Incidental Mutation 'R5999:Pogz'
ID |
480709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pogz
|
Ensembl Gene |
ENSMUSG00000038902 |
Gene Name |
pogo transposable element with ZNF domain |
Synonyms |
9530006B08Rik |
MMRRC Submission |
044178-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.771)
|
Stock # |
R5999 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
94744878-94789637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94763428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042402]
[ENSMUST00000107266]
[ENSMUST00000107269]
[ENSMUST00000107270]
|
AlphaFold |
Q8BZH4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042402
AA Change: T67A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037523 Gene: ENSMUSG00000038902 AA Change: T67A
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 benign
Transcript: ENSMUST00000107266
|
SMART Domains |
Protein: ENSMUSP00000102887 Gene: ENSMUSG00000038902
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
AA Change: T67A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102890 Gene: ENSMUSG00000038902 AA Change: T67A
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 |
possibly damaging
Transcript: ENSMUST00000107270
AA Change: T67A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102891 Gene: ENSMUSG00000038902 AA Change: T67A
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
|
Meta Mutation Damage Score |
0.0828 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (55/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
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 |
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'- TTGGCTGTCAAAACACAAAGG -3'
(R):5'- GTCCTGCACTGACTGAAGAAC -3'
Sequencing Primer
(F):5'- TGGCTGTCAAAACACAAAGGAATGAG -3'
(R):5'- GTGTTCCTTCCACGCAAACAG -3'
|
Posted On |
2017-06-26 |