Incidental Mutation 'R5999:Pogz'
ID 480709
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 044178-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R5999 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94763428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 67 (T67A)
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: T67A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: T67A

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 noncoding transcript
Transcript: ENSMUST00000107265
Predicted Effect probably benign
Transcript: ENSMUST00000107266
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902

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
AA Change: T67A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: T67A

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: T67A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: T67A

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: ENSMUST00000126235
Meta Mutation Damage Score 0.0828 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A G 12: 84,122,328 (GRCm39) D304G probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akap9 A G 5: 4,093,925 (GRCm39) N2149S probably damaging Het
Akp3 T A 1: 87,055,263 (GRCm39) Y437N probably damaging Het
Anks1b C T 10: 90,194,910 (GRCm39) T530I probably damaging Het
Bltp2 T C 11: 78,176,294 (GRCm39) F1799L probably damaging Het
Bnc2 C T 4: 84,474,137 (GRCm39) R3H probably benign Het
Cald1 A T 6: 34,723,273 (GRCm39) probably benign Het
Capn9 A G 8: 125,315,817 (GRCm39) T87A probably damaging Het
Ccdc88c A G 12: 100,934,613 (GRCm39) L175P probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cd44 A T 2: 102,675,742 (GRCm39) N310K probably benign Het
Cenpc1 T A 5: 86,160,122 (GRCm39) K905N probably damaging Het
Cept1 A T 3: 106,440,759 (GRCm39) D133E probably damaging Het
Cltc T C 11: 86,594,955 (GRCm39) H1381R possibly damaging Het
Col4a4 T A 1: 82,470,340 (GRCm39) T730S unknown Het
Col6a4 A T 9: 105,945,120 (GRCm39) M998K probably benign Het
Cpne6 T C 14: 55,750,516 (GRCm39) V119A probably benign Het
Ddx54 G T 5: 120,761,645 (GRCm39) A474S probably benign Het
Dmbx1 G T 4: 115,775,373 (GRCm39) N302K probably damaging Het
Dnah8 A G 17: 30,882,279 (GRCm39) E617G probably benign Het
Ei24 A G 9: 36,704,603 (GRCm39) V10A probably benign Het
Elp3 A G 14: 65,768,989 (GRCm39) V543A probably benign Het
Frmd3 T C 4: 74,088,928 (GRCm39) I375T possibly damaging Het
Gm6408 A G 5: 146,421,067 (GRCm39) D232G possibly damaging Het
Inmt A T 6: 55,151,933 (GRCm39) Y12* probably null Het
Inpp5k G T 11: 75,523,926 (GRCm39) A44S probably damaging Het
Kalrn T A 16: 34,177,713 (GRCm39) T169S probably damaging Het
Kif28 A T 1: 179,523,355 (GRCm39) F992I probably damaging Het
Kmt2c A T 5: 25,489,203 (GRCm39) Y1199N probably damaging Het
Large2 C T 2: 92,196,403 (GRCm39) E475K probably benign Het
Mroh2b T A 15: 4,942,366 (GRCm39) probably null Het
Mrpl42 T C 10: 95,336,341 (GRCm39) probably benign Het
Muc5b A T 7: 141,411,116 (GRCm39) H1354L unknown Het
Myof C A 19: 37,928,304 (GRCm39) E1095* probably null Het
Ncor2 A G 5: 125,110,505 (GRCm39) V1385A probably damaging Het
Nr5a2 T C 1: 136,773,280 (GRCm39) Y474C probably damaging Het
Or1j10 A G 2: 36,267,322 (GRCm39) D178G probably damaging Het
Or5a21 C T 19: 12,311,008 (GRCm39) D71N probably damaging Het
Or5l13 A T 2: 87,780,145 (GRCm39) probably null Het
Prep T A 10: 44,948,225 (GRCm39) probably null Het
Prf1 A G 10: 61,138,807 (GRCm39) D255G probably damaging Het
Psme2 A G 14: 55,827,539 (GRCm39) L24P probably damaging Het
Scmh1 T A 4: 120,362,712 (GRCm39) probably null Het
Scpep1 A G 11: 88,820,139 (GRCm39) V383A possibly damaging Het
Slc4a10 A T 2: 62,073,775 (GRCm39) N279I probably benign Het
Sphkap T C 1: 83,245,126 (GRCm39) S1498G probably benign Het
Spinkl C A 18: 44,301,206 (GRCm39) S44I probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tle5 T C 10: 81,397,098 (GRCm39) S25P probably damaging Het
Tmem213 A G 6: 38,086,386 (GRCm39) Q14R probably benign Het
Tns1 A T 1: 73,967,256 (GRCm39) Y1172* probably null Het
Ugt2b37 A C 5: 87,402,036 (GRCm39) I198M probably benign Het
Usp17lb A C 7: 104,489,552 (GRCm39) I457M probably damaging Het
Usp6nl G T 2: 6,446,150 (GRCm39) R709L probably damaging Het
Zer1 A G 2: 29,995,009 (GRCm39) L462P probably damaging Het
Zfhx2 A G 14: 55,311,462 (GRCm39) S411P probably benign 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
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'- TTGGCTGTCAAAACACAAAGG -3'
(R):5'- GTCCTGCACTGACTGAAGAAC -3'

Sequencing Primer
(F):5'- TGGCTGTCAAAACACAAAGGAATGAG -3'
(R):5'- GTGTTCCTTCCACGCAAACAG -3'
Posted On 2017-06-26