Incidental Mutation 'R6584:Phf20'
ID |
524260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf20
|
Ensembl Gene |
ENSMUSG00000038116 |
Gene Name |
PHD finger protein 20 |
Synonyms |
6820402O20Rik |
MMRRC Submission |
044708-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R6584 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156136043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 621
(S621P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
AlphaFold |
Q8BLG0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037401
AA Change: S621P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043138 Gene: ENSMUSG00000038116 AA Change: S621P
Domain | Start | End | E-Value | Type |
TUDOR
|
11 |
71 |
5.27e0 |
SMART |
TUDOR
|
85 |
141 |
7.13e-4 |
SMART |
AT_hook
|
257 |
269 |
1.65e0 |
SMART |
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
ZnF_C2H2
|
455 |
480 |
1.86e0 |
SMART |
low complexity region
|
486 |
493 |
N/A |
INTRINSIC |
low complexity region
|
526 |
555 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
PHD
|
657 |
701 |
2.83e-4 |
SMART |
coiled coil region
|
945 |
966 |
N/A |
INTRINSIC |
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
Amfr |
T |
C |
8: 94,700,783 (GRCm39) |
D559G |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,624,254 (GRCm39) |
Y711C |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,696,128 (GRCm39) |
N1122D |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,126,665 (GRCm39) |
I122T |
probably benign |
Het |
Ets1 |
T |
A |
9: 32,645,293 (GRCm39) |
F180Y |
probably damaging |
Het |
Fbxw14 |
C |
G |
9: 109,115,611 (GRCm39) |
C53S |
possibly damaging |
Het |
Ifna9 |
A |
G |
4: 88,510,375 (GRCm39) |
L83P |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,920,137 (GRCm39) |
C1401R |
probably damaging |
Het |
Il22 |
A |
T |
10: 118,040,932 (GRCm39) |
M13L |
probably benign |
Het |
Il9r |
A |
G |
11: 32,141,782 (GRCm39) |
Y319H |
probably benign |
Het |
Itgb5 |
T |
C |
16: 33,705,400 (GRCm39) |
F230S |
probably damaging |
Het |
Klk1b27 |
T |
A |
7: 43,703,935 (GRCm39) |
I26N |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,571,883 (GRCm39) |
R300C |
probably damaging |
Het |
Map3k4 |
A |
C |
17: 12,479,378 (GRCm39) |
Y730D |
probably damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,963,450 (GRCm39) |
H792Y |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,040 (GRCm39) |
T219S |
possibly damaging |
Het |
Slitrk3 |
C |
A |
3: 72,956,558 (GRCm39) |
G738V |
probably damaging |
Het |
Smurf1 |
T |
C |
5: 144,819,333 (GRCm39) |
D598G |
probably damaging |
Het |
St6galnac2 |
A |
G |
11: 116,585,330 (GRCm39) |
S19P |
probably benign |
Het |
Stra6l |
G |
A |
4: 45,869,635 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
C |
A |
8: 83,987,629 (GRCm39) |
Q863K |
probably damaging |
Het |
Traf1 |
T |
A |
2: 34,848,070 (GRCm39) |
D8V |
probably damaging |
Het |
Vmn2r24 |
T |
G |
6: 123,792,764 (GRCm39) |
M697R |
possibly damaging |
Het |
Wdr27 |
T |
A |
17: 15,122,031 (GRCm39) |
Y625F |
probably damaging |
Het |
Wdr49 |
T |
C |
3: 75,245,065 (GRCm39) |
M339V |
probably benign |
Het |
|
Other mutations in Phf20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00928:Phf20
|
APN |
2 |
156,146,736 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01071:Phf20
|
APN |
2 |
156,136,008 (GRCm39) |
splice site |
probably null |
|
IGL01125:Phf20
|
APN |
2 |
156,145,104 (GRCm39) |
splice site |
probably null |
|
IGL01608:Phf20
|
APN |
2 |
156,118,516 (GRCm39) |
missense |
probably benign |
|
IGL01610:Phf20
|
APN |
2 |
156,144,809 (GRCm39) |
nonsense |
probably null |
|
IGL01845:Phf20
|
APN |
2 |
156,118,577 (GRCm39) |
nonsense |
probably null |
|
IGL02364:Phf20
|
APN |
2 |
156,136,017 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02692:Phf20
|
APN |
2 |
156,140,498 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Phf20
|
APN |
2 |
156,140,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R0016:Phf20
|
UTSW |
2 |
156,109,114 (GRCm39) |
nonsense |
probably null |
|
R0189:Phf20
|
UTSW |
2 |
156,145,061 (GRCm39) |
missense |
probably benign |
0.02 |
R1532:Phf20
|
UTSW |
2 |
156,144,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1572:Phf20
|
UTSW |
2 |
156,129,754 (GRCm39) |
missense |
probably benign |
0.17 |
R2007:Phf20
|
UTSW |
2 |
156,129,874 (GRCm39) |
missense |
probably benign |
0.00 |
R2191:Phf20
|
UTSW |
2 |
156,118,574 (GRCm39) |
missense |
probably benign |
|
R3011:Phf20
|
UTSW |
2 |
156,129,946 (GRCm39) |
missense |
probably benign |
0.32 |
R3024:Phf20
|
UTSW |
2 |
156,129,787 (GRCm39) |
missense |
probably damaging |
0.96 |
R4242:Phf20
|
UTSW |
2 |
156,149,374 (GRCm39) |
unclassified |
probably benign |
|
R5053:Phf20
|
UTSW |
2 |
156,115,782 (GRCm39) |
missense |
probably benign |
0.00 |
R5089:Phf20
|
UTSW |
2 |
156,144,782 (GRCm39) |
missense |
probably benign |
|
R5382:Phf20
|
UTSW |
2 |
156,109,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R5649:Phf20
|
UTSW |
2 |
156,093,688 (GRCm39) |
splice site |
probably null |
|
R5707:Phf20
|
UTSW |
2 |
156,138,691 (GRCm39) |
splice site |
probably null |
|
R5751:Phf20
|
UTSW |
2 |
156,109,261 (GRCm39) |
missense |
probably benign |
0.01 |
R5805:Phf20
|
UTSW |
2 |
156,149,214 (GRCm39) |
missense |
probably damaging |
0.99 |
R5988:Phf20
|
UTSW |
2 |
156,149,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R6179:Phf20
|
UTSW |
2 |
156,140,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Phf20
|
UTSW |
2 |
156,065,320 (GRCm39) |
missense |
probably benign |
0.16 |
R6338:Phf20
|
UTSW |
2 |
156,115,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6351:Phf20
|
UTSW |
2 |
156,136,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7248:Phf20
|
UTSW |
2 |
156,135,331 (GRCm39) |
splice site |
probably null |
|
R7329:Phf20
|
UTSW |
2 |
156,146,552 (GRCm39) |
missense |
probably damaging |
0.96 |
R7387:Phf20
|
UTSW |
2 |
156,136,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R7528:Phf20
|
UTSW |
2 |
156,144,928 (GRCm39) |
nonsense |
probably null |
|
R7603:Phf20
|
UTSW |
2 |
156,144,771 (GRCm39) |
missense |
probably benign |
|
R7698:Phf20
|
UTSW |
2 |
156,136,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R7916:Phf20
|
UTSW |
2 |
156,129,858 (GRCm39) |
missense |
probably damaging |
0.96 |
R7968:Phf20
|
UTSW |
2 |
156,135,464 (GRCm39) |
missense |
probably benign |
0.00 |
R8415:Phf20
|
UTSW |
2 |
156,129,913 (GRCm39) |
missense |
probably benign |
0.07 |
R8843:Phf20
|
UTSW |
2 |
156,144,843 (GRCm39) |
missense |
probably benign |
|
R8849:Phf20
|
UTSW |
2 |
156,118,440 (GRCm39) |
missense |
probably damaging |
0.97 |
R9168:Phf20
|
UTSW |
2 |
156,109,234 (GRCm39) |
missense |
probably benign |
0.01 |
R9180:Phf20
|
UTSW |
2 |
156,114,537 (GRCm39) |
missense |
probably benign |
0.31 |
R9286:Phf20
|
UTSW |
2 |
156,134,470 (GRCm39) |
missense |
probably damaging |
0.98 |
R9297:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
R9318:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
R9414:Phf20
|
UTSW |
2 |
156,136,167 (GRCm39) |
missense |
probably benign |
0.38 |
RF011:Phf20
|
UTSW |
2 |
156,146,541 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF011:Phf20
|
UTSW |
2 |
156,146,540 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF028:Phf20
|
UTSW |
2 |
156,146,543 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1190:Phf20
|
UTSW |
2 |
156,129,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGAAGTGGGGACATTCG -3'
(R):5'- CTGTGTTCTGGAAACTACTTGC -3'
Sequencing Primer
(F):5'- CAGCAGGCATCATTTGAGCTG -3'
(R):5'- CTGGAAACTACTTGCCTGAATC -3'
|
Posted On |
2018-06-22 |