Incidental Mutation 'R5713:Phf20l1'
| ID |
451014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66508669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 843
(N843D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230948]
|
| AlphaFold |
Q8CCJ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048188
AA Change: N843D
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: N843D
| 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 |
noncoding transcript
Transcript: ENSMUST00000229033
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229160
AA Change: N842D
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230250
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230948
AA Change: N816D
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231177
|
| Meta Mutation Damage Score |
0.0603 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
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 |
|
R0562:Phf20l1
|
UTSW |
15 |
66,481,453 (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 |
|
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'- GACAACTTCGTCTTTGATCCTGAC -3'
(R):5'- TTATCTGGCACACGGAGCTC -3'
Sequencing Primer
(F):5'- ACCACAATTTTTAGCGTGTTGC -3'
(R):5'- GGAGCTCCCCATCTTCTTCAAAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation