Incidental Mutation 'R3794:Zfp287'
ID 272693
Institutional Source Beutler Lab
Gene Symbol Zfp287
Ensembl Gene ENSMUSG00000005267
Gene Name zinc finger protein 287
Synonyms SKAT-2, B230333C16Rik
MMRRC Submission 040756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3794 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 62591182-62622731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62605070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 612 (H612Q)
Ref Sequence ENSEMBL: ENSMUSP00000141046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005399] [ENSMUST00000149228] [ENSMUST00000150336] [ENSMUST00000185656]
AlphaFold Q9EQB9
Predicted Effect probably damaging
Transcript: ENSMUST00000005399
AA Change: H601Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: H601Q

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 probably damaging
Transcript: ENSMUST00000149228
AA Change: H612Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: H612Q

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 probably damaging
Transcript: ENSMUST00000185656
AA Change: H612Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: H612Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 C T 15: 98,496,824 (GRCm39) V482I probably damaging Het
Adgrv1 T A 13: 81,431,486 (GRCm39) M1L probably damaging Het
Ceacam13 A G 7: 17,747,340 (GRCm39) *264W probably null Het
Dennd5b A T 6: 149,002,715 (GRCm39) D31E possibly damaging Het
Dip2c T C 13: 9,654,597 (GRCm39) V706A probably damaging Het
Enpp3 T C 10: 24,707,630 (GRCm39) probably null Het
Exoc4 T G 6: 33,452,932 (GRCm39) V474G probably benign Het
F2rl1 A G 13: 95,649,719 (GRCm39) Y388H unknown Het
Fasl T C 1: 161,609,306 (GRCm39) R17G probably benign Het
Htr1a G A 13: 105,580,852 (GRCm39) V31M possibly damaging Het
Inpp4b T C 8: 82,759,845 (GRCm39) V445A probably damaging Het
Itih3 T C 14: 30,640,351 (GRCm39) Y319C probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kmt2d T C 15: 98,735,240 (GRCm39) probably benign Het
Mobp A T 9: 119,997,033 (GRCm39) K55* probably null Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrc3 T C 16: 3,765,739 (GRCm39) I1057V probably benign Het
Or10al7 A G 17: 38,365,786 (GRCm39) Y224H probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Piezo2 C T 18: 63,214,864 (GRCm39) R1257Q probably damaging Het
Pigv A G 4: 133,392,502 (GRCm39) S223P possibly damaging Het
Pkdcc A G 17: 83,531,382 (GRCm39) T464A probably damaging Het
Polr2k A G 15: 36,175,193 (GRCm39) I18V probably damaging Het
Pon3 A G 6: 5,221,578 (GRCm39) Y351H probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scaf8 A G 17: 3,240,524 (GRCm39) E632G probably damaging Het
Smurf1 A G 5: 144,837,985 (GRCm39) probably null Het
Tex16 T G X: 111,150,375 (GRCm39) M1R probably null Het
Tln1 G T 4: 43,536,295 (GRCm39) A1999D probably damaging Het
Trgv5 A T 13: 19,376,694 (GRCm39) H47L probably benign Het
Ttn C T 2: 76,772,781 (GRCm39) V2405I possibly damaging Het
Vps13d G A 4: 144,812,007 (GRCm39) probably benign Het
Xrcc1 A G 7: 24,269,985 (GRCm39) T469A probably benign Het
Zfp352 C T 4: 90,113,386 (GRCm39) H509Y probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCCGTTGGTGCTGAGTC -3'
(R):5'- AAGAATTTAAGCATCTCTCCTCCC -3'

Sequencing Primer
(F):5'- TGAGTCAGGTTTGCACCC -3'
(R):5'- CTGGAGTGCAGTAAAACCTTTAGCC -3'
Posted On 2015-03-25