Incidental Mutation 'IGL02377:Pogz'
ID291162
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? Probably essential (E-score: 0.768) question?
Stock #IGL02377
Quality Score
Status
Chromosome3
Chromosomal Location94837567-94882326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94879010 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 970 (S970P)
Ref Sequence ENSEMBL: ENSMUSP00000102891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
Predicted Effect probably damaging
Transcript: ENSMUST00000042402
AA Change: S961P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: S961P

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 damaging
Transcript: ENSMUST00000107266
AA Change: S917P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: S917P

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 damaging
Transcript: ENSMUST00000107269
AA Change: S875P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: S875P

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 damaging
Transcript: ENSMUST00000107270
AA Change: S970P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: S970P

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: 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578C19Rik T A X: 18,447,691 I131F possibly damaging Het
4931423N10Rik T C 2: 23,212,655 probably benign Het
Aatk A T 11: 120,046,863 probably benign Het
Abca15 T C 7: 120,365,910 probably benign Het
App T C 16: 85,082,831 Q138R probably benign Het
Asah2 T A 19: 32,009,414 I529F probably benign Het
Atp8b3 A G 10: 80,520,294 S1195P probably benign Het
Brca1 A G 11: 101,524,323 M134T probably benign Het
Cacna1s T C 1: 136,068,994 L111P probably damaging Het
Capns2 A T 8: 92,901,587 N35Y probably benign Het
Ccne1 A G 7: 38,098,990 probably null Het
Csf1r G T 18: 61,124,468 probably benign Het
Dlg3 A T X: 100,773,401 Y326F possibly damaging Het
Dnah8 T C 17: 30,794,796 V3837A probably damaging Het
Dock10 A G 1: 80,584,994 probably null Het
Emg1 A G 6: 124,704,657 V208A probably benign Het
Eml6 T A 11: 29,777,282 D1280V probably damaging Het
Ep400 T C 5: 110,720,825 D911G unknown Het
Fam171a1 T C 2: 3,223,586 probably null Het
Fcgbp T C 7: 28,106,970 V2121A possibly damaging Het
Fggy G A 4: 95,623,477 probably benign Het
Fignl1 G T 11: 11,802,845 T70K possibly damaging Het
Fndc3b T C 3: 27,620,652 E47G probably damaging Het
Frmd4a A G 2: 4,534,574 K189E possibly damaging Het
Hpse T A 5: 100,691,333 Y383F probably damaging Het
Ip6k2 T C 9: 108,804,599 L197P probably damaging Het
Klf1 A C 8: 84,904,932 H375P probably damaging Het
Krtap6-5 T A 16: 89,047,846 probably benign Het
Lacc1 A T 14: 77,029,615 S403T probably damaging Het
Lama3 A G 18: 12,556,750 I2850V possibly damaging Het
Lats2 C T 14: 57,691,595 R941Q probably damaging Het
Lgals3bp A T 11: 118,393,464 Y430N probably benign Het
Lrig3 A T 10: 126,014,874 H1103L probably benign Het
Lrrc40 G A 3: 158,036,728 M1I probably null Het
Maats1 G T 16: 38,332,819 probably benign Het
Magee2 A T X: 104,856,793 V84D possibly damaging Het
Msantd2 G A 9: 37,523,306 V281I possibly damaging Het
Mycbpap A G 11: 94,503,250 V340A probably damaging Het
Myh6 A T 14: 54,944,318 M1842K probably benign Het
Mylk4 T C 13: 32,722,147 D145G possibly damaging Het
Nfkbid C T 7: 30,425,264 Q160* probably null Het
Olfr1133 T A 2: 87,645,286 Y279F probably damaging Het
Olfr1389 A T 11: 49,431,032 K185N probably damaging Het
Olfr1497 T G 19: 13,795,329 Q94P possibly damaging Het
Olfr251 A T 9: 38,378,246 T122S probably damaging Het
Olfr745 T A 14: 50,642,518 probably null Het
Olfr859 C T 9: 19,809,047 S243F probably damaging Het
Pdgfrb A C 18: 61,080,332 Q916P probably damaging Het
Pex14 T C 4: 148,966,286 Q174R probably benign Het
Rabggta A G 14: 55,718,495 V165A possibly damaging Het
Rdh10 G A 1: 16,106,214 W66* probably null Het
Ripor2 T A 13: 24,695,566 probably benign Het
Slc35g1 T A 19: 38,403,230 M320K possibly damaging Het
Slc9a7 A G X: 20,202,724 Y197H probably damaging Het
Smn1 T C 13: 100,135,684 probably benign Het
Spam1 G A 6: 24,796,697 G216S probably damaging Het
Spata31 A T 13: 64,920,380 N114I probably damaging Het
Sptbn1 A T 11: 30,119,491 V1615D possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc2 T A X: 41,825,478 Q1005H possibly damaging Het
Thra G A 11: 98,761,916 R189Q probably damaging Het
Trappc11 A T 8: 47,530,650 probably null Het
Vps13d G T 4: 145,156,364 H886Q probably damaging Het
Zfp157 G A 5: 138,447,597 W71* probably null 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
IGL02468:Pogz APN 3 94879083 missense probably damaging 0.97
IGL02672:Pogz APN 3 94856099 missense probably benign 0.08
IGL03290:Pogz APN 3 94875091 unclassified probably benign
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
Z1088:Pogz UTSW 3 94879076 missense probably damaging 1.00
Posted On2015-04-16