Incidental Mutation 'IGL01517:Prdm16'
ID 90443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm16
Ensembl Gene ENSMUSG00000039410
Gene Name PR domain containing 16
Synonyms line 27, Mel1, 5730557K01Rik, csp1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.700) question?
Stock # IGL01517
Quality Score
Status
Chromosome 4
Chromosomal Location 154400582-154721330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154412882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1041 (H1041R)
Ref Sequence ENSEMBL: ENSMUSP00000101263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030902] [ENSMUST00000070313] [ENSMUST00000097759] [ENSMUST00000105636] [ENSMUST00000105637] [ENSMUST00000105638]
AlphaFold A2A935
Predicted Effect probably damaging
Transcript: ENSMUST00000030902
AA Change: H1040R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030902
Gene: ENSMUSG00000039410
AA Change: H1040R

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: H1042R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064546
Gene: ENSMUSG00000039410
AA Change: H1042R

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: H1041R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095365
Gene: ENSMUSG00000039410
AA Change: H1041R

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: H1041R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101261
Gene: ENSMUSG00000039410
AA Change: H1041R

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: H1039R

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101262
Gene: ENSMUSG00000039410
AA Change: H1039R

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: H1041R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101263
Gene: ENSMUSG00000039410
AA Change: H1041R

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: ENSMUST00000156069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145217
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,526,700 (GRCm39) probably benign Het
Arpc1b A G 5: 145,064,679 (GRCm39) probably benign Het
Ccdc54 G A 16: 50,410,280 (GRCm39) L329F possibly damaging Het
Cdc42bpg G A 19: 6,368,467 (GRCm39) R1055H probably damaging Het
Cylc1 A G X: 110,162,799 (GRCm39) T29A possibly damaging Het
Ddx50 T C 10: 62,482,911 (GRCm39) T53A probably benign Het
Dmap1 G A 4: 117,533,206 (GRCm39) R283C probably damaging Het
Extl3 A T 14: 65,314,156 (GRCm39) L342H probably damaging Het
Gjb3 A C 4: 127,219,914 (GRCm39) I206S probably damaging Het
Gphn T A 12: 78,423,148 (GRCm39) I53K probably damaging Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Inpp5b T A 4: 124,676,229 (GRCm39) C362S probably benign Het
Iqgap3 C A 3: 88,016,703 (GRCm39) Q1062K probably benign Het
Kdm2a A G 19: 4,412,089 (GRCm39) probably benign Het
Ltbp3 A G 19: 5,807,760 (GRCm39) D1167G possibly damaging Het
Mpo A G 11: 87,686,647 (GRCm39) N65D possibly damaging Het
Mrpl2 A G 17: 46,960,909 (GRCm39) R268G probably damaging Het
Nfkbia C T 12: 55,537,430 (GRCm39) A220T probably damaging Het
Nlrc3 T A 16: 3,765,351 (GRCm39) I1091F probably damaging Het
Notch2 T A 3: 98,045,971 (GRCm39) S1674R probably benign Het
Or10h28 T A 17: 33,488,629 (GRCm39) N310K probably benign Het
Or14a257 T C 7: 86,138,765 (GRCm39) probably benign Het
Pde8b A G 13: 95,237,395 (GRCm39) probably null Het
Pla2r1 A G 2: 60,334,597 (GRCm39) Y392H probably damaging Het
Plekhm1 A T 11: 103,285,609 (GRCm39) N275K possibly damaging Het
Rapsn C A 2: 90,866,963 (GRCm39) N88K probably damaging Het
Rasef T A 4: 73,688,059 (GRCm39) Q31H probably benign Het
Rpl28-ps4 T C 6: 117,190,813 (GRCm39) noncoding transcript Het
Trpc7 T C 13: 57,008,878 (GRCm39) Y263C probably damaging Het
Ttn T C 2: 76,577,940 (GRCm39) T24318A probably damaging Het
Vmn1r35 T C 6: 66,656,434 (GRCm39) T79A probably benign Het
Vmn2r100 T A 17: 19,742,225 (GRCm39) S200T probably benign Het
Wnt9b A G 11: 103,621,907 (GRCm39) V250A probably benign Het
Zyg11a T A 4: 108,058,391 (GRCm39) K383M probably null Het
Other mutations in Prdm16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Prdm16 APN 4 154,426,426 (GRCm39) missense possibly damaging 0.89
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
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
Posted On 2013-12-09