Incidental Mutation 'R0312:Prdm14'
ID 25233
Institutional Source Beutler Lab
Gene Symbol Prdm14
Ensembl Gene ENSMUSG00000042414
Gene Name PR domain containing 14
Synonyms
MMRRC Submission 038522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0312 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 13183681-13197387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13189031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 438 (R438W)
Ref Sequence ENSEMBL: ENSMUSP00000044245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047577]
AlphaFold E9Q3T6
Predicted Effect probably damaging
Transcript: ENSMUST00000047577
AA Change: R438W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: R438W

DomainStartEndE-ValueType
low complexity region 120 139 N/A INTRINSIC
SET 244 362 2.8e-11 SMART
low complexity region 373 389 N/A INTRINSIC
ZnF_C2H2 390 410 1.4e-1 SMART
ZnF_C2H2 422 445 5.3e-5 SMART
ZnF_C2H2 451 473 3.2e-7 SMART
ZnF_C2H2 479 501 1.4e-4 SMART
ZnF_C2H2 507 530 8.1e-5 SMART
ZnF_C2H2 536 558 4.6e-4 SMART
Meta Mutation Damage Score 0.4929 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased primordial germ cell numbers, absent germ cells, and sterility in both males and females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G T 12: 118,836,572 (GRCm39) A1113D probably damaging Het
Adcy1 G T 11: 7,099,538 (GRCm39) A673S probably benign Het
Apob T A 12: 8,059,034 (GRCm39) H2505Q probably benign Het
Arhgap12 A G 18: 6,061,982 (GRCm39) probably benign Het
Bcl9 C T 3: 97,116,727 (GRCm39) E656K probably benign Het
Bnc1 C T 7: 81,627,072 (GRCm39) R106H possibly damaging Het
Ccdc54 T C 16: 50,411,165 (GRCm39) K34E possibly damaging Het
Cfap65 G A 1: 74,943,226 (GRCm39) R1600W probably damaging Het
Csmd1 A T 8: 16,034,760 (GRCm39) N2470K probably damaging Het
Cspp1 T C 1: 10,129,054 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,684 (GRCm39) I699N probably damaging Het
Dhx40 G A 11: 86,662,775 (GRCm39) T639I probably damaging Het
Dlg1 A G 16: 31,609,085 (GRCm39) T227A probably benign Het
Dnah10 G A 5: 124,873,433 (GRCm39) probably benign Het
Dnah3 T A 7: 119,644,882 (GRCm39) K1133M probably damaging Het
Dock5 G C 14: 68,033,440 (GRCm39) F976L possibly damaging Het
Evc C T 5: 37,485,885 (GRCm39) C97Y possibly damaging Het
Fbxw7 T C 3: 84,874,876 (GRCm39) probably benign Het
Fggy A C 4: 95,732,422 (GRCm39) D112A probably damaging Het
Fpgs A G 2: 32,574,813 (GRCm39) Y435H probably damaging Het
Fryl T A 5: 73,230,231 (GRCm39) H1642L probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gda T A 19: 21,394,369 (GRCm39) I237F probably damaging Het
Glt1d1 A G 5: 127,768,134 (GRCm39) N247S probably damaging Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gpr31b C T 17: 13,270,498 (GRCm39) V224I probably damaging Het
Hlf G A 11: 90,278,701 (GRCm39) P121L possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ism1 G T 2: 139,520,592 (GRCm39) M1I probably null Het
Kansl1l T C 1: 66,817,265 (GRCm39) N365S probably null Het
Lama1 T C 17: 68,082,846 (GRCm39) L1368P possibly damaging Het
Lima1 A G 15: 99,678,968 (GRCm39) V491A possibly damaging Het
Lrch1 G T 14: 75,185,034 (GRCm39) H23N possibly damaging Het
Lrp1b A G 2: 41,172,183 (GRCm39) V1488A probably damaging Het
Lrp8 T C 4: 107,664,052 (GRCm39) probably benign Het
Lrrc8e A G 8: 4,285,733 (GRCm39) S653G probably benign Het
Mnat1 A G 12: 73,228,558 (GRCm39) T141A possibly damaging Het
