Incidental Mutation 'R0890:Pcgf5'
| ID |
83487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcgf5
|
| Ensembl Gene |
ENSMUSG00000024805 |
| Gene Name |
polycomb group ring finger 5 |
| Synonyms |
0610009F02Rik, 9530023M17Rik, 5830406C17Rik, 5830443C21Rik, 1110054A01Rik |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
36325729-36438370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36389544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 7
(H7L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153206
(fasta)
|
| 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: H7L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000058730
Gene: ENSMUSG00000024805
AA Change: H7L
| 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: H7L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000071245
Gene: ENSMUSG00000024805
AA Change: H7L
| 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: H7L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224772
AA Change: H7L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224971
AA Change: H7L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225411
AA Change: H7L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225920
AA Change: H7L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
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 |
|
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 |
|
R4211: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'- AGGCTCCTGATAGGAAGTCAAGCAG -3'
(R):5'- GTTTTAAAGGCACGCACGCACG -3'
Sequencing Primer
(F):5'- CAATAAAGGTTGTGTCCTGCTC -3'
(R):5'- GTCGTGGGCTTGATCAGATA -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation