Incidental Mutation 'R0064:Zfp287'
ID 16588
Institutional Source Beutler Lab
Gene Symbol Zfp287
Ensembl Gene ENSMUSG00000005267
Gene Name zinc finger protein 287
Synonyms SKAT-2, B230333C16Rik
MMRRC Submission 038356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0064 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 62591182-62622731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62605764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 370 (L370H)
Ref Sequence ENSEMBL: ENSMUSP00000005399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005399] [ENSMUST00000149228] [ENSMUST00000150336] [ENSMUST00000185656]
AlphaFold Q9EQB9
Predicted Effect possibly damaging
Transcript: ENSMUST00000005399
AA Change: L370H

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: L370H

DomainStartEndE-ValueType
SCAN 27 138 1e-50 SMART
KRAB 155 212 5.79e-20 SMART
low complexity region 253 262 N/A INTRINSIC
ZnF_C2H2 355 377 5.9e-3 SMART
ZnF_C2H2 383 405 2.61e-4 SMART
ZnF_C2H2 411 433 5.59e-4 SMART
ZnF_C2H2 439 461 3.44e-4 SMART
ZnF_C2H2 467 489 9.73e-4 SMART
ZnF_C2H2 495 517 2.43e-4 SMART
ZnF_C2H2 523 545 4.54e-4 SMART
ZnF_C2H2 551 573 2.57e-3 SMART
ZnF_C2H2 579 601 4.87e-4 SMART
ZnF_C2H2 607 629 1.3e-4 SMART
ZnF_C2H2 635 657 4.79e-3 SMART
ZnF_C2H2 663 685 2.95e-3 SMART
ZnF_C2H2 691 713 3.63e-3 SMART
ZnF_C2H2 719 741 1.38e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149228
AA Change: L381H

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: L381H

DomainStartEndE-ValueType
SCAN 38 149 1e-50 SMART
KRAB 166 223 5.79e-20 SMART
low complexity region 264 273 N/A INTRINSIC
ZnF_C2H2 366 388 5.9e-3 SMART
ZnF_C2H2 394 416 2.61e-4 SMART
ZnF_C2H2 422 444 5.59e-4 SMART
ZnF_C2H2 450 472 3.44e-4 SMART
ZnF_C2H2 478 500 9.73e-4 SMART
ZnF_C2H2 506 528 2.43e-4 SMART
ZnF_C2H2 534 556 4.54e-4 SMART
ZnF_C2H2 562 584 2.57e-3 SMART
ZnF_C2H2 590 612 4.87e-4 SMART
ZnF_C2H2 618 640 1.3e-4 SMART
ZnF_C2H2 646 668 4.79e-3 SMART
ZnF_C2H2 674 696 2.95e-3 SMART
ZnF_C2H2 702 724 3.63e-3 SMART
ZnF_C2H2 730 752 1.38e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150336
SMART Domains Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267

DomainStartEndE-ValueType
SCAN 38 149 1e-50 SMART
KRAB 166 223 5.79e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185656
AA Change: L381H

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: L381H

DomainStartEndE-ValueType
SCAN 38 149 1e-50 SMART
KRAB 166 223 5.79e-20 SMART
low complexity region 264 273 N/A INTRINSIC
ZnF_C2H2 366 388 5.9e-3 SMART
ZnF_C2H2 394 416 2.61e-4 SMART
ZnF_C2H2 422 444 5.59e-4 SMART
ZnF_C2H2 450 472 3.44e-4 SMART
ZnF_C2H2 478 500 9.73e-4 SMART
ZnF_C2H2 506 528 2.43e-4 SMART
ZnF_C2H2 534 556 4.54e-4 SMART
ZnF_C2H2 562 584 2.57e-3 SMART
ZnF_C2H2 590 612 4.87e-4 SMART
ZnF_C2H2 618 640 1.3e-4 SMART
ZnF_C2H2 646 668 4.79e-3 SMART
ZnF_C2H2 674 696 2.95e-3 SMART
ZnF_C2H2 702 724 3.63e-3 SMART
ZnF_C2H2 730 752 1.38e-3 SMART
Meta Mutation Damage Score 0.1757 question?
Coding Region Coverage
  • 1x: 87.7%
  • 3x: 83.1%
  • 10x: 65.7%
  • 20x: 35.9%
Validation Efficiency 92% (56/61)
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 krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,888,288 (GRCm39) I377M probably benign Het
Ccdc25 T A 14: 66,091,561 (GRCm39) I60K possibly damaging Het
Cdk1 T C 10: 69,180,907 (GRCm39) D101G probably benign Het
Cep126 A T 9: 8,130,183 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crlf3 A G 11: 79,948,728 (GRCm39) I239T possibly damaging Het
Cul1 A G 6: 47,479,349 (GRCm39) probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fgd3 T G 13: 49,449,901 (GRCm39) D116A possibly damaging Het
Gm270 C A 13: 49,919,367 (GRCm39) noncoding transcript Het
Knl1 T A 2: 118,906,724 (GRCm39) N1604K probably benign Het
Lpl A G 8: 69,345,356 (GRCm39) H120R probably damaging Het
Myo18a G T 11: 77,738,170 (GRCm39) R1704L probably damaging Het
Nlrc3 G T 16: 3,781,951 (GRCm39) T486K possibly damaging Het
Obscn A C 11: 58,918,292 (GRCm39) V6260G probably damaging Het
Or10a2 T C 7: 106,673,487 (GRCm39) F151L probably benign Het
Pmpca C A 2: 26,285,519 (GRCm39) D498E probably benign Het
Pnpla7 G T 2: 24,887,239 (GRCm39) E28* probably null Het
Polg C A 7: 79,111,632 (GRCm39) W206C probably damaging Het
Spata31 T C 13: 65,069,912 (GRCm39) Y687H probably damaging Het
Sybu T A 15: 44,536,389 (GRCm39) T646S probably benign Het
Tns3 G A 11: 8,385,856 (GRCm39) Q1381* probably null Het
Trank1 A G 9: 111,172,263 (GRCm39) D84G probably damaging Het
Urb1 A G 16: 90,576,028 (GRCm39) F843L probably benign Het
Other mutations in Zfp287
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Zfp287 APN 11 62,604,716 (GRCm39) nonsense probably null
IGL01868:Zfp287 APN 11 62,606,083 (GRCm39) missense probably benign 0.22
IGL03290:Zfp287 APN 11 62,606,062 (GRCm39) missense probably damaging 0.98
R0064:Zfp287 UTSW 11 62,605,764 (GRCm39) missense possibly damaging 0.68
R0193:Zfp287 UTSW 11 62,605,855 (GRCm39) missense probably benign 0.12
R0211:Zfp287 UTSW 11 62,605,743 (GRCm39) missense probably damaging 0.99
R0211:Zfp287 UTSW 11 62,605,743 (GRCm39) missense probably damaging 0.99
R0525:Zfp287 UTSW 11 62,606,070 (GRCm39) missense probably benign
R0725:Zfp287 UTSW 11 62,605,039 (GRCm39) missense probably damaging 1.00
R1405:Zfp287 UTSW 11 62,619,137 (GRCm39) missense probably damaging 1.00
R1405:Zfp287 UTSW 11 62,619,137 (GRCm39) missense probably damaging 1.00
R1416:Zfp287 UTSW 11 62,605,166 (GRCm39) missense probably damaging 1.00
R1487:Zfp287 UTSW 11 62,616,115 (GRCm39) missense probably damaging 1.00
R2023:Zfp287 UTSW 11 62,605,808 (GRCm39) nonsense probably null
R2045:Zfp287 UTSW 11 62,618,395 (GRCm39) missense probably damaging 1.00
R2495:Zfp287 UTSW 11 62,605,459 (GRCm39) missense probably damaging 1.00
R3794:Zfp287 UTSW 11 62,605,070 (GRCm39) missense probably damaging 1.00
R3902:Zfp287 UTSW 11 62,603,028 (GRCm39) missense probably benign 0.00
R4816:Zfp287 UTSW 11 62,605,074 (GRCm39) missense probably damaging 1.00
R4928:Zfp287 UTSW 11 62,604,962 (GRCm39) nonsense probably null
R5048:Zfp287 UTSW 11 62,605,777 (GRCm39) missense probably damaging 0.98
R5858:Zfp287 UTSW 11 62,604,833 (GRCm39) missense probably damaging 1.00
R6349:Zfp287 UTSW 11 62,616,168 (GRCm39) missense probably damaging 0.99
R6964:Zfp287 UTSW 11 62,615,643 (GRCm39) missense probably damaging 1.00
R7024:Zfp287 UTSW 11 62,605,764 (GRCm39) missense possibly damaging 0.68
R7252:Zfp287 UTSW 11 62,615,655 (GRCm39) missense probably damaging 1.00
R7318:Zfp287 UTSW 11 62,605,104 (GRCm39) missense probably damaging 1.00
R7548:Zfp287 UTSW 11 62,604,701 (GRCm39) nonsense probably null
R7658:Zfp287 UTSW 11 62,616,089 (GRCm39) missense probably damaging 1.00
R8916:Zfp287 UTSW 11 62,605,136 (GRCm39) nonsense probably null
R9295:Zfp287 UTSW 11 62,606,115 (GRCm39) missense probably benign 0.12
Z1186:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1186:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1186:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Z1187:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1187:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1187:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Z1188:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1188:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1188:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Z1189:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1189:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Z1189:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1190:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1190:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1190:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Z1191:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1191:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1191:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Z1192:Zfp287 UTSW 11 62,613,757 (GRCm39) nonsense probably null
Z1192:Zfp287 UTSW 11 62,606,175 (GRCm39) missense probably benign
Z1192:Zfp287 UTSW 11 62,604,633 (GRCm39) missense probably benign 0.00
Posted On 2013-01-20