Incidental Mutation 'IGL02471:Zfp12'
ID294746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp12
Ensembl Gene ENSMUSG00000029587
Gene Namezinc finger protein 12
SynonymsZfp-12, Krox-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL02471
Quality Score
Status
Chromosome5
Chromosomal Location143235163-143248834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 143244796 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 293 (G293R)
Ref Sequence ENSEMBL: ENSMUSP00000076693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032591] [ENSMUST00000075916] [ENSMUST00000077485] [ENSMUST00000161448] [ENSMUST00000162861]
Predicted Effect probably damaging
Transcript: ENSMUST00000032591
AA Change: G325R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: G325R

DomainStartEndE-ValueType
KRAB 8 68 1.98e-36 SMART
low complexity region 188 199 N/A INTRINSIC
ZnF_C2H2 263 285 4.47e-3 SMART
ZnF_C2H2 291 313 2.43e-4 SMART
ZnF_C2H2 319 341 2.61e-4 SMART
ZnF_C2H2 347 369 1.04e-3 SMART
ZnF_C2H2 375 397 6.08e-5 SMART
ZnF_C2H2 403 425 2.99e-4 SMART
ZnF_C2H2 431 453 9.08e-4 SMART
ZnF_C2H2 459 481 2.57e-3 SMART
ZnF_C2H2 487 509 6.32e-3 SMART
ZnF_C2H2 515 537 5.21e-4 SMART
ZnF_C2H2 543 565 9.44e-2 SMART
ZnF_C2H2 571 593 1.72e-4 SMART
ZnF_C2H2 599 621 2.86e-1 SMART
ZnF_C2H2 627 649 3.63e-3 SMART
ZnF_C2H2 655 677 4.54e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075916
SMART Domains Protein: ENSMUSP00000137971
Gene: ENSMUSG00000029587

DomainStartEndE-ValueType
KRAB 8 67 6.65e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077485
AA Change: G293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: G293R

DomainStartEndE-ValueType
KRAB 8 68 8.91e-21 SMART
low complexity region 156 167 N/A INTRINSIC
Pfam:zf-C2H2_6 183 200 8.8e-1 PFAM
ZnF_C2H2 231 253 4.47e-3 SMART
ZnF_C2H2 259 281 2.43e-4 SMART
ZnF_C2H2 287 309 2.61e-4 SMART
ZnF_C2H2 315 337 1.04e-3 SMART
ZnF_C2H2 343 365 6.08e-5 SMART
ZnF_C2H2 371 393 2.99e-4 SMART
ZnF_C2H2 399 421 9.08e-4 SMART
ZnF_C2H2 427 449 2.57e-3 SMART
ZnF_C2H2 455 477 6.32e-3 SMART
ZnF_C2H2 483 505 5.21e-4 SMART
ZnF_C2H2 511 533 9.44e-2 SMART
ZnF_C2H2 539 561 1.72e-4 SMART
ZnF_C2H2 567 589 2.86e-1 SMART
ZnF_C2H2 595 617 3.63e-3 SMART
ZnF_C2H2 623 645 4.54e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160195
Predicted Effect probably benign
Transcript: ENSMUST00000161448
SMART Domains Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658

DomainStartEndE-ValueType
low complexity region 30 68 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 134 147 N/A INTRINSIC
KRAB 155 215 4.31e-37 SMART
low complexity region 239 262 N/A INTRINSIC
ZnF_C2H2 341 363 1.58e-3 SMART
ZnF_C2H2 369 391 1.45e-2 SMART
ZnF_C2H2 397 419 6.88e-4 SMART
ZnF_C2H2 425 447 3.63e-3 SMART
ZnF_C2H2 453 475 1.2e-3 SMART
ZnF_C2H2 481 501 2.17e1 SMART
low complexity region 524 558 N/A INTRINSIC
low complexity region 568 584 N/A INTRINSIC
low complexity region 649 664 N/A INTRINSIC
low complexity region 691 707 N/A INTRINSIC
ZnF_C2H2 708 730 1.2e-3 SMART
ZnF_C2H2 736 758 3.58e-2 SMART
ZnF_C2H2 764 786 1.45e-2 SMART
ZnF_C2H2 792 814 1.99e0 SMART
ZnF_C2H2 820 842 2.82e0 SMART
ZnF_C2H2 848 870 7.9e-4 SMART
ZnF_C2H2 876 898 1.45e-2 SMART
ZnF_C2H2 904 926 9.88e-5 SMART
ZnF_C2H2 932 954 2.09e-3 SMART
low complexity region 964 990 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162861
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 is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,258,198 H2378N probably benign Het
Btaf1 C A 19: 37,000,192 A1470E probably damaging Het
Ccdc110 A G 8: 45,941,756 D228G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn18 T C 9: 99,696,075 D205G probably benign Het
Clip2 T C 5: 134,518,022 T231A probably benign Het
Cltc A G 11: 86,718,034 V723A probably damaging Het
Cpa3 C T 3: 20,228,807 probably null Het
Cyfip2 T G 11: 46,200,803 T1097P possibly damaging Het
Dnah9 T A 11: 65,947,618 R667* probably null Het
Dock10 T C 1: 80,515,622 E1878G probably damaging Het
Ermap G A 4: 119,179,963 H353Y probably damaging Het
Etfa A T 9: 55,486,700 probably null Het
F5 C T 1: 164,174,291 P188S probably damaging Het
Foxq1 G A 13: 31,559,343 E143K possibly damaging Het
Gsr C T 8: 33,682,584 probably benign Het
Hebp1 T A 6: 135,155,276 Y31F probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Lamb1 T A 12: 31,320,908 D1319E probably damaging Het
Lrp5 A T 19: 3,602,408 V1154E probably benign Het
Manba G A 3: 135,507,008 probably benign Het
Mknk2 A T 10: 80,668,121 F319I probably damaging Het
Mup6 A T 4: 60,003,971 probably benign Het
Nalcn T C 14: 123,323,314 T784A probably benign Het
Nt5dc1 T C 10: 34,403,725 E107G probably benign Het
Olfr1497 G A 19: 13,795,225 P129S probably damaging Het
Olfr688 T A 7: 105,289,045 F317L probably benign Het
Olfr745 A T 14: 50,642,757 I159F probably benign Het
Phldb1 T C 9: 44,711,233 E41G probably damaging Het
Ptk2 T C 15: 73,298,187 D309G probably benign Het
Rab11fip5 A G 6: 85,348,225 S367P probably damaging Het
Rb1cc1 T A 1: 6,240,051 N224K probably benign Het
Rchy1 A T 5: 91,957,546 C65* probably null Het
Rgs18 T C 1: 144,774,621 D56G probably benign Het
Rtraf A C 14: 19,812,228 L197R probably damaging Het
Slc44a5 G T 3: 154,256,576 W382L probably damaging Het
Snx24 C T 18: 53,385,169 probably benign Het
Sphkap T C 1: 83,276,176 D1284G probably damaging Het
Tmem54 A G 4: 129,108,318 M53V probably benign Het
Trip6 G A 5: 137,310,356 P414S probably benign Het
Vmn1r38 A G 6: 66,776,767 Y122H probably benign Het
Wapl T A 14: 34,691,920 N246K possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp446 T G 7: 12,982,254 V209G probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Zfp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02870:Zfp12 APN 5 143245331 missense probably damaging 0.99
IGL02975:Zfp12 APN 5 143244059 unclassified probably benign
R0362:Zfp12 UTSW 5 143245223 missense probably damaging 0.97
R0723:Zfp12 UTSW 5 143244883 missense probably damaging 1.00
R1104:Zfp12 UTSW 5 143245745 missense probably damaging 1.00
R1403:Zfp12 UTSW 5 143244780 nonsense probably null
R1403:Zfp12 UTSW 5 143244780 nonsense probably null
R1774:Zfp12 UTSW 5 143245229 missense probably damaging 1.00
R1895:Zfp12 UTSW 5 143245378 missense probably damaging 1.00
R1946:Zfp12 UTSW 5 143245378 missense probably damaging 1.00
R2280:Zfp12 UTSW 5 143245493 missense probably damaging 0.99
R3824:Zfp12 UTSW 5 143240322 missense probably benign 0.12
R4772:Zfp12 UTSW 5 143240000 missense probably damaging 1.00
R4786:Zfp12 UTSW 5 143245502 missense probably damaging 0.99
R5255:Zfp12 UTSW 5 143240379 missense probably null 0.08
R5496:Zfp12 UTSW 5 143244795 nonsense probably null
R5542:Zfp12 UTSW 5 143244485 missense possibly damaging 0.75
R5637:Zfp12 UTSW 5 143245696 missense probably damaging 1.00
R5742:Zfp12 UTSW 5 143245190 missense probably damaging 1.00
R5907:Zfp12 UTSW 5 143239988 missense probably damaging 1.00
R6701:Zfp12 UTSW 5 143244464 missense probably benign 0.21
R7166:Zfp12 UTSW 5 143245502 missense possibly damaging 0.85
R7188:Zfp12 UTSW 5 143239994 missense probably damaging 0.99
R7285:Zfp12 UTSW 5 143244689 missense probably damaging 1.00
Posted On2015-04-16