Incidental Mutation 'R7017:Pogz'
ID 545361
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 045118-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R7017 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94761335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 25 (I25T)
Ref Sequence ENSEMBL: ENSMUSP00000102890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
AlphaFold Q8BZH4
Predicted Effect probably damaging
Transcript: ENSMUST00000042402
AA Change: I25T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: I25T

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: I25T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: I25T

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: I25T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: I25T

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: I25T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: I25T

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A G 17: 37,288,926 (GRCm39) probably benign Het
Acot3 A T 12: 84,100,077 (GRCm39) probably benign Het
Add3 T A 19: 53,222,284 (GRCm39) V297E possibly damaging Het
Arfgap1 C G 2: 180,618,097 (GRCm39) probably null Het
Cacna1i T C 15: 80,264,671 (GRCm39) F1500L probably damaging Het
Cacna1s T C 1: 136,023,596 (GRCm39) I945T probably damaging Het
Ccdc180 T A 4: 45,940,934 (GRCm39) N1334K possibly damaging Het
Cd5l C A 3: 87,273,368 (GRCm39) Y112* probably null Het
Cracd GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GAGACAACGCGAGGCCGAGAGGCAGG 5: 77,004,795 (GRCm39) probably benign Het
Cyp2d40 A T 15: 82,644,234 (GRCm39) F297Y unknown Het
Ddx4 C T 13: 112,738,022 (GRCm39) V546I probably damaging Het
Dgkg T C 16: 22,391,463 (GRCm39) M332V probably benign Het
Dnah12 T C 14: 26,456,835 (GRCm39) I867T probably benign Het
Dnah2 T A 11: 69,382,373 (GRCm39) K1246* probably null Het
Drd2 G A 9: 49,312,129 (GRCm39) V161I probably benign Het
Dsp A G 13: 38,370,683 (GRCm39) D862G probably benign Het
Ephx4 T C 5: 107,553,980 (GRCm39) F10S probably damaging Het
Fabp9 C A 3: 10,259,756 (GRCm39) A76S possibly damaging Het
Fat4 G A 3: 38,945,692 (GRCm39) M1528I probably benign Het
Fbxl12 A G 9: 20,529,616 (GRCm39) S84P unknown Het
Fbxo40 T C 16: 36,790,732 (GRCm39) D126G probably damaging Het
Fpr1 C T 17: 18,097,654 (GRCm39) V112I probably benign Het
Frem2 T C 3: 53,427,023 (GRCm39) N2975S probably benign Het
Gask1a T C 9: 121,795,052 (GRCm39) probably null Het
Gm7945 T C 14: 41,105,610 (GRCm39) Y156C Het
Gnpat T C 8: 125,590,014 (GRCm39) V13A probably benign Het
Gpx5 G A 13: 21,475,561 (GRCm39) P55L probably damaging Het
Hbp1 A G 12: 31,993,852 (GRCm39) S59P probably damaging Het
Ighv1-36 T A 12: 114,843,533 (GRCm39) D109V probably damaging Het
Iqcf5 T A 9: 106,392,863 (GRCm39) I40N possibly damaging Het
Kcnma1 T G 14: 23,544,711 (GRCm39) I484L possibly damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Kif3b T A 2: 153,171,644 (GRCm39) S707R possibly damaging Het
Lilra6 G T 7: 3,911,707 (GRCm39) T317N possibly damaging Het
Lrrc15 C T 16: 30,091,780 (GRCm39) E520K probably benign Het
Lrrc34 C T 3: 30,699,465 (GRCm39) probably null Het
Lvrn A G 18: 46,983,745 (GRCm39) T163A probably benign Het
Met T A 6: 17,491,286 (GRCm39) L16* probably null Het
Mpzl2 G T 9: 44,958,587 (GRCm39) D108Y probably benign Het
Mrgprb2 T A 7: 48,202,585 (GRCm39) I47F probably benign Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Mybphl T A 3: 108,282,154 (GRCm39) V128E probably damaging Het
Nckap5 A T 1: 126,030,398 (GRCm39) D231E probably damaging Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Orm1 T A 4: 63,263,448 (GRCm39) I87K probably benign Het
Pdgfrb C T 18: 61,214,076 (GRCm39) P954S probably benign Het
Pdzd8 G T 19: 59,333,784 (GRCm39) S79* probably null Het
Pdzd9 T A 7: 120,262,225 (GRCm39) H79L probably benign Het
Plcg1 A T 2: 160,600,017 (GRCm39) I926F probably damaging Het
Plec A T 15: 76,057,741 (GRCm39) F4078L probably damaging Het
Plek G A 11: 17,002,220 (GRCm39) probably benign Het
Ppfia3 A T 7: 45,008,224 (GRCm39) D215E probably benign Het
Psg22 C A 7: 18,458,366 (GRCm39) S352R probably benign Het
Ptchd4 A G 17: 42,813,626 (GRCm39) Y509C probably damaging Het
Ralgapb C A 2: 158,290,257 (GRCm39) N389K probably benign Het
Rdh1 A G 10: 127,598,906 (GRCm39) D129G probably benign Het
Rimbp3 A G 16: 17,027,610 (GRCm39) T345A probably benign Het
S100a14 T C 3: 90,434,602 (GRCm39) probably null Het
Scamp1 T A 13: 94,361,423 (GRCm39) R152S probably damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Srf T C 17: 46,861,830 (GRCm39) T383A probably benign Het
St6galnac5 T C 3: 152,552,040 (GRCm39) M176V probably damaging Het
St8sia1 C A 6: 142,813,632 (GRCm39) V177F probably damaging Het
Syt12 C T 19: 4,510,895 (GRCm39) probably null Het
Tanc2 A G 11: 105,813,934 (GRCm39) I1793V probably benign Het
Tas2r123 A G 6: 132,824,513 (GRCm39) I137V probably benign Het
Tenm2 T A 11: 36,062,236 (GRCm39) Y543F probably damaging Het
Tent5b T C 4: 133,213,545 (GRCm39) S139P possibly damaging Het
Tgfbr1 T C 4: 47,410,728 (GRCm39) I488T probably damaging Het
Tgm1 T A 14: 55,942,398 (GRCm39) Y651F possibly damaging Het
Thbs3 A T 3: 89,131,722 (GRCm39) D698V probably damaging Het
Tpra1 T A 6: 88,885,294 (GRCm39) I82N probably damaging Het
Ubr4 T A 4: 139,120,401 (GRCm39) D275E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wwp1 T C 4: 19,623,124 (GRCm39) Y787C probably damaging Het
Znfx1 T C 2: 166,890,454 (GRCm39) S677G 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
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'- GTCCAGTGATATAGAAGGATAGCTTG -3'
(R):5'- TTTGAGCATGCACACCCGAG -3'

Sequencing Primer
(F):5'- CAGGCCAGCCTATTTTACAGAATGAG -3'
(R):5'- GCTTAAGGCACTGTGTCTCAAAGC -3'
Posted On 2019-05-13