Incidental Mutation 'PIT4305001:Phf20l1'
ID |
554582 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4305001 (G1)
|
Quality Score |
214.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66484901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 322
(K322I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230882]
[ENSMUST00000230948]
|
AlphaFold |
Q8CCJ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048188
AA Change: K322I
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035682 Gene: ENSMUSG00000072501 AA Change: K322I
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: K321I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229576
AA Change: K322I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230882
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230948
AA Change: K295I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.3%
- 10x: 86.8%
- 20x: 76.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
A |
G |
1: 171,086,610 (GRCm39) |
N801D |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,826,721 (GRCm39) |
K661R |
probably benign |
Het |
Akap1 |
A |
T |
11: 88,735,204 (GRCm39) |
M486K |
probably benign |
Het |
Arhgap40 |
T |
A |
2: 158,373,825 (GRCm39) |
I202N |
probably benign |
Het |
C1qtnf2 |
T |
A |
11: 43,382,022 (GRCm39) |
L248Q |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,306,135 (GRCm39) |
H340L |
probably benign |
Het |
Cd5 |
A |
G |
19: 10,703,750 (GRCm39) |
V104A |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,785,138 (GRCm39) |
E3032V |
possibly damaging |
Het |
Cts7 |
A |
G |
13: 61,504,386 (GRCm39) |
I59T |
probably damaging |
Het |
Cutc |
G |
T |
19: 43,756,708 (GRCm39) |
A267S |
probably damaging |
Het |
Dmwd |
A |
G |
7: 18,814,643 (GRCm39) |
Q431R |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,042,738 (GRCm39) |
N3280S |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,412,508 (GRCm39) |
N4039I |
probably damaging |
Het |
Dnaja4 |
T |
C |
9: 54,617,918 (GRCm39) |
I260T |
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,927 (GRCm39) |
F307L |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,179,300 (GRCm39) |
S256N |
probably damaging |
Het |
Dstyk |
G |
T |
1: 132,383,634 (GRCm39) |
E617* |
probably null |
Het |
Dusp15 |
G |
A |
2: 152,787,396 (GRCm39) |
H72Y |
probably benign |
Het |
Dysf |
C |
T |
6: 84,077,216 (GRCm39) |
R660* |
probably null |
Het |
Fbxl13 |
T |
A |
5: 21,727,146 (GRCm39) |
I584L |
probably benign |
Het |
Gsap |
T |
C |
5: 21,391,407 (GRCm39) |
L16P |
probably damaging |
Het |
Hgsnat |
C |
T |
8: 26,435,227 (GRCm39) |
A636T |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,335,147 (GRCm39) |
T161A |
|
Het |
Hspg2 |
T |
C |
4: 137,277,684 (GRCm39) |
S2928P |
possibly damaging |
Het |
Ifi214 |
G |
A |
1: 173,355,485 (GRCm39) |
P108S |
probably benign |
Het |
Il17ra |
A |
T |
6: 120,458,367 (GRCm39) |
Y506F |
probably damaging |
Het |
Il9r |
T |
A |
11: 32,144,734 (GRCm39) |
Q53L |
probably benign |
Het |
Irf2bp2 |
C |
T |
8: 127,319,398 (GRCm39) |
G260R |
probably damaging |
Het |
Jdp2 |
T |
A |
12: 85,685,626 (GRCm39) |
I129N |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,305,249 (GRCm39) |
|
probably null |
Het |
Klrd1 |
A |
G |
6: 129,573,670 (GRCm39) |
T120A |
unknown |
Het |
Lfng |
A |
G |
5: 140,598,283 (GRCm39) |
N202D |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,802,095 (GRCm39) |
E757G |
probably damaging |
Het |
Ltn1 |
G |
A |
16: 87,217,211 (GRCm39) |
P342L |
probably damaging |
Het |
Lum |
A |
C |
10: 97,404,738 (GRCm39) |
Y211S |
probably damaging |
Het |
Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
Nlrc4 |
T |
C |
17: 74,753,304 (GRCm39) |
T360A |
probably damaging |
Het |
Or4c1 |
T |
C |
2: 89,133,727 (GRCm39) |
I70V |
probably benign |
Het |
Or7g32 |
T |
C |
9: 19,389,357 (GRCm39) |
Y63C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,638,029 (GRCm39) |
T22K |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,438,036 (GRCm39) |
D1035G |
probably benign |
Het |
Pik3r3 |
A |
C |
4: 116,149,323 (GRCm39) |
N349T |
probably benign |
Het |
Poc1a |
A |
G |
9: 106,227,028 (GRCm39) |
Q420R |
|
Het |
Prl7d1 |
A |
T |
13: 27,898,320 (GRCm39) |
M63K |
possibly damaging |
Het |
Rap1gds1 |
C |
A |
3: 138,662,061 (GRCm39) |
M398I |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,570,203 (GRCm39) |
V1192D |
probably damaging |
Het |
Rif1 |
T |
C |
2: 52,001,970 (GRCm39) |
V166A |
|
Het |
Robo4 |
T |
C |
9: 37,322,687 (GRCm39) |
Y847H |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,118,326 (GRCm39) |
N468S |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,628,345 (GRCm39) |
T553A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,001,976 (GRCm39) |
Y247H |
probably damaging |
Het |
Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
Ston2 |
G |
T |
12: 91,615,276 (GRCm39) |
D377E |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,283,023 (GRCm39) |
S1557P |
probably damaging |
Het |
Syt6 |
C |
T |
3: 103,482,769 (GRCm39) |
R26W |
possibly damaging |
Het |
Tep1 |
C |
T |
14: 51,066,684 (GRCm39) |
G2305R |
possibly damaging |
Het |
Ticrr |
A |
G |
7: 79,328,771 (GRCm39) |
T637A |
possibly damaging |
Het |
Tnn |
A |
T |
1: 159,913,647 (GRCm39) |
F1546Y |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,315,888 (GRCm39) |
D2055G |
possibly damaging |
Het |
Trim39 |
A |
G |
17: 36,579,862 (GRCm39) |
V31A |
possibly damaging |
Het |
Trpc7 |
G |
T |
13: 57,035,321 (GRCm39) |
T204K |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,996 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,994,590 (GRCm39) |
I6K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTTTAAAGACAGCCTATTCAAC -3'
(R):5'- ATCCTTGGCTTGTATTAACTCTGGG -3'
Sequencing Primer
(F):5'- TTAATAATTTGTGGGGTTCTTTTTGG -3'
(R):5'- ATTAACTCTGGGGCAAGTGGTGAC -3'
|
Posted On |
2019-06-07 |