Incidental Mutation 'IGL01610:Phf20'
| ID |
91999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf20
|
| Ensembl Gene |
ENSMUSG00000038116 |
| Gene Name |
PHD finger protein 20 |
| Synonyms |
6820402O20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
IGL01610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 156144809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 806
(E806*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037401
AA Change: E806*
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: E806*
| 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
|
| Coding Region Coverage |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018A14Rik |
T |
C |
18: 46,332,633 (GRCm39) |
|
probably benign |
Het |
| 4921524J17Rik |
T |
C |
8: 86,138,871 (GRCm39) |
I73V |
probably benign |
Het |
| 4930562C15Rik |
T |
A |
16: 4,669,429 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,939,867 (GRCm39) |
V323D |
probably damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,781 (GRCm39) |
Y320C |
probably damaging |
Het |
| Acp6 |
T |
A |
3: 97,083,036 (GRCm39) |
V349D |
possibly damaging |
Het |
| Adcy9 |
G |
T |
16: 4,235,978 (GRCm39) |
Q478K |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,369,928 (GRCm39) |
I1843V |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,397,353 (GRCm39) |
I2528F |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,082,839 (GRCm39) |
A1988T |
possibly damaging |
Het |
| Alox5 |
C |
T |
6: 116,390,508 (GRCm39) |
V490M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,417,408 (GRCm39) |
R1537* |
probably null |
Het |
| Bmf |
G |
A |
2: 118,379,639 (GRCm39) |
P46S |
probably benign |
Het |
| Brf1 |
T |
A |
12: 112,951,703 (GRCm39) |
H92L |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,245 (GRCm39) |
N35S |
probably benign |
Het |
| Cntnap3 |
C |
T |
13: 64,905,115 (GRCm39) |
G889S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,924,906 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,816,949 (GRCm39) |
|
probably null |
Het |
| Ddx27 |
T |
C |
2: 166,863,964 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,504 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,814,166 (GRCm39) |
V1461A |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,804,430 (GRCm39) |
R843W |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,742 (GRCm39) |
E13G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,909 (GRCm39) |
|
probably benign |
Het |
| Hpse2 |
T |
C |
19: 43,373,228 (GRCm39) |
S134G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,284,345 (GRCm39) |
T3206A |
probably benign |
Het |
| Ier5l |
T |
A |
2: 30,363,966 (GRCm39) |
S20C |
probably damaging |
Het |
| Il1r1 |
A |
G |
1: 40,341,560 (GRCm39) |
E324G |
probably benign |
Het |
| Kdm4b |
C |
T |
17: 56,660,522 (GRCm39) |
|
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,529,156 (GRCm39) |
E298D |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,405 (GRCm39) |
M647K |
probably damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,584 (GRCm39) |
A128V |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,274 (GRCm39) |
T138S |
probably benign |
Het |
| Or5j1 |
G |
T |
2: 86,878,632 (GRCm39) |
|
probably benign |
Het |
| Parvb |
A |
T |
15: 84,187,666 (GRCm39) |
K258M |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,566,372 (GRCm39) |
A1024S |
possibly damaging |
Het |
| Pde4a |
T |
C |
9: 21,122,646 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,903,692 (GRCm39) |
H571L |
possibly damaging |
Het |
| Pilra |
T |
A |
5: 137,833,803 (GRCm39) |
I85F |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,480,622 (GRCm39) |
V125M |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,705 (GRCm39) |
N708S |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,230,449 (GRCm39) |
T1165M |
probably benign |
Het |
| Rnase4 |
A |
T |
14: 51,342,378 (GRCm39) |
Y34F |
probably damaging |
Het |
| Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
| Rpl9-ps6 |
T |
A |
19: 32,443,699 (GRCm39) |
T85S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,246,124 (GRCm39) |
P738S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,550,217 (GRCm39) |
|
probably benign |
Het |
| Sel1l |
C |
T |
12: 91,784,064 (GRCm39) |
V459I |
probably damaging |
Het |
| Senp7 |
A |
T |
16: 55,996,186 (GRCm39) |
D755V |
possibly damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,381,985 (GRCm39) |
K151N |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,576 (GRCm39) |
F81S |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,083,502 (GRCm39) |
L162Q |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,216 (GRCm39) |
I264T |
possibly damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,018 (GRCm39) |
V379D |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,707,512 (GRCm39) |
L1762Q |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,630,501 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
T |
C |
8: 125,403,083 (GRCm39) |
D552G |
probably damaging |
Het |
| Tuba3a |
G |
T |
6: 125,255,529 (GRCm39) |
T382K |
possibly damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,977 (GRCm39) |
V103E |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,307 (GRCm39) |
H139R |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,940,670 (GRCm39) |
F141Y |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,673,333 (GRCm39) |
Y143* |
probably null |
Het |
| Zfp207 |
T |
A |
11: 80,276,796 (GRCm39) |
C26S |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation