Incidental Mutation 'IGL03290:Zfp287'
ID 415856
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03290
Quality Score
Status
Chromosome 11
Chromosomal Location 62591182-62622731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62606062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 282 (F282L)
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: F271L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: F271L

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: F282L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: F282L

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: F282L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: F282L

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,302,646 (GRCm39) probably benign Het
Asb18 A G 1: 89,942,296 (GRCm39) S2P probably damaging Het
Atp2b2 A G 6: 113,770,715 (GRCm39) F398S probably damaging Het
BC034090 T G 1: 155,101,856 (GRCm39) D136A probably damaging Het
Ces5a A C 8: 94,246,260 (GRCm39) F310V probably damaging Het
Chsy1 T C 7: 65,820,779 (GRCm39) V338A probably benign Het
Dbh A G 2: 27,064,944 (GRCm39) E385G probably damaging Het
Dnah14 T A 1: 181,591,543 (GRCm39) probably benign Het
F2rl1 A G 13: 95,650,097 (GRCm39) S262P possibly damaging Het
Fat2 T C 11: 55,147,045 (GRCm39) N3984D probably benign Het
Fbxo38 A T 18: 62,659,234 (GRCm39) H354Q probably benign Het
Fgf6 T A 6: 127,001,095 (GRCm39) V201D probably damaging Het
Gm16181 A T 17: 35,442,933 (GRCm39) probably benign Het
Gm6811 T C 17: 21,314,311 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,771 (GRCm39) F313S probably damaging Het
Gprc6a C T 10: 51,491,968 (GRCm39) A523T probably damaging Het
Il22 T C 10: 118,041,785 (GRCm39) probably null Het
Insr T C 8: 3,308,574 (GRCm39) Y154C probably damaging Het
Irak4 T A 15: 94,449,780 (GRCm39) D86E probably benign Het
Itk C A 11: 46,225,764 (GRCm39) W529L probably damaging Het
Klhl6 C A 16: 19,765,887 (GRCm39) A572S probably benign Het
Ldhc C T 7: 46,519,112 (GRCm39) R112C probably damaging Het
Lrrc56 T C 7: 140,779,685 (GRCm39) probably benign Het
Mdh2 A G 5: 135,818,567 (GRCm39) E274G probably damaging Het
N4bp1 G T 8: 87,575,161 (GRCm39) D711E probably benign Het
Ngly1 T A 14: 16,281,866 (GRCm38) I248K probably damaging Het
Or2ab1 A G 11: 58,489,149 (GRCm39) N309S probably damaging Het
Or7e176 T C 9: 20,171,556 (GRCm39) I140T probably damaging Het
Pbrm1 A G 14: 30,829,241 (GRCm39) E1421G probably damaging Het
Pcca G A 14: 122,822,518 (GRCm39) R112H possibly damaging Het
Pgrmc2 T C 3: 41,023,061 (GRCm39) probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Pogz A T 3: 94,782,402 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,754,771 (GRCm39) Y159H probably damaging Het
Rax T C 18: 66,071,231 (GRCm39) K135E probably damaging Het
Rbm7 T A 9: 48,401,267 (GRCm39) M154L probably benign Het
Rp1 A G 1: 4,420,264 (GRCm39) S283P probably damaging Het
Rpusd4 T C 9: 35,179,273 (GRCm39) S30P probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Sfxn4 A G 19: 60,848,508 (GRCm39) W22R probably damaging Het
Sh3pxd2a T A 19: 47,412,955 (GRCm39) R43W probably damaging Het
Smc5 A G 19: 23,251,022 (GRCm39) V54A probably benign Het
Snap47 A G 11: 59,319,424 (GRCm39) I238T probably damaging Het
Tecpr2 T G 12: 110,934,267 (GRCm39) I1309S possibly damaging Het
Trappc8 A G 18: 20,953,992 (GRCm39) L1310P probably damaging Het
Vmn2r61 T A 7: 41,915,408 (GRCm39) H118Q probably benign Het
Zbtb17 C T 4: 141,194,244 (GRCm39) T731I 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
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
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 2016-08-02