Incidental Mutation 'R8015:Phf20l1'
| ID |
617146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
067455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R8015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 66511797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 925
(N925K)
|
| 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: N925K
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: N925K
| 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 |
possibly damaging
Transcript: ENSMUST00000229160
AA Change: N924K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
AA Change: N898K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.0645 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alad |
A |
G |
4: 62,430,159 (GRCm39) |
V121A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,174,688 (GRCm39) |
Y684N |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,453,245 (GRCm39) |
R808L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,735,983 (GRCm39) |
V317A |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,088 (GRCm39) |
S220P |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,354,655 (GRCm39) |
L241P |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Defb13 |
G |
T |
8: 22,436,828 (GRCm39) |
V8F |
possibly damaging |
Het |
| Dpp6 |
C |
T |
5: 27,022,808 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,065 (GRCm39) |
D3239G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,474,062 (GRCm39) |
R4793S |
possibly damaging |
Het |
| Hspa1a |
T |
A |
17: 35,189,625 (GRCm39) |
Q426L |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Il20rb |
T |
A |
9: 100,356,947 (GRCm39) |
Y61F |
probably damaging |
Het |
| Iqcn |
C |
T |
8: 71,169,441 (GRCm39) |
S1177L |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,448,882 (GRCm39) |
V496D |
possibly damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,317,109 (GRCm39) |
S102P |
unknown |
Het |
| Jmjd8 |
T |
A |
17: 26,048,302 (GRCm39) |
F108I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,626,097 (GRCm39) |
T55A |
possibly damaging |
Het |
| Lce3d |
A |
T |
3: 92,865,810 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,766,761 (GRCm39) |
V702F |
probably damaging |
Het |
| Lox |
G |
A |
18: 52,661,420 (GRCm39) |
A218V |
probably benign |
Het |
| Mcrs1 |
T |
A |
15: 99,146,735 (GRCm39) |
K99* |
probably null |
Het |
| Mfsd8 |
G |
A |
3: 40,801,270 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
G |
T |
3: 88,818,863 (GRCm39) |
P264Q |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,303 (GRCm39) |
D308G |
probably benign |
Het |
| Or5g25 |
G |
T |
2: 85,478,136 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,814 (GRCm39) |
H36L |
probably damaging |
Het |
| Pate9 |
A |
G |
9: 36,446,250 (GRCm39) |
V54A |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,754,714 (GRCm39) |
V253F |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,484,353 (GRCm39) |
D745G |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,407 (GRCm39) |
W158R |
possibly damaging |
Het |
| Rcn3 |
T |
A |
7: 44,734,331 (GRCm39) |
I226F |
probably damaging |
Het |
| Rhbdl1 |
C |
G |
17: 26,054,825 (GRCm39) |
V157L |
probably damaging |
Het |
| Slc30a2 |
A |
G |
4: 134,074,761 (GRCm39) |
T173A |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,808 (GRCm39) |
T110A |
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,076,902 (GRCm39) |
K53E |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,065 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,067,737 (GRCm39) |
C2055S |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,400,426 (GRCm39) |
R406Q |
probably benign |
Het |
| Tmem150b |
C |
T |
7: 4,719,327 (GRCm39) |
G198S |
probably null |
Het |
| Tnfrsf14 |
T |
G |
4: 155,011,118 (GRCm39) |
Q81P |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,568 (GRCm39) |
K40R |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,934,504 (GRCm39) |
V560E |
probably damaging |
Het |
| Vmn1r14 |
A |
G |
6: 57,211,015 (GRCm39) |
M198V |
probably damaging |
Het |
| Vmn2r23 |
G |
A |
6: 123,681,500 (GRCm39) |
S136N |
probably benign |
Het |
| Vmn2r31 |
C |
T |
7: 7,387,199 (GRCm39) |
V791I |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,829,704 (GRCm39) |
Y984C |
|
Het |
| Zfp386 |
T |
G |
12: 116,023,027 (GRCm39) |
D248E |
probably damaging |
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 |
|
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 |
|
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'- ACTTTCTCAGAGTCAGATTGGC -3'
(R):5'- CAGCAGGCAGGTAGTATATCTGTAG -3'
Sequencing Primer
(F):5'- TGGCTCTTGCCTACCTAA -3'
(R):5'- TGCATTCTACAACTTAAAGAGCTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation