Incidental Mutation 'R7273:Prdm16'
ID 565393
Institutional Source Beutler Lab
Gene Symbol Prdm16
Ensembl Gene ENSMUSG00000039410
Gene Name PR domain containing 16
Synonyms line 27, Mel1, 5730557K01Rik, csp1
MMRRC Submission 045357-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.700) question?
Stock # R7273 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 154400582-154721330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154429910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 353 (L353P)
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: L353P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030902
Gene: ENSMUSG00000039410
AA Change: L353P

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: L354P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064546
Gene: ENSMUSG00000039410
AA Change: L354P

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: L353P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095365
Gene: ENSMUSG00000039410
AA Change: L353P

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: L354P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101261
Gene: ENSMUSG00000039410
AA Change: L354P

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 probably damaging
Transcript: ENSMUST00000105637
AA Change: L352P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101262
Gene: ENSMUSG00000039410
AA Change: L352P

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: L353P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101263
Gene: ENSMUSG00000039410
AA Change: L353P

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: ENSMUST00000131762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141164
Predicted Effect probably benign
Transcript: ENSMUST00000181143
SMART Domains Protein: ENSMUSP00000138001
Gene: ENSMUSG00000097871

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (49/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol10a A T 15: 77,373,068 (GRCm39) I235F probably damaging Het
Aspn A T 13: 49,712,352 (GRCm39) E222D probably benign Het
Cfap221 A T 1: 119,881,948 (GRCm39) V280D possibly damaging Het
Chrd G A 16: 20,560,316 (GRCm39) R922Q probably benign Het
Cnga4 T A 7: 105,056,172 (GRCm39) V361E probably damaging Het
Col15a1 T A 4: 47,284,467 (GRCm39) probably null Het
Col6a4 A G 9: 105,877,656 (GRCm39) V2107A possibly damaging Het
Eea1 G T 10: 95,825,493 (GRCm39) V63F probably benign Het
Eml1 A G 12: 108,504,432 (GRCm39) H797R possibly damaging Het
Il1r2 A G 1: 40,151,167 (GRCm39) T141A probably benign Het
Il6st T C 13: 112,631,832 (GRCm39) V457A probably benign Het
Kif19b T A 5: 140,461,767 (GRCm39) V523E probably damaging Het
Lrrc56 T C 7: 140,789,578 (GRCm39) C532R probably benign Het
Lrrn4 T C 2: 132,721,749 (GRCm39) S23G unknown Het
Mapk8ip3 A T 17: 25,125,148 (GRCm39) D498E probably benign Het
Mcam T C 9: 44,052,241 (GRCm39) F584S possibly damaging Het
Mdga1 A T 17: 30,188,912 (GRCm39) D50E unknown Het
Mga T C 2: 119,765,695 (GRCm39) S1320P probably damaging Het
Muc5b G A 7: 141,405,307 (GRCm39) G905D unknown Het
Ncor2 T C 5: 125,100,687 (GRCm39) N1297S Het
Nisch A G 14: 30,896,364 (GRCm39) V946A unknown Het
Npc1l1 A G 11: 6,168,320 (GRCm39) F957S probably damaging Het
Nuggc A G 14: 65,857,057 (GRCm39) N402S probably damaging Het
Nup210l A G 3: 90,025,854 (GRCm39) T159A probably benign Het
Or10g6 A T 9: 39,933,961 (GRCm39) I91F probably benign Het
Otud1 A G 2: 19,663,873 (GRCm39) D334G probably damaging Het
Pclo T C 5: 14,731,608 (GRCm39) V3370A unknown Het
Prepl A C 17: 85,389,420 (GRCm39) V128G probably benign Het
Pum1 T C 4: 130,478,791 (GRCm39) V568A probably damaging Het
Rab10 G T 12: 3,306,891 (GRCm39) S101R probably benign Het
Rfx3 C T 19: 27,779,858 (GRCm39) R435Q probably damaging Het
Rnf213 A T 11: 119,322,582 (GRCm39) probably null Het
Sema5a A G 15: 32,417,608 (GRCm39) D26G probably benign Het
Slc49a3 T C 5: 108,589,857 (GRCm39) D515G probably benign Het
Spata31d1b G A 13: 59,865,446 (GRCm39) V865I probably benign Het
Sycp3 A T 10: 88,305,428 (GRCm39) Q176H probably damaging Het
Tdpoz8 G T 3: 92,981,475 (GRCm39) M90I probably damaging Het
Tmprss11d A T 5: 86,485,098 (GRCm39) V102D probably damaging Het
Top1mt A G 15: 75,535,931 (GRCm39) V457A probably benign Het
Tubal3 T A 13: 3,980,675 (GRCm39) I129N probably damaging Het
Ubr3 G A 2: 69,809,677 (GRCm39) D1217N probably damaging Het
Uggt1 A G 1: 36,201,302 (GRCm39) I1146T probably damaging Het
Umod T C 7: 119,076,250 (GRCm39) Q172R probably benign Het
Uqcc5 G T 14: 30,846,555 (GRCm39) R55S probably damaging Het
Zdbf2 C T 1: 63,342,563 (GRCm39) A314V possibly damaging Het
Zfp787 A T 7: 6,136,039 (GRCm39) C71S possibly damaging Het
Zhx2 C T 15: 57,686,824 (GRCm39) A731V probably benign 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
R4584:Prdm16 UTSW 4 154,422,140 (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
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'- AACGGCGTGGTGTCACATTC -3'
(R):5'- TGCTAAGGCCCTCTGGTAATAAC -3'

Sequencing Primer
(F):5'- GTGTCACATTCCCTCTACCAAACTAG -3'
(R):5'- CTACTACAGCAAGAGGTATCCTGG -3'
Posted On 2019-06-26