Incidental Mutation 'R7991:Phf20l1'
| ID |
651760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
046032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R7991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 66502768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 716
(D716A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230948]
|
| AlphaFold |
Q8CCJ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048188
AA Change: D716A
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: D716A
| 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 |
possibly damaging
Transcript: ENSMUST00000229160
AA Change: D715A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
AA Change: D689A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,185,726 (GRCm39) |
D1200G |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,537 (GRCm39) |
L624P |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,114,949 (GRCm39) |
|
probably null |
Het |
| Ap2a2 |
A |
G |
7: 141,189,760 (GRCm39) |
Y249C |
probably damaging |
Het |
| Asxl2 |
A |
T |
12: 3,534,531 (GRCm39) |
N243Y |
probably damaging |
Het |
| Btnl4 |
A |
G |
17: 34,693,257 (GRCm39) |
S53P |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,651,513 (GRCm39) |
D116G |
possibly damaging |
Het |
| Ccdc121rt2 |
G |
A |
5: 112,598,791 (GRCm39) |
R446H |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,098,869 (GRCm39) |
H743L |
probably benign |
Het |
| Ccdc81 |
G |
A |
7: 89,539,609 (GRCm39) |
A209V |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,101,887 (GRCm39) |
S347P |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,828,489 (GRCm39) |
A194S |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,756 (GRCm39) |
V206A |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,658,500 (GRCm39) |
V905E |
possibly damaging |
Het |
| Cluap1 |
A |
G |
16: 3,746,485 (GRCm39) |
E282G |
probably damaging |
Het |
| Cmtm2b |
T |
A |
8: 105,056,419 (GRCm39) |
C109* |
probably null |
Het |
| Crtac1 |
T |
C |
19: 42,322,399 (GRCm39) |
N114D |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,013,634 (GRCm39) |
Y168H |
|
Het |
| Dock6 |
T |
C |
9: 21,757,858 (GRCm39) |
D82G |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Erfl |
G |
A |
7: 24,627,975 (GRCm39) |
P185S |
possibly damaging |
Het |
| Fh1 |
T |
C |
1: 175,437,337 (GRCm39) |
Y254C |
probably damaging |
Het |
| H2-Q1 |
T |
A |
17: 35,540,356 (GRCm39) |
L147Q |
probably damaging |
Het |
| H3c8 |
T |
A |
13: 23,719,887 (GRCm39) |
M91K |
probably benign |
Het |
| Hnrnpu |
A |
T |
1: 178,159,871 (GRCm39) |
D403E |
unknown |
Het |
| Il34 |
T |
C |
8: 111,476,122 (GRCm39) |
K33E |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,934,434 (GRCm39) |
V195A |
possibly damaging |
Het |
| Lair1 |
G |
T |
7: 4,031,969 (GRCm39) |
T46N |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,805 (GRCm39) |
E442G |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,202,963 (GRCm39) |
I400F |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,908,771 (GRCm39) |
I14T |
probably benign |
Het |
| Or13p10 |
T |
A |
4: 118,523,489 (GRCm39) |
C258* |
probably null |
Het |
| Or1ad8 |
T |
G |
11: 50,898,071 (GRCm39) |
S91A |
possibly damaging |
Het |
| Or4z4 |
A |
C |
19: 12,076,190 (GRCm39) |
V271G |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,760 (GRCm39) |
L8P |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,275,639 (GRCm39) |
I286F |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,335,419 (GRCm39) |
I23T |
probably benign |
Het |
| Papss2 |
G |
T |
19: 32,629,403 (GRCm39) |
V331F |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,909 (GRCm39) |
S667P |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,607,390 (GRCm39) |
S75T |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,791,595 (GRCm39) |
E1094G |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,618,152 (GRCm39) |
K104E |
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,509,750 (GRCm39) |
Y195C |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,340,031 (GRCm39) |
L265Q |
probably benign |
Het |
| Prc1 |
A |
T |
7: 79,961,969 (GRCm39) |
N489I |
possibly damaging |
Het |
| Prss59 |
A |
C |
6: 40,905,444 (GRCm39) |
|
probably null |
Het |
| Psg22 |
A |
C |
7: 18,460,861 (GRCm39) |
N497H |
probably damaging |
Het |
| Pum3 |
T |
A |
19: 27,389,620 (GRCm39) |
I411F |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rev3l |
A |
T |
10: 39,739,734 (GRCm39) |
I2861L |
possibly damaging |
Het |
| Rsf1 |
A |
C |
7: 97,310,540 (GRCm39) |
K423N |
|
Het |
| Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,170,654 (GRCm39) |
E216G |
probably benign |
Het |
| Sppl2c |
T |
C |
11: 104,078,640 (GRCm39) |
V480A |
possibly damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,189 (GRCm39) |
T330A |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,088,253 (GRCm39) |
D1073G |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
| Tbc1d4 |
T |
A |
14: 101,845,715 (GRCm39) |
E61V |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,926,983 (GRCm39) |
T848S |
probably benign |
Het |
| Trmt5 |
A |
G |
12: 73,329,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,132,583 (GRCm39) |
V399A |
possibly damaging |
Het |
| Tstd2 |
T |
C |
4: 46,133,646 (GRCm39) |
T59A |
unknown |
Het |
| Ubash3a |
T |
A |
17: 31,456,869 (GRCm39) |
L510M |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,783,200 (GRCm39) |
I713N |
probably damaging |
Het |
| Upf3a |
A |
G |
8: 13,842,166 (GRCm39) |
E194G |
probably damaging |
Het |
| Usp22 |
A |
T |
11: 61,065,588 (GRCm39) |
Y42N |
probably benign |
Het |
| Vav3 |
T |
A |
3: 109,470,478 (GRCm39) |
C555S |
probably damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,684 (GRCm39) |
M201L |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,554,051 (GRCm39) |
Q194K |
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 |
|
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 |
|
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'- GGCACATAGAACTTGAATTAGCAGG -3'
(R):5'- TGTGCAGGTGATTACTATGAAAGTC -3'
Sequencing Primer
(F):5'- CTTGAATTAGCAGGACAGGATGGC -3'
(R):5'- CTATGAAAGTCATGCTGTAACAGGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation