Incidental Mutation 'R4584:Prdm16'
ID 343902
Institutional Source Beutler Lab
Gene Symbol Prdm16
Ensembl Gene ENSMUSG00000039410
Gene Name PR domain containing 16
Synonyms line 27, Mel1, 5730557K01Rik, csp1
MMRRC Submission 041805-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.700) question?
Stock # R4584 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154400582-154721330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154422140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 885 (E885G)
Ref Sequence ENSEMBL: ENSMUSP00000101263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030902] [ENSMUST00000070313] [ENSMUST00000097759] [ENSMUST00000105636] [ENSMUST00000105637] [ENSMUST00000105638] [ENSMUST00000181143]
AlphaFold A2A935
Predicted Effect probably damaging
Transcript: ENSMUST00000030902
AA Change: E884G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030902
Gene: ENSMUSG00000039410
AA Change: E884G

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
SET 84 217 8.75e-5 SMART
ZnF_C2H2 230 250 2.82e1 SMART
low complexity region 260 274 N/A INTRINSIC
ZnF_C2H2 282 304 1.04e-3 SMART
ZnF_C2H2 310 332 1.6e-4 SMART
ZnF_C2H2 338 361 3.95e-4 SMART
ZnF_C2H2 367 389 1.95e-3 SMART
ZnF_C2H2 395 417 8.22e-2 SMART
ZnF_C2H2 424 451 9.96e0 SMART
low complexity region 496 517 N/A INTRINSIC
low complexity region 520 540 N/A INTRINSIC
low complexity region 610 641 N/A INTRINSIC
ZnF_C2H2 951 973 5.29e-5 SMART
ZnF_C2H2 979 1002 1.6e-4 SMART
ZnF_C2H2 1008 1030 7.26e-3 SMART
low complexity region 1116 1132 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070313
AA Change: E886G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064546
Gene: ENSMUSG00000039410
AA Change: E886G

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
SET 84 218 8.75e-5 SMART
ZnF_C2H2 231 251 2.82e1 SMART
low complexity region 261 275 N/A INTRINSIC
ZnF_C2H2 283 305 1.04e-3 SMART
ZnF_C2H2 311 333 1.6e-4 SMART
ZnF_C2H2 339 362 3.95e-4 SMART
ZnF_C2H2 368 390 1.95e-3 SMART
ZnF_C2H2 396 418 8.22e-2 SMART
ZnF_C2H2 425 452 9.96e0 SMART
low complexity region 497 518 N/A INTRINSIC
low complexity region 521 541 N/A INTRINSIC
low complexity region 611 642 N/A INTRINSIC
ZnF_C2H2 953 975 5.29e-5 SMART
ZnF_C2H2 981 1004 1.6e-4 SMART
ZnF_C2H2 1010 1032 7.26e-3 SMART
low complexity region 1118 1134 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097759
AA Change: E885G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095365
Gene: ENSMUSG00000039410
AA Change: E885G

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
SET 84 217 8.75e-5 SMART
ZnF_C2H2 230 250 2.82e1 SMART
low complexity region 260 274 N/A INTRINSIC
ZnF_C2H2 282 304 1.04e-3 SMART
ZnF_C2H2 310 332 1.6e-4 SMART
ZnF_C2H2 338 361 3.95e-4 SMART
ZnF_C2H2 367 389 1.95e-3 SMART
ZnF_C2H2 395 417 8.22e-2 SMART
ZnF_C2H2 424 451 9.96e0 SMART
low complexity region 496 517 N/A INTRINSIC
low complexity region 520 540 N/A INTRINSIC
low complexity region 610 641 N/A INTRINSIC
ZnF_C2H2 952 974 5.29e-5 SMART
ZnF_C2H2 980 1003 1.6e-4 SMART
ZnF_C2H2 1009 1031 7.26e-3 SMART
low complexity region 1117 1133 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105636
AA Change: E885G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101261
Gene: ENSMUSG00000039410
AA Change: E885G

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
SET 84 218 8.75e-5 SMART
ZnF_C2H2 231 251 2.82e1 SMART
low complexity region 261 275 N/A INTRINSIC
ZnF_C2H2 283 305 1.04e-3 SMART
ZnF_C2H2 311 333 1.6e-4 SMART
ZnF_C2H2 339 362 3.95e-4 SMART
ZnF_C2H2 368 390 1.95e-3 SMART
ZnF_C2H2 396 418 8.22e-2 SMART
ZnF_C2H2 425 452 9.96e0 SMART
low complexity region 497 518 N/A INTRINSIC
low complexity region 521 541 N/A INTRINSIC
low complexity region 611 642 N/A INTRINSIC
ZnF_C2H2 952 974 5.29e-5 SMART
ZnF_C2H2 980 1003 1.6e-4 SMART
ZnF_C2H2 1009 1031 7.26e-3 SMART
low complexity region 1117 1133 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105637
AA Change: E883G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101262
Gene: ENSMUSG00000039410
AA Change: E883G

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
SET 84 216 8.75e-5 SMART
ZnF_C2H2 229 249 2.82e1 SMART
low complexity region 259 273 N/A INTRINSIC
ZnF_C2H2 281 303 1.04e-3 SMART
ZnF_C2H2 309 331 1.6e-4 SMART
ZnF_C2H2 337 360 3.95e-4 SMART
ZnF_C2H2 366 388 1.95e-3 SMART
ZnF_C2H2 394 416 8.22e-2 SMART
ZnF_C2H2 423 450 9.96e0 SMART
low complexity region 495 516 N/A INTRINSIC
low complexity region 519 539 N/A INTRINSIC
low complexity region 609 640 N/A INTRINSIC
ZnF_C2H2 950 972 5.29e-5 SMART
ZnF_C2H2 978 1001 1.6e-4 SMART
ZnF_C2H2 1007 1029 7.26e-3 SMART
low complexity region 1115 1131 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105638
AA Change: E885G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101263
Gene: ENSMUSG00000039410
AA Change: E885G

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
SET 84 217 8.75e-5 SMART
ZnF_C2H2 230 250 2.82e1 SMART
low complexity region 260 274 N/A INTRINSIC
ZnF_C2H2 282 304 1.04e-3 SMART
ZnF_C2H2 310 332 1.6e-4 SMART
ZnF_C2H2 338 361 3.95e-4 SMART
ZnF_C2H2 367 389 1.95e-3 SMART
ZnF_C2H2 395 417 8.22e-2 SMART
ZnF_C2H2 424 451 9.96e0 SMART
low complexity region 496 517 N/A INTRINSIC
low complexity region 520 540 N/A INTRINSIC
low complexity region 610 641 N/A INTRINSIC
ZnF_C2H2 952 974 5.29e-5 SMART
ZnF_C2H2 980 1003 1.6e-4 SMART
ZnF_C2H2 1009 1031 7.26e-3 SMART
low complexity region 1117 1133 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156069
Predicted Effect probably benign
Transcript: ENSMUST00000181143
SMART Domains Protein: ENSMUSP00000138001
Gene: ENSMUSG00000097871

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
Meta Mutation Damage Score 0.3458 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (86/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice exhibit a cleft secondary palate, whitening of brown adipose tissue in older or fed a high-fat diet, and impaired adaptive thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,886,756 (GRCm39) N343D probably damaging Het
9530002B09Rik T A 4: 122,594,979 (GRCm39) D78E possibly damaging Het
A2m C A 6: 121,634,365 (GRCm39) D632E probably benign Het
Alpk2 A G 18: 65,440,035 (GRCm39) S453P probably damaging Het
Birc2 A T 9: 7,833,675 (GRCm39) F269I probably damaging Het
Ccdc66 G A 14: 27,222,468 (GRCm39) P92S probably benign Het
Cdc34 T A 10: 79,523,869 (GRCm39) D108E possibly damaging Het
Cdk5rap2 A C 4: 70,184,997 (GRCm39) V1151G probably damaging Het
Cemip T C 7: 83,607,747 (GRCm39) K753R probably damaging Het
Cep295 A T 9: 15,246,095 (GRCm39) L787Q possibly damaging Het
Cideb T C 14: 55,995,727 (GRCm39) N8S probably benign Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapl1 C A 2: 59,335,086 (GRCm39) T80K possibly damaging Het
Ddx6 T C 9: 44,535,784 (GRCm39) V171A probably damaging Het
Dnah12 C A 14: 26,494,551 (GRCm39) T34K probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Ep400 T A 5: 110,881,763 (GRCm39) probably benign Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2-T15 A T 17: 36,368,559 (GRCm39) M123K probably damaging Het
Ighv1-66 T A 12: 115,557,016 (GRCm39) Q22L possibly damaging Het
Igkv4-80 T C 6: 68,993,720 (GRCm39) Y57C probably damaging Het
Itpk1 G A 12: 102,536,416 (GRCm39) A410V possibly damaging Het
Itsn1 T A 16: 91,617,471 (GRCm39) probably benign Het
Kcnk3 G T 5: 30,745,730 (GRCm39) A24S probably damaging Het
Kif20a A G 18: 34,765,664 (GRCm39) Y887C probably damaging Het
Klf13 T C 7: 63,587,718 (GRCm39) T193A possibly damaging Het
Klhl9 G T 4: 88,640,144 (GRCm39) H32Q probably damaging Het
Kndc1 C G 7: 139,481,159 (GRCm39) P82A probably damaging Het
Llgl1 T A 11: 60,602,908 (GRCm39) L861Q probably damaging Het
Lpcat2 A G 8: 93,615,999 (GRCm39) E305G probably damaging Het
Mib2 C A 4: 155,741,744 (GRCm39) A293S probably damaging Het
Mtfr1 A G 3: 19,269,766 (GRCm39) E138G probably damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ninj1 T A 13: 49,347,442 (GRCm39) probably null Het
Nlgn2 A T 11: 69,725,104 (GRCm39) V54E possibly damaging Het
Nlrc5 A C 8: 95,203,903 (GRCm39) I668L probably damaging Het
Npy6r T A 18: 44,409,262 (GRCm39) C228S probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Nup107 T C 10: 117,602,273 (GRCm39) I513M probably benign Het
Oit3 T C 10: 59,261,284 (GRCm39) D461G probably damaging Het
Or2ab1 T A 11: 58,488,830 (GRCm39) F205I probably benign Het
Paxbp1 T C 16: 90,831,011 (GRCm39) D455G probably damaging Het
Pcdh7 A T 5: 57,878,625 (GRCm39) T727S probably damaging Het
Pex14 G A 4: 149,055,053 (GRCm39) A113V probably damaging Het
Phc3 A G 3: 31,020,031 (GRCm39) V23A possibly damaging Het
Plec T C 15: 76,115,406 (GRCm39) D56G possibly damaging Het
Plekha7 C A 7: 115,836,768 (GRCm39) probably benign Het
Prss1l T C 6: 41,373,701 (GRCm39) L188P probably benign Het
Psd2 A G 18: 36,145,881 (GRCm39) T762A probably benign Het
Psme4 T A 11: 30,784,318 (GRCm39) H964Q probably damaging Het
Rbak C T 5: 143,161,878 (GRCm39) V51I probably benign Het
Rbfa A G 18: 80,243,721 (GRCm39) L15P probably benign Het
Ren1 T C 1: 133,282,546 (GRCm39) Y84H probably damaging Het
Rps6ka5 A T 12: 100,547,577 (GRCm39) I311N probably damaging Het
Samd14 T A 11: 94,912,361 (GRCm39) probably null Het
Scaf4 T C 16: 90,026,403 (GRCm39) probably benign Het
Serpina12 A T 12: 104,004,611 (GRCm39) L7Q unknown Het
Serpinb9d A T 13: 33,384,599 (GRCm39) E192V probably damaging Het
Slc22a29 A T 19: 8,146,655 (GRCm39) F382L probably benign Het
Snta1 T A 2: 154,220,035 (GRCm39) D375V probably benign Het
Stat5b T A 11: 100,678,064 (GRCm39) Y683F probably damaging Het
Strip1 A T 3: 107,531,819 (GRCm39) Y257N probably benign Het
Sugp2 A G 8: 70,704,548 (GRCm39) H695R probably benign Het
Svep1 T A 4: 58,068,526 (GRCm39) R3087* probably null Het
Syngr2 T C 11: 117,703,947 (GRCm39) V138A probably damaging Het
Thra T C 11: 98,655,310 (GRCm39) F397L probably benign Het
Tmem45b T A 9: 31,339,951 (GRCm39) I149F probably damaging Het
Tmprss11f C T 5: 86,687,553 (GRCm39) probably null Het
Ush2a C T 1: 188,183,995 (GRCm39) T1433I probably benign Het
Vmn2r109 A T 17: 20,774,820 (GRCm39) Y178* probably null Het
Vmn2r84 T G 10: 130,226,582 (GRCm39) M419L probably benign Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp268 T A 4: 145,343,747 (GRCm39) probably null Het
Zfp276 A G 8: 123,995,145 (GRCm39) probably benign Het
Zfp568 T G 7: 29,697,617 (GRCm39) F100V probably benign Het
Zfp667 T A 7: 6,293,624 (GRCm39) D41E possibly damaging Het
Other mutations in Prdm16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Prdm16 APN 4 154,426,426 (GRCm39) missense possibly damaging 0.89
IGL01517:Prdm16 APN 4 154,412,882 (GRCm39) missense probably damaging 1.00
IGL01810:Prdm16 APN 4 154,432,384 (GRCm39) missense probably benign 0.10
IGL02260:Prdm16 APN 4 154,412,744 (GRCm39) missense probably benign 0.00
IGL02623:Prdm16 APN 4 154,425,334 (GRCm39) missense probably damaging 0.98
IGL02744:Prdm16 APN 4 154,429,910 (GRCm39) missense probably damaging 1.00
R0126:Prdm16 UTSW 4 154,413,295 (GRCm39) splice site probably benign
R0345:Prdm16 UTSW 4 154,425,568 (GRCm39) missense probably benign 0.09
R0365:Prdm16 UTSW 4 154,426,513 (GRCm39) missense probably damaging 1.00
R0440:Prdm16 UTSW 4 154,561,084 (GRCm39) splice site probably benign
R0899:Prdm16 UTSW 4 154,613,366 (GRCm39) missense probably damaging 1.00
R1127:Prdm16 UTSW 4 154,613,256 (GRCm39) missense probably damaging 1.00
R1546:Prdm16 UTSW 4 154,613,117 (GRCm39) missense possibly damaging 0.94
R1803:Prdm16 UTSW 4 154,419,718 (GRCm39) missense probably damaging 1.00
R2117:Prdm16 UTSW 4 154,432,382 (GRCm39) missense probably null 0.99
R3814:Prdm16 UTSW 4 154,412,750 (GRCm39) missense probably damaging 1.00
R4348:Prdm16 UTSW 4 154,561,124 (GRCm39) missense probably benign 0.00
R4458:Prdm16 UTSW 4 154,406,765 (GRCm39) missense probably benign
R4557:Prdm16 UTSW 4 154,613,284 (GRCm39) missense probably benign 0.01
R4581:Prdm16 UTSW 4 154,407,810 (GRCm39) missense probably damaging 1.00
R4627:Prdm16 UTSW 4 154,451,697 (GRCm39) missense probably damaging 1.00
R4926:Prdm16 UTSW 4 154,426,009 (GRCm39) missense possibly damaging 0.74
R5055:Prdm16 UTSW 4 154,419,719 (GRCm39) missense possibly damaging 0.48
R5152:Prdm16 UTSW 4 154,430,559 (GRCm39) missense probably damaging 0.99
R5257:Prdm16 UTSW 4 154,451,671 (GRCm39) missense possibly damaging 0.89
R5258:Prdm16 UTSW 4 154,451,671 (GRCm39) missense possibly damaging 0.89
R5368:Prdm16 UTSW 4 154,429,848 (GRCm39) missense probably damaging 1.00
R5464:Prdm16 UTSW 4 154,430,601 (GRCm39) critical splice acceptor site probably null
R5640:Prdm16 UTSW 4 154,426,367 (GRCm39) missense probably benign
R5744:Prdm16 UTSW 4 154,613,161 (GRCm39) missense probably damaging 1.00
R5892:Prdm16 UTSW 4 154,407,716 (GRCm39) missense possibly damaging 0.74
R5938:Prdm16 UTSW 4 154,432,411 (GRCm39) missense probably damaging 0.99
R6380:Prdm16 UTSW 4 154,425,824 (GRCm39) missense probably benign 0.00
R6784:Prdm16 UTSW 4 154,407,764 (GRCm39) missense probably damaging 1.00
R7097:Prdm16 UTSW 4 154,429,925 (GRCm39) missense probably damaging 1.00
R7181:Prdm16 UTSW 4 154,613,094 (GRCm39) missense probably damaging 1.00
R7197:Prdm16 UTSW 4 154,425,967 (GRCm39) missense probably damaging 1.00
R7273:Prdm16 UTSW 4 154,429,910 (GRCm39) missense probably damaging 1.00
R7379:Prdm16 UTSW 4 154,613,316 (GRCm39) missense probably damaging 1.00
R7641:Prdm16 UTSW 4 154,429,901 (GRCm39) missense probably damaging 1.00
R7704:Prdm16 UTSW 4 154,425,947 (GRCm39) missense probably damaging 1.00
R7751:Prdm16 UTSW 4 154,412,756 (GRCm39) missense probably damaging 1.00
R8048:Prdm16 UTSW 4 154,405,339 (GRCm39) missense probably damaging 1.00
R8225:Prdm16 UTSW 4 154,439,702 (GRCm39) critical splice donor site probably null
R8503:Prdm16 UTSW 4 154,426,009 (GRCm39) missense probably benign 0.04
R8683:Prdm16 UTSW 4 154,613,161 (GRCm39) missense probably damaging 1.00
R8880:Prdm16 UTSW 4 154,613,370 (GRCm39) missense probably damaging 1.00
R9257:Prdm16 UTSW 4 154,422,155 (GRCm39) missense probably damaging 1.00
R9259:Prdm16 UTSW 4 154,430,525 (GRCm39) missense possibly damaging 0.69
RF008:Prdm16 UTSW 4 154,426,452 (GRCm39) missense probably damaging 1.00
X0010:Prdm16 UTSW 4 154,407,834 (GRCm39) missense probably damaging 1.00
Z1176:Prdm16 UTSW 4 154,426,243 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTTATGAGAGCAACCCTTCCC -3'
(R):5'- CTGGAGGCCCATTGAAGTTC -3'

Sequencing Primer
(F):5'- ATGAGAGCAACCCTTCCCTATGTG -3'
(R):5'- GGCCCATTGAAGTTCAGGTAG -3'
Posted On 2015-09-24