Incidental Mutation 'R5707:Phf20'
| ID |
452007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20
|
| Ensembl Gene |
ENSMUSG00000038116 |
| Gene Name |
PHD finger protein 20 |
| Synonyms |
6820402O20Rik |
| MMRRC Submission |
043332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R5707 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
splice site (23 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 156138691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037401
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (56/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,620 (GRCm39) |
L4210P |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,496,622 (GRCm39) |
T518A |
probably damaging |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,386,635 (GRCm39) |
V187A |
possibly damaging |
Het |
| Arhgef15 |
A |
G |
11: 68,845,541 (GRCm39) |
S104P |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 75,003,399 (GRCm39) |
N4762K |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,509,463 (GRCm39) |
D264G |
probably damaging |
Het |
| Cela3b |
G |
T |
4: 137,152,167 (GRCm39) |
Q97K |
probably damaging |
Het |
| Cenpc1 |
T |
A |
5: 86,183,293 (GRCm39) |
R499W |
possibly damaging |
Het |
| Chct1 |
A |
G |
11: 85,064,138 (GRCm39) |
N93S |
probably benign |
Het |
| Cnr1 |
C |
A |
4: 33,944,330 (GRCm39) |
C239* |
probably null |
Het |
| Col6a2 |
T |
C |
10: 76,446,865 (GRCm39) |
K348E |
possibly damaging |
Het |
| Ctnnb1 |
C |
A |
9: 120,784,234 (GRCm39) |
L368I |
probably benign |
Het |
| Diras1 |
T |
C |
10: 80,857,915 (GRCm39) |
E112G |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,385,050 (GRCm39) |
M332K |
possibly damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,563 (GRCm39) |
*747W |
probably null |
Het |
| Dydc2 |
T |
G |
14: 40,783,911 (GRCm39) |
T71P |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,491,698 (GRCm39) |
Y686C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,072 (GRCm39) |
I429N |
probably benign |
Het |
| Gm5114 |
G |
C |
7: 39,060,700 (GRCm39) |
L50V |
probably benign |
Het |
| Gm5121 |
T |
G |
9: 57,241,766 (GRCm39) |
|
noncoding transcript |
Het |
| Kidins220 |
A |
G |
12: 25,063,390 (GRCm39) |
D933G |
probably damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,924,572 (GRCm39) |
K286R |
probably damaging |
Het |
| Klf5 |
T |
C |
14: 99,538,944 (GRCm39) |
I39T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,095,584 (GRCm39) |
V274I |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,054,025 (GRCm39) |
D364G |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,539,082 (GRCm39) |
E1190D |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,444,887 (GRCm39) |
A348T |
probably damaging |
Het |
| Or1af1 |
C |
A |
2: 37,109,901 (GRCm39) |
N133K |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,451 (GRCm39) |
D191E |
probably damaging |
Het |
| Or2b2b |
A |
G |
13: 21,858,769 (GRCm39) |
L115P |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,058,567 (GRCm39) |
A370E |
possibly damaging |
Het |
| Pdlim5 |
T |
A |
3: 142,010,060 (GRCm39) |
H294L |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,288,057 (GRCm39) |
D1114E |
probably benign |
Het |
| Plec |
C |
T |
15: 76,083,871 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
T |
C |
17: 36,178,128 (GRCm39) |
M1T |
probably null |
Het |
| Ppp4r3a |
G |
A |
12: 101,024,770 (GRCm39) |
T243I |
probably damaging |
Het |
| Prss41 |
C |
T |
17: 24,061,390 (GRCm39) |
V134I |
probably benign |
Het |
| Pter |
T |
C |
2: 12,982,991 (GRCm39) |
|
probably benign |
Het |
| Rasgef1b |
T |
G |
5: 99,382,461 (GRCm39) |
K176N |
possibly damaging |
Het |
| Reps1 |
T |
A |
10: 17,931,758 (GRCm39) |
D16E |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,238,397 (GRCm39) |
D73E |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,861 (GRCm39) |
T146S |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,093,174 (GRCm39) |
W396R |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,999 (GRCm39) |
E162G |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,588,874 (GRCm39) |
F106L |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,193,883 (GRCm39) |
Y340H |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,938,009 (GRCm39) |
I1556V |
possibly damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,288 (GRCm39) |
C113R |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,977 (GRCm39) |
F188L |
possibly damaging |
Het |
| Ucn3 |
A |
G |
13: 3,991,556 (GRCm39) |
V32A |
probably benign |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,183 (GRCm39) |
M597K |
possibly damaging |
Het |
| Wdr90 |
A |
G |
17: 26,076,166 (GRCm39) |
V491A |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,255,717 (GRCm39) |
M763K |
possibly damaging |
Het |
| Zfp507 |
G |
T |
7: 35,493,588 (GRCm39) |
A485E |
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 |
|
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 |
|
|
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'- AGGTCATTGTGTGGCTACAG -3'
(R):5'- GGTAAGCATCTTCAGACACATCC -3'
Sequencing Primer
(F):5'- CTGTGGCCCTGCTTCAG -3'
(R):5'- CCTTACTGCTACGTTCAGAAGGACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation