Incidental Mutation 'R0306:Prdm10'
ID 35806
Institutional Source Beutler Lab
Gene Symbol Prdm10
Ensembl Gene ENSMUSG00000042496
Gene Name PR domain containing 10
Synonyms LOC382066, tristanin
MMRRC Submission 038517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0306 (G1)
Quality Score 134
Status Validated
Chromosome 9
Chromosomal Location 31191834-31293019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31227520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 42 (Q42K)
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 possibly damaging
Transcript: ENSMUST00000074510
AA Change: Q38K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: Q38K

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: Q42K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: Q42K

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 damaging
Transcript: ENSMUST00000215499
AA Change: Q42K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215847
AA Change: Q42K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.1094 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 94% (61/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l1 T C 6: 48,953,020 (GRCm39) V315A probably damaging Het
BC028528 C T 3: 95,797,132 (GRCm39) probably benign Het
Bspry T C 4: 62,414,394 (GRCm39) F329S probably damaging Het
Cd209a A G 8: 3,795,535 (GRCm39) Y120H probably benign Het
Ces1f T C 8: 94,003,172 (GRCm39) probably benign Het
Cfap52 T C 11: 67,844,896 (GRCm39) N58D probably benign Het
Cfap74 G A 4: 155,549,896 (GRCm39) probably benign Het
Chst8 T C 7: 34,374,723 (GRCm39) E372G probably benign Het
Cplane1 T C 15: 8,209,373 (GRCm39) V270A probably damaging Het
Ddx49 A G 8: 70,747,322 (GRCm39) probably benign Het
Ddx52 G T 11: 83,835,474 (GRCm39) L133F probably benign Het
Defb26 T A 2: 152,349,888 (GRCm39) I131F unknown Het
Dip2c T A 13: 9,654,635 (GRCm39) S719T probably benign Het
Dnmt3a A G 12: 3,916,096 (GRCm39) S94G possibly damaging Het
Dytn G A 1: 63,724,272 (GRCm39) P3S possibly damaging Het
Fmn2 T C 1: 174,437,050 (GRCm39) probably benign Het
Gal3st1 T A 11: 3,948,546 (GRCm39) L251Q probably damaging Het
Gm19684 A T 17: 36,438,300 (GRCm39) probably benign Het
Il15 T A 8: 83,061,083 (GRCm39) probably benign Het
Jag1 C T 2: 136,927,855 (GRCm39) G852D probably damaging Het
Kbtbd4 A G 2: 90,744,530 (GRCm39) probably benign Het
Kdm3b C A 18: 34,937,070 (GRCm39) Q451K probably benign Het
Lrfn2 A T 17: 49,403,283 (GRCm39) I469F probably damaging Het
Mep1a A T 17: 43,813,534 (GRCm39) probably benign Het
Morn5 T C 2: 35,944,986 (GRCm39) F70S probably damaging Het
Nav2 C A 7: 49,195,651 (GRCm39) P1009Q probably benign Het
Noc3l T C 19: 38,796,094 (GRCm39) Y334C probably damaging Het
Nsun4 A T 4: 115,910,019 (GRCm39) Y180* probably null Het
Nup210l T C 3: 90,114,675 (GRCm39) I1750T probably benign Het
Or51s1 A T 7: 102,559,010 (GRCm39) I12N probably benign Het
Or5p53 A T 7: 107,532,907 (GRCm39) Y60F probably damaging Het
Or8u9 T A 2: 86,002,060 (GRCm39) I34F possibly damaging Het
Parp14 A G 16: 35,676,944 (GRCm39) L1008P probably benign Het
Paxbp1 A G 16: 90,819,003 (GRCm39) V759A possibly damaging Het
Prkcsh T C 9: 21,917,822 (GRCm39) probably benign Het
Psmg1 A G 16: 95,788,540 (GRCm39) C138R probably damaging Het
Ptprb T C 10: 116,179,893 (GRCm39) M1437T probably benign Het
Ryr3 A G 2: 112,606,000 (GRCm39) probably null Het
Serpinf1 T C 11: 75,304,761 (GRCm39) Y200C probably damaging Het
Shox2 T C 3: 66,881,167 (GRCm39) H130R probably damaging Het
Slc22a1 A G 17: 12,881,485 (GRCm39) F335L probably benign Het
Slc44a5 A G 3: 153,975,638 (GRCm39) N683S probably damaging Het
Slc9a9 A T 9: 95,019,987 (GRCm39) T519S probably benign Het
Smarca2 T A 19: 26,618,013 (GRCm39) L348Q probably damaging Het
Sorbs1 T C 19: 40,332,855 (GRCm39) D521G possibly damaging Het
Sorbs2 A T 8: 46,248,767 (GRCm39) T593S probably benign Het
Srp19 T C 18: 34,467,629 (GRCm39) probably benign Het
Stk35 T A 2: 129,643,683 (GRCm39) Y222* probably null Het
Syt10 T G 15: 89,711,191 (GRCm39) K114T probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Trpc4ap A G 2: 155,478,180 (GRCm39) V662A probably benign Het
Ttll4 G A 1: 74,735,916 (GRCm39) R1066Q probably benign Het
Tulp2 C T 7: 45,168,000 (GRCm39) probably benign Het
Unc5b C A 10: 60,615,437 (GRCm39) probably benign Het
Vmn1r230 T A 17: 21,066,895 (GRCm39) I28K possibly damaging Het
Vmn2r118 A C 17: 55,915,616 (GRCm39) F445V possibly damaging Het
Zfp142 C T 1: 74,609,341 (GRCm39) E1485K probably damaging Het
Zfp819 C A 7: 43,266,621 (GRCm39) A292E 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
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
Predicted Primers PCR Primer
(F):5'- GGCTCTAGCTCAGCATGGATGAAG -3'
(R):5'- GGTAACAAATTGCCAGCCACCTCAG -3'

Sequencing Primer
(F):5'- CATGGATGAAGGCTTCTTTTCC -3'
(R):5'- GGGGTTCTAACTCATTTCTGCAC -3'
Posted On 2013-05-09