Incidental Mutation 'R4211:Pcgf5'
ID |
319223 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcgf5
|
Ensembl Gene |
ENSMUSG00000024805 |
Gene Name |
polycomb group ring finger 5 |
Synonyms |
0610009F02Rik, 9530023M17Rik, 5830406C17Rik, 5830443C21Rik, 1110054A01Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
R4211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
36325729-36438370 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 36414740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 26
(N26K)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062389]
[ENSMUST00000071267]
[ENSMUST00000224679]
[ENSMUST00000224772]
[ENSMUST00000224971]
[ENSMUST00000225411]
[ENSMUST00000225920]
|
AlphaFold |
Q3UK78 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062389
AA Change: N101K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000058730 Gene: ENSMUSG00000024805 AA Change: N101K
Domain | Start | End | E-Value | Type |
RING
|
18 |
56 |
4.05e-5 |
SMART |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
Pfam:RAWUL
|
146 |
230 |
2.4e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071267
AA Change: N101K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000071245 Gene: ENSMUSG00000024805 AA Change: N101K
Domain | Start | End | E-Value | Type |
RING
|
18 |
56 |
4.05e-5 |
SMART |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
Pfam:RAWUL
|
146 |
230 |
2.4e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224679
AA Change: N101K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224772
AA Change: N100K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224859
AA Change: N26K
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224971
AA Change: N101K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225411
AA Change: N101K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225920
AA Change: N101K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225050
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Bone marrow cells from mice homozygous for a conditional allele exhibit normal hematopoietic and progenitor cell function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
Albfm1 |
T |
G |
5: 90,712,096 (GRCm39) |
V63G |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,955,968 (GRCm39) |
E154G |
probably benign |
Het |
Anpep |
A |
T |
7: 79,490,744 (GRCm39) |
Y257* |
probably null |
Het |
Atp8b1 |
A |
T |
18: 64,686,118 (GRCm39) |
D688E |
probably damaging |
Het |
Bub1b |
C |
A |
2: 118,461,459 (GRCm39) |
H670Q |
possibly damaging |
Het |
Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,154,783 (GRCm39) |
|
probably null |
Het |
Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
Cr2 |
A |
C |
1: 194,838,636 (GRCm39) |
L671R |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,427,542 (GRCm39) |
V713A |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,422,210 (GRCm39) |
F65L |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
Dusp22 |
A |
T |
13: 30,892,726 (GRCm39) |
I168F |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,079,872 (GRCm39) |
S414P |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,174,810 (GRCm39) |
F1968L |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,374,547 (GRCm39) |
F66I |
possibly damaging |
Het |
Hgf |
T |
C |
5: 16,819,991 (GRCm39) |
V574A |
probably damaging |
Het |
Hoxa7 |
A |
T |
6: 52,193,605 (GRCm39) |
Y137* |
probably null |
Het |
Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,738,070 (GRCm39) |
|
probably benign |
Het |
Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
Lepr |
C |
T |
4: 101,590,611 (GRCm39) |
A63V |
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,660,428 (GRCm39) |
V238L |
probably damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,317,729 (GRCm39) |
E172G |
possibly damaging |
Het |
Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
Nek8 |
C |
A |
11: 78,061,309 (GRCm39) |
V379L |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
Pard6b |
C |
T |
2: 167,940,943 (GRCm39) |
A310V |
probably benign |
Het |
Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
Plch1 |
C |
A |
3: 63,618,640 (GRCm39) |
D675Y |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,532,871 (GRCm39) |
H144R |
probably damaging |
Het |
Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Smarcd2 |
T |
A |
11: 106,157,731 (GRCm39) |
K138* |
probably null |
Het |
Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,856 (GRCm39) |
I226V |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
Tfpt |
A |
G |
7: 3,623,386 (GRCm39) |
Y240H |
probably damaging |
Het |
Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
Top3b |
A |
G |
16: 16,700,396 (GRCm39) |
|
probably null |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
probably damaging |
Het |
|
Other mutations in Pcgf5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01012:Pcgf5
|
APN |
19 |
36,420,268 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Pcgf5
|
APN |
19 |
36,412,076 (GRCm39) |
splice site |
probably benign |
|
IGL03259:Pcgf5
|
APN |
19 |
36,433,059 (GRCm39) |
missense |
probably benign |
0.28 |
Baleen
|
UTSW |
19 |
36,420,311 (GRCm39) |
missense |
probably damaging |
0.99 |
whalebone
|
UTSW |
19 |
36,420,339 (GRCm39) |
nonsense |
probably null |
|
R0318:Pcgf5
|
UTSW |
19 |
36,389,590 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0570:Pcgf5
|
UTSW |
19 |
36,389,580 (GRCm39) |
missense |
probably benign |
0.00 |
R0890:Pcgf5
|
UTSW |
19 |
36,389,544 (GRCm39) |
missense |
probably benign |
0.05 |
R2238:Pcgf5
|
UTSW |
19 |
36,414,754 (GRCm39) |
missense |
probably damaging |
0.97 |
R2239:Pcgf5
|
UTSW |
19 |
36,414,754 (GRCm39) |
missense |
probably damaging |
0.97 |
R3904:Pcgf5
|
UTSW |
19 |
36,417,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R4050:Pcgf5
|
UTSW |
19 |
36,420,311 (GRCm39) |
missense |
probably damaging |
0.99 |
R4209:Pcgf5
|
UTSW |
19 |
36,414,740 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4210:Pcgf5
|
UTSW |
19 |
36,414,740 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5202:Pcgf5
|
UTSW |
19 |
36,414,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R5997:Pcgf5
|
UTSW |
19 |
36,412,003 (GRCm39) |
missense |
probably benign |
0.35 |
R6039:Pcgf5
|
UTSW |
19 |
36,420,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Pcgf5
|
UTSW |
19 |
36,420,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Pcgf5
|
UTSW |
19 |
36,420,339 (GRCm39) |
nonsense |
probably null |
|
R8076:Pcgf5
|
UTSW |
19 |
36,417,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R8773:Pcgf5
|
UTSW |
19 |
36,389,348 (GRCm39) |
splice site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGATAACACGTTGGAGG -3'
(R):5'- TTTCCTGTCTTGAAACTATGGCTAG -3'
Sequencing Primer
(F):5'- TGGATAACACGTTGGAGGAAATTATC -3'
(R):5'- AACTATGGCTAGTATTTCTATCCCG -3'
|
Posted On |
2015-06-10 |