Mpeg1 C A 19: 12,439,767 (GRCm39) N408K probably damaging Het
Myo7b T C 18: 32,147,390 (GRCm39) E51G possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naa35 A G 13: 59,757,395 (GRCm39) T257A probably benign Het
Obox5 T A 7: 15,491,485 (GRCm39) H8Q probably damaging Het
Or1j4 A T 2: 36,740,372 (GRCm39) I105L probably benign Het
Or51q1c T C 7: 103,653,232 (GRCm39) V250A probably damaging Het
Or5h26 A T 16: 58,988,202 (GRCm39) F101L probably benign Het
Phldb2 G T 16: 45,609,410 (GRCm39) T732N probably damaging Het
Phyhip G T 14: 70,704,410 (GRCm39) A210S possibly damaging Het
Pik3r4 A G 9: 105,563,409 (GRCm39) D1262G probably damaging Het
Pip G A 6: 41,826,798 (GRCm39) E48K possibly damaging Het
Plk4 C T 3: 40,767,982 (GRCm39) L74F probably damaging Het
Rab19 G A 6: 39,361,023 (GRCm39) R57H probably benign Het
Rtl1 G T 12: 109,556,661 (GRCm39) P1726Q probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skint6 A T 4: 112,666,297 (GRCm39) V1176D possibly damaging Het
Slc12a1 A G 2: 125,067,948 (GRCm39) I1012V probably damaging Het
Slc1a3 C T 15: 8,665,721 (GRCm39) M509I probably benign Het
Spata18 G A 5: 73,824,224 (GRCm39) G35E probably benign Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Sspo C T 6: 48,432,335 (GRCm39) P801L possibly damaging Het
Ugt2b37 C T 5: 87,398,524 (GRCm39) G304D probably damaging Het
Vmn2r25 A T 6: 123,805,539 (GRCm39) probably benign Het
Xrcc6 C A 15: 81,911,423 (GRCm39) probably null Het
Other mutations in Prdm14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02149:Prdm14 APN 1 13,195,663 (GRCm39) missense probably benign 0.07
R0099:Prdm14 UTSW 1 13,189,169 (GRCm39) missense probably damaging 0.96
R0243:Prdm14 UTSW 1 13,192,672 (GRCm39) missense probably damaging 1.00
R0576:Prdm14 UTSW 1 13,195,949 (GRCm39) missense possibly damaging 0.87
R0781:Prdm14 UTSW 1 13,184,585 (GRCm39) missense probably damaging 0.99
R0791:Prdm14 UTSW 1 13,195,968 (GRCm39) missense probably benign 0.30
R0792:Prdm14 UTSW 1 13,195,968 (GRCm39) missense probably benign 0.30
R0855:Prdm14 UTSW 1 13,195,761 (GRCm39) missense probably benign 0.00
R0905:Prdm14 UTSW 1 13,195,662 (GRCm39) missense probably benign 0.00
R1467:Prdm14 UTSW 1 13,194,756 (GRCm39) splice site probably benign
R1747:Prdm14 UTSW 1 13,192,627 (GRCm39) missense possibly damaging 0.83
R1771:Prdm14 UTSW 1 13,189,082 (GRCm39) missense probably damaging 1.00
R2073:Prdm14 UTSW 1 13,195,954 (GRCm39) missense possibly damaging 0.95
R2170:Prdm14 UTSW 1 13,192,684 (GRCm39) missense probably damaging 1.00
R2432:Prdm14 UTSW 1 13,195,857 (GRCm39) missense probably benign
R4948:Prdm14 UTSW 1 13,192,855 (GRCm39) missense probably damaging 1.00
R6267:Prdm14 UTSW 1 13,189,160 (GRCm39) missense probably damaging 1.00
R6902:Prdm14 UTSW 1 13,192,645 (GRCm39) missense probably benign
R7452:Prdm14 UTSW 1 13,195,783 (GRCm39) missense probably damaging 0.98
R8066:Prdm14 UTSW 1 13,184,540 (GRCm39) missense probably benign 0.00
R8265:Prdm14 UTSW 1 13,184,618 (GRCm39) missense probably damaging 1.00
R9294:Prdm14 UTSW 1 13,192,707 (GRCm39) missense possibly damaging 0.89
R9597:Prdm14 UTSW 1 13,192,657 (GRCm39) missense possibly damaging 0.82
R9658:Prdm14 UTSW 1 13,189,145 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CACATTCGCTCACGCTCACACATTG -3'
(R):5'- GGTTAACACACCTTCCGACACTTCC -3'

Sequencing Primer
(F):5'- ACACATTGGCGTCTTCCAC -3'
(R):5'- CACCCCTGTGTTTGACAGAG -3'
Posted On 2013-04-16