Incidental Mutation 'R6104:Pogz'
ID |
485416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pogz
|
Ensembl Gene |
ENSMUSG00000038902 |
Gene Name |
pogo transposable element with ZNF domain |
Synonyms |
9530006B08Rik |
MMRRC Submission |
044254-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.771)
|
Stock # |
R6104 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94744878-94789637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94787342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1310
(D1310G)
|
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 benign
Transcript: ENSMUST00000042402
AA Change: D1301G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000037523 Gene: ENSMUSG00000038902 AA Change: D1301G
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 benign
Transcript: ENSMUST00000107266
AA Change: D1257G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102887 Gene: ENSMUSG00000038902 AA Change: D1257G
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: D1215G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102890 Gene: ENSMUSG00000038902 AA Change: D1215G
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 benign
Transcript: ENSMUST00000107270
AA Change: D1310G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102891 Gene: ENSMUSG00000038902 AA Change: D1310G
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: ENSMUST00000133412
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136143
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
A |
T |
4: 106,613,094 (GRCm39) |
L327Q |
probably damaging |
Het |
Atrip |
C |
T |
9: 108,894,632 (GRCm39) |
A432T |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,856,052 (GRCm39) |
T736A |
probably damaging |
Het |
Cyp1b1 |
T |
A |
17: 80,017,634 (GRCm39) |
Y507F |
probably damaging |
Het |
Desi2 |
G |
A |
1: 178,077,018 (GRCm39) |
R174H |
probably benign |
Het |
Dop1a |
A |
T |
9: 86,402,860 (GRCm39) |
K1351N |
possibly damaging |
Het |
Fads2b |
T |
A |
2: 85,338,693 (GRCm39) |
K149* |
probably null |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Fzd2 |
T |
C |
11: 102,497,161 (GRCm39) |
I535T |
probably damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
Grm6 |
T |
A |
11: 50,750,144 (GRCm39) |
I466N |
possibly damaging |
Het |
Il17a |
A |
G |
1: 20,802,498 (GRCm39) |
Y69C |
probably damaging |
Het |
Itgam |
A |
G |
7: 127,715,474 (GRCm39) |
D938G |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,504,127 (GRCm39) |
D316G |
probably benign |
Het |
Lrba |
C |
A |
3: 86,261,099 (GRCm39) |
A1485E |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,935,319 (GRCm39) |
T1483I |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,157 (GRCm39) |
|
probably benign |
Het |
Myo5b |
T |
A |
18: 74,833,750 (GRCm39) |
I842N |
probably benign |
Het |
Nckap5l |
C |
T |
15: 99,321,869 (GRCm39) |
S1092N |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,265,250 (GRCm39) |
S273P |
probably damaging |
Het |
Nt5c1b |
A |
G |
12: 10,422,955 (GRCm39) |
N83D |
probably damaging |
Het |
Oas3 |
T |
A |
5: 120,899,758 (GRCm39) |
I709F |
unknown |
Het |
Or1p1 |
C |
A |
11: 74,180,192 (GRCm39) |
T240N |
probably damaging |
Het |
Or8i2 |
T |
C |
2: 86,852,057 (GRCm39) |
Y277C |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,045,311 (GRCm39) |
S949P |
possibly damaging |
Het |
Pxylp1 |
A |
C |
9: 96,706,800 (GRCm39) |
F461V |
possibly damaging |
Het |
Rcn3 |
A |
G |
7: 44,740,947 (GRCm39) |
Y54H |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,843,606 (GRCm39) |
H242R |
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,519,407 (GRCm39) |
D735E |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,624,744 (GRCm39) |
I526T |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,556,781 (GRCm39) |
V211A |
possibly damaging |
Het |
Syt10 |
A |
T |
15: 89,711,067 (GRCm39) |
H155Q |
probably benign |
Het |
Taar8b |
A |
T |
10: 23,968,135 (GRCm39) |
S20T |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,486,496 (GRCm39) |
I988F |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,084 (GRCm39) |
I202K |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,856,130 (GRCm39) |
S17P |
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,578,931 (GRCm39) |
T614A |
probably benign |
Het |
Vmn2r80 |
A |
C |
10: 78,984,854 (GRCm39) |
N69H |
probably benign |
Het |
Xylb |
T |
A |
9: 119,193,573 (GRCm39) |
*66R |
probably null |
Het |
Ylpm1 |
G |
A |
12: 85,076,404 (GRCm39) |
R1043H |
probably benign |
Het |
Ythdf3 |
G |
A |
3: 16,259,325 (GRCm39) |
V491I |
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 |
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'- TGTAGCTCCAAAATCCAGCC -3'
(R):5'- AAGCTGGTGAAGGCTTTCAGG -3'
Sequencing Primer
(F):5'- ATCCAGCCACTAGATGTATGC -3'
(R):5'- GCTCGACTGTCTCTTCAGGAG -3'
|
Posted On |
2017-08-16 |