Incidental Mutation 'IGL03290:Pogz'
ID415890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Namepogo transposable element with ZNF domain
Synonyms9530006B08Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.736) question?
Stock #IGL03290
Quality Score
Status
Chromosome3
Chromosomal Location94837567-94882326 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 94875091 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
Predicted Effect probably benign
Transcript: ENSMUST00000042402
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 239 266 N/A INTRINSIC
low complexity region 328 335 N/A INTRINSIC
PDB:2E72|A 362 393 5e-16 PDB
low complexity region 401 436 N/A INTRINSIC
ZnF_C2H2 482 504 1.64e-1 SMART
ZnF_C2H2 518 541 5.34e0 SMART
ZnF_C2H2 548 571 4.79e-3 SMART
ZnF_C2H2 578 601 9.3e-1 SMART
ZnF_C2H2 607 629 3.34e-2 SMART
ZnF_C2H2 635 657 1.13e1 SMART
ZnF_C2H2 758 781 9.46e0 SMART
ZnF_C2H2 802 827 5.26e1 SMART
low complexity region 896 915 N/A INTRINSIC
low complexity region 946 955 N/A INTRINSIC
low complexity region 984 996 N/A INTRINSIC
CENPB 1008 1072 3.84e-15 SMART
Pfam:DDE_1 1104 1289 3.3e-22 PFAM
low complexity region 1355 1365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107266
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 186 213 N/A INTRINSIC
low complexity region 284 291 N/A INTRINSIC
PDB:2E72|A 318 349 6e-16 PDB
low complexity region 357 392 N/A INTRINSIC
ZnF_C2H2 438 460 1.64e-1 SMART
ZnF_C2H2 474 497 5.34e0 SMART
ZnF_C2H2 504 527 4.79e-3 SMART
ZnF_C2H2 534 557 9.3e-1 SMART
ZnF_C2H2 563 585 3.34e-2 SMART
ZnF_C2H2 591 613 1.13e1 SMART
ZnF_C2H2 714 737 9.46e0 SMART
ZnF_C2H2 758 783 5.26e1 SMART
low complexity region 852 871 N/A INTRINSIC
low complexity region 902 911 N/A INTRINSIC
low complexity region 940 952 N/A INTRINSIC
CENPB 964 1028 3.84e-15 SMART
Pfam:DDE_1 1060 1245 1.1e-22 PFAM
low complexity region 1311 1321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107269
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 144 171 N/A INTRINSIC
low complexity region 242 249 N/A INTRINSIC
PDB:2E72|A 276 307 5e-16 PDB
low complexity region 315 350 N/A INTRINSIC
ZnF_C2H2 396 418 1.64e-1 SMART
ZnF_C2H2 432 455 5.34e0 SMART
ZnF_C2H2 462 485 4.79e-3 SMART
ZnF_C2H2 492 515 9.3e-1 SMART
ZnF_C2H2 521 543 3.34e-2 SMART
ZnF_C2H2 549 571 1.13e1 SMART
ZnF_C2H2 672 695 9.46e0 SMART
ZnF_C2H2 716 741 5.26e1 SMART
low complexity region 810 829 N/A INTRINSIC
low complexity region 860 869 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
CENPB 922 986 3.84e-15 SMART
Pfam:DDE_1 1018 1203 1.1e-22 PFAM
low complexity region 1269 1279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107270
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 239 266 N/A INTRINSIC
low complexity region 337 344 N/A INTRINSIC
PDB:2E72|A 371 402 5e-16 PDB
low complexity region 410 445 N/A INTRINSIC
ZnF_C2H2 491 513 1.64e-1 SMART
ZnF_C2H2 527 550 5.34e0 SMART
ZnF_C2H2 557 580 4.79e-3 SMART
ZnF_C2H2 587 610 9.3e-1 SMART
ZnF_C2H2 616 638 3.34e-2 SMART
ZnF_C2H2 644 666 1.13e1 SMART
ZnF_C2H2 767 790 9.46e0 SMART
ZnF_C2H2 811 836 5.26e1 SMART
low complexity region 905 924 N/A INTRINSIC
low complexity region 955 964 N/A INTRINSIC
low complexity region 993 1005 N/A INTRINSIC
CENPB 1017 1081 3.84e-15 SMART
Pfam:DDE_1 1150 1298 1.5e-18 PFAM
low complexity region 1364 1374 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125638
Predicted Effect probably benign
Transcript: ENSMUST00000140397
SMART Domains Protein: ENSMUSP00000122492
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 31 38 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142253
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Chsy1 T C 7: 66,171,031 V338A probably benign Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gna11 A G 10: 81,530,937 F313S probably damaging Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Irak4 T A 15: 94,551,899 D86E probably benign Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr324 A G 11: 58,598,323 N309S probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pcca G A 14: 122,585,106 R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging Het
Other mutations in Pogz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Pogz APN 3 94874703 unclassified probably benign
IGL02225:Pogz APN 3 94879016 missense probably damaging 0.99
IGL02377:Pogz APN 3 94879010 missense probably damaging 1.00
IGL02468:Pogz APN 3 94879083 missense probably damaging 0.97
IGL02672:Pogz APN 3 94856099 missense probably benign 0.08
FR4976:Pogz UTSW 3 94874695 unclassified probably benign
PIT4382001:Pogz UTSW 3 94879796 missense probably damaging 1.00
PIT4434001:Pogz UTSW 3 94872370 missense probably damaging 1.00
R0326:Pogz UTSW 3 94870113 missense probably damaging 1.00
R0401:Pogz UTSW 3 94877025 missense possibly damaging 0.81
R0479:Pogz UTSW 3 94876636 missense possibly damaging 0.92
R0586:Pogz UTSW 3 94879353 missense probably damaging 1.00
R1349:Pogz UTSW 3 94860888 missense probably damaging 1.00
R1372:Pogz UTSW 3 94860888 missense probably damaging 1.00
R1670:Pogz UTSW 3 94878849 missense probably benign 0.21
R1780:Pogz UTSW 3 94870126 missense possibly damaging 0.54
R1854:Pogz UTSW 3 94878849 missense probably benign 0.21
R1855:Pogz UTSW 3 94878849 missense probably benign 0.21
R1964:Pogz UTSW 3 94878193 missense probably benign 0.36
R1995:Pogz UTSW 3 94877944 missense probably damaging 1.00
R2109:Pogz UTSW 3 94878965 missense probably benign
R2139:Pogz UTSW 3 94871007 missense possibly damaging 0.95
R4457:Pogz UTSW 3 94856063 missense probably benign 0.14
R4598:Pogz UTSW 3 94880180 missense possibly damaging 0.52
R5598:Pogz UTSW 3 94864509 missense probably damaging 1.00
R5999:Pogz UTSW 3 94856117 missense possibly damaging 0.77
R6104:Pogz UTSW 3 94880031 missense probably benign 0.09
R7017:Pogz UTSW 3 94854024 missense probably damaging 0.99
R7632:Pogz UTSW 3 94856206 splice site probably null
R7788:Pogz UTSW 3 94875233 missense probably damaging 0.99
R7810:Pogz UTSW 3 94870107 missense probably benign 0.00
R8396:Pogz UTSW 3 94878750 missense probably benign 0.00
RF014:Pogz UTSW 3 94878247 missense possibly damaging 0.77
Z1088:Pogz UTSW 3 94879076 missense probably damaging 1.00
Posted On2016-08-02