Incidental Mutation 'R6708:Pogk'
| ID |
529004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pogk
|
| Ensembl Gene |
ENSMUSG00000040596 |
| Gene Name |
pogo transposable element with KRAB domain |
| Synonyms |
BASS2, 9130401E23Rik |
| MMRRC Submission |
044826-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R6708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
166221179-166237402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166231078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 83
(V83A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127596]
[ENSMUST00000128861]
[ENSMUST00000131487]
[ENSMUST00000135673]
[ENSMUST00000148243]
[ENSMUST00000169324]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127596
AA Change: V83A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: V83A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
KRAB
|
47 |
105 |
6.31e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128861
AA Change: V90A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: V90A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
KRAB
|
47 |
107 |
1.53e-19 |
SMART |
|
Pfam:BrkDBD
|
195 |
247 |
2.1e-29 |
PFAM |
|
CENPB
|
256 |
323 |
3.93e-21 |
SMART |
|
Pfam:DDE_1
|
355 |
567 |
1.4e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131487
AA Change: V90A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: V90A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
KRAB
|
47 |
107 |
1.53e-19 |
SMART |
|
Pfam:BrkDBD
|
195 |
247 |
2.1e-29 |
PFAM |
|
CENPB
|
256 |
323 |
3.93e-21 |
SMART |
|
Pfam:DDE_1
|
355 |
567 |
1.4e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135673
AA Change: V102A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: V102A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
KRAB
|
47 |
107 |
1.53e-19 |
SMART |
|
Pfam:BrkDBD
|
195 |
247 |
2.1e-29 |
PFAM |
|
CENPB
|
256 |
323 |
3.93e-21 |
SMART |
|
Pfam:DDE_1
|
355 |
567 |
1.4e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148243
|
| SMART Domains |
Protein: ENSMUSP00000118877
Gene: ENSMUSG00000040596
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169324
AA Change: V102A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: V102A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
KRAB
|
66 |
126 |
1.53e-19 |
SMART |
|
Pfam:BrkDBD
|
214 |
266 |
8.7e-29 |
PFAM |
|
CENPB
|
275 |
342 |
3.93e-21 |
SMART |
|
Pfam:DDE_1
|
414 |
586 |
1.5e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
C |
8: 41,249,531 (GRCm39) |
L547P |
probably damaging |
Het |
| Atp8b5 |
T |
G |
4: 43,334,249 (GRCm39) |
H338Q |
probably benign |
Het |
| Btbd3 |
A |
G |
2: 138,125,491 (GRCm39) |
E225G |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,294 (GRCm39) |
I409T |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,048,709 (GRCm39) |
S122T |
probably benign |
Het |
| Col5a3 |
G |
A |
9: 20,686,331 (GRCm39) |
P1382L |
unknown |
Het |
| Ehmt2 |
A |
T |
17: 35,118,875 (GRCm39) |
K186* |
probably null |
Het |
| Elavl2 |
A |
T |
4: 91,141,634 (GRCm39) |
I295N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,279,334 (GRCm39) |
D185G |
probably damaging |
Het |
| Emx1 |
A |
G |
6: 85,171,122 (GRCm39) |
E175G |
probably damaging |
Het |
| Fan1 |
T |
G |
7: 64,022,554 (GRCm39) |
N233T |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,492,922 (GRCm39) |
I1865F |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,427,739 (GRCm39) |
D352G |
probably benign |
Het |
| Klhdc1 |
A |
T |
12: 69,306,304 (GRCm39) |
H247L |
possibly damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,937,253 (GRCm39) |
T425S |
probably benign |
Het |
| Mrpl21 |
T |
C |
19: 3,336,890 (GRCm39) |
V87A |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,014,103 (GRCm39) |
M1K |
probably null |
Het |
| Or5ac21 |
T |
A |
16: 59,124,416 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,505 (GRCm39) |
H29Q |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,587,692 (GRCm39) |
|
probably null |
Het |
| Synm |
T |
C |
7: 67,382,994 (GRCm39) |
E1556G |
possibly damaging |
Het |
| Tmem109 |
C |
A |
19: 10,849,395 (GRCm39) |
L153F |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,791 (GRCm39) |
T74A |
probably damaging |
Het |
| Zfp180 |
A |
T |
7: 23,805,521 (GRCm39) |
T647S |
probably damaging |
Het |
|
| Other mutations in Pogk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Pogk
|
APN |
1 |
166,236,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Pogk
|
UTSW |
1 |
166,231,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Pogk
|
UTSW |
1 |
166,227,707 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1556:Pogk
|
UTSW |
1 |
166,226,402 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1752:Pogk
|
UTSW |
1 |
166,235,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3625:Pogk
|
UTSW |
1 |
166,231,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Pogk
|
UTSW |
1 |
166,231,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Pogk
|
UTSW |
1 |
166,231,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4288:Pogk
|
UTSW |
1 |
166,231,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Pogk
|
UTSW |
1 |
166,226,334 (GRCm39) |
nonsense |
probably null |
|
|
R5079:Pogk
|
UTSW |
1 |
166,226,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Pogk
|
UTSW |
1 |
166,236,580 (GRCm39) |
intron |
probably benign |
|
|
R6488:Pogk
|
UTSW |
1 |
166,226,991 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7603:Pogk
|
UTSW |
1 |
166,229,480 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8100:Pogk
|
UTSW |
1 |
166,229,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8950:Pogk
|
UTSW |
1 |
166,226,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Pogk
|
UTSW |
1 |
166,227,254 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9246:Pogk
|
UTSW |
1 |
166,226,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9272:Pogk
|
UTSW |
1 |
166,226,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Pogk
|
UTSW |
1 |
166,227,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0010:Pogk
|
UTSW |
1 |
166,226,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGAAATTAGGTTGACATAGGC -3'
(R):5'- GTGAGCATATAGACAGAGCACC -3'
Sequencing Primer
(F):5'- AAATTAGGTTGACATAGGCTTGGGC -3'
(R):5'- CCCTGAAGTGACCTGTGAGAATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation