Incidental Mutation 'R1416:Zfp287'
ID 159599
Institutional Source Beutler Lab
Gene Symbol Zfp287
Ensembl Gene ENSMUSG00000005267
Gene Name zinc finger protein 287
Synonyms SKAT-2, B230333C16Rik
MMRRC Submission 039472-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1416 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 62591182-62622731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62605166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 580 (H580Q)
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: H569Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: H569Q

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: H580Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: H580Q

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: H580Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: H580Q

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 0.6555 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 94% (63/67)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T C 9: 103,950,822 (GRCm39) S49P probably damaging Het
Afm T C 5: 90,674,238 (GRCm39) I250T possibly damaging Het
Alox5 G A 6: 116,400,106 (GRCm39) Q278* probably null Het
Anxa7 G A 14: 20,512,775 (GRCm39) R253C probably damaging Het
Arfgef1 T A 1: 10,243,164 (GRCm39) T1059S probably damaging Het
Arpp21 T C 9: 112,008,197 (GRCm39) E101G probably damaging Het
Bcr A T 10: 74,897,338 (GRCm39) I161F possibly damaging Het
Ccdc141 T C 2: 76,845,140 (GRCm39) E1309G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cep41 C T 6: 30,657,356 (GRCm39) S233N probably damaging Het
Col5a1 T G 2: 27,812,076 (GRCm39) S53A unknown Het
Cplane1 C T 15: 8,276,422 (GRCm39) Q2689* probably null Het
Efnb2 A G 8: 8,672,329 (GRCm39) probably null Het
Epb41l5 T C 1: 119,477,606 (GRCm39) probably benign Het
Eri2 A G 7: 119,390,397 (GRCm39) F77S probably damaging Het
Ern1 C T 11: 106,312,806 (GRCm39) probably benign Het
Eya3 T C 4: 132,434,440 (GRCm39) probably benign Het
Icos T C 1: 61,033,802 (GRCm39) L144P probably damaging Het
Ipo8 A G 6: 148,690,591 (GRCm39) V717A probably benign Het
Lrp12 T C 15: 39,742,019 (GRCm39) E232G probably damaging Het
Lrp1b A G 2: 40,888,228 (GRCm39) I2344T probably damaging Het
Mettl5 A T 2: 69,701,633 (GRCm39) F207I possibly damaging Het
Mtor G T 4: 148,575,871 (GRCm39) E1342* probably null Het
Nrap A G 19: 56,315,725 (GRCm39) Y1360H possibly damaging Het
Nsun7 T C 5: 66,418,423 (GRCm39) V51A probably damaging Het
Or5an11 C A 19: 12,246,258 (GRCm39) F221L probably benign Het
Or5p5 T C 7: 107,414,469 (GRCm39) L228P probably damaging Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Or8k27 T C 2: 86,275,664 (GRCm39) I221V probably benign Het
Or9m1b T A 2: 87,836,915 (GRCm39) Y60F probably damaging Het
Otud6b A C 4: 14,818,473 (GRCm39) L143V probably damaging Het
Pabir2 T C X: 52,335,023 (GRCm39) *256W probably null Het
Pp2d1 T C 17: 53,822,835 (GRCm39) N77S probably benign Het
Ppp4r3c2 A T X: 88,797,283 (GRCm39) M372L probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Raly G T 2: 154,699,273 (GRCm39) G26* probably null Het
Rarb T C 14: 16,435,177 (GRCm38) M290V possibly damaging Het
Rusc2 A G 4: 43,421,617 (GRCm39) E679G possibly damaging Het
Scap T C 9: 110,213,841 (GRCm39) V1268A probably damaging Het
Setd1b C T 5: 123,298,748 (GRCm39) probably benign Het
Shisa3 C G 5: 67,768,777 (GRCm39) P226A probably benign Het
Smox C T 2: 131,364,051 (GRCm39) S481F probably damaging Het
Stard9 T C 2: 120,531,453 (GRCm39) V2570A probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Sult4a1 C T 15: 83,970,847 (GRCm39) R186Q probably benign Het
Taf2 G T 15: 54,901,806 (GRCm39) A796E possibly damaging Het
Taf4b T C 18: 14,954,484 (GRCm39) probably benign Het
Thbs4 G T 13: 92,898,041 (GRCm39) Q593K probably benign Het
Tigd3 T C 19: 5,941,753 (GRCm39) D459G probably benign Het
Tmem168 A T 6: 13,591,400 (GRCm39) L472Q probably damaging Het
Tmem169 G T 1: 72,339,875 (GRCm39) V102F probably damaging Het
Tmem241 T C 18: 12,126,631 (GRCm39) T274A probably benign Het
Trip10 A G 17: 57,557,800 (GRCm39) Y28C probably damaging Het
Ubp1 T C 9: 113,799,239 (GRCm39) V398A probably benign Het
Ubr3 A G 2: 69,775,415 (GRCm39) Y567C probably damaging Het
Uckl1 A T 2: 181,211,362 (GRCm39) M489K possibly damaging Het
Ush2a C T 1: 188,169,080 (GRCm39) P1074S probably damaging Het
Vmn1r62 T C 7: 5,678,904 (GRCm39) V195A probably damaging Het
Vmn2r63 T A 7: 42,577,339 (GRCm39) I400L probably benign Het
Vmn2r67 T A 7: 84,800,824 (GRCm39) I371F probably benign Het
Wdr64 A G 1: 175,633,568 (GRCm39) T940A probably benign Het
Zfp105 A T 9: 122,759,742 (GRCm39) Y471F 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
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
Predicted Primers PCR Primer
(F):5'- GTCAGGTTTGCACCCTGTCTGT -3'
(R):5'- GCGGCAAAGAATTTAAGCATCTCTCCT -3'

Sequencing Primer
(F):5'- gcttttctccattgtgaatcctc -3'
(R):5'- cagtcagcgagcacacc -3'
Posted On 2014-03-14