Incidental Mutation 'R5892:Prdm16'
ID 457239
Institutional Source Beutler Lab
Gene Symbol Prdm16
Ensembl Gene ENSMUSG00000039410
Gene Name PR domain containing 16
Synonyms line 27, Mel1, 5730557K01Rik, csp1
MMRRC Submission 044093-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.700) question?
Stock # R5892 (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 154407716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1170 (D1170G)
Ref Sequence ENSEMBL: ENSMUSP00000101261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030902] [ENSMUST00000070313] [ENSMUST00000097759] [ENSMUST00000105636] [ENSMUST00000105637] [ENSMUST00000105638]
AlphaFold A2A935
Predicted Effect probably benign
Transcript: ENSMUST00000030902
AA Change: D1169G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000030902
Gene: ENSMUSG00000039410
AA Change: D1169G

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 benign
Transcript: ENSMUST00000070313
AA Change: D1171G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000064546
Gene: ENSMUSG00000039410
AA Change: D1171G

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 benign
Transcript: ENSMUST00000097759
AA Change: D1170G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095365
Gene: ENSMUSG00000039410
AA Change: D1170G

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 possibly damaging
Transcript: ENSMUST00000105636
AA Change: D1170G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101261
Gene: ENSMUSG00000039410
AA Change: D1170G

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 benign
Transcript: ENSMUST00000105637
AA Change: D1168G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101262
Gene: ENSMUSG00000039410
AA Change: D1168G

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 benign
Transcript: ENSMUST00000105638
AA Change: D1170G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000101263
Gene: ENSMUSG00000039410
AA Change: D1170G

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
Meta Mutation Damage Score 0.0741 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 98% (56/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik G T 5: 100,127,124 (GRCm39) probably benign Het
Abcb11 C T 2: 69,091,844 (GRCm39) A893T probably damaging Het
Adtrp A T 13: 41,981,682 (GRCm39) N30K probably benign Het
Alms1 T A 6: 85,597,885 (GRCm39) S904T probably damaging Het
Cep170 T A 1: 176,582,953 (GRCm39) probably null Het
Cntnap3 A G 13: 64,946,994 (GRCm39) V145A probably damaging Het
Dclre1a T C 19: 56,535,572 (GRCm39) E4G probably benign Het
Depdc1a G C 3: 159,232,306 (GRCm39) A686P probably damaging Het
Dnah7b T C 1: 46,376,753 (GRCm39) probably null Het
Enox1 A G 14: 77,723,457 (GRCm39) probably benign Het
Fam107b A G 2: 3,779,601 (GRCm39) E268G probably damaging Het
Fer1l6 A G 15: 58,435,917 (GRCm39) S437G probably benign Het
Flnb C A 14: 7,907,183 (GRCm38) T1252K probably damaging Het
Fubp1 A G 3: 151,923,951 (GRCm39) probably benign Het
Gm20402 G A 3: 52,176,370 (GRCm39) A50T probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gzmk C T 13: 113,310,456 (GRCm39) probably null Het
Ino80 A T 2: 119,270,028 (GRCm39) probably benign Het
Ints8 T C 4: 11,223,813 (GRCm39) T677A probably damaging Het
Kat6a A G 8: 23,428,305 (GRCm39) E1220G probably damaging Het
Lrfn5 A G 12: 61,890,204 (GRCm39) T498A probably damaging Het
Lrp2 T A 2: 69,273,120 (GRCm39) T4043S probably benign Het
Malrd1 A G 2: 15,619,078 (GRCm39) N314S probably benign Het
Mfsd1 A G 3: 67,497,162 (GRCm39) probably null Het
Muc1 C T 3: 89,138,300 (GRCm39) P381S probably benign Het
Myh2 A T 11: 67,076,002 (GRCm39) K730* probably null Het
Nat3 T A 8: 68,000,590 (GRCm39) N156K probably benign Het
Nelfe T C 17: 35,073,645 (GRCm39) probably benign Het
Nlrp1a A T 11: 70,990,471 (GRCm39) L927Q probably damaging Het
P4ha2 A G 11: 54,011,014 (GRCm39) Y343C probably damaging Het
Pclo A T 5: 14,571,185 (GRCm39) Q190L probably damaging Het
Pde8a A G 7: 80,945,439 (GRCm39) N183S probably damaging Het
Plekha2 C T 8: 25,542,381 (GRCm39) V278I probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Ppox C T 1: 171,105,034 (GRCm39) V385I probably damaging Het
Prmt5 A T 14: 54,747,368 (GRCm39) S470T probably damaging Het
Robo2 T A 16: 73,692,668 (GRCm39) probably benign Het
Siglecg G A 7: 43,061,628 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,949,810 (GRCm39) N367S probably damaging Het
Tex29 C T 8: 11,904,288 (GRCm39) probably benign Het
Tmem117 T A 15: 94,536,020 (GRCm39) V18E probably damaging Het
Tmtc2 C T 10: 105,249,366 (GRCm39) M122I probably benign Het
Tpr T A 1: 150,283,151 (GRCm39) N287K probably benign Het
Unc93b1 A T 19: 3,993,632 (GRCm39) D358V probably damaging Het
Vrk2 A T 11: 26,484,372 (GRCm39) probably benign Het
Wdr24 A T 17: 26,046,960 (GRCm39) Q671L probably benign Het
Zfp110 C T 7: 12,582,405 (GRCm39) T351I probably benign Het
Zfp963 T C 8: 70,196,027 (GRCm39) D142G 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
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'- AACTCTGGCTAGCATCACCC -3'
(R):5'- TTACAGGCCTGAGATCCAAGAC -3'

Sequencing Primer
(F):5'- CTAAGCCTAGTGCCAAAGCCTTG -3'
(R):5'- TGGACAGCAACCCACCGTG -3'
Posted On 2017-02-15