Incidental Mutation 'R5089:Phf20'
ID |
387623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf20
|
Ensembl Gene |
ENSMUSG00000038116 |
Gene Name |
PHD finger protein 20 |
Synonyms |
6820402O20Rik |
MMRRC Submission |
042678-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R5089 (G1)
|
Quality Score |
131 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 156144782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 797
(H797N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
AlphaFold |
Q8BLG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037401
AA Change: H797N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043138 Gene: ENSMUSG00000038116 AA Change: H797N
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: ENSMUST00000147242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
98% (65/66) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
T |
C |
8: 117,698,672 (GRCm39) |
N145S |
possibly damaging |
Het |
Acp2 |
T |
C |
2: 91,042,267 (GRCm39) |
|
probably benign |
Het |
Adgrf2 |
G |
A |
17: 43,020,988 (GRCm39) |
A612V |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,651 (GRCm39) |
D2676E |
probably benign |
Het |
Cct3 |
T |
G |
3: 88,208,150 (GRCm39) |
M46R |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,809,811 (GRCm39) |
D200G |
probably benign |
Het |
Cdh9 |
T |
A |
15: 16,778,362 (GRCm39) |
F59Y |
probably damaging |
Het |
Cluh |
A |
G |
11: 74,551,198 (GRCm39) |
E349G |
probably damaging |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
Crbn |
T |
C |
6: 106,758,679 (GRCm39) |
H381R |
possibly damaging |
Het |
Crim1 |
A |
G |
17: 78,681,519 (GRCm39) |
D991G |
probably damaging |
Het |
Dhx16 |
A |
T |
17: 36,194,981 (GRCm39) |
M503L |
probably damaging |
Het |
Dthd1 |
A |
G |
5: 63,007,248 (GRCm39) |
T650A |
probably benign |
Het |
Etfa |
T |
A |
9: 55,396,150 (GRCm39) |
K139* |
probably null |
Het |
Flnc |
T |
C |
6: 29,447,812 (GRCm39) |
I1205T |
probably damaging |
Het |
Fzd6 |
T |
A |
15: 38,870,875 (GRCm39) |
C32S |
probably damaging |
Het |
Gm1110 |
T |
A |
9: 26,793,683 (GRCm39) |
D515V |
probably damaging |
Het |
Gm7676 |
T |
C |
8: 13,946,401 (GRCm39) |
|
noncoding transcript |
Het |
Gpr157 |
T |
C |
4: 150,186,750 (GRCm39) |
S293P |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,914,902 (GRCm39) |
D810G |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,876,942 (GRCm39) |
H1184R |
probably benign |
Het |
Hoxc5 |
A |
T |
15: 102,922,487 (GRCm39) |
|
probably benign |
Het |
Iah1 |
C |
T |
12: 21,373,309 (GRCm39) |
S196L |
possibly damaging |
Het |
Il5 |
C |
T |
11: 53,612,655 (GRCm39) |
T55I |
possibly damaging |
Het |
Kras |
T |
C |
6: 145,170,869 (GRCm39) |
K169E |
probably benign |
Het |
Larp1 |
C |
A |
11: 57,938,693 (GRCm39) |
T492K |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,314,328 (GRCm39) |
D203G |
probably damaging |
Het |
Lpcat2 |
G |
A |
8: 93,606,071 (GRCm39) |
V241M |
probably damaging |
Het |
Mpeg1 |
G |
A |
19: 12,440,361 (GRCm39) |
M606I |
probably benign |
Het |
Ms4a1 |
G |
A |
19: 11,236,176 (GRCm39) |
P4S |
probably benign |
Het |
Nat10 |
A |
T |
2: 103,587,488 (GRCm39) |
|
probably benign |
Het |
Ncaph2 |
T |
A |
15: 89,240,148 (GRCm39) |
|
probably null |
Het |
Nfat5 |
T |
A |
8: 108,078,070 (GRCm39) |
V403D |
probably damaging |
Het |
Or2y10 |
T |
A |
11: 49,455,240 (GRCm39) |
M164K |
possibly damaging |
Het |
Or4c109 |
A |
G |
2: 88,818,516 (GRCm39) |
F10S |
probably damaging |
Het |
Pax7 |
T |
C |
4: 139,557,576 (GRCm39) |
H65R |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,455,283 (GRCm39) |
S4015T |
probably benign |
Het |
Prdm5 |
C |
T |
6: 65,833,074 (GRCm39) |
H148Y |
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,400,054 (GRCm39) |
|
probably null |
Het |
Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
Sardh |
A |
G |
2: 27,129,625 (GRCm39) |
|
probably null |
Het |
Serpinb6b |
G |
A |
13: 33,162,133 (GRCm39) |
E192K |
probably benign |
Het |
Shfl |
A |
T |
9: 20,780,212 (GRCm39) |
M1L |
probably benign |
Het |
Skor1 |
A |
G |
9: 63,053,205 (GRCm39) |
S216P |
probably damaging |
Het |
Slc51a |
A |
G |
16: 32,296,364 (GRCm39) |
|
probably null |
Het |
Smarcb1 |
T |
C |
10: 75,751,013 (GRCm39) |
T74A |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,945,198 (GRCm39) |
Y107* |
probably null |
Het |
Spmip5 |
A |
T |
19: 58,774,678 (GRCm39) |
L176H |
probably damaging |
Het |
Stk25 |
T |
A |
1: 93,552,330 (GRCm39) |
K350M |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,355,444 (GRCm39) |
W379* |
probably null |
Het |
Taco1 |
A |
T |
11: 105,960,437 (GRCm39) |
E126V |
probably benign |
Het |
Tbc1d12 |
T |
A |
19: 38,905,232 (GRCm39) |
L649* |
probably null |
Het |
Trpm3 |
G |
A |
19: 22,744,120 (GRCm39) |
G238R |
probably damaging |
Het |
Yy1 |
C |
A |
12: 108,759,663 (GRCm39) |
Q109K |
probably damaging |
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 |
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 |
R6584:Phf20
|
UTSW |
2 |
156,136,043 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AGATATCCCAGGTAGAGGCC -3'
(R):5'- TTTGGGATCTATGTCGCCTC -3'
Sequencing Primer
(F):5'- GCCACTGTCCCTTACTGGAGAATG -3'
(R):5'- TGACTGCAGCATCAAGGGC -3'
|
Posted On |
2016-06-06 |