Incidental Mutation 'R3904:Pcgf5'
| ID |
309120 |
| 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 |
040812-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R3904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36325729-36438370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36417495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 140
(I140T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062389]
[ENSMUST00000071267]
[ENSMUST00000224679]
[ENSMUST00000224772]
[ENSMUST00000224971]
[ENSMUST00000225411]
[ENSMUST00000225920]
|
| AlphaFold |
Q3UK78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062389
AA Change: I141T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058730
Gene: ENSMUSG00000024805
AA Change: I141T
| 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 damaging
Transcript: ENSMUST00000071267
AA Change: I141T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071245
Gene: ENSMUSG00000024805
AA Change: I141T
| 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 damaging
Transcript: ENSMUST00000224679
AA Change: I141T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224772
AA Change: I140T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224859
AA Change: I66T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225185
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225411
AA Change: I141T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225920
AA Change: I141T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3304 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,772,400 (GRCm39) |
I530L |
probably benign |
Het |
| 5930422O12Rik |
T |
C |
8: 33,919,467 (GRCm39) |
S96P |
probably damaging |
Het |
| Acot4 |
A |
G |
12: 84,090,101 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,598,660 (GRCm39) |
D1631G |
probably benign |
Het |
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,484,439 (GRCm39) |
F1175S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,860,867 (GRCm39) |
F337S |
probably damaging |
Het |
| Bub1 |
A |
C |
2: 127,663,862 (GRCm39) |
I207S |
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,440,445 (GRCm39) |
L405M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Esp3 |
A |
T |
17: 40,946,820 (GRCm39) |
T48S |
possibly damaging |
Het |
| Fmo1 |
G |
T |
1: 162,661,337 (GRCm39) |
N315K |
possibly damaging |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,867 (GRCm39) |
S438P |
possibly damaging |
Het |
| Jsrp1 |
T |
A |
10: 80,648,246 (GRCm39) |
M1L |
probably benign |
Het |
| Klra14-ps |
T |
A |
6: 130,129,512 (GRCm39) |
|
noncoding transcript |
Het |
| Mrm3 |
A |
G |
11: 76,135,112 (GRCm39) |
M108V |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,228,866 (GRCm39) |
F61I |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,556,592 (GRCm39) |
|
probably benign |
Het |
| Or2y10 |
T |
C |
11: 49,455,585 (GRCm39) |
I279T |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,801 (GRCm39) |
L684P |
probably benign |
Het |
| Psmd10 |
T |
C |
X: 139,850,052 (GRCm39) |
*152W |
probably null |
Het |
| Ptpn23 |
A |
C |
9: 110,218,313 (GRCm39) |
M600R |
probably benign |
Het |
| Pxmp4 |
C |
T |
2: 154,429,969 (GRCm39) |
R140H |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,211 (GRCm39) |
E410G |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Shld2 |
A |
G |
14: 33,981,666 (GRCm39) |
W491R |
probably damaging |
Het |
| Slc46a3 |
C |
T |
5: 147,823,264 (GRCm39) |
E193K |
probably benign |
Het |
| Snap23 |
A |
C |
2: 120,429,815 (GRCm39) |
D209A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,638,011 (GRCm39) |
Q656* |
probably null |
Het |
| Tshz2 |
A |
G |
2: 169,726,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,670,638 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,678,455 (GRCm39) |
Q2011* |
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,358,099 (GRCm39) |
T57A |
probably benign |
Het |
| Zfp518a |
C |
T |
19: 40,903,364 (GRCm39) |
Q1098* |
probably null |
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 |
|
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'- CAGTCAGTCTTCAGAGAGGTTATG -3'
(R):5'- ACTAGATGGTGGCACTGGTC -3'
Sequencing Primer
(F):5'- ATGAAATATTTTAGGTTGGTCATTGC -3'
(R):5'- CACTGGTCTGGGAGAACTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation