Incidental Mutation 'R8857:Phf20l1'
| ID |
675433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
E130113K22Rik, CGI-72 |
| MMRRC Submission |
068677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R8857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66449409-66519825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66513781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1013
(S1013P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230948]
|
| AlphaFold |
Q8CCJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048188
AA Change: S1013P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: S1013P
| 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 benign
Transcript: ENSMUST00000229160
AA Change: S1012P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230948
AA Change: S986P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.0695 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,119,287 (GRCm39) |
L266F |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,065 (GRCm39) |
C654* |
probably null |
Het |
| Adgrl1 |
C |
A |
8: 84,657,657 (GRCm39) |
A421D |
probably benign |
Het |
| Adra1b |
C |
G |
11: 43,727,092 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,399,939 (GRCm39) |
V710E |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,264,558 (GRCm39) |
V1523A |
probably damaging |
Het |
| AW551984 |
G |
C |
9: 39,511,831 (GRCm39) |
A60G |
probably damaging |
Het |
| Bdh1 |
A |
T |
16: 31,265,450 (GRCm39) |
T42S |
probably benign |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,555 (GRCm39) |
P158L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,248,909 (GRCm39) |
K457* |
probably null |
Het |
| Chd3 |
G |
A |
11: 69,253,146 (GRCm39) |
P223L |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,437,878 (GRCm39) |
S481P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,703,485 (GRCm39) |
K3027N |
unknown |
Het |
| Csf2rb2 |
T |
C |
15: 78,178,613 (GRCm39) |
D111G |
probably null |
Het |
| Disc1 |
A |
C |
8: 125,891,870 (GRCm39) |
E641A |
probably damaging |
Het |
| Fbln5 |
C |
A |
12: 101,726,990 (GRCm39) |
C320F |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,286,933 (GRCm39) |
T242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,922,280 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
G |
C |
2: 26,230,457 (GRCm39) |
G469A |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,056,228 (GRCm39) |
I887T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,825 (GRCm39) |
V692A |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,125,063 (GRCm39) |
L40P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,298,587 (GRCm39) |
|
probably null |
Het |
| Irf2bpl |
T |
C |
12: 86,929,359 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,871,853 (GRCm39) |
N219I |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,451,949 (GRCm39) |
K257E |
|
Het |
| Krtap19-5 |
A |
T |
16: 88,693,139 (GRCm39) |
F58I |
unknown |
Het |
| L3mbtl2 |
T |
A |
15: 81,571,320 (GRCm39) |
F709L |
unknown |
Het |
| Map1a |
G |
A |
2: 121,138,098 (GRCm39) |
R2924H |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,567 (GRCm39) |
D224G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,627,484 (GRCm39) |
|
probably null |
Het |
| Mptx2 |
T |
C |
1: 173,102,452 (GRCm39) |
E79G |
probably benign |
Het |
| Nutm1 |
A |
G |
2: 112,081,523 (GRCm39) |
M380T |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,041 (GRCm39) |
I180N |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,903,197 (GRCm39) |
|
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,501,472 (GRCm39) |
I7T |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,521,556 (GRCm39) |
V1469A |
unknown |
Het |
| Polr1g |
C |
T |
7: 19,093,355 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
T |
C |
5: 116,158,147 (GRCm39) |
N150D |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,658,333 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,077,393 (GRCm39) |
S486G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,670,965 (GRCm39) |
Y170* |
probably null |
Het |
| Rims2 |
T |
A |
15: 39,543,044 (GRCm39) |
M1426K |
possibly damaging |
Het |
| Selenoi |
C |
A |
5: 30,461,160 (GRCm39) |
S132* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,978,800 (GRCm39) |
I498M |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,523 (GRCm39) |
M970T |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,427,022 (GRCm39) |
F360L |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,393,305 (GRCm39) |
Y113H |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,675,938 (GRCm39) |
M327K |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,258,288 (GRCm39) |
I152F |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,662,145 (GRCm39) |
S658T |
probably damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,433 (GRCm39) |
H132Q |
probably damaging |
Het |
| Tnfrsf10b |
G |
A |
14: 70,012,543 (GRCm39) |
V117I |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,713,728 (GRCm39) |
T719A |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,896,379 (GRCm39) |
P292S |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,615 (GRCm39) |
F88Y |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,639,226 (GRCm39) |
H138L |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,065,290 (GRCm39) |
S2T |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,334,510 (GRCm39) |
V574A |
possibly damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp488 |
A |
C |
14: 33,692,760 (GRCm39) |
S134R |
probably benign |
Het |
| Zfp950 |
T |
C |
19: 61,116,001 (GRCm39) |
D2G |
probably benign |
Het |
| Zfyve1 |
T |
A |
12: 83,598,374 (GRCm39) |
H618L |
probably damaging |
Het |
| Zp1 |
T |
G |
19: 10,893,888 (GRCm39) |
D439A |
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 |
|
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 |
|
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'- GGCTGTTCTCAGTGCCATTTAAAC -3'
(R):5'- TCCTCATTGATTCTTGGCATAGG -3'
Sequencing Primer
(F):5'- GTTCTCAGTGCCATTTAAACTTTCC -3'
(R):5'- TGATTCTTGGCATAGGTTACATTATC -3'
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| Posted On |
2021-07-15 |
Incidental Mutation