Incidental Mutation 'IGL03030:Phf20l1'
| ID |
408419 |
| 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 # |
IGL03030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 66513796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[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 |
noncoding transcript
Transcript: ENSMUST00000229033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231177
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,145,057 (GRCm39) |
V367A |
possibly damaging |
Het |
| Abcb5 |
A |
T |
12: 118,904,104 (GRCm39) |
S200R |
possibly damaging |
Het |
| Adam29 |
T |
C |
8: 56,326,100 (GRCm39) |
D118G |
probably damaging |
Het |
| Adh4 |
A |
G |
3: 138,134,906 (GRCm39) |
D360G |
probably benign |
Het |
| Ankle2 |
A |
G |
5: 110,399,476 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,409,881 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,343,504 (GRCm39) |
I28F |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,015 (GRCm39) |
T1608I |
possibly damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,364,894 (GRCm39) |
D123G |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,212,123 (GRCm39) |
T51M |
probably benign |
Het |
| Ccdc63 |
A |
G |
5: 122,260,876 (GRCm39) |
V216A |
probably benign |
Het |
| Ccnd2 |
A |
G |
6: 127,125,841 (GRCm39) |
V65A |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,511,113 (GRCm38) |
S434P |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,245,230 (GRCm39) |
T1163S |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,823 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,241 (GRCm39) |
N813K |
possibly damaging |
Het |
| Cog5 |
G |
A |
12: 31,840,921 (GRCm39) |
V249M |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,182,080 (GRCm39) |
N98S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,005,463 (GRCm39) |
D608G |
unknown |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,648 (GRCm39) |
I1454N |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,237 (GRCm39) |
V603A |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,569,332 (GRCm39) |
|
probably benign |
Het |
| Ficd |
G |
A |
5: 113,874,990 (GRCm39) |
V20I |
probably benign |
Het |
| Gatad2b |
G |
T |
3: 90,249,244 (GRCm39) |
G94V |
probably benign |
Het |
| Gm4845 |
G |
A |
1: 141,184,403 (GRCm39) |
|
noncoding transcript |
Het |
| Hrnr |
G |
A |
3: 93,227,908 (GRCm39) |
V9I |
possibly damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,040 (GRCm39) |
S584P |
probably damaging |
Het |
| Klk1b24 |
C |
A |
7: 43,840,790 (GRCm39) |
Q73K |
probably benign |
Het |
| Lrp10 |
C |
A |
14: 54,706,619 (GRCm39) |
N518K |
possibly damaging |
Het |
| Lsr |
A |
G |
7: 30,658,706 (GRCm39) |
V247A |
possibly damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,862 (GRCm39) |
M1K |
probably null |
Het |
| Mprip |
T |
A |
11: 59,631,941 (GRCm39) |
|
probably null |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Oprd1 |
A |
G |
4: 131,844,696 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,883 (GRCm39) |
V210A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,162 (GRCm39) |
Y276N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,006 (GRCm39) |
I159N |
possibly damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,416 (GRCm39) |
T240A |
probably damaging |
Het |
| Or5b109 |
C |
T |
19: 13,212,418 (GRCm39) |
S268L |
probably damaging |
Het |
| Palb2 |
A |
G |
7: 121,712,479 (GRCm39) |
V591A |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,786 (GRCm39) |
D372V |
probably damaging |
Het |
| Phc3 |
A |
G |
3: 30,991,002 (GRCm39) |
V405A |
probably damaging |
Het |
| Pik3ip1 |
A |
G |
11: 3,283,259 (GRCm39) |
K57E |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,455,372 (GRCm39) |
M4044I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,460,298 (GRCm39) |
V4169A |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,963 (GRCm39) |
I313F |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,179,160 (GRCm39) |
T952S |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,962,730 (GRCm39) |
I178N |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rapgef2 |
C |
A |
3: 78,981,614 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,269,311 (GRCm39) |
D538G |
probably damaging |
Het |
| Rnf44 |
G |
A |
13: 54,829,803 (GRCm39) |
R312* |
probably null |
Het |
| Rock1 |
T |
C |
18: 10,070,215 (GRCm39) |
|
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,275,875 (GRCm39) |
E474G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,699,365 (GRCm39) |
I2959F |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,803 (GRCm39) |
S801P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,153 (GRCm39) |
I602V |
probably benign |
Het |
| Slc6a19 |
C |
A |
13: 73,848,590 (GRCm39) |
V55L |
probably damaging |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,966,964 (GRCm39) |
V440F |
probably damaging |
Het |
| Vmn1r236 |
G |
A |
17: 21,507,108 (GRCm39) |
W75* |
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,892,799 (GRCm39) |
F780S |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,217,149 (GRCm39) |
A494S |
possibly damaging |
Het |
| Vwa3b |
A |
T |
1: 37,084,049 (GRCm39) |
K74M |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,738,989 (GRCm39) |
I1037F |
possibly damaging |
Het |
| Zfp13 |
T |
C |
17: 23,799,819 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,890 (GRCm39) |
E64G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation