Slc41a2 A G 10: 83,151,960 (GRCm39) F172L possibly damaging Het
Slc4a4 A C 5: 89,327,690 (GRCm39) Y674S probably damaging Het
Spata31e3 A T 13: 50,401,007 (GRCm39) Y440N possibly damaging Het
Strc A C 2: 121,208,495 (GRCm39) M292R probably benign Het
Syde2 A G 3: 145,694,381 (GRCm39) T210A probably benign Het
Tcf7l2 C A 19: 55,743,480 (GRCm39) A97E probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tepsin G A 11: 119,986,190 (GRCm39) T168M probably damaging Het
Tex15 A T 8: 34,047,456 (GRCm39) M178L probably benign Het
Tgfbr2 T C 9: 115,939,119 (GRCm39) N236S probably damaging Het
Tnrc18 A G 5: 142,713,744 (GRCm39) V2531A probably damaging Het
Ttn T G 2: 76,725,767 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,687,000 (GRCm39) D630E probably damaging Het
Ubr4 G A 4: 139,133,839 (GRCm39) W745* probably null Het
Vmn2r115 G A 17: 23,564,989 (GRCm39) G292D probably benign Het
Vmn2r38 T A 7: 9,078,340 (GRCm39) K681* probably null Het
Xrcc6 A G 15: 81,915,375 (GRCm39) K98E probably benign Het
Zfp423 A G 8: 88,530,407 (GRCm39) V13A probably benign Het
Zfp512b A G 2: 181,228,141 (GRCm39) I5T possibly damaging Het
Zmynd8 C T 2: 165,717,670 (GRCm39) E14K 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTCTTTGGTTACAGGTTTCTCTTGA -3'
(R):5'- GGTTCCACCAACAACAGAGTGA -3'

Sequencing Primer
(F):5'- CAGGTTTCTCTTGATAAAGGAGACAG -3'
(R):5'- GACATGCATGGGCTCTATGCATAC -3'
Posted On 2018-11-28