Incidental Mutation 'R2139:Pogz'
ID 236026
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 040142-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R2139 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94778318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000102890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
AlphaFold Q8BZH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000042402
AA Change: V390A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: V390A

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 possibly damaging
Transcript: ENSMUST00000107266
AA Change: V346A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: V346A

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 possibly damaging
Transcript: ENSMUST00000107269
AA Change: V304A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: V304A

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 possibly damaging
Transcript: ENSMUST00000107270
AA Change: V399A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: V399A

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 noncoding transcript
Transcript: ENSMUST00000126235
Predicted Effect probably benign
Transcript: ENSMUST00000140397
SMART Domains Protein: ENSMUSP00000122492
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 31 38 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,215,593 (GRCm39) F318I probably damaging Het
Bfsp2 T C 9: 103,327,074 (GRCm39) K221R probably benign Het
Cacna1b A C 2: 24,569,485 (GRCm39) M813R probably benign Het
Chaf1a T C 17: 56,372,226 (GRCm39) L798P probably damaging Het
Chd8 G A 14: 52,474,428 (GRCm39) T201I probably benign Het
Col23a1 T C 11: 51,464,861 (GRCm39) S436P probably benign Het
Cubn T C 2: 13,340,978 (GRCm39) I2248V probably benign Het
Cyp4f39 A G 17: 32,710,163 (GRCm39) I440M probably benign Het
Dhcr24 G T 4: 106,429,499 (GRCm39) E191* probably null Het
Dlg5 T C 14: 24,220,612 (GRCm39) D522G probably damaging Het
Dnaja4 A T 9: 54,616,506 (GRCm39) M170L probably benign Het
Dop1b T C 16: 93,567,895 (GRCm39) S1441P possibly damaging Het
Efcab3 C T 11: 104,642,737 (GRCm39) T1120I possibly damaging Het
Egr2 T A 10: 67,376,702 (GRCm39) S383T probably damaging Het
Elovl1 A G 4: 118,288,303 (GRCm39) D94G probably damaging Het
Erbb4 A G 1: 68,385,788 (GRCm39) V267A probably damaging Het
Esp38 T A 17: 40,264,275 (GRCm39) I11N probably damaging Het
Esrrb T C 12: 86,468,740 (GRCm39) probably null Het
Fbxo24 A T 5: 137,611,327 (GRCm39) S488T probably damaging Het
Fgfr1 T G 8: 26,060,882 (GRCm39) V618G probably damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Gpr61 A T 3: 108,058,077 (GRCm39) C195S probably damaging Het
Greb1l A C 18: 10,555,011 (GRCm39) N1686H probably damaging Het
Hapln4 T C 8: 70,540,788 (GRCm39) F274L probably benign Het
Hoxc10 A T 15: 102,875,912 (GRCm39) Q207L probably benign Het
Hspa12a A G 19: 58,787,914 (GRCm39) V636A probably benign Het
Il22ra2 T A 10: 19,508,618 (GRCm39) F215L probably benign Het
Il36b A G 2: 24,044,672 (GRCm39) N24S probably benign Het
Kank1 G A 19: 25,389,117 (GRCm39) G930D probably benign Het
Kif13a T C 13: 46,905,945 (GRCm39) D666G possibly damaging Het
Krt86 A T 15: 101,371,639 (GRCm39) I70F probably benign Het
Lgi4 A T 7: 30,762,548 (GRCm39) I112F probably damaging Het
Lrrc8c T G 5: 105,754,558 (GRCm39) I111S probably damaging Het
Ltbp2 T C 12: 84,862,753 (GRCm39) N600S probably damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Mroh5 T A 15: 73,661,940 (GRCm39) D417V probably damaging Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Mtarc1 G A 1: 184,527,632 (GRCm39) T276I probably benign Het
Muc4 T A 16: 32,581,599 (GRCm39) I2488N unknown Het
Myrf C G 19: 10,193,831 (GRCm39) A532P probably damaging Het
Nav3 T C 10: 109,688,996 (GRCm39) N427S probably benign Het
Neb T C 2: 52,102,600 (GRCm39) S4315G probably damaging Het
Nyap2 A G 1: 81,218,983 (GRCm39) D335G probably damaging Het
Olfm4 T C 14: 80,251,755 (GRCm39) L225P probably benign Het
Or10z1 A T 1: 174,078,302 (GRCm39) probably null Het
Or4c104 T A 2: 88,586,437 (GRCm39) N194I probably damaging Het
Or51ac3 A T 7: 103,213,961 (GRCm39) I175K possibly damaging Het
Or8s2 T C 15: 98,276,145 (GRCm39) N282S probably damaging Het
Pcdhac2 T G 18: 37,279,139 (GRCm39) Y706* probably null Het
Pgbd1 A G 13: 21,607,190 (GRCm39) S335P probably damaging Het
Pkhd1l1 A C 15: 44,393,214 (GRCm39) I1850L possibly damaging Het
Rap1a T C 3: 105,646,856 (GRCm39) I100V probably damaging Het
Slc4a4 A T 5: 89,194,123 (GRCm39) K201M probably damaging Het
Slc6a1 T C 6: 114,281,022 (GRCm39) F8S possibly damaging Het
St18 T G 1: 6,880,839 (GRCm39) M444R possibly damaging Het
Syna G T 5: 134,588,106 (GRCm39) S281* probably null Het
Tgm1 A G 14: 55,947,000 (GRCm39) V336A probably damaging Het
Tle6 G T 10: 81,429,868 (GRCm39) T400K probably damaging Het
Tmem181a T C 17: 6,348,481 (GRCm39) W328R probably damaging Het
Trim7 T C 11: 48,729,721 (GRCm39) F193L probably benign Het
Txndc16 A T 14: 45,410,046 (GRCm39) M178K probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn1r74 A G 7: 11,581,243 (GRCm39) Y181C probably damaging Het
Vmn2r56 T A 7: 12,446,890 (GRCm39) K421* probably null Het
Vwa7 T G 17: 35,242,406 (GRCm39) S503R probably benign Het
Washc5 G A 15: 59,221,991 (GRCm39) T135M probably damaging Het
Wdr6 T C 9: 108,451,322 (GRCm39) I854V probably benign Het
Zfp507 A G 7: 35,493,148 (GRCm39) C632R probably damaging Het
Other mutations in Pogz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Pogz APN 3 94,782,014 (GRCm39) unclassified probably benign
IGL02225:Pogz APN 3 94,786,327 (GRCm39) missense probably damaging 0.99
IGL02377:Pogz APN 3 94,786,321 (GRCm39) missense probably damaging 1.00
IGL02468:Pogz APN 3 94,786,394 (GRCm39) missense probably damaging 0.97
IGL02672:Pogz APN 3 94,763,410 (GRCm39) missense probably benign 0.08
IGL03290:Pogz APN 3 94,782,402 (GRCm39) unclassified probably benign
FR4976:Pogz UTSW 3 94,782,006 (GRCm39) unclassified probably benign
PIT4382001:Pogz UTSW 3 94,787,107 (GRCm39) missense probably damaging 1.00
PIT4434001:Pogz UTSW 3 94,779,681 (GRCm39) missense probably damaging 1.00
R0326:Pogz UTSW 3 94,777,424 (GRCm39) missense probably damaging 1.00
R0401:Pogz UTSW 3 94,784,336 (GRCm39) missense possibly damaging 0.81
R0479:Pogz UTSW 3 94,783,947 (GRCm39) missense possibly damaging 0.92
R0586:Pogz UTSW 3 94,786,664 (GRCm39) missense probably damaging 1.00
R1349:Pogz UTSW 3 94,768,199 (GRCm39) missense probably damaging 1.00
R1372:Pogz UTSW 3 94,768,199 (GRCm39) missense probably damaging 1.00
R1670:Pogz UTSW 3 94,786,160 (GRCm39) missense probably benign 0.21
R1780:Pogz UTSW 3 94,777,437 (GRCm39) missense possibly damaging 0.54
R1854:Pogz UTSW 3 94,786,160 (GRCm39) missense probably benign 0.21
R1855:Pogz UTSW 3 94,786,160 (GRCm39) missense probably benign 0.21
R1964:Pogz UTSW 3 94,785,504 (GRCm39) missense probably benign 0.36
R1995:Pogz UTSW 3 94,785,255 (GRCm39) missense probably damaging 1.00
R2109:Pogz UTSW 3 94,786,276 (GRCm39) missense probably benign
R4457:Pogz UTSW 3 94,763,374 (GRCm39) missense probably benign 0.14
R4598:Pogz UTSW 3 94,787,491 (GRCm39) missense possibly damaging 0.52
R5598:Pogz UTSW 3 94,771,820 (GRCm39) missense probably damaging 1.00
R5999:Pogz UTSW 3 94,763,428 (GRCm39) missense possibly damaging 0.77
R6104:Pogz UTSW 3 94,787,342 (GRCm39) missense probably benign 0.09
R7017:Pogz UTSW 3 94,761,335 (GRCm39) missense probably damaging 0.99
R7632:Pogz UTSW 3 94,763,517 (GRCm39) splice site probably null
R7788:Pogz UTSW 3 94,782,544 (GRCm39) missense probably damaging 0.99
R7810:Pogz UTSW 3 94,777,418 (GRCm39) missense probably benign 0.00
R8396:Pogz UTSW 3 94,786,061 (GRCm39) missense probably benign 0.00
R8681:Pogz UTSW 3 94,768,234 (GRCm39) missense probably damaging 1.00
R8981:Pogz UTSW 3 94,786,226 (GRCm39) missense probably damaging 0.96
R8982:Pogz UTSW 3 94,786,879 (GRCm39) missense probably damaging 1.00
R9024:Pogz UTSW 3 94,785,543 (GRCm39) missense probably damaging 1.00
R9056:Pogz UTSW 3 94,787,530 (GRCm39) missense probably benign 0.02
R9316:Pogz UTSW 3 94,784,659 (GRCm39) missense probably damaging 1.00
RF014:Pogz UTSW 3 94,785,558 (GRCm39) missense possibly damaging 0.77
Z1088:Pogz UTSW 3 94,786,387 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGGGCTACTGAAGGAAAC -3'
(R):5'- GGACAGCATCTCCAGCATTC -3'

Sequencing Primer
(F):5'- TTGTGAACCAGTGGCCTAGC -3'
(R):5'- GACAGCATCTCCAGCATTCTCATTTG -3'
Posted On 2014-10-01