Incidental Mutation 'R9316:Pogz'
ID |
705872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pogz
|
Ensembl Gene |
ENSMUSG00000038902 |
Gene Name |
pogo transposable element with ZNF domain |
Synonyms |
9530006B08Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.771)
|
Stock # |
R9316 (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 A
at 94784659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 779
(S779T)
|
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: S770T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037523 Gene: ENSMUSG00000038902 AA Change: S770T
Domain | Start | End | E-Value | Type |
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: S726T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102887 Gene: ENSMUSG00000038902 AA Change: S726T
Domain | Start | End | E-Value | Type |
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: S684T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102890 Gene: ENSMUSG00000038902 AA Change: S684T
Domain | Start | End | E-Value | Type |
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: S779T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102891 Gene: ENSMUSG00000038902 AA Change: S779T
Domain | Start | End | E-Value | Type |
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
91% (32/35) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
Asb10 |
G |
T |
5: 24,745,045 (GRCm39) |
N101K |
possibly damaging |
Het |
Bpifa6 |
T |
C |
2: 153,828,383 (GRCm39) |
V163A |
possibly damaging |
Het |
Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
Iho1 |
T |
C |
9: 108,298,726 (GRCm39) |
T31A |
possibly damaging |
Het |
Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
Pacsin1 |
A |
G |
17: 27,924,707 (GRCm39) |
K186E |
possibly damaging |
Het |
Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
Qsox2 |
T |
G |
2: 26,101,084 (GRCm39) |
K475T |
probably benign |
Het |
Qsox2 |
T |
A |
2: 26,101,085 (GRCm39) |
K475* |
probably null |
Het |
Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,430,855 (GRCm39) |
H158N |
possibly damaging |
Het |
Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
probably damaging |
Het |
|
Other mutations in Pogz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- GGGTCAAAATCTTACGCTTTTGTG -3'
(R):5'- CTACACTTGCAGTAGGGAGAC -3'
Sequencing Primer
(F):5'- TTGTGATACCTGAGGGAGTAATGAC -3'
(R):5'- ACTAACAGAGCTGACTCAATATGG -3'
|
Posted On |
2022-03-25 |