Incidental Mutation 'R8681:Pogz'
ID 661729
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 068536-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R8681 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94768234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 137 (H137Q)
Ref Sequence ENSEMBL: ENSMUSP00000102891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
AlphaFold Q8BZH4
Predicted Effect probably damaging
Transcript: ENSMUST00000042402
AA Change: H137Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: H137Q

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: H84Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: H84Q

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 damaging
Transcript: ENSMUST00000107270
AA Change: H137Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: H137Q

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 probably benign
Transcript: ENSMUST00000140397
SMART Domains Protein: ENSMUSP00000122492
Gene: ENSMUSG00000038902

DomainStartEndE-ValueType
low complexity region 31 38 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,231,908 (GRCm39) V1347A possibly damaging Het
Adam32 G A 8: 25,327,811 (GRCm39) T750I unknown Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Aebp1 A G 11: 5,817,899 (GRCm39) D438G probably null Het
Anks1b T A 10: 89,885,868 (GRCm39) M188K probably damaging Het
Aopep T C 13: 63,338,373 (GRCm39) F583S probably damaging Het
Arhgef18 A G 8: 3,439,074 (GRCm39) Y477C unknown Het
Cep112 T C 11: 108,316,478 (GRCm39) probably null Het
Clu T C 14: 66,218,406 (GRCm39) V422A probably damaging Het
Cntrl T C 2: 35,038,600 (GRCm39) L1050P probably damaging Het
Col23a1 A T 11: 51,458,756 (GRCm39) T298S possibly damaging Het
Cyp26c1 A T 19: 37,675,065 (GRCm39) T129S probably damaging Het
Cyp2c38 A C 19: 39,390,135 (GRCm39) V355G possibly damaging Het
Cyp4a30b G A 4: 115,314,942 (GRCm39) V175M possibly damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Dcaf17 T A 2: 70,886,913 (GRCm39) Y67* probably null Het
Dll3 T C 7: 27,994,270 (GRCm39) D389G probably damaging Het
Fbxo33 A G 12: 59,265,830 (GRCm39) F146L probably benign Het
Gm10118 C T 10: 63,762,756 (GRCm39) V61M unknown Het
Gm9611 T C 14: 42,118,026 (GRCm39) D102G Het
Grik5 G A 7: 24,709,897 (GRCm39) A946V probably benign Het
Il17c A G 8: 123,150,207 (GRCm39) D150G possibly damaging Het
Ino80e A G 7: 126,460,893 (GRCm39) L22P probably damaging Het
Kcnh2 G T 5: 24,536,981 (GRCm39) T201K probably benign Het
Klrb1 A C 6: 128,687,012 (GRCm39) N173K possibly damaging Het
Kmt2d T A 15: 98,743,948 (GRCm39) Q3737H unknown Het
Lemd3 T C 10: 120,767,728 (GRCm39) D682G possibly damaging Het
Lilra5 T C 7: 4,241,216 (GRCm39) V51A probably benign Het
Lrrc25 G A 8: 71,070,314 (GRCm39) V32I possibly damaging Het
Mdh1b T A 1: 63,754,360 (GRCm39) M403L probably benign Het
Mms19 G A 19: 41,937,915 (GRCm39) L765F probably damaging Het
Msx3 T A 7: 139,628,900 (GRCm39) T5S probably benign Het
Myh13 A C 11: 67,242,960 (GRCm39) I958L possibly damaging Het
Myo18b T A 5: 113,021,429 (GRCm39) probably null Het
Myo9a G A 9: 59,775,394 (GRCm39) V1002I probably benign Het
Neb T C 2: 52,127,048 (GRCm39) K379R probably damaging Het
Nsmce2 A G 15: 59,473,208 (GRCm39) S216G probably benign Het
Odad1 A G 7: 45,591,263 (GRCm39) E246G probably damaging Het
Or11h7 A T 14: 50,890,801 (GRCm39) M36L probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pkp2 A T 16: 16,048,545 (GRCm39) M317L probably benign Het
Prrx2 G T 2: 30,735,519 (GRCm39) D25Y unknown Het
Ptprf T C 4: 118,088,844 (GRCm39) D653G probably benign Het
Rps6kl1 T A 12: 85,194,629 (GRCm39) E94V probably damaging Het
Slc44a1 A T 4: 53,481,510 (GRCm39) D27V probably damaging Het
Slc44a4 A G 17: 35,147,253 (GRCm39) I549V possibly damaging Het
Slc8a3 T C 12: 81,361,914 (GRCm39) T302A probably benign Het
Spic T A 10: 88,511,847 (GRCm39) K136N possibly damaging Het
Stk36 T C 1: 74,661,392 (GRCm39) L473P probably damaging Het
Syce1 G A 7: 140,361,987 (GRCm39) T32I possibly damaging Het
Tars2 G A 3: 95,658,199 (GRCm39) Q209* probably null Het
Tmem9b A G 7: 109,344,527 (GRCm39) V100A probably benign Het
Vmn1r67 A G 7: 10,181,128 (GRCm39) I131V probably benign Het
Vmn2r26 C T 6: 124,001,877 (GRCm39) T54I probably benign Het
Zfp142 T C 1: 74,610,747 (GRCm39) E1016G probably damaging Het
Zfp773 T C 7: 7,139,482 (GRCm39) T56A possibly 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
R2139:Pogz UTSW 3 94,778,318 (GRCm39) missense possibly damaging 0.95
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
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'- TCTGAGACACTGTTTCTTAGCTG -3'
(R):5'- CAGGATCCCGTGAAACAGTC -3'

Sequencing Primer
(F):5'- GTTTCTAACATCCCTTTCTTGTTCTG -3'
(R):5'- GATCCCGTGAAACAGTCCAGAG -3'
Posted On 2021-03-08