Incidental Mutation 'IGL00484:Phf20l1'
ID |
4090 |
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 # |
IGL00484
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 66487482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230882]
[ENSMUST00000230948]
|
AlphaFold |
Q8CCJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048188
|
SMART Domains |
Protein: ENSMUSP00000035682 Gene: ENSMUSG00000072501
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 benign
Transcript: ENSMUST00000229160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229486
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
A |
G |
7: 139,455,860 (GRCm39) |
Q496R |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,416,220 (GRCm39) |
S1151T |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,504,328 (GRCm39) |
K330R |
probably benign |
Het |
Anln |
A |
T |
9: 22,272,120 (GRCm39) |
Y666* |
probably null |
Het |
Atp1a2 |
A |
G |
1: 172,103,569 (GRCm39) |
W984R |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,361,998 (GRCm39) |
|
probably benign |
Het |
Casc3 |
A |
G |
11: 98,714,028 (GRCm39) |
E420G |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,833,249 (GRCm39) |
D1724N |
probably benign |
Het |
Dhx15 |
T |
G |
5: 52,324,154 (GRCm39) |
E379D |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,748,260 (GRCm39) |
|
probably benign |
Het |
Exph5 |
C |
T |
9: 53,288,006 (GRCm39) |
Q1696* |
probably null |
Het |
Fkbp6 |
C |
A |
5: 135,368,802 (GRCm39) |
A213S |
possibly damaging |
Het |
Fndc4 |
A |
G |
5: 31,450,840 (GRCm39) |
|
probably benign |
Het |
Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
Glmp |
T |
A |
3: 88,233,169 (GRCm39) |
|
probably null |
Het |
H2ac22 |
G |
T |
13: 21,971,091 (GRCm39) |
R100S |
probably benign |
Het |
Hapstr1 |
T |
C |
16: 8,649,175 (GRCm39) |
|
probably benign |
Het |
Ighv1-19 |
G |
A |
12: 114,672,329 (GRCm39) |
T97I |
probably benign |
Het |
Kdm6b |
T |
C |
11: 69,297,132 (GRCm39) |
S407G |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,000,873 (GRCm39) |
Y2231C |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,884,188 (GRCm39) |
S2999T |
probably benign |
Het |
Lztr1 |
T |
C |
16: 17,335,314 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,867 (GRCm39) |
V972A |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,128 (GRCm39) |
S1725R |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,638,272 (GRCm39) |
V396A |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,191,737 (GRCm39) |
Q1074R |
probably damaging |
Het |
Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
Peli1 |
T |
A |
11: 21,096,952 (GRCm39) |
V114E |
probably damaging |
Het |
Pik3r1 |
A |
C |
13: 101,838,255 (GRCm39) |
I267S |
probably benign |
Het |
Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
G |
16: 4,905,816 (GRCm39) |
I1493T |
probably benign |
Het |
Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
Pramel28 |
G |
A |
4: 143,693,184 (GRCm39) |
|
probably benign |
Het |
Prg3 |
A |
G |
2: 84,819,091 (GRCm39) |
I6V |
probably benign |
Het |
Ptprg |
T |
C |
14: 12,215,220 (GRCm38) |
V1069A |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 157,001,745 (GRCm39) |
|
probably null |
Het |
Slc36a2 |
A |
T |
11: 55,053,614 (GRCm39) |
Y341* |
probably null |
Het |
Snapc3 |
A |
G |
4: 83,354,633 (GRCm39) |
I215V |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,492 (GRCm39) |
S1475T |
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,024,141 (GRCm39) |
D414E |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,623,520 (GRCm39) |
T468A |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,213,105 (GRCm39) |
T310A |
probably benign |
Het |
Tgfbr2 |
T |
A |
9: 115,987,357 (GRCm39) |
I51F |
probably benign |
Het |
Trip11 |
A |
T |
12: 101,851,570 (GRCm39) |
C546* |
probably null |
Het |
Ttbk2 |
C |
T |
2: 120,604,367 (GRCm39) |
W210* |
probably null |
Het |
Upk1b |
T |
G |
16: 38,600,378 (GRCm39) |
N201H |
possibly damaging |
Het |
Uqcc5 |
T |
A |
14: 30,810,879 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
T |
1: 188,514,710 (GRCm39) |
T3180S |
probably benign |
Het |
Vps13d |
T |
G |
4: 144,853,145 (GRCm39) |
Q2323P |
probably benign |
Het |
Zfp810 |
A |
T |
9: 22,189,605 (GRCm39) |
Y434* |
probably null |
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 |
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 |
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 |
2012-04-20 |