Incidental Mutation 'R1780:Pogz'
ID 197430
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 039811-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.752) question?
Stock # R1780 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94777437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 372 (K372N)
Ref Sequence ENSEMBL: ENSMUSP00000102891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
AlphaFold Q8BZH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000042402
AA Change: K363N

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: K363N

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 benign
Transcript: ENSMUST00000107266
AA Change: K319N

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: K319N

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: K277N

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: K277N

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: K372N

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: K372N

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
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (80/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,558,229 (GRCm39) E493G probably damaging Het
Aff3 A T 1: 38,574,783 (GRCm39) S66T probably damaging Het
Ankrd17 T A 5: 90,380,274 (GRCm39) K2470N probably damaging Het
Ap3m1 T C 14: 21,091,138 (GRCm39) T156A probably benign Het
Arhgef4 T A 1: 34,763,241 (GRCm39) S832R possibly damaging Het
Asb10 T C 5: 24,738,674 (GRCm39) D423G possibly damaging Het
Ash1l A G 3: 88,873,291 (GRCm39) T25A probably benign Het
Atp13a2 T A 4: 140,729,771 (GRCm39) L663I possibly damaging Het
Atp9b A T 18: 80,820,112 (GRCm39) Y174* probably null Het
Bche A G 3: 73,607,953 (GRCm39) I491T probably benign Het
Bckdhb T C 9: 83,835,836 (GRCm39) probably null Het
Cadps2 C T 6: 23,320,931 (GRCm39) probably null Het
Cdc42bpb A T 12: 111,289,341 (GRCm39) V468E probably damaging Het
Chrnd T C 1: 87,120,270 (GRCm39) V33A possibly damaging Het
Col6a5 A T 9: 105,814,077 (GRCm39) V645D unknown Het
Cpa1 C T 6: 30,643,007 (GRCm39) L312F probably damaging Het
Cyp2a5 A G 7: 26,541,301 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,527,295 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,678,208 (GRCm39) N56S probably damaging Het
Ddx21 A G 10: 62,429,926 (GRCm39) probably benign Het
Dnah11 A T 12: 117,991,293 (GRCm39) C2358S probably damaging Het
Entpd8 T C 2: 24,974,318 (GRCm39) S368P probably benign Het
Epg5 A T 18: 78,067,205 (GRCm39) Q2222L probably damaging Het
Ercc5 T A 1: 44,206,956 (GRCm39) V623E probably benign Het
Flg2 A G 3: 93,110,306 (GRCm39) E778G unknown Het
Gbe1 C T 16: 70,292,212 (GRCm39) R515* probably null Het
Hsd17b6 A G 10: 127,830,196 (GRCm39) probably null Het
Hyal6 C T 6: 24,734,031 (GRCm39) probably benign Het
Ifi27l2b A G 12: 103,417,578 (GRCm39) I203T probably damaging Het
Kcnk9 A C 15: 72,384,250 (GRCm39) D309E unknown Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Mdn1 T C 4: 32,700,103 (GRCm39) F1399L probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mx1 T C 16: 97,252,712 (GRCm39) *289W probably null Het
Myo7b T C 18: 32,094,238 (GRCm39) E1970G probably damaging Het
Mypn T C 10: 62,957,743 (GRCm39) Y24C probably damaging Het
Naxe G C 3: 87,964,440 (GRCm39) P167A probably benign Het
Nmnat2 A T 1: 152,988,186 (GRCm39) K272* probably null Het
Nmnat3 C T 9: 98,236,164 (GRCm39) T19M probably damaging Het
Or4f52 T C 2: 111,062,043 (GRCm39) I32V probably benign Het
Or51b17 A T 7: 103,542,762 (GRCm39) F60Y probably damaging Het
Or51b4 A G 7: 103,530,799 (GRCm39) V217A probably benign Het
Or5b118 A G 19: 13,448,726 (GRCm39) T131A probably benign Het
Or9s27 G A 1: 92,516,111 (GRCm39) V20M probably benign Het
Pgm3 T G 9: 86,438,257 (GRCm39) E509D probably damaging Het
Phf3 A T 1: 30,851,023 (GRCm39) D1110E probably damaging Het
Pkd1 T G 17: 24,800,543 (GRCm39) S3062A probably benign Het
Pou1f1 A G 16: 65,320,356 (GRCm39) Y15C probably benign Het
Ppfia2 A G 10: 106,732,368 (GRCm39) T972A possibly damaging Het
Rasip1 A G 7: 45,284,742 (GRCm39) Y703C possibly damaging Het
Recql T A 6: 142,310,324 (GRCm39) Q502L probably benign Het
Rgs9 A T 11: 109,130,325 (GRCm39) Y383* probably null Het
Rimbp3 T C 16: 17,030,496 (GRCm39) S1307P probably benign Het
Rspo1 A G 4: 124,901,538 (GRCm39) T200A probably damaging Het
Ryr3 C T 2: 112,697,637 (GRCm39) M922I probably damaging Het
Samm50 C T 15: 84,095,328 (GRCm39) A438V probably damaging Het
Sec1 A C 7: 45,328,256 (GRCm39) S264A probably benign Het
Sec31a A T 5: 100,529,195 (GRCm39) probably null Het
Slc13a3 T C 2: 165,248,619 (GRCm39) N553S unknown Het
Smg6 T A 11: 74,836,942 (GRCm39) L852Q probably damaging Het
Spata13 A G 14: 60,929,174 (GRCm39) N244S probably damaging Het
Srbd1 T C 17: 86,365,113 (GRCm39) R648G probably damaging Het
Sugct T G 13: 17,627,039 (GRCm39) probably null Het
Tmed10 A G 12: 85,401,653 (GRCm39) Y85H probably damaging Het
Trim68 A G 7: 102,333,280 (GRCm39) I134T possibly damaging Het
Trio A G 15: 27,744,124 (GRCm39) C2603R possibly damaging Het
Tspyl3 G A 2: 153,067,176 (GRCm39) R21W probably damaging Het
Ttn T C 2: 76,641,043 (GRCm39) I11863V probably null Het
Ubp1 G A 9: 113,793,647 (GRCm39) A283T possibly damaging Het
Ubtf A T 11: 102,205,744 (GRCm39) F60L probably damaging Het
Vmn1r235 T C 17: 21,481,999 (GRCm39) I108T probably benign Het
Vmn2r125 T C 4: 156,703,668 (GRCm39) S349P probably damaging Het
Vmn2r25 A G 6: 123,805,424 (GRCm39) S478P probably damaging Het
Vmn2r88 T A 14: 51,656,029 (GRCm39) V746D probably damaging Het
Zcwpw1 A G 5: 137,794,914 (GRCm39) K37E probably damaging Het
Zdhhc24 T C 19: 4,933,794 (GRCm39) S284P probably damaging Het
Zswim8 C A 14: 20,766,395 (GRCm39) H841N 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
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
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'- ACACAGTGCCTCTCATGCTTGC -3'
(R):5'- TTAAGGTGGTCTTCGTCCAGCTTTC -3'

Sequencing Primer
(F):5'- CATGCTTGCTCTTTACTCTTGG -3'
(R):5'- AGCTCAATCACCTATTGGCGG -3'
Posted On 2014-05-23