Incidental Mutation 'R7788:Pogz'
ID 599644
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 045844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R7788 (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 94782544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 635 (Y635C)
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: Y626C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: Y626C

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: Y582C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: Y582C

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: Y540C

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: Y540C

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: Y635C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: Y635C

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A T 14: 68,750,094 (GRCm39) V442E possibly damaging Het
Adgrv1 A T 13: 81,721,433 (GRCm39) V715D probably damaging Het
Aldh1l1 A C 6: 90,546,894 (GRCm39) D399A probably benign Het
Ankrd23 T C 1: 36,570,808 (GRCm39) N274S probably damaging Het
Aopep A T 13: 63,304,407 (GRCm39) H473L possibly damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Arpc4 A T 6: 113,362,565 (GRCm39) M149L probably benign Het
Bdp1 T C 13: 100,191,759 (GRCm39) T1407A possibly damaging Het
Calml3 A T 13: 3,854,121 (GRCm39) I28N probably damaging Het
Cdhr3 A G 12: 33,110,319 (GRCm39) S322P probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cntn5 A G 9: 9,704,934 (GRCm39) S622P probably benign Het
Col22a1 A G 15: 71,824,166 (GRCm39) probably null Het
Csf2rb2 A T 15: 78,177,041 (GRCm39) I143N probably benign Het
Cwh43 T C 5: 73,572,377 (GRCm39) L205P probably damaging Het
Dennd5b T C 6: 148,970,064 (GRCm39) T52A probably benign Het
Dhx40 A G 11: 86,666,502 (GRCm39) I597T possibly damaging Het
Dnajc21 A G 15: 10,460,133 (GRCm39) L268P probably damaging Het
Dzip1 A T 14: 119,120,805 (GRCm39) D717E probably benign Het
Elmo3 A G 8: 106,034,876 (GRCm39) N389D probably damaging Het
Evi2a T C 11: 79,418,768 (GRCm39) E14G unknown Het
Fam149a T A 8: 45,834,554 (GRCm39) R82W probably damaging Het
Farp1 A T 14: 121,513,665 (GRCm39) E820V probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Flnc G A 6: 29,456,443 (GRCm39) V2214I possibly damaging Het
Galnt4 C A 10: 98,944,975 (GRCm39) N233K possibly damaging Het
Gbp5 A G 3: 142,208,841 (GRCm39) Y128C probably damaging Het
Gm4871 G A 5: 144,969,420 (GRCm39) T33I probably benign Het
Gm5592 T C 7: 40,936,118 (GRCm39) S207P probably benign Het
Gtf2ird1 A T 5: 134,445,985 (GRCm39) C15* probably null Het
Ido2 T A 8: 25,037,242 (GRCm39) I155F probably damaging Het
Ifi27l2b A T 12: 103,423,268 (GRCm39) probably null Het
Il15ra C T 2: 11,728,404 (GRCm39) T49I probably damaging Het
Itpr3 T A 17: 27,337,571 (GRCm39) C2460* probably null Het
Kcnj11 T C 7: 45,749,179 (GRCm39) N48S probably damaging Het
Lmo7 A C 14: 102,136,012 (GRCm39) N695T possibly damaging Het
Mmp15 C A 8: 96,094,776 (GRCm39) H217N probably damaging Het
Mtcl2 C T 2: 156,869,504 (GRCm39) A1044T probably benign Het
Muc21 A T 17: 35,929,798 (GRCm39) S1463T unknown Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Myo5c A T 9: 75,186,627 (GRCm39) D991V probably damaging Het
Nfkbid T A 7: 30,126,603 (GRCm39) N396K probably damaging Het
Oas1c A G 5: 120,939,107 (GRCm39) F361L probably benign Het
Or10aa1 A G 1: 173,869,650 (GRCm39) I45V probably benign Het
Or1e1b-ps1 A T 11: 73,845,948 (GRCm39) Y144F probably benign Het
Osbpl9 T C 4: 108,919,691 (GRCm39) K606E probably benign Het
Pkp2 C A 16: 16,043,272 (GRCm39) L111I probably benign Het
Prdx2 A G 8: 85,698,303 (GRCm39) T165A probably benign Het
Ptcd3 T C 6: 71,862,541 (GRCm39) I465V probably benign Het
Ptprd G A 4: 75,916,841 (GRCm39) T770I probably damaging Het
Rapgef6 A G 11: 54,585,225 (GRCm39) Y1541C probably damaging Het
Rilpl1 A T 5: 124,634,200 (GRCm39) probably null Het
Rimbp3 T A 16: 17,030,568 (GRCm39) Y1331N probably benign Het
Sav1 T C 12: 70,030,995 (GRCm39) R176G probably damaging Het
Sirt5 A G 13: 43,536,623 (GRCm39) H219R probably benign Het
Skint5 T G 4: 113,403,715 (GRCm39) D1169A unknown Het
Slfn9 G T 11: 82,873,467 (GRCm39) Q479K possibly damaging Het
Spata31f1e A T 4: 42,793,546 (GRCm39) H195Q possibly damaging Het
Susd4 T C 1: 182,722,767 (GRCm39) I483T possibly damaging Het
Tmem156 C T 5: 65,232,912 (GRCm39) V217I possibly damaging Het
Tmem79 A G 3: 88,239,949 (GRCm39) Y254H probably benign Het
Tmprss2 T A 16: 97,377,429 (GRCm39) K223* probably null Het
Trav3-1 T C 14: 52,818,581 (GRCm39) V85A probably damaging Het
Ttn T C 2: 76,716,100 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,559 (GRCm39) I344V not run Het
Vps13c A T 9: 67,847,765 (GRCm39) M2176L probably benign Het
Wdfy3 A T 5: 101,996,223 (GRCm39) V3213D probably damaging Het
Zbtb21 G A 16: 97,752,654 (GRCm39) T543M possibly damaging Het
Zc3hav1 A T 6: 38,309,691 (GRCm39) V377D probably benign Het
Zswim3 T C 2: 164,661,699 (GRCm39) C60R 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
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'- GGCTCCAGTTGTTCACCTTG -3'
(R):5'- GTATCGTCCCCTATTAACAAAGCC -3'

Sequencing Primer
(F):5'- AGTTGTTCACCTTGCCCTTATTTTC -3'
(R):5'- ACAAAGCCCTCATTTTTGTGTGTG -3'
Posted On 2019-11-26