Incidental Mutation 'R8681:Pogz'
ID |
661729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pogz
|
Ensembl Gene |
ENSMUSG00000038902 |
Gene Name |
pogo transposable element with ZNF domain |
Synonyms |
9530006B08Rik |
MMRRC Submission |
068536-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.771)
|
Stock # |
R8681 (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 A
at 94768234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 137
(H137Q)
|
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: H137Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000037523 Gene: ENSMUSG00000038902 AA Change: H137Q
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: H84Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102887 Gene: ENSMUSG00000038902 AA Change: H84Q
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 benign
Transcript: ENSMUST00000107269
|
SMART Domains |
Protein: ENSMUSP00000102890 Gene: ENSMUSG00000038902
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: H137Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102891 Gene: ENSMUSG00000038902 AA Change: H137Q
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140397
|
SMART Domains |
Protein: ENSMUSP00000122492 Gene: ENSMUSG00000038902
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
38 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
G |
8: 87,231,908 (GRCm39) |
V1347A |
possibly damaging |
Het |
Adam32 |
G |
A |
8: 25,327,811 (GRCm39) |
T750I |
unknown |
Het |
Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,817,899 (GRCm39) |
D438G |
probably null |
Het |
Anks1b |
T |
A |
10: 89,885,868 (GRCm39) |
M188K |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,338,373 (GRCm39) |
F583S |
probably damaging |
Het |
Arhgef18 |
A |
G |
8: 3,439,074 (GRCm39) |
Y477C |
unknown |
Het |
Cep112 |
T |
C |
11: 108,316,478 (GRCm39) |
|
probably null |
Het |
Clu |
T |
C |
14: 66,218,406 (GRCm39) |
V422A |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,038,600 (GRCm39) |
L1050P |
probably damaging |
Het |
Col23a1 |
A |
T |
11: 51,458,756 (GRCm39) |
T298S |
possibly damaging |
Het |
Cyp26c1 |
A |
T |
19: 37,675,065 (GRCm39) |
T129S |
probably damaging |
Het |
Cyp2c38 |
A |
C |
19: 39,390,135 (GRCm39) |
V355G |
possibly damaging |
Het |
Cyp4a30b |
G |
A |
4: 115,314,942 (GRCm39) |
V175M |
possibly damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
Dcaf17 |
T |
A |
2: 70,886,913 (GRCm39) |
Y67* |
probably null |
Het |
Dll3 |
T |
C |
7: 27,994,270 (GRCm39) |
D389G |
probably damaging |
Het |
Fbxo33 |
A |
G |
12: 59,265,830 (GRCm39) |
F146L |
probably benign |
Het |
Gm10118 |
C |
T |
10: 63,762,756 (GRCm39) |
V61M |
unknown |
Het |
Gm9611 |
T |
C |
14: 42,118,026 (GRCm39) |
D102G |
|
Het |
Grik5 |
G |
A |
7: 24,709,897 (GRCm39) |
A946V |
probably benign |
Het |
Il17c |
A |
G |
8: 123,150,207 (GRCm39) |
D150G |
possibly damaging |
Het |
Ino80e |
A |
G |
7: 126,460,893 (GRCm39) |
L22P |
probably damaging |
Het |
Kcnh2 |
G |
T |
5: 24,536,981 (GRCm39) |
T201K |
probably benign |
Het |
Klrb1 |
A |
C |
6: 128,687,012 (GRCm39) |
N173K |
possibly damaging |
Het |
Kmt2d |
T |
A |
15: 98,743,948 (GRCm39) |
Q3737H |
unknown |
Het |
Lemd3 |
T |
C |
10: 120,767,728 (GRCm39) |
D682G |
possibly damaging |
Het |
Lilra5 |
T |
C |
7: 4,241,216 (GRCm39) |
V51A |
probably benign |
Het |
Lrrc25 |
G |
A |
8: 71,070,314 (GRCm39) |
V32I |
possibly damaging |
Het |
Mdh1b |
T |
A |
1: 63,754,360 (GRCm39) |
M403L |
probably benign |
Het |
Mms19 |
G |
A |
19: 41,937,915 (GRCm39) |
L765F |
probably damaging |
Het |
Msx3 |
T |
A |
7: 139,628,900 (GRCm39) |
T5S |
probably benign |
Het |
Myh13 |
A |
C |
11: 67,242,960 (GRCm39) |
I958L |
possibly damaging |
Het |
Myo18b |
T |
A |
5: 113,021,429 (GRCm39) |
|
probably null |
Het |
Myo9a |
G |
A |
9: 59,775,394 (GRCm39) |
V1002I |
probably benign |
Het |
Neb |
T |
C |
2: 52,127,048 (GRCm39) |
K379R |
probably damaging |
Het |
Nsmce2 |
A |
G |
15: 59,473,208 (GRCm39) |
S216G |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,591,263 (GRCm39) |
E246G |
probably damaging |
Het |
Or11h7 |
A |
T |
14: 50,890,801 (GRCm39) |
M36L |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Pkp2 |
A |
T |
16: 16,048,545 (GRCm39) |
M317L |
probably benign |
Het |
Prrx2 |
G |
T |
2: 30,735,519 (GRCm39) |
D25Y |
unknown |
Het |
Ptprf |
T |
C |
4: 118,088,844 (GRCm39) |
D653G |
probably benign |
Het |
Rps6kl1 |
T |
A |
12: 85,194,629 (GRCm39) |
E94V |
probably damaging |
Het |
Slc44a1 |
A |
T |
4: 53,481,510 (GRCm39) |
D27V |
probably damaging |
Het |
Slc44a4 |
A |
G |
17: 35,147,253 (GRCm39) |
I549V |
possibly damaging |
Het |
Slc8a3 |
T |
C |
12: 81,361,914 (GRCm39) |
T302A |
probably benign |
Het |
Spic |
T |
A |
10: 88,511,847 (GRCm39) |
K136N |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,661,392 (GRCm39) |
L473P |
probably damaging |
Het |
Syce1 |
G |
A |
7: 140,361,987 (GRCm39) |
T32I |
possibly damaging |
Het |
Tars2 |
G |
A |
3: 95,658,199 (GRCm39) |
Q209* |
probably null |
Het |
Tmem9b |
A |
G |
7: 109,344,527 (GRCm39) |
V100A |
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,181,128 (GRCm39) |
I131V |
probably benign |
Het |
Vmn2r26 |
C |
T |
6: 124,001,877 (GRCm39) |
T54I |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,747 (GRCm39) |
E1016G |
probably damaging |
Het |
Zfp773 |
T |
C |
7: 7,139,482 (GRCm39) |
T56A |
possibly 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 |
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'- TCTGAGACACTGTTTCTTAGCTG -3'
(R):5'- CAGGATCCCGTGAAACAGTC -3'
Sequencing Primer
(F):5'- GTTTCTAACATCCCTTTCTTGTTCTG -3'
(R):5'- GATCCCGTGAAACAGTCCAGAG -3'
|
Posted On |
2021-03-08 |