Incidental Mutation 'R8396:Pogz'
ID 647597
Institutional Source Beutler Lab
Gene Symbol Pogz
Ensembl Gene ENSMUSG00000038902
Gene Name pogo transposable element with ZNF domain
Synonyms 9530006B08Rik
MMRRC Submission 067812-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R8396 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94744878-94789637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94786061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 883 (V883A)
Ref Sequence ENSEMBL: ENSMUSP00000102891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]
AlphaFold Q8BZH4
Predicted Effect probably benign
Transcript: ENSMUST00000042402
AA Change: V874A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: V874A

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: V830A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: V830A

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: V788A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: V788A

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 benign
Transcript: ENSMUST00000107270
AA Change: V883A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: V883A

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: 99.5%
  • 20x: 98.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A G 10: 18,528,280 (GRCm39) probably null Het
Arid1a T C 4: 133,479,973 (GRCm39) Y317C probably damaging Het
Asxl2 A G 12: 3,552,220 (GRCm39) T1321A probably benign Het
Bckdk A G 7: 127,504,931 (GRCm39) Y129C probably damaging Het
Birc2 A G 9: 7,834,301 (GRCm39) V60A probably benign Het
Bmp8a T C 4: 123,218,952 (GRCm39) H152R probably benign Het
C3 T C 17: 57,528,029 (GRCm39) H730R probably benign Het
Ccser1 T A 6: 61,289,088 (GRCm39) V417E probably benign Het
Cfap58 T A 19: 48,017,540 (GRCm39) M800K probably damaging Het
Clip1 A G 5: 123,780,627 (GRCm39) L352P probably damaging Het
Cr2 A G 1: 194,840,376 (GRCm39) L522P probably damaging Het
Ctcf T A 8: 106,393,379 (GRCm39) H347Q possibly damaging Het
Gm13271 A T 4: 88,673,318 (GRCm39) M72L probably benign Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Irx5 G A 8: 93,086,962 (GRCm39) G298D probably benign Het
Klf5 T C 14: 99,539,670 (GRCm39) I361T possibly damaging Het
Lsm11 G A 11: 45,835,591 (GRCm39) A50V probably benign Het
Map1b T C 13: 99,570,621 (GRCm39) K700R unknown Het
Muc5b A T 7: 141,405,552 (GRCm39) T954S unknown Het
Nhsl1 A G 10: 18,400,910 (GRCm39) N678S probably benign Het
Npsr1 T A 9: 24,221,377 (GRCm39) I277N possibly damaging Het
Ntsr2 A G 12: 16,706,821 (GRCm39) H283R probably damaging Het
Obscn A T 11: 58,893,829 (GRCm39) I6746N probably benign Het
Obsl1 T C 1: 75,480,350 (GRCm39) T425A probably benign Het
Pag1 T A 3: 9,759,112 (GRCm39) E335D probably benign Het
Parp3 T A 9: 106,351,447 (GRCm39) Q223L probably benign Het
Rsbn1l A T 5: 21,132,665 (GRCm39) M198K probably benign Het
Sh3bgr A G 16: 96,007,680 (GRCm39) probably null Het
Shc4 A G 2: 125,471,617 (GRCm39) I600T probably damaging Het
Slc26a1 T C 5: 108,821,715 (GRCm39) H74R probably benign Het
Slc7a11 A C 3: 50,338,578 (GRCm39) I277S possibly damaging Het
Tep1 G T 14: 51,074,529 (GRCm39) T1832N probably benign Het
Terf2 A G 8: 107,809,613 (GRCm39) probably null Het
Tle4 G A 19: 14,432,323 (GRCm39) Q458* probably null Het
Trim34b A T 7: 103,979,083 (GRCm39) D110V probably damaging Het
Usp9y A T Y: 1,308,034 (GRCm39) N2267K possibly damaging Het
Vmn2r50 G A 7: 9,781,639 (GRCm39) Q369* probably null Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp229 T C 17: 21,965,077 (GRCm39) S436P 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
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'- CAGTTGGATGTCTCACTTGAGG -3'
(R):5'- GTGACAGGGCTTCCTTCTTC -3'

Sequencing Primer
(F):5'- GGACACTTTGCACAATGTCTG -3'
(R):5'- AGGGCTTCCTTCTTCCTGTTCAC -3'
Posted On 2020-09-02