Incidental Mutation 'R3902:Pogk'
| ID |
309217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pogk
|
| Ensembl Gene |
ENSMUSG00000040596 |
| Gene Name |
pogo transposable element with KRAB domain |
| Synonyms |
BASS2, 9130401E23Rik |
| MMRRC Submission |
040811-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R3902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
166221179-166237402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 166231193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 45
(V45I)
|
| 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: V45I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: V45I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
KRAB
|
47 |
105 |
6.31e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128861
AA Change: V52I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: V52I
| 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 |
possibly damaging
Transcript: ENSMUST00000131487
AA Change: V52I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: V52I
| 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 |
possibly damaging
Transcript: ENSMUST00000135673
AA Change: V64I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: V64I
| 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 |
possibly damaging
Transcript: ENSMUST00000169324
AA Change: V64I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: V64I
| 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 |
|
| Meta Mutation Damage Score |
0.1971 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Eif2b3 |
C |
T |
4: 116,879,404 (GRCm39) |
R15W |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbxl20 |
T |
A |
11: 97,987,861 (GRCm39) |
T61S |
probably benign |
Het |
| Fry |
A |
G |
5: 150,269,392 (GRCm39) |
E211G |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,989,014 (GRCm39) |
L215P |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,418,526 (GRCm39) |
M1T |
probably null |
Het |
| Hacd4 |
A |
C |
4: 88,355,738 (GRCm39) |
I49R |
probably damaging |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,016 (GRCm39) |
D217G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Mettl21a |
C |
T |
1: 64,647,240 (GRCm39) |
V106I |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,225,353 (GRCm39) |
V1427A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,052,526 (GRCm39) |
D1024V |
probably damaging |
Het |
| Myl7 |
T |
A |
11: 5,848,430 (GRCm39) |
K38M |
probably damaging |
Het |
| Myl7 |
T |
G |
11: 5,848,431 (GRCm39) |
K38Q |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,165 (GRCm39) |
V701A |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,730 (GRCm39) |
S1021P |
possibly damaging |
Het |
| Optc |
A |
G |
1: 133,825,701 (GRCm39) |
M275T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,762,536 (GRCm39) |
T385S |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,740,276 (GRCm39) |
T315I |
probably damaging |
Het |
| Plekhn1 |
T |
A |
4: 156,310,126 (GRCm39) |
I63F |
possibly damaging |
Het |
| Rassf1 |
A |
G |
9: 107,432,039 (GRCm39) |
Y21C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,113 (GRCm39) |
I562F |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,349,387 (GRCm39) |
S141P |
probably damaging |
Het |
| Sntn |
T |
C |
14: 13,679,084 (GRCm38) |
L86P |
probably damaging |
Het |
| Styx-ps |
A |
G |
X: 67,865,253 (GRCm39) |
M101V |
probably benign |
Het |
| Taar4 |
T |
A |
10: 23,836,913 (GRCm39) |
N174K |
probably damaging |
Het |
| Trav12-3 |
G |
T |
14: 53,859,486 (GRCm39) |
C44F |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,643,397 (GRCm39) |
R240G |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,241 (GRCm39) |
M22T |
probably benign |
Het |
| Vmn2r7 |
C |
A |
3: 64,626,937 (GRCm39) |
Q26H |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,943 (GRCm39) |
D470G |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,719,581 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,603,028 (GRCm39) |
T241A |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,023,775 (GRCm39) |
K498E |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,799,326 (GRCm39) |
L2392P |
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 |
|
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 |
|
R6708:Pogk
|
UTSW |
1 |
166,231,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTTGGAGAGTCCCAGAGAC -3'
(R):5'- TGACTTTGAAATCCCAGGAGAAC -3'
Sequencing Primer
(F):5'- GACAAAGGAGAACAAGGCATTACCC -3'
(R):5'- TCAGTACCTGATGATGCCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation