Incidental Mutation 'R4288:Pogk'
| ID |
322085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pogk
|
| Ensembl Gene |
ENSMUSG00000040596 |
| Gene Name |
pogo transposable element with KRAB domain |
| Synonyms |
BASS2, 9130401E23Rik |
| MMRRC Submission |
041653-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R4288 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166221179-166237402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166231075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 84
(L84P)
|
| 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: L84P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: L84P
| 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: L91P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: L91P
| 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: L91P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: L91P
| 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: L103P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: L103P
| 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: L103P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: L103P
| 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 |
0.9209 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (34/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
| Adss2 |
G |
A |
1: 177,604,078 (GRCm39) |
R176W |
probably damaging |
Het |
| Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
| Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
| Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
| Exosc9 |
C |
T |
3: 36,617,365 (GRCm39) |
T373I |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,088,922 (GRCm39) |
V381A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,827 (GRCm39) |
Y183H |
probably benign |
Het |
| Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,666 (GRCm39) |
S658N |
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 |
|
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'- CCAGGAAATTAGGTTGACATAGGC -3'
(R):5'- TGTCTCCAAGAGCAGTGAGC -3'
Sequencing Primer
(F):5'- AAATTAGGTTGACATAGGCTTGGGC -3'
(R):5'- CCCTGAAGTGACCTGTGAGAATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation