Incidental Mutation 'R0562:Phf20l1'
| ID |
45979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
038753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R0562 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66481453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 283
(E283G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230882]
[ENSMUST00000230948]
|
| AlphaFold |
Q8CCJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048188
AA Change: E310G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: E310G
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
11 |
71 |
7.67e0 |
SMART |
|
Agenet
|
11 |
73 |
3.53e0 |
SMART |
|
Agenet
|
85 |
141 |
4.54e-1 |
SMART |
|
TUDOR
|
85 |
141 |
5.75e-8 |
SMART |
|
Pfam:DUF3776
|
210 |
319 |
1.3e-31 |
PFAM |
|
Pfam:PHD20L1_u1
|
318 |
413 |
4.7e-47 |
PFAM |
|
low complexity region
|
443 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
658 |
N/A |
INTRINSIC |
|
PHD
|
683 |
727 |
8.45e-3 |
SMART |
|
low complexity region
|
879 |
887 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229160
AA Change: E309G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229486
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229576
AA Change: E310G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230584
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230882
AA Change: E309G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230948
AA Change: E283G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230915
|
| Meta Mutation Damage Score |
0.1218 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
C |
T |
7: 131,027,518 (GRCm39) |
Q63* |
probably null |
Het |
| Adam26b |
A |
T |
8: 43,973,408 (GRCm39) |
N531K |
probably benign |
Het |
| Agt |
A |
G |
8: 125,286,014 (GRCm39) |
I356T |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,827,413 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
C |
T |
5: 96,960,743 (GRCm39) |
S49L |
possibly damaging |
Het |
| Arap3 |
C |
A |
18: 38,108,593 (GRCm39) |
R1279L |
probably damaging |
Het |
| Azin1 |
A |
G |
15: 38,493,825 (GRCm39) |
I266T |
probably benign |
Het |
| Btnl7-ps |
T |
C |
17: 34,752,498 (GRCm39) |
|
noncoding transcript |
Het |
| Car5a |
T |
A |
8: 122,671,469 (GRCm39) |
T22S |
probably benign |
Het |
| Card6 |
A |
G |
15: 5,134,648 (GRCm39) |
I185T |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,552,437 (GRCm39) |
D11G |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,705,623 (GRCm39) |
V1127A |
probably benign |
Het |
| Ces1h |
T |
C |
8: 94,083,771 (GRCm39) |
I390M |
unknown |
Het |
| Col9a1 |
T |
A |
1: 24,218,360 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Cyb561a3 |
T |
C |
19: 10,564,074 (GRCm39) |
V138A |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,721,321 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,963,726 (GRCm39) |
Y2516H |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,174,594 (GRCm39) |
N521Y |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,267,062 (GRCm39) |
E4835K |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,120,080 (GRCm39) |
E810G |
probably damaging |
Het |
| Dusp15 |
T |
C |
2: 152,793,268 (GRCm39) |
N3S |
possibly damaging |
Het |
| Eif1ad9 |
A |
G |
12: 88,296,436 (GRCm39) |
D138G |
unknown |
Het |
| Epha4 |
T |
C |
1: 77,365,124 (GRCm39) |
K625R |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,862,115 (GRCm39) |
V2394I |
probably benign |
Het |
| Gata5 |
C |
T |
2: 179,969,552 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,252,227 (GRCm39) |
N159S |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,953,751 (GRCm39) |
M689K |
probably benign |
Het |
| Ift56 |
T |
A |
6: 38,378,064 (GRCm39) |
V292E |
probably damaging |
Het |
| Ilvbl |
G |
T |
10: 78,419,321 (GRCm39) |
G499C |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,494,780 (GRCm39) |
I65T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,835 (GRCm39) |
V208A |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,641,070 (GRCm39) |
M460V |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,610,488 (GRCm39) |
N580D |
probably benign |
Het |
| Klk15 |
T |
A |
7: 43,588,269 (GRCm39) |
C192* |
probably null |
Het |
| Klk1b9 |
A |
G |
7: 43,445,090 (GRCm39) |
E194G |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,122,954 (GRCm39) |
G2779V |
probably damaging |
Het |
| Lmln |
C |
T |
16: 32,937,455 (GRCm39) |
R607* |
probably null |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Matk |
A |
T |
10: 81,095,525 (GRCm39) |
Y115F |
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,062 (GRCm39) |
K128E |
probably benign |
Het |
| Mrps22 |
T |
C |
9: 98,474,746 (GRCm39) |
H246R |
probably benign |
Het |
| Msln |
A |
T |
17: 25,971,980 (GRCm39) |
M79K |
probably benign |
Het |
| Myf6 |
G |
A |
10: 107,330,420 (GRCm39) |
P49L |
probably benign |
Het |
| Nat1 |
C |
T |
8: 67,943,963 (GRCm39) |
T113I |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,162,093 (GRCm39) |
V394M |
unknown |
Het |
| Oas1c |
T |
C |
5: 120,943,669 (GRCm39) |
|
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,144,869 (GRCm39) |
T254S |
probably benign |
Het |
| Otp |
A |
T |
13: 95,013,917 (GRCm39) |
T112S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,405 (GRCm39) |
N320S |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,592,364 (GRCm39) |
F93L |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,029,421 (GRCm39) |
F342S |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,846,196 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,664,291 (GRCm39) |
|
probably null |
Het |
| Reg3g |
A |
T |
6: 78,444,471 (GRCm39) |
H107Q |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,415,696 (GRCm39) |
K408E |
probably damaging |
Het |
| Samd4 |
T |
C |
14: 47,314,966 (GRCm39) |
C309R |
probably damaging |
Het |
| Sestd1 |
C |
A |
2: 77,061,066 (GRCm39) |
W104L |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,330 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
A |
11: 53,870,446 (GRCm39) |
K80* |
probably null |
Het |
| Snx20 |
T |
A |
8: 89,356,630 (GRCm39) |
Q62L |
probably benign |
Het |
| Spef1l |
T |
C |
7: 139,557,026 (GRCm39) |
M120V |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,032,594 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,885,584 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
C |
T |
5: 31,127,654 (GRCm39) |
P152L |
probably damaging |
Het |
| Tex29 |
T |
C |
8: 11,894,138 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
A |
G |
10: 81,116,389 (GRCm39) |
V235A |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,443,262 (GRCm39) |
I367N |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,543,255 (GRCm39) |
M33244L |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,089,044 (GRCm39) |
N333I |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,382,406 (GRCm39) |
|
probably benign |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,848 (GRCm39) |
S160R |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,797,449 (GRCm39) |
W788* |
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,363,022 (GRCm39) |
|
probably benign |
Het |
| Zbtb7a |
A |
G |
10: 80,984,163 (GRCm39) |
E535G |
probably benign |
Het |
| Zfp1004 |
T |
A |
2: 150,034,494 (GRCm39) |
C303S |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,964,295 (GRCm39) |
D144G |
probably benign |
Het |
|
| Other mutations in Phf20l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Phf20l1
|
APN |
15 |
66,500,884 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL00484:Phf20l1
|
APN |
15 |
66,487,482 (GRCm39) |
splice site |
probably benign |
|
|
IGL00668:Phf20l1
|
APN |
15 |
66,504,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00849:Phf20l1
|
APN |
15 |
66,508,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00954:Phf20l1
|
APN |
15 |
66,513,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Phf20l1
|
APN |
15 |
66,484,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01504:Phf20l1
|
APN |
15 |
66,469,540 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02087:Phf20l1
|
APN |
15 |
66,500,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02273:Phf20l1
|
APN |
15 |
66,511,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Phf20l1
|
APN |
15 |
66,487,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02372:Phf20l1
|
APN |
15 |
66,513,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Phf20l1
|
APN |
15 |
66,487,481 (GRCm39) |
splice site |
probably benign |
|
|
IGL02656:Phf20l1
|
APN |
15 |
66,501,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Phf20l1
|
APN |
15 |
66,476,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Phf20l1
|
APN |
15 |
66,466,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02940:Phf20l1
|
APN |
15 |
66,467,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Phf20l1
|
APN |
15 |
66,466,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Phf20l1
|
APN |
15 |
66,513,796 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03034:Phf20l1
|
APN |
15 |
66,469,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Abbreviated
|
UTSW |
15 |
66,504,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
acadia
|
UTSW |
15 |
66,508,669 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
curt
|
UTSW |
15 |
66,511,797 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Cut
|
UTSW |
15 |
66,484,888 (GRCm39) |
nonsense |
probably null |
|
|
shorthand
|
UTSW |
15 |
66,481,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
slang
|
UTSW |
15 |
66,513,781 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4305001:Phf20l1
|
UTSW |
15 |
66,484,901 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0070:Phf20l1
|
UTSW |
15 |
66,511,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Phf20l1
|
UTSW |
15 |
66,511,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Phf20l1
|
UTSW |
15 |
66,466,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Phf20l1
|
UTSW |
15 |
66,487,479 (GRCm39) |
splice site |
probably benign |
|
|
R1458:Phf20l1
|
UTSW |
15 |
66,476,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Phf20l1
|
UTSW |
15 |
66,487,108 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1781:Phf20l1
|
UTSW |
15 |
66,504,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Phf20l1
|
UTSW |
15 |
66,466,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Phf20l1
|
UTSW |
15 |
66,513,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4374:Phf20l1
|
UTSW |
15 |
66,476,686 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4375:Phf20l1
|
UTSW |
15 |
66,487,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4554:Phf20l1
|
UTSW |
15 |
66,469,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Phf20l1
|
UTSW |
15 |
66,476,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5092:Phf20l1
|
UTSW |
15 |
66,508,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5491:Phf20l1
|
UTSW |
15 |
66,487,634 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5713:Phf20l1
|
UTSW |
15 |
66,508,669 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6126:Phf20l1
|
UTSW |
15 |
66,508,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6213:Phf20l1
|
UTSW |
15 |
66,504,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6569:Phf20l1
|
UTSW |
15 |
66,501,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Phf20l1
|
UTSW |
15 |
66,481,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Phf20l1
|
UTSW |
15 |
66,502,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7100:Phf20l1
|
UTSW |
15 |
66,476,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7208:Phf20l1
|
UTSW |
15 |
66,476,638 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7436:Phf20l1
|
UTSW |
15 |
66,469,599 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7466:Phf20l1
|
UTSW |
15 |
66,508,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Phf20l1
|
UTSW |
15 |
66,475,933 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7863:Phf20l1
|
UTSW |
15 |
66,487,084 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7991:Phf20l1
|
UTSW |
15 |
66,502,768 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8015:Phf20l1
|
UTSW |
15 |
66,511,797 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8161:Phf20l1
|
UTSW |
15 |
66,475,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8228:Phf20l1
|
UTSW |
15 |
66,511,789 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8857:Phf20l1
|
UTSW |
15 |
66,513,781 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9295:Phf20l1
|
UTSW |
15 |
66,513,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Phf20l1
|
UTSW |
15 |
66,475,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Phf20l1
|
UTSW |
15 |
66,484,888 (GRCm39) |
nonsense |
probably null |
|
|
R9522:Phf20l1
|
UTSW |
15 |
66,504,669 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9727:Phf20l1
|
UTSW |
15 |
66,487,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Phf20l1
|
UTSW |
15 |
66,501,655 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Phf20l1
|
UTSW |
15 |
66,469,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGATGTTCTAAAGACCCACAC -3'
(R):5'- ATACCCTGGGATGCCTGTCTCC -3'
Sequencing Primer
(F):5'- AGTGTGGCAGAATGATATGCTACTC -3'
(R):5'- CCTTCTAATTGTGGAGACAATGGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation