Incidental Mutation 'R1487:Zfp287'
ID 163546
Institutional Source Beutler Lab
Gene Symbol Zfp287
Ensembl Gene ENSMUSG00000005267
Gene Name zinc finger protein 287
Synonyms SKAT-2, B230333C16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1487 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 62591182-62622731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62616115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 192 (K192R)
Ref Sequence ENSEMBL: ENSMUSP00000121717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005399] [ENSMUST00000128370] [ENSMUST00000149228] [ENSMUST00000150336] [ENSMUST00000185656]
AlphaFold Q9EQB9
Predicted Effect probably damaging
Transcript: ENSMUST00000005399
AA Change: K181R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: K181R

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 noncoding transcript
Transcript: ENSMUST00000127732
Predicted Effect probably benign
Transcript: ENSMUST00000128370
AA Change: K181R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117179
Gene: ENSMUSG00000005267
AA Change: K181R

DomainStartEndE-ValueType
SCAN 27 138 1e-50 SMART
KRAB 155 212 5.79e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149228
AA Change: K192R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: K192R

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 damaging
Transcript: ENSMUST00000150336
AA Change: K192R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
AA Change: K192R

DomainStartEndE-ValueType
SCAN 38 149 1e-50 SMART
KRAB 166 223 5.79e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185656
AA Change: K192R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: K192R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A C 6: 146,854,877 (GRCm39) V55G probably benign Het
Abhd13 A G 8: 10,037,402 (GRCm39) probably benign Het
Arid5b T A 10: 67,933,044 (GRCm39) K953* probably null Het
Armh3 A C 19: 45,928,882 (GRCm39) probably null Het
B4galt6 A G 18: 20,839,571 (GRCm39) V121A possibly damaging Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Calu A G 6: 29,366,955 (GRCm39) I208V probably benign Het
Cd14 T C 18: 36,858,537 (GRCm39) N306S probably benign Het
Cdc16 T A 8: 13,821,445 (GRCm39) N415K probably benign Het
Cfap57 C A 4: 118,471,978 (GRCm39) V134F probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Chtf18 T C 17: 25,939,583 (GRCm39) K67R probably benign Het
Clock T C 5: 76,414,201 (GRCm39) probably null Het
Cplane1 C T 15: 8,215,715 (GRCm39) R424W probably damaging Het
Eif4g1 G A 16: 20,497,623 (GRCm39) probably benign Het
Eps8l2 A T 7: 140,941,531 (GRCm39) M601L probably benign Het
Fat4 A G 3: 39,050,066 (GRCm39) E3976G possibly damaging Het
Flrt3 T A 2: 140,502,854 (GRCm39) H258L probably damaging Het
Flt4 C A 11: 49,523,971 (GRCm39) T517K possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Gm17079 A T 14: 51,930,542 (GRCm39) probably null Het
Gucy2c T A 6: 136,725,824 (GRCm39) I375F possibly damaging Het
Hps4 C T 5: 112,525,865 (GRCm39) Q629* probably null Het
Hunk A G 16: 90,183,525 (GRCm39) Y61C probably damaging Het
Itga6 T C 2: 71,673,584 (GRCm39) S873P possibly damaging Het
Kcnc1 A G 7: 46,047,298 (GRCm39) H66R possibly damaging Het
Kcnc1 T C 7: 46,084,772 (GRCm39) probably null Het
Khdc3 A G 9: 73,009,846 (GRCm39) T19A probably benign Het
Kmt2a T C 9: 44,745,287 (GRCm39) probably benign Het
Lipe C T 7: 25,084,240 (GRCm39) A615T possibly damaging Het
Lrguk A T 6: 34,039,295 (GRCm39) M269L probably benign Het
Lrrc18 A G 14: 32,730,640 (GRCm39) N60D probably damaging Het
Magi1 T C 6: 93,685,060 (GRCm39) T773A probably benign Het
Map3k14 T A 11: 103,116,163 (GRCm39) D755V possibly damaging Het
Mecom T C 3: 30,034,213 (GRCm39) T488A probably damaging Het
Mmp10 T G 9: 7,509,978 (GRCm39) W473G probably damaging Het
Mrgpra2a C T 7: 47,076,434 (GRCm39) V275I probably benign Het
Myo7a A C 7: 97,703,017 (GRCm39) probably null Het
Nadsyn1 C T 7: 143,360,662 (GRCm39) V369I probably benign Het
Nptxr C A 15: 79,674,104 (GRCm39) G424V probably damaging Het
Nrg2 C T 18: 36,185,965 (GRCm39) G258E possibly damaging Het
Nup210 G A 6: 91,019,558 (GRCm39) P221S probably damaging Het
Odad2 A T 18: 7,273,245 (GRCm39) Y282N probably damaging Het
Or52a33 T A 7: 103,288,801 (GRCm39) H182L probably damaging Het
Or6c208 T C 10: 129,224,209 (GRCm39) F236L probably benign Het
Oxct1 A G 15: 4,177,057 (GRCm39) D477G possibly damaging Het
Pcdh8 G T 14: 80,006,987 (GRCm39) D525E probably damaging Het
Phldb2 A G 16: 45,609,387 (GRCm39) S740P probably damaging Het
Prss54 A G 8: 96,286,276 (GRCm39) S266P probably benign Het
Ptprh T A 7: 4,555,737 (GRCm39) I741F probably damaging Het
Rab11fip1 G T 8: 27,644,240 (GRCm39) S515Y probably damaging Het
Recql4 T A 15: 76,593,183 (GRCm39) N309I probably benign Het
Sec24a T C 11: 51,622,713 (GRCm39) T388A possibly damaging Het
Setd6 T A 8: 96,444,556 (GRCm39) L83H probably damaging Het
Slc6a12 G A 6: 121,340,716 (GRCm39) W534* probably null Het
St14 C T 9: 31,008,476 (GRCm39) C488Y probably damaging Het
Supt16 A G 14: 52,414,065 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,460 (GRCm39) Y1968C probably damaging Het
Tcaim T A 9: 122,647,897 (GRCm39) Y137* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm3 A T 3: 89,997,389 (GRCm39) probably null Het
Trip12 A T 1: 84,746,352 (GRCm39) N475K probably damaging Het
Twnk G T 19: 44,996,815 (GRCm39) probably null Het
Zfp799 G T 17: 33,039,651 (GRCm39) T204N possibly 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
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'- CTTTTGGGGAGCAGTAGACATGACC -3'
(R):5'- TGTGGAGTCAGTCATAGACCAGATGAG -3'

Sequencing Primer
(F):5'- GGAGCAGTAGACATGACCATTTTTG -3'
(R):5'- gctctcctaccccagcc -3'
Posted On 2014-03-28