Incidental Mutation 'IGL02943:Phf20l1'
ID |
364619 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phf20l1
|
Ensembl Gene |
ENSMUSG00000072501 |
Gene Name |
PHD finger protein 20-like 1 |
Synonyms |
E130113K22Rik, CGI-72 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
IGL02943
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66466733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 54
(Y54C)
|
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: Y54C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035682 Gene: ENSMUSG00000072501 AA Change: Y54C
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: Y54C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229576
AA Change: Y54C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229590
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230882
AA Change: Y54C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230915
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230948
AA Change: Y54C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akp3 |
T |
A |
1: 87,054,091 (GRCm39) |
Y236* |
probably null |
Het |
Ankrd13c |
C |
T |
3: 157,653,564 (GRCm39) |
T134M |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,498,553 (GRCm39) |
S529P |
probably damaging |
Het |
Cdkl2 |
T |
A |
5: 92,185,103 (GRCm39) |
N96I |
possibly damaging |
Het |
Cep57 |
A |
T |
9: 13,730,149 (GRCm39) |
|
probably benign |
Het |
Chchd7 |
T |
C |
4: 3,942,796 (GRCm39) |
Y44H |
probably damaging |
Het |
Ciart |
T |
C |
3: 95,786,314 (GRCm39) |
I254V |
possibly damaging |
Het |
Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
Dlgap5 |
A |
G |
14: 47,650,433 (GRCm39) |
|
probably null |
Het |
Ednra |
T |
A |
8: 78,446,683 (GRCm39) |
I132F |
probably damaging |
Het |
En2 |
T |
C |
5: 28,371,524 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,846,613 (GRCm39) |
R1102G |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,822,701 (GRCm39) |
Q6145K |
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,889,780 (GRCm39) |
D460V |
probably damaging |
Het |
Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
Gpr84 |
T |
C |
15: 103,217,316 (GRCm39) |
I254V |
probably benign |
Het |
Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
Hyal6 |
T |
A |
6: 24,743,438 (GRCm39) |
V378E |
probably damaging |
Het |
Il20rb |
G |
T |
9: 100,348,305 (GRCm39) |
H210N |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,798,243 (GRCm39) |
|
probably benign |
Het |
Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
Jmjd1c |
T |
A |
10: 67,055,433 (GRCm39) |
D571E |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,495,821 (GRCm39) |
S623G |
probably damaging |
Het |
L3mbtl2 |
T |
A |
15: 81,570,456 (GRCm39) |
S645T |
possibly damaging |
Het |
Lrp2 |
A |
G |
2: 69,285,854 (GRCm39) |
V3779A |
possibly damaging |
Het |
Lrpprc |
T |
C |
17: 85,078,878 (GRCm39) |
R279G |
probably benign |
Het |
Lurap1l |
A |
G |
4: 80,871,872 (GRCm39) |
K122E |
probably damaging |
Het |
Met |
T |
C |
6: 17,535,928 (GRCm39) |
Y785H |
possibly damaging |
Het |
Myh3 |
T |
C |
11: 66,981,891 (GRCm39) |
F796L |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,450,595 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,294,723 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,068,974 (GRCm39) |
C292R |
probably damaging |
Het |
Nmnat1 |
A |
G |
4: 149,557,745 (GRCm39) |
L99P |
probably damaging |
Het |
Or1j12 |
A |
T |
2: 36,343,051 (GRCm39) |
L151F |
probably benign |
Het |
Or5p64 |
A |
G |
7: 107,854,623 (GRCm39) |
F241L |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
Postn |
T |
C |
3: 54,285,029 (GRCm39) |
|
probably null |
Het |
Ppp2r1b |
A |
G |
9: 50,794,885 (GRCm39) |
D570G |
probably damaging |
Het |
Prdm2 |
A |
C |
4: 142,858,542 (GRCm39) |
S1583A |
probably benign |
Het |
Proser1 |
T |
C |
3: 53,386,524 (GRCm39) |
V802A |
probably damaging |
Het |
Ptprc |
A |
T |
1: 138,027,251 (GRCm39) |
N532K |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,351,172 (GRCm39) |
H555R |
possibly damaging |
Het |
Ranbp6 |
T |
C |
19: 29,789,524 (GRCm39) |
D276G |
possibly damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,131,752 (GRCm39) |
V635A |
probably damaging |
Het |
Rbm5 |
T |
C |
9: 107,621,542 (GRCm39) |
Y620C |
probably damaging |
Het |
Sall1 |
C |
T |
8: 89,757,749 (GRCm39) |
R785H |
probably damaging |
Het |
Slc22a2 |
G |
T |
17: 12,828,948 (GRCm39) |
L351F |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,748,377 (GRCm39) |
Q782L |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tas2r107 |
T |
A |
6: 131,636,369 (GRCm39) |
M227L |
probably damaging |
Het |
Tecpr2 |
C |
T |
12: 110,934,183 (GRCm39) |
T1281I |
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,205,639 (GRCm39) |
V759E |
probably benign |
Het |
Trim2 |
T |
C |
3: 84,085,483 (GRCm39) |
T504A |
probably benign |
Het |
Trpc1 |
A |
G |
9: 95,590,906 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
T |
A |
14: 55,889,023 (GRCm39) |
V183E |
probably damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,686,364 (GRCm39) |
T18A |
probably benign |
Het |
Vmn1r225 |
T |
C |
17: 20,722,567 (GRCm39) |
S3P |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,666 (GRCm39) |
V554E |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,641,250 (GRCm39) |
I2291V |
probably damaging |
Het |
Vps39 |
A |
G |
2: 120,169,968 (GRCm39) |
S195P |
possibly damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,837 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-12-18 |