Incidental Mutation 'R0525:Zfp287'
ID 48861
Institutional Source Beutler Lab
Gene Symbol Zfp287
Ensembl Gene ENSMUSG00000005267
Gene Name zinc finger protein 287
Synonyms SKAT-2, B230333C16Rik
MMRRC Submission 038718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0525 (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 62606070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 279 (V279E)
Ref Sequence ENSEMBL: ENSMUSP00000141046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005399] [ENSMUST00000149228] [ENSMUST00000150336] [ENSMUST00000185656]
AlphaFold Q9EQB9
Predicted Effect probably benign
Transcript: ENSMUST00000005399
AA Change: V268E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: V268E

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 benign
Transcript: ENSMUST00000149228
AA Change: V279E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: V279E

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 benign
Transcript: ENSMUST00000185656
AA Change: V279E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: V279E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T A 7: 124,930,671 (GRCm39) noncoding transcript Het
A930002H24Rik A G 17: 64,170,642 (GRCm39) W49R unknown Het
Abca13 G A 11: 9,243,371 (GRCm39) V1745M probably damaging Het
Abca16 T G 7: 120,065,033 (GRCm39) Y563* probably null Het
Acot12 C T 13: 91,908,186 (GRCm39) probably benign Het
Alms1 G A 6: 85,564,742 (GRCm39) A39T unknown Het
Arid5b T C 10: 67,933,676 (GRCm39) D742G possibly damaging Het
Atp1a4 G A 1: 172,067,255 (GRCm39) probably benign Het
AU021092 T A 16: 5,035,725 (GRCm39) E145V possibly damaging Het
Calr4 A T 4: 109,099,461 (GRCm39) probably benign Het
Clip4 T A 17: 72,106,093 (GRCm39) probably null Het
Cnpy4 A T 5: 138,190,878 (GRCm39) H180L probably benign Het
Cyp2j9 T C 4: 96,467,802 (GRCm39) probably null Het
Dgkq A G 5: 108,802,481 (GRCm39) S406P probably damaging Het
Dhx8 G A 11: 101,654,754 (GRCm39) C1014Y probably damaging Het
Dnah3 T C 7: 119,527,977 (GRCm39) Y3824C probably damaging Het
Donson A T 16: 91,483,133 (GRCm39) H69Q probably damaging Het
Dppa3 A G 6: 122,606,939 (GRCm39) E143G probably damaging Het
Drg1 A G 11: 3,212,545 (GRCm39) F96L probably damaging Het
Dvl1 A C 4: 155,940,052 (GRCm39) T395P probably damaging Het
Eftud2 A T 11: 102,730,079 (GRCm39) V897D probably damaging Het
Enpp6 A G 8: 47,535,478 (GRCm39) N341S possibly damaging Het
F11 A G 8: 45,706,086 (GRCm39) F100L probably benign Het
Fas T C 19: 34,296,727 (GRCm39) Y189H probably damaging Het
Galnt14 G T 17: 73,852,076 (GRCm39) S114R probably damaging Het
Gfpt2 A G 11: 49,720,602 (GRCm39) I528V probably benign Het
Glt6d1 A G 2: 25,684,280 (GRCm39) V242A possibly damaging Het
Grm1 A T 10: 10,594,953 (GRCm39) probably benign Het
Gskip G A 12: 105,665,224 (GRCm39) A88T probably damaging Het
Gtpbp1 A G 15: 79,597,648 (GRCm39) I348V probably benign Het
Hnrnpul1 C A 7: 25,440,308 (GRCm39) R316L possibly damaging Het
Il34 T C 8: 111,474,915 (GRCm39) E121G probably damaging Het
Lrr1 T C 12: 69,215,685 (GRCm39) L19P probably damaging Het
Mat2b A G 11: 40,573,496 (GRCm39) probably benign Het
Mettl21e T C 1: 44,245,542 (GRCm39) K235E probably damaging Het
Mir124-2hg T A 3: 17,839,693 (GRCm39) E126V possibly damaging Het
Myh15 A G 16: 48,952,414 (GRCm39) K828R probably benign Het
Myom3 A G 4: 135,492,237 (GRCm39) D127G possibly damaging Het
Nek5 C A 8: 22,569,093 (GRCm39) probably benign Het
Nudt7 A T 8: 114,878,392 (GRCm39) probably null Het
Or10ag56 A T 2: 87,139,693 (GRCm39) T187S probably benign Het
Or10d4c T G 9: 39,558,767 (GRCm39) C248W probably damaging Het
Or1j4 T C 2: 36,740,202 (GRCm39) L48P probably damaging Het
Or4a67 G A 2: 88,597,658 (GRCm39) Q334* probably null Het
Or8k23 C T 2: 86,186,619 (GRCm39) V36I probably benign Het
Phyhd1 A G 2: 30,171,040 (GRCm39) H241R probably damaging Het
Pmch T C 10: 87,927,262 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,717 (GRCm39) S697G probably damaging Het
Rslcan18 A G 13: 67,260,322 (GRCm39) V25A probably benign Het
Sema6b T C 17: 56,433,630 (GRCm39) H426R probably damaging Het
Serpina3g T C 12: 104,204,598 (GRCm39) F9S probably damaging Het
Serpinb12 T A 1: 106,874,432 (GRCm39) H52Q probably benign Het
Sh3gl1 T C 17: 56,324,873 (GRCm39) K294R probably benign Het
Sidt1 G T 16: 44,079,809 (GRCm39) T615K possibly damaging Het
Slc16a4 A C 3: 107,205,255 (GRCm39) probably benign Het
Sned1 T A 1: 93,199,696 (GRCm39) probably null Het
Sp2 A T 11: 96,846,924 (GRCm39) probably benign Het
Steap1 T A 5: 5,792,903 (GRCm39) I3F possibly damaging Het
Stxbp5l A T 16: 36,950,159 (GRCm39) probably null Het
Tbc1d9 G T 8: 83,995,614 (GRCm39) V968F probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Triobp T C 15: 78,858,098 (GRCm39) L1233P possibly damaging Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Trpc4ap A G 2: 155,482,398 (GRCm39) F531L possibly damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Vmn1r86 T C 7: 12,836,088 (GRCm39) K213E probably benign Het
Vps8 G A 16: 21,358,859 (GRCm39) probably null Het
Wnk1 A T 6: 119,903,525 (GRCm39) S2563T probably damaging Het
Yrdc C G 4: 124,745,559 (GRCm39) R3G 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
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
Predicted Primers PCR Primer
(F):5'- CATCCGACTGGGTATCAAACTGGAC -3'
(R):5'- GGAAGGAGCCTCTCCATTTTCAGTG -3'

Sequencing Primer
(F):5'- CCCCTAGGTTTGTGTGCTTT -3'
(R):5'- TTAAGGGCCATAAAATGGAGTTATC -3'
Posted On 2013-06-12