Incidental Mutation 'R9024:Pogz'
ID 686404
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R9024 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94785543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 833 (N833Y)
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: N824Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: N824Y

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: N780Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: N780Y

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: N738Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: N738Y

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: N833Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: N833Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C A 3: 137,891,923 (GRCm39) A16S unknown Het
Aldh3b1 T A 19: 3,968,155 (GRCm39) I335F probably damaging Het
Asph A T 4: 9,475,025 (GRCm39) Y650N probably damaging Het
Atr T C 9: 95,789,416 (GRCm39) V1524A possibly damaging Het
Ccin A G 4: 43,983,562 (GRCm39) probably benign Het
Cdk15 A T 1: 59,326,957 (GRCm39) I213F probably damaging Het
Chfr G T 5: 110,306,698 (GRCm39) S481I probably benign Het
Coro2a T C 4: 46,542,323 (GRCm39) D350G probably benign Het
Ctps1 C A 4: 120,406,707 (GRCm39) E350* probably null Het
Dctn4 G A 18: 60,678,894 (GRCm39) probably null Het
Epha4 C A 1: 77,365,169 (GRCm39) R610L possibly damaging Het
Esp4 A T 17: 40,911,102 (GRCm39) M1L unknown Het
Fads3 T C 19: 10,033,839 (GRCm39) V408A probably damaging Het
Gm19402 T A 10: 77,525,805 (GRCm39) K263* probably null Het
Gm26657 G T 4: 56,740,769 (GRCm39) probably benign Het
Hsdl1 A G 8: 120,290,839 (GRCm39) V311A probably benign Het
Hsp90b1 A G 10: 86,541,174 (GRCm39) F16L possibly damaging Het
Icmt T C 4: 152,385,161 (GRCm39) C208R probably damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ipo7 T A 7: 109,643,943 (GRCm39) probably null Het
Kif21a T A 15: 90,821,399 (GRCm39) K1465* probably null Het
Klhl9 A T 4: 88,639,999 (GRCm39) F81I probably damaging Het
Kynu A G 2: 43,490,807 (GRCm39) H170R possibly damaging Het
Mmp12 A G 9: 7,355,444 (GRCm39) Y397C probably damaging Het
Mpped2 T C 2: 106,614,043 (GRCm39) F126L probably benign Het
Muc2 C T 7: 141,287,936 (GRCm39) P236S probably damaging Het
Myo10 A G 15: 25,793,295 (GRCm39) T1291A possibly damaging Het
Myom2 T C 8: 15,113,936 (GRCm39) L28P probably damaging Het
Nfatc2 T C 2: 168,328,648 (GRCm39) *924W probably null Het
Nrip1 G T 16: 76,088,388 (GRCm39) Y1056* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Oxr1 A G 15: 41,694,518 (GRCm39) Y20C probably damaging Het
P2ry2 T C 7: 100,647,229 (GRCm39) T359A probably damaging Het
Paxbp1 G A 16: 90,840,963 (GRCm39) R94C possibly damaging Het
Pbrm1 A G 14: 30,783,623 (GRCm39) Y569C probably damaging Het
Pkhd1 T C 1: 20,592,975 (GRCm39) T1713A probably benign Het
Plekha5 A G 6: 140,370,176 (GRCm39) S56G probably benign Het
Plekhg5 T C 4: 152,197,118 (GRCm39) I801T possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Polk G T 13: 96,623,340 (GRCm39) H501N probably benign Het
Ptprd T C 4: 75,874,567 (GRCm39) N1043S probably damaging Het
Rad18 A T 6: 112,626,562 (GRCm39) C448S probably benign Het
Rhof T A 5: 123,269,963 (GRCm39) K65* probably null Het
Rpa2 T C 4: 132,499,153 (GRCm39) V74A probably damaging Het
Smarcc1 T C 9: 110,015,001 (GRCm39) M522T probably damaging Het
Snai2 T C 16: 14,524,769 (GRCm39) S92P probably benign Het
Srrt C A 5: 137,301,291 (GRCm39) R45L unknown Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tubd1 T G 11: 86,445,991 (GRCm39) H210Q possibly damaging Het
Usp36 T C 11: 118,166,983 (GRCm39) N298S possibly damaging Het
Vmn2r63 T G 7: 42,577,874 (GRCm39) R221S probably benign Het
Vps13b A G 15: 35,923,470 (GRCm39) I3782V probably damaging Het
Zfp184 T A 13: 22,143,128 (GRCm39) I278N 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
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
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
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'- CACGGAAAAGTCCCAAGTATTTG -3'
(R):5'- GCCTTCCCAGGTTAGAATGC -3'

Sequencing Primer
(F):5'- AAGTGGTTATGTGACTTACTCCC -3'
(R):5'- CCCAGGTTAGAATGCTTATAGTCTGC -3'
Posted On 2021-10-11