Incidental Mutation 'R8982:Pogz'
ID |
683764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pogz
|
Ensembl Gene |
ENSMUSG00000038902 |
Gene Name |
pogo transposable element with ZNF domain |
Synonyms |
9530006B08Rik |
MMRRC Submission |
068815-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.771)
|
Stock # |
R8982 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94744878-94789637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94786879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1156
(V1156M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005923]
[ENSMUST00000042402]
[ENSMUST00000107266]
[ENSMUST00000107269]
[ENSMUST00000107270]
|
AlphaFold |
Q8BZH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005923
|
SMART Domains |
Protein: ENSMUSP00000005923 Gene: ENSMUSG00000005779
Domain | Start | End | E-Value | Type |
Pfam:Proteasome
|
50 |
237 |
3.1e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042402
AA Change: V1147M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037523 Gene: ENSMUSG00000038902 AA Change: V1147M
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: V1103M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102887 Gene: ENSMUSG00000038902 AA Change: V1103M
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: V1061M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102890 Gene: ENSMUSG00000038902 AA Change: V1061M
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: V1156M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102891 Gene: ENSMUSG00000038902 AA Change: V1156M
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: 99.5%
- 20x: 98.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
A |
G |
1: 78,677,485 (GRCm39) |
N493S |
probably benign |
Het |
Actg2 |
T |
C |
6: 83,497,697 (GRCm39) |
D185G |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,748,750 (GRCm39) |
N1439S |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,293,316 (GRCm39) |
S745T |
probably damaging |
Het |
Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
C4b |
A |
G |
17: 34,953,338 (GRCm39) |
|
probably null |
Het |
Cenpc1 |
A |
G |
5: 86,195,533 (GRCm39) |
S79P |
probably damaging |
Het |
Cep295nl |
A |
T |
11: 118,224,671 (GRCm39) |
W58R |
probably damaging |
Het |
Ces2f |
T |
A |
8: 105,679,667 (GRCm39) |
C387S |
probably benign |
Het |
Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
Ckap5 |
T |
C |
2: 91,437,923 (GRCm39) |
V1668A |
possibly damaging |
Het |
Clock |
A |
G |
5: 76,364,559 (GRCm39) |
V852A |
unknown |
Het |
Col22a1 |
A |
G |
15: 71,845,487 (GRCm39) |
|
probably null |
Het |
Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,536,294 (GRCm39) |
Y684C |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,570,301 (GRCm39) |
E1835G |
probably benign |
Het |
F830045P16Rik |
T |
A |
2: 129,314,812 (GRCm39) |
Q155L |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,729,895 (GRCm39) |
D36G |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,466,305 (GRCm39) |
V2412A |
probably benign |
Het |
Hoxa13 |
T |
A |
6: 52,235,916 (GRCm39) |
K210* |
probably null |
Het |
Hoxc5 |
T |
C |
15: 102,923,740 (GRCm39) |
Y179H |
probably damaging |
Het |
Hrob |
G |
A |
11: 102,146,110 (GRCm39) |
A129T |
probably benign |
Het |
Htr1d |
A |
T |
4: 136,170,866 (GRCm39) |
Q365L |
possibly damaging |
Het |
Krt72 |
C |
T |
15: 101,690,059 (GRCm39) |
V253M |
possibly damaging |
Het |
Mecom |
G |
A |
3: 30,017,255 (GRCm39) |
T470I |
probably damaging |
Het |
Nefh |
G |
A |
11: 4,897,549 (GRCm39) |
A129V |
probably damaging |
Het |
Nlrp2 |
T |
A |
7: 5,327,978 (GRCm39) |
I692F |
probably damaging |
Het |
Nr6a1 |
T |
A |
2: 38,762,613 (GRCm39) |
I61L |
probably benign |
Het |
Or10aa1 |
T |
G |
1: 173,870,188 (GRCm39) |
V224G |
probably damaging |
Het |
Or10j2 |
G |
A |
1: 173,098,306 (GRCm39) |
C188Y |
probably damaging |
Het |
Or5d18 |
A |
T |
2: 87,864,613 (GRCm39) |
I290K |
probably damaging |
Het |
Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,387,069 (GRCm39) |
L1314* |
probably null |
Het |
Pramel23 |
T |
G |
4: 143,424,886 (GRCm39) |
I186L |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,102,134 (GRCm39) |
C736S |
probably damaging |
Het |
Psg18 |
T |
A |
7: 18,083,300 (GRCm39) |
H285L |
probably benign |
Het |
Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
Rfx6 |
G |
A |
10: 51,599,915 (GRCm39) |
V554M |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,027,511 (GRCm39) |
T312A |
probably benign |
Het |
Slfn5 |
G |
A |
11: 82,850,966 (GRCm39) |
W421* |
probably null |
Het |
Srcin1 |
A |
G |
11: 97,426,624 (GRCm39) |
I291T |
probably damaging |
Het |
Sult3a2 |
T |
C |
10: 33,658,069 (GRCm39) |
N15D |
probably damaging |
Het |
Tmem179 |
A |
T |
12: 112,468,301 (GRCm39) |
L193Q |
probably damaging |
Het |
Tmem200b |
T |
A |
4: 131,649,668 (GRCm39) |
L196Q |
probably damaging |
Het |
Trim71 |
T |
C |
9: 114,342,804 (GRCm39) |
T493A |
possibly damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,263,001 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
A |
G |
9: 121,592,334 (GRCm39) |
E218G |
probably benign |
Het |
Zbtb7c |
G |
A |
18: 76,279,344 (GRCm39) |
G601S |
probably damaging |
Het |
Zdhhc3 |
A |
G |
9: 122,929,578 (GRCm39) |
L19P |
probably benign |
Het |
Zfp385b |
G |
T |
2: 77,242,300 (GRCm39) |
T473K |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,066,172 (GRCm39) |
K48E |
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 |
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'- ACACGTTACCGAAGCATGTAGC -3'
(R):5'- GCTTTTGCTGTGCTGACAAGC -3'
Sequencing Primer
(F):5'- CAGAAAATGCTGGACTCTTCATTGAG -3'
(R):5'- CTGTGTGCTTCTTCCATACACGG -3'
|
Posted On |
2021-10-11 |