Incidental Mutation 'R5598:Pogz'
| ID |
437913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pogz
|
| Ensembl Gene |
ENSMUSG00000038902 |
| Gene Name |
pogo transposable element with ZNF domain |
| Synonyms |
9530006B08Rik |
| MMRRC Submission |
043150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R5598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94744878-94789637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94771820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 304
(V304E)
|
| 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: V295E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: V295E
| 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 |
noncoding transcript
Transcript: ENSMUST00000107265
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107266
AA Change: V251E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: V251E
| 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: V209E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: V209E
| 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: V304E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: V304E
| 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 |
noncoding transcript
Transcript: ENSMUST00000126235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132544
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,025,645 (GRCm39) |
D550G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,839,228 (GRCm39) |
T457A |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,935,221 (GRCm39) |
V359A |
probably damaging |
Het |
| Aqp2 |
G |
T |
15: 99,476,993 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
C |
T |
16: 29,075,829 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
ACCCCC |
ACCCCCCCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
| Ccr1l1 |
A |
G |
9: 123,778,030 (GRCm39) |
V139A |
probably benign |
Het |
| Cecr2 |
A |
G |
6: 120,708,407 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,310,119 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,856,032 (GRCm39) |
K741N |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,075 (GRCm39) |
T405S |
probably benign |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cmss1 |
C |
A |
16: 57,131,649 (GRCm39) |
C159F |
probably damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,916 (GRCm39) |
|
probably benign |
Het |
| Cradd |
G |
T |
10: 95,011,666 (GRCm39) |
S158* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,997,545 (GRCm39) |
A578T |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,318,315 (GRCm39) |
N419S |
possibly damaging |
Het |
| E4f1 |
T |
C |
17: 24,666,103 (GRCm39) |
T232A |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,171,956 (GRCm39) |
E2919V |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,586,309 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,249,143 (GRCm39) |
V173I |
probably benign |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,799,015 (GRCm39) |
P729S |
possibly damaging |
Het |
| Lgi1 |
A |
G |
19: 38,294,629 (GRCm39) |
D467G |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,219,650 (GRCm39) |
Y174H |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,475,592 (GRCm39) |
I824N |
probably damaging |
Het |
| Myrf |
C |
T |
19: 10,192,654 (GRCm39) |
E622K |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,457,051 (GRCm39) |
Y416H |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,248 (GRCm39) |
T132A |
probably benign |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,466 (GRCm39) |
P94S |
probably damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,941 (GRCm39) |
D307E |
probably benign |
Het |
| Or52s1b |
A |
T |
7: 102,822,841 (GRCm39) |
M1K |
probably null |
Het |
| Or8b1 |
A |
T |
9: 38,399,821 (GRCm39) |
R165S |
possibly damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,476 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pdia3 |
C |
A |
2: 121,244,611 (GRCm39) |
T8K |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,007 (GRCm39) |
S835G |
possibly damaging |
Het |
| Susd4 |
T |
C |
1: 182,719,635 (GRCm39) |
S417P |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,523,578 (GRCm39) |
R127H |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,781,216 (GRCm39) |
D460G |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,826,234 (GRCm39) |
M148K |
probably damaging |
Het |
| Ubn2 |
G |
A |
6: 38,467,323 (GRCm39) |
C677Y |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,161 (GRCm39) |
I721T |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,855,454 (GRCm39) |
C720F |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,807,347 (GRCm39) |
D2742N |
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 |
|
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 |
|
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'- TCACCATCCGAAGCACTGTC -3'
(R):5'- ATGACTGCATGACTGGTGTC -3'
Sequencing Primer
(F):5'- AACCTCACTGGGGCAGCTAG -3'
(R):5'- GGTGTCCAGCCTCTCACC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation