Incidental Mutation 'R7436:Phf20l1'
| ID |
580576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
045512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R7436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66469599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 168
(S168I)
|
| 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: S168I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: S168I
| 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: S168I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229576
AA Change: S168I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230882
AA Change: S168I
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
G |
14: 41,805,178 (GRCm39) |
|
probably null |
Het |
| 2310034C09Rik |
A |
G |
16: 88,556,242 (GRCm39) |
Y152C |
probably benign |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,736,354 (GRCm39) |
S103P |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,981,435 (GRCm39) |
|
probably null |
Het |
| Apoa1 |
T |
A |
9: 46,141,100 (GRCm39) |
|
probably null |
Het |
| Asb16 |
A |
G |
11: 102,163,481 (GRCm39) |
D157G |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 135,761,561 (GRCm39) |
N748D |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,102,127 (GRCm39) |
G46W |
probably damaging |
Het |
| Ccdc202 |
A |
T |
14: 96,120,027 (GRCm39) |
K261N |
probably benign |
Het |
| Ccdc73 |
T |
A |
2: 104,782,214 (GRCm39) |
V190E |
probably damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
G |
19: 10,559,696 (GRCm39) |
Y7C |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,668 (GRCm39) |
D427V |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,131 (GRCm39) |
T295A |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,447 (GRCm39) |
T510A |
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,300,865 (GRCm39) |
E26* |
probably null |
Het |
| Dusp10 |
T |
C |
1: 183,801,418 (GRCm39) |
I395T |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,772,352 (GRCm39) |
H439L |
probably damaging |
Het |
| Heatr5b |
T |
A |
17: 79,075,962 (GRCm39) |
D1452V |
probably benign |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,112 (GRCm39) |
F278L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,975 (GRCm39) |
M702K |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,310,546 (GRCm39) |
F4081L |
probably damaging |
Het |
| Ido1 |
T |
G |
8: 25,076,932 (GRCm39) |
T209P |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,691,303 (GRCm39) |
Y689C |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,350,436 (GRCm39) |
R3809Q |
probably benign |
Het |
| Manea |
T |
C |
4: 26,328,228 (GRCm39) |
Y271C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,971,036 (GRCm39) |
T1014A |
probably benign |
Het |
| Nek5 |
A |
G |
8: 22,598,056 (GRCm39) |
F200L |
probably damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,984 (GRCm39) |
I226V |
probably benign |
Het |
| Nipsnap3a |
A |
T |
4: 52,994,159 (GRCm39) |
N80I |
probably damaging |
Het |
| Nmur1 |
G |
A |
1: 86,314,100 (GRCm39) |
P389S |
probably benign |
Het |
| Or10d5 |
G |
T |
9: 39,861,349 (GRCm39) |
C239* |
probably null |
Het |
| Or1p1 |
T |
C |
11: 74,179,511 (GRCm39) |
L13P |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,251 (GRCm39) |
Y290C |
probably damaging |
Het |
| Patl2 |
A |
C |
2: 121,958,006 (GRCm39) |
V84G |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,328 (GRCm39) |
V546A |
probably damaging |
Het |
| Phgdh |
T |
C |
3: 98,247,045 (GRCm39) |
N35S |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,768,789 (GRCm39) |
M180K |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,270,925 (GRCm39) |
H3209Q |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,624,861 (GRCm39) |
F436L |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,068,553 (GRCm39) |
T1358A |
probably benign |
Het |
| Poll |
C |
T |
19: 45,541,496 (GRCm39) |
V491M |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,024,553 (GRCm39) |
|
probably null |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,279 (GRCm39) |
W258* |
probably null |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,142 (GRCm39) |
F430I |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,555,742 (GRCm39) |
E739G |
probably damaging |
Het |
| Ramp2 |
T |
C |
11: 101,138,765 (GRCm39) |
V148A |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,501,747 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,627,593 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,254,241 (GRCm39) |
S88C |
probably benign |
Het |
| Rpl12 |
A |
G |
2: 32,853,836 (GRCm39) |
I155V |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,841,520 (GRCm39) |
T275S |
probably benign |
Het |
| Senp5 |
C |
T |
16: 31,794,847 (GRCm39) |
E596K |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,379,916 (GRCm39) |
Y85C |
probably benign |
Het |
| Serpinf1 |
T |
A |
11: 75,307,142 (GRCm39) |
Y65F |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,068,404 (GRCm39) |
|
probably null |
Het |
| Spatc1 |
A |
T |
15: 76,152,568 (GRCm39) |
Q66L |
probably benign |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,439,110 (GRCm39) |
D342G |
probably benign |
Het |
| Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
| Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,315,535 (GRCm39) |
N3025K |
possibly damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,862 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,694 (GRCm39) |
S157T |
probably benign |
Het |
| Zfp977 |
A |
G |
7: 42,229,884 (GRCm39) |
S214P |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,828,979 (GRCm39) |
L507P |
possibly 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 |
|
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 |
|
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'- TGAGAGCCCCAAATAGCAGC -3'
(R):5'- TATGCTACTCAGAGAGCCCTATCTG -3'
Sequencing Primer
(F):5'- GCCCCAAATAGCAGCAAGAAAGAG -3'
(R):5'- TATCTGAAACAGCCTACAGAGTGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation