Incidental Mutation 'R0070:Phf20l1'
| ID |
64469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
038361-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R0070 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 66511840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 940
(W940G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230948]
|
| AlphaFold |
Q8CCJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048188
AA Change: W940G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: W940G
| 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 damaging
Transcript: ENSMUST00000229160
AA Change: W939G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230250
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230948
AA Change: W913G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231177
|
| Meta Mutation Damage Score |
0.2182 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
| Alpi |
A |
G |
1: 87,028,881 (GRCm39) |
|
probably benign |
Het |
| Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
| AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
| Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
| Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
| Cmip |
T |
A |
8: 118,153,293 (GRCm39) |
I270N |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
| Dnah9 |
A |
G |
11: 66,050,866 (GRCm39) |
V142A |
probably benign |
Het |
| Dnai4 |
A |
T |
4: 102,917,131 (GRCm39) |
I571K |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
| Gm10238 |
A |
G |
15: 75,109,434 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
T |
A |
12: 81,425,840 (GRCm39) |
D106V |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
| Ifna11 |
A |
G |
4: 88,738,512 (GRCm39) |
D106G |
possibly damaging |
Het |
| Igkv1-115 |
G |
A |
6: 68,138,402 (GRCm39) |
V2I |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,060 (GRCm39) |
|
probably benign |
Het |
| Kcnj6 |
C |
A |
16: 94,742,056 (GRCm39) |
K5N |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
| Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,966,074 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
T |
A |
11: 103,130,380 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,780 (GRCm39) |
L101P |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
| Orm3 |
A |
G |
4: 63,274,883 (GRCm39) |
T64A |
probably benign |
Het |
| Phldb1 |
C |
T |
9: 44,619,201 (GRCm39) |
R844H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,235,155 (GRCm39) |
D814G |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,556,618 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
| Rnf32 |
A |
G |
5: 29,430,125 (GRCm39) |
T315A |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,049,766 (GRCm39) |
Y12H |
probably benign |
Het |
| Serpinh1 |
A |
T |
7: 98,998,521 (GRCm39) |
S36R |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
| Sf3a3 |
G |
A |
4: 124,608,748 (GRCm39) |
V21I |
probably benign |
Het |
| Sin3b |
T |
A |
8: 73,452,210 (GRCm39) |
H105Q |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,150,749 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
| Sprr3 |
C |
T |
3: 92,364,609 (GRCm39) |
M78I |
probably benign |
Het |
| Ssmem1 |
A |
G |
6: 30,519,420 (GRCm39) |
E35G |
possibly damaging |
Het |
| Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
| Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
| Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
| Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
| Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,644,771 (GRCm39) |
|
probably null |
Het |
| Tusc3 |
G |
A |
8: 39,530,421 (GRCm39) |
G129R |
possibly damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,515 (GRCm39) |
Y422C |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,597 (GRCm39) |
T312S |
probably benign |
Het |
| Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
| Zfp947 |
T |
A |
17: 22,365,165 (GRCm39) |
T170S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGATTGGCTCTTGCCTACCTAAG -3'
(R):5'- GTTACCCTGTATTGAGCCTACAACACC -3'
Sequencing Primer
(F):5'- TCTTGCCTACCTAAGTAGGATAATAG -3'
(R):5'- CCTCAGCAGGCAGGTAGTATATC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation