Incidental Mutation 'R3973:Phf20l1'
ID |
312960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf20l1
|
Ensembl Gene |
ENSMUSG00000072501 |
Gene Name |
PHD finger protein 20-like 1 |
Synonyms |
E130113K22Rik, CGI-72 |
MMRRC Submission |
040841-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R3973 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66513665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 947
(D947G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230948]
|
AlphaFold |
Q8CCJ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048188
AA Change: D974G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035682 Gene: ENSMUSG00000072501 AA Change: D974G
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: D973G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230948
AA Change: D947G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231177
|
Meta Mutation Damage Score |
0.2821 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,029,488 (GRCm39) |
I486T |
probably damaging |
Het |
4933427D14Rik |
T |
C |
11: 72,089,567 (GRCm39) |
R106G |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
Ddx3y |
G |
A |
Y: 1,267,170 (GRCm39) |
A232V |
probably damaging |
Het |
Dst |
T |
G |
1: 34,050,979 (GRCm39) |
V25G |
probably benign |
Het |
Ehbp1 |
C |
T |
11: 22,087,867 (GRCm39) |
A406T |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
Eps8 |
A |
T |
6: 137,486,153 (GRCm39) |
M453K |
probably benign |
Het |
Galnt3 |
T |
C |
2: 65,937,374 (GRCm39) |
D112G |
possibly damaging |
Het |
Glra4 |
C |
T |
X: 135,663,542 (GRCm39) |
A336T |
probably damaging |
Het |
Gmppb |
A |
G |
9: 107,927,338 (GRCm39) |
D95G |
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,504,544 (GRCm39) |
Y100C |
possibly damaging |
Het |
Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
Hsd17b3 |
A |
T |
13: 64,207,300 (GRCm39) |
V247D |
probably damaging |
Het |
Htr7 |
T |
C |
19: 36,034,160 (GRCm39) |
D165G |
probably damaging |
Het |
Igha |
T |
C |
12: 113,219,972 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,239,345 (GRCm39) |
C279R |
probably damaging |
Het |
Irak4 |
A |
G |
15: 94,452,621 (GRCm39) |
E182G |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,535,723 (GRCm39) |
V274E |
probably damaging |
Het |
Lrpprc |
A |
C |
17: 85,078,269 (GRCm39) |
|
probably null |
Het |
Mast1 |
T |
C |
8: 85,645,393 (GRCm39) |
Y684C |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,722,363 (GRCm39) |
F2382L |
probably benign |
Het |
Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
Mrgpra3 |
T |
A |
7: 47,239,414 (GRCm39) |
I171F |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
Myh3 |
C |
T |
11: 66,987,262 (GRCm39) |
Q1371* |
probably null |
Het |
Nodal |
T |
A |
10: 61,258,833 (GRCm39) |
V90E |
probably benign |
Het |
Npas4 |
A |
T |
19: 5,036,579 (GRCm39) |
H528Q |
probably benign |
Het |
Nt5dc3 |
T |
C |
10: 86,660,100 (GRCm39) |
V382A |
probably damaging |
Het |
Pcdh18 |
G |
A |
3: 49,709,035 (GRCm39) |
T293I |
probably damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
Pla2r1 |
A |
G |
2: 60,279,306 (GRCm39) |
V758A |
probably benign |
Het |
Plod2 |
G |
T |
9: 92,480,672 (GRCm39) |
G422* |
probably null |
Het |
Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
Prkd3 |
G |
A |
17: 79,266,570 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,376,908 (GRCm39) |
L734P |
probably damaging |
Het |
Rnf128 |
C |
A |
X: 138,565,271 (GRCm39) |
L282I |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,359,879 (GRCm39) |
N4424S |
|
Het |
Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
Slc2a7 |
A |
G |
4: 150,242,667 (GRCm39) |
|
probably null |
Het |
Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
Spc25 |
A |
G |
2: 69,032,945 (GRCm39) |
L60P |
probably damaging |
Het |
Stam |
A |
C |
2: 14,143,772 (GRCm39) |
H354P |
probably damaging |
Het |
Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
Tmem120a |
C |
G |
5: 135,765,131 (GRCm39) |
R254P |
probably benign |
Het |
Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
Trav7-4 |
A |
G |
14: 53,699,119 (GRCm39) |
S89G |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
Vip |
T |
A |
10: 5,592,590 (GRCm39) |
S77T |
possibly damaging |
Het |
Wdr72 |
A |
T |
9: 74,125,979 (GRCm39) |
M1025L |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,806,147 (GRCm39) |
D94G |
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 |
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'- AACTACTGTGGGTGGCATG -3'
(R):5'- CCTCATTGATTCTTGGCATAGGTTAC -3'
Sequencing Primer
(F):5'- TGGCATGACTAAGTGCATTGACC -3'
(R):5'- CCAAGATGCCATATTATTGATGTCAC -3'
|
Posted On |
2015-04-30 |