Incidental Mutation 'R7528:Phf20'
| ID |
583113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20
|
| Ensembl Gene |
ENSMUSG00000038116 |
| Gene Name |
PHD finger protein 20 |
| Synonyms |
6820402O20Rik |
| MMRRC Submission |
045600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R7528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 156144928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 845
(Y845*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037401
AA Change: Y845*
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: Y845*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,767,317 (GRCm39) |
E920G |
probably damaging |
Het |
| Acss2 |
A |
C |
2: 155,399,066 (GRCm39) |
N443H |
probably damaging |
Het |
| Adam3 |
C |
A |
8: 25,167,279 (GRCm39) |
A71S |
unknown |
Het |
| Agpat3 |
A |
G |
10: 78,123,746 (GRCm39) |
L38P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Amtn |
C |
A |
5: 88,526,711 (GRCm39) |
|
probably null |
Het |
| App |
T |
G |
16: 84,775,146 (GRCm39) |
Y497S |
possibly damaging |
Het |
| Bphl |
T |
A |
13: 34,244,473 (GRCm39) |
Y197N |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,491,525 (GRCm39) |
M160K |
possibly damaging |
Het |
| Ccdc181 |
A |
C |
1: 164,107,527 (GRCm39) |
N70T |
probably benign |
Het |
| Cd55b |
T |
C |
1: 130,347,473 (GRCm39) |
N113D |
possibly damaging |
Het |
| Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,391,622 (GRCm39) |
H691R |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,056,164 (GRCm39) |
V1579A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,333,603 (GRCm39) |
F5030I |
probably damaging |
Het |
| Eppk1 |
G |
A |
15: 76,004,308 (GRCm39) |
|
probably benign |
Het |
| Fbxw4 |
T |
C |
19: 45,648,449 (GRCm39) |
E7G |
unknown |
Het |
| Fos |
T |
A |
12: 85,522,432 (GRCm39) |
C154S |
probably damaging |
Het |
| Foxh1 |
A |
G |
15: 76,553,511 (GRCm39) |
V97A |
probably benign |
Het |
| Gmeb1 |
G |
A |
4: 131,959,361 (GRCm39) |
T231I |
possibly damaging |
Het |
| Golga3 |
T |
A |
5: 110,360,098 (GRCm39) |
V1112E |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,017 (GRCm39) |
D430G |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 42,801,463 (GRCm39) |
D441G |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,107,204 (GRCm39) |
W460* |
probably null |
Het |
| Ifi204 |
T |
C |
1: 173,579,406 (GRCm39) |
I480V |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,080,743 (GRCm39) |
V849A |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,737,866 (GRCm39) |
D12G |
probably benign |
Het |
| Klhdc7a |
A |
T |
4: 139,694,828 (GRCm39) |
Y40N |
probably damaging |
Het |
| Krtap5-3 |
T |
C |
7: 141,755,219 (GRCm39) |
C19R |
unknown |
Het |
| Macf1 |
G |
A |
4: 123,325,852 (GRCm39) |
A5217V |
possibly damaging |
Het |
| Mlc1 |
A |
T |
15: 88,858,710 (GRCm39) |
I146N |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,270,925 (GRCm39) |
R129* |
probably null |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Or4k1 |
A |
G |
14: 50,377,277 (GRCm39) |
V273A |
possibly damaging |
Het |
| Or56a3b |
T |
C |
7: 104,771,071 (GRCm39) |
Y136H |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,329,646 (GRCm39) |
R1214H |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,474 (GRCm39) |
I431T |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,494,464 (GRCm39) |
S1894G |
probably damaging |
Het |
| Ppp1r7 |
C |
T |
1: 93,282,123 (GRCm39) |
Q225* |
probably null |
Het |
| Ppp4r1 |
C |
A |
17: 66,120,493 (GRCm39) |
T209K |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,950,183 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
G |
1: 11,274,316 (GRCm39) |
D1329E |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
| Rab24 |
A |
T |
13: 55,468,921 (GRCm39) |
C87S |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,954 (GRCm39) |
Y558F |
probably benign |
Het |
| Serpinb6e |
T |
C |
13: 34,016,474 (GRCm39) |
I420V |
possibly damaging |
Het |
| Slain2 |
C |
A |
5: 73,072,143 (GRCm39) |
S59* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,731 (GRCm39) |
D576G |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,141,960 (GRCm39) |
M11T |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,731,460 (GRCm39) |
D238G |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,395,427 (GRCm38) |
Y337* |
probably null |
Het |
| Trav15-2-dv6-2 |
A |
C |
14: 53,887,308 (GRCm39) |
Y76S |
probably benign |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,189 (GRCm39) |
G25C |
probably damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,818,492 (GRCm39) |
E3125G |
|
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,061 (GRCm39) |
T1245A |
probably benign |
Het |
| Zfp960 |
C |
T |
17: 17,307,825 (GRCm39) |
H180Y |
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 |
|
|
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 |
|
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'- CATCCTGATCTGCAGCTATGG -3'
(R):5'- AGGCAAACACCTACCTTTGGG -3'
Sequencing Primer
(F):5'- AGCTATGGTGCCAGCCCTG -3'
(R):5'- CTACCTTTGGGGAGCTGGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation