Incidental Mutation 'R3625:Pogk'
| ID |
269363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pogk
|
| Ensembl Gene |
ENSMUSG00000040596 |
| Gene Name |
pogo transposable element with KRAB domain |
| Synonyms |
BASS2, 9130401E23Rik |
| MMRRC Submission |
040679-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R3625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
166221179-166237402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 166231081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 82
(T82I)
|
| 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: T82I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: T82I
| 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: T89I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: T89I
| 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: T89I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: T89I
| 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: T101I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: T101I
| 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: T101I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: T101I
| 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 |
0.5372 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| 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 |
|---|
| Acte1 |
T |
C |
7: 143,425,591 (GRCm39) |
V80A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg3 |
T |
A |
16: 44,995,624 (GRCm39) |
I119N |
probably benign |
Het |
| Cdh12 |
G |
C |
15: 21,358,842 (GRCm39) |
V89L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,270,310 (GRCm39) |
H396N |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dab2ip |
C |
A |
2: 35,533,903 (GRCm39) |
S43* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,300,927 (GRCm39) |
S2394P |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,082,067 (GRCm39) |
N546H |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,814 (GRCm39) |
N1449S |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,979,175 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
A |
18: 42,131,883 (GRCm39) |
D62V |
probably damaging |
Het |
| H2bc8 |
T |
C |
13: 23,755,625 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
T |
4: 88,609,016 (GRCm39) |
I150N |
probably damaging |
Het |
| Igsf8 |
T |
C |
1: 172,145,336 (GRCm39) |
V284A |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,288,419 (GRCm39) |
E388G |
possibly damaging |
Het |
| Map3k8 |
G |
A |
18: 4,333,965 (GRCm39) |
R376C |
probably damaging |
Het |
| Map6 |
A |
T |
7: 98,918,402 (GRCm39) |
T189S |
possibly damaging |
Het |
| Mms22l |
T |
A |
4: 24,505,357 (GRCm39) |
S206T |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,578,337 (GRCm39) |
L676S |
probably damaging |
Het |
| Nkx6-2 |
A |
G |
7: 139,162,106 (GRCm39) |
F117S |
possibly damaging |
Het |
| Ociad2 |
C |
T |
5: 73,481,173 (GRCm39) |
C72Y |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,346 (GRCm39) |
C184* |
probably null |
Het |
| Or52e15 |
A |
T |
7: 104,645,191 (GRCm39) |
F307I |
probably benign |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,193 (GRCm39) |
V21L |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,731 (GRCm39) |
S296G |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,922,548 (GRCm39) |
E283G |
probably null |
Het |
| Prkd3 |
C |
T |
17: 79,292,733 (GRCm39) |
R113H |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,240,961 (GRCm39) |
|
probably null |
Het |
| Rec8 |
T |
C |
14: 55,859,954 (GRCm39) |
I234T |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,432 (GRCm39) |
H394L |
probably benign |
Het |
| Thy1 |
A |
G |
9: 43,958,028 (GRCm39) |
E52G |
probably damaging |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,543 (GRCm39) |
I4F |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,177,768 (GRCm39) |
T76A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,599,145 (GRCm39) |
I19288T |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,920 (GRCm39) |
T172I |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,893,105 (GRCm39) |
L678Q |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,668 (GRCm39) |
H74R |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,056,273 (GRCm39) |
I100V |
probably benign |
Het |
| Zfp36 |
C |
A |
7: 28,077,681 (GRCm39) |
A76S |
probably benign |
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 |
|
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 |
|
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'- TTGTCTCCAAGAGCAGTGAG -3'
Sequencing Primer
(F):5'- AAATTAGGTTGACATAGGCTTGGGC -3'
(R):5'- CCCTGAAGTGACCTGTGAGAATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation