Incidental Mutation 'R1995:Pogz'
| ID |
225666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pogz
|
| Ensembl Gene |
ENSMUSG00000038902 |
| Gene Name |
pogo transposable element with ZNF domain |
| Synonyms |
9530006B08Rik |
| MMRRC Submission |
040005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.752)
|
| Stock # |
R1995 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94744878-94789637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94785255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 793
(R793W)
|
| 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: R784W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: R784W
| 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: R740W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: R740W
| 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: R698W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: R698W
| 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: R793W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: R793W
| 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: ENSMUST00000125638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142253
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
G |
13: 59,678,872 (GRCm39) |
K145N |
probably damaging |
Het |
| AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,493,904 (GRCm39) |
Y496H |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
| Cenpl |
T |
C |
1: 160,905,994 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,873,208 (GRCm39) |
T41I |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cnbd1 |
G |
A |
4: 19,055,112 (GRCm39) |
P105S |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,557,790 (GRCm39) |
N149D |
probably damaging |
Het |
| Ctnna3 |
T |
A |
10: 63,656,143 (GRCm39) |
V241D |
probably damaging |
Het |
| Dcbld2 |
A |
C |
16: 58,276,695 (GRCm39) |
E495D |
probably benign |
Het |
| Dmp1 |
T |
G |
5: 104,357,779 (GRCm39) |
S40A |
possibly damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,686 (GRCm39) |
I379V |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,315 (GRCm39) |
G367S |
probably benign |
Het |
| Fah |
C |
T |
7: 84,251,389 (GRCm39) |
R31Q |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,192,293 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,231 (GRCm39) |
D293G |
probably damaging |
Het |
| Gemin6 |
A |
C |
17: 80,535,414 (GRCm39) |
T125P |
probably damaging |
Het |
| Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
| Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,942,160 (GRCm39) |
I533T |
probably damaging |
Het |
| H2-M9 |
A |
T |
17: 36,952,678 (GRCm39) |
Y123N |
probably damaging |
Het |
| Hipk2 |
C |
A |
6: 38,692,909 (GRCm39) |
D868Y |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,945,694 (GRCm39) |
I805T |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,027,917 (GRCm39) |
L123P |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,779,990 (GRCm39) |
N287K |
possibly damaging |
Het |
| Kdm8 |
G |
A |
7: 125,051,511 (GRCm39) |
G35S |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 87,003,093 (GRCm39) |
A100D |
possibly damaging |
Het |
| Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
| Mfsd12 |
C |
A |
10: 81,193,515 (GRCm39) |
H28Q |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,188,744 (GRCm39) |
V837M |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,278,347 (GRCm39) |
I26T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,848,623 (GRCm39) |
R175G |
probably benign |
Het |
| Or10ag57 |
T |
G |
2: 87,218,175 (GRCm39) |
I42R |
probably damaging |
Het |
| Or5ac23 |
A |
G |
16: 59,149,654 (GRCm39) |
S73P |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 87,856,016 (GRCm39) |
S317T |
probably benign |
Het |
| Or8g52 |
T |
C |
9: 39,630,709 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,228,633 (GRCm39) |
Q1511* |
probably null |
Het |
| Piezo2 |
G |
T |
18: 63,211,852 (GRCm39) |
T1311K |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,953,241 (GRCm39) |
Y1218C |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,546,364 (GRCm39) |
S905T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,285,867 (GRCm39) |
D1035E |
probably damaging |
Het |
| Pkn3 |
G |
C |
2: 29,979,989 (GRCm39) |
G744A |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,376,405 (GRCm39) |
V795D |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,101,026 (GRCm39) |
R630* |
probably null |
Het |
| Scd4 |
T |
A |
19: 44,322,617 (GRCm39) |
I70N |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Slc9c1 |
A |
C |
16: 45,374,618 (GRCm39) |
T328P |
probably damaging |
Het |
| Spata31d1b |
G |
C |
13: 59,864,194 (GRCm39) |
L447F |
probably benign |
Het |
| Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tbcel |
C |
A |
9: 42,362,957 (GRCm39) |
G29W |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,414,468 (GRCm39) |
S57P |
possibly damaging |
Het |
| Tmem240 |
T |
A |
4: 155,824,304 (GRCm39) |
D125E |
possibly damaging |
Het |
| Ttll7 |
G |
A |
3: 146,667,510 (GRCm39) |
C792Y |
possibly damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,112 (GRCm39) |
I255F |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,734,388 (GRCm39) |
I554F |
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 |
|
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 |
|
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'- GATGGGAGCTTGTTAGAAATGC -3'
(R):5'- AGGCCAGCTTGATTCCACTG -3'
Sequencing Primer
(F):5'- GGGAGCTTGTTAGAAATGCTAATCC -3'
(R):5'- CAGCTTGATTCCACTGTGGGAAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation