Incidental Mutation 'R5382:Phf20'
| ID |
424772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20
|
| Ensembl Gene |
ENSMUSG00000038116 |
| Gene Name |
PHD finger protein 20 |
| Synonyms |
6820402O20Rik |
| MMRRC Submission |
042957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R5382 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 156109417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 255
(E255K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037401
AA Change: E255K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: E255K
| 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: ENSMUST00000131479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
| Meta Mutation Damage Score |
0.0778 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| Acp7 |
G |
A |
7: 28,314,844 (GRCm39) |
P250S |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,323,837 (GRCm39) |
M133L |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
| Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
| Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
| Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
| Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,587,127 (GRCm39) |
|
probably null |
Het |
| Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
| Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,527,847 (GRCm39) |
G768D |
probably damaging |
Het |
| Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
| Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
| Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
| Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
| Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
| Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
| Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
| Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
| Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
| Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
| Resf1 |
G |
T |
6: 149,227,958 (GRCm39) |
E335* |
probably null |
Het |
| Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,115,025 (GRCm39) |
I25T |
probably benign |
Het |
| Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
| Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
| Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
possibly 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 |
|
R5089:Phf20
|
UTSW |
2 |
156,144,782 (GRCm39) |
missense |
probably benign |
|
|
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'- AGAGGGAAAGCTGATCTGCTC -3'
(R):5'- ATGTTTCCACCCCAGCTCAG -3'
Sequencing Primer
(F):5'- TCTGCTCAGAAAAAGGCAAAGTGTC -3'
(R):5'- CCACAAGCACCGTTTGTTTTCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation