Incidental Mutation 'R9024:Pogz'
ID |
686404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pogz
|
Ensembl Gene |
ENSMUSG00000038902 |
Gene Name |
pogo transposable element with ZNF domain |
Synonyms |
9530006B08Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.771)
|
Stock # |
R9024 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94744878-94789637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94785543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 833
(N833Y)
|
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: N824Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037523 Gene: ENSMUSG00000038902 AA Change: N824Y
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: N780Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102887 Gene: ENSMUSG00000038902 AA Change: N780Y
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: N738Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102890 Gene: ENSMUSG00000038902 AA Change: N738Y
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: N833Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102891 Gene: ENSMUSG00000038902 AA Change: N833Y
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: 99.4%
- 20x: 97.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
C |
A |
3: 137,891,923 (GRCm39) |
A16S |
unknown |
Het |
Aldh3b1 |
T |
A |
19: 3,968,155 (GRCm39) |
I335F |
probably damaging |
Het |
Asph |
A |
T |
4: 9,475,025 (GRCm39) |
Y650N |
probably damaging |
Het |
Atr |
T |
C |
9: 95,789,416 (GRCm39) |
V1524A |
possibly damaging |
Het |
Ccin |
A |
G |
4: 43,983,562 (GRCm39) |
|
probably benign |
Het |
Cdk15 |
A |
T |
1: 59,326,957 (GRCm39) |
I213F |
probably damaging |
Het |
Chfr |
G |
T |
5: 110,306,698 (GRCm39) |
S481I |
probably benign |
Het |
Coro2a |
T |
C |
4: 46,542,323 (GRCm39) |
D350G |
probably benign |
Het |
Ctps1 |
C |
A |
4: 120,406,707 (GRCm39) |
E350* |
probably null |
Het |
Dctn4 |
G |
A |
18: 60,678,894 (GRCm39) |
|
probably null |
Het |
Epha4 |
C |
A |
1: 77,365,169 (GRCm39) |
R610L |
possibly damaging |
Het |
Esp4 |
A |
T |
17: 40,911,102 (GRCm39) |
M1L |
unknown |
Het |
Fads3 |
T |
C |
19: 10,033,839 (GRCm39) |
V408A |
probably damaging |
Het |
Gm19402 |
T |
A |
10: 77,525,805 (GRCm39) |
K263* |
probably null |
Het |
Gm26657 |
G |
T |
4: 56,740,769 (GRCm39) |
|
probably benign |
Het |
Hsdl1 |
A |
G |
8: 120,290,839 (GRCm39) |
V311A |
probably benign |
Het |
Hsp90b1 |
A |
G |
10: 86,541,174 (GRCm39) |
F16L |
possibly damaging |
Het |
Icmt |
T |
C |
4: 152,385,161 (GRCm39) |
C208R |
probably damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
Kif21a |
T |
A |
15: 90,821,399 (GRCm39) |
K1465* |
probably null |
Het |
Klhl9 |
A |
T |
4: 88,639,999 (GRCm39) |
F81I |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,490,807 (GRCm39) |
H170R |
possibly damaging |
Het |
Mmp12 |
A |
G |
9: 7,355,444 (GRCm39) |
Y397C |
probably damaging |
Het |
Mpped2 |
T |
C |
2: 106,614,043 (GRCm39) |
F126L |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,287,936 (GRCm39) |
P236S |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,793,295 (GRCm39) |
T1291A |
possibly damaging |
Het |
Myom2 |
T |
C |
8: 15,113,936 (GRCm39) |
L28P |
probably damaging |
Het |
Nfatc2 |
T |
C |
2: 168,328,648 (GRCm39) |
*924W |
probably null |
Het |
Nrip1 |
G |
T |
16: 76,088,388 (GRCm39) |
Y1056* |
probably null |
Het |
Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
Oxr1 |
A |
G |
15: 41,694,518 (GRCm39) |
Y20C |
probably damaging |
Het |
P2ry2 |
T |
C |
7: 100,647,229 (GRCm39) |
T359A |
probably damaging |
Het |
Paxbp1 |
G |
A |
16: 90,840,963 (GRCm39) |
R94C |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,783,623 (GRCm39) |
Y569C |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,592,975 (GRCm39) |
T1713A |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,370,176 (GRCm39) |
S56G |
probably benign |
Het |
Plekhg5 |
T |
C |
4: 152,197,118 (GRCm39) |
I801T |
possibly damaging |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Polk |
G |
T |
13: 96,623,340 (GRCm39) |
H501N |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,874,567 (GRCm39) |
N1043S |
probably damaging |
Het |
Rad18 |
A |
T |
6: 112,626,562 (GRCm39) |
C448S |
probably benign |
Het |
Rhof |
T |
A |
5: 123,269,963 (GRCm39) |
K65* |
probably null |
Het |
Rpa2 |
T |
C |
4: 132,499,153 (GRCm39) |
V74A |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 110,015,001 (GRCm39) |
M522T |
probably damaging |
Het |
Snai2 |
T |
C |
16: 14,524,769 (GRCm39) |
S92P |
probably benign |
Het |
Srrt |
C |
A |
5: 137,301,291 (GRCm39) |
R45L |
unknown |
Het |
Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
Tubd1 |
T |
G |
11: 86,445,991 (GRCm39) |
H210Q |
possibly damaging |
Het |
Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
Vmn2r63 |
T |
G |
7: 42,577,874 (GRCm39) |
R221S |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,923,470 (GRCm39) |
I3782V |
probably damaging |
Het |
Zfp184 |
T |
A |
13: 22,143,128 (GRCm39) |
I278N |
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 |
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'- CACGGAAAAGTCCCAAGTATTTG -3'
(R):5'- GCCTTCCCAGGTTAGAATGC -3'
Sequencing Primer
(F):5'- AAGTGGTTATGTGACTTACTCCC -3'
(R):5'- CCCAGGTTAGAATGCTTATAGTCTGC -3'
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Posted On |
2021-10-11 |