Incidental Mutation 'IGL02691:Phf20l1'
| ID |
303768 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf20l1
|
| Ensembl Gene |
ENSMUSG00000072501 |
| Gene Name |
PHD finger protein 20-like 1 |
| Synonyms |
CGI-72, E130113K22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
IGL02691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
66577560-66647976 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66604864 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 269
(N269S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048188]
[ENSMUST00000229160]
[ENSMUST00000229576]
[ENSMUST00000230882]
[ENSMUST00000230948]
|
| AlphaFold |
Q8CCJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048188
AA Change: N270S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: N270S
| 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: N269S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229576
AA Change: N270S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230584
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230882
AA Change: N269S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230915
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230948
AA Change: N243S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,761,664 (GRCm38) |
S40P |
probably benign |
Het |
| Actl9 |
G |
T |
17: 33,433,118 (GRCm38) |
V51L |
probably damaging |
Het |
| Adcy6 |
A |
T |
15: 98,604,304 (GRCm38) |
F143Y |
probably damaging |
Het |
| Agps |
A |
T |
2: 75,891,860 (GRCm38) |
I465F |
probably benign |
Het |
| Armc3 |
T |
A |
2: 19,235,484 (GRCm38) |
F17L |
probably damaging |
Het |
| Arsk |
A |
C |
13: 76,074,950 (GRCm38) |
M176R |
probably damaging |
Het |
| Asz1 |
G |
A |
6: 18,076,557 (GRCm38) |
T212I |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 44,111,619 (GRCm38) |
I102T |
probably damaging |
Het |
| Bpifb6 |
T |
A |
2: 153,902,645 (GRCm38) |
L2Q |
unknown |
Het |
| Cad |
A |
G |
5: 31,055,294 (GRCm38) |
Y45C |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,486,613 (GRCm38) |
D451G |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,552,090 (GRCm38) |
I834T |
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 96,132,994 (GRCm38) |
|
probably null |
Het |
| Dhx8 |
G |
A |
11: 101,752,004 (GRCm38) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,800,767 (GRCm38) |
|
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,756,486 (GRCm38) |
D99E |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,711,892 (GRCm38) |
P34T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,744,705 (GRCm38) |
V2888E |
possibly damaging |
Het |
| Gm10451 |
T |
C |
12: 76,451,299 (GRCm38) |
|
noncoding transcript |
Het |
| Gmfg |
A |
G |
7: 28,444,870 (GRCm38) |
Y40C |
probably damaging |
Het |
| Gnal |
T |
C |
18: 67,222,675 (GRCm38) |
I369T |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,166,913 (GRCm38) |
T156A |
probably benign |
Het |
| H2-DMb2 |
A |
T |
17: 34,147,858 (GRCm38) |
H88L |
probably benign |
Het |
| Ighv7-3 |
T |
C |
12: 114,153,396 (GRCm38) |
T49A |
probably benign |
Het |
| Jakmip3 |
C |
T |
7: 139,026,844 (GRCm38) |
Q450* |
probably null |
Het |
| Klhl20 |
A |
T |
1: 161,106,874 (GRCm38) |
|
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,828,500 (GRCm38) |
T99A |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,203,085 (GRCm38) |
C118R |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,973,174 (GRCm38) |
|
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,451,326 (GRCm38) |
E294G |
probably damaging |
Het |
| Nfia |
C |
T |
4: 98,081,808 (GRCm38) |
Q373* |
probably null |
Het |
| Notch2 |
C |
A |
3: 98,135,607 (GRCm38) |
Y1429* |
probably null |
Het |
| Oc90 |
A |
G |
15: 65,882,561 (GRCm38) |
S252P |
probably damaging |
Het |
| Olfr1084 |
T |
C |
2: 86,638,838 (GRCm38) |
Y290C |
probably damaging |
Het |
| Olfr681 |
A |
G |
7: 105,122,131 (GRCm38) |
I225V |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,508,085 (GRCm38) |
|
probably benign |
Het |
| Pdss1 |
G |
A |
2: 22,915,241 (GRCm38) |
V211I |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,077,737 (GRCm38) |
M226I |
probably benign |
Het |
| Phf11c |
A |
G |
14: 59,384,787 (GRCm38) |
S259P |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 122,501,949 (GRCm38) |
V229A |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,710,963 (GRCm38) |
K997R |
probably benign |
Het |
| Ppm1m |
A |
T |
9: 106,195,369 (GRCm38) |
V449E |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 156,095,560 (GRCm38) |
|
probably benign |
Het |
| Rgs14 |
A |
G |
13: 55,379,023 (GRCm38) |
|
probably null |
Het |
| Rnf123 |
G |
A |
9: 108,068,302 (GRCm38) |
R390* |
probably null |
Het |
| Scamp5 |
G |
T |
9: 57,451,377 (GRCm38) |
R39S |
probably damaging |
Het |
| Slc5a6 |
C |
T |
5: 31,042,174 (GRCm38) |
V15I |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,105,265 (GRCm38) |
V235E |
possibly damaging |
Het |
| Tdrd1 |
G |
T |
19: 56,843,852 (GRCm38) |
E400D |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,539,544 (GRCm38) |
R1593G |
probably benign |
Het |
| Trdv2-2 |
T |
C |
14: 53,961,582 (GRCm38) |
F110L |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,734,752 (GRCm38) |
Y2871S |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,660,248 (GRCm38) |
L592R |
probably damaging |
Het |
| Vipr2 |
T |
A |
12: 116,136,229 (GRCm38) |
C239S |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,395,258 (GRCm38) |
D68V |
probably damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,024,388 (GRCm38) |
S296T |
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,451,858 (GRCm38) |
I619T |
probably benign |
Het |
|
| Other mutations in Phf20l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Phf20l1
|
APN |
15 |
66,629,035 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL00484:Phf20l1
|
APN |
15 |
66,615,633 (GRCm38) |
splice site |
probably benign |
|
|
IGL00668:Phf20l1
|
APN |
15 |
66,632,849 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00849:Phf20l1
|
APN |
15 |
66,636,832 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00954:Phf20l1
|
APN |
15 |
66,641,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01025:Phf20l1
|
APN |
15 |
66,613,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01504:Phf20l1
|
APN |
15 |
66,597,691 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02087:Phf20l1
|
APN |
15 |
66,628,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02273:Phf20l1
|
APN |
15 |
66,640,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02276:Phf20l1
|
APN |
15 |
66,615,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02372:Phf20l1
|
APN |
15 |
66,641,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02589:Phf20l1
|
APN |
15 |
66,615,632 (GRCm38) |
splice site |
probably benign |
|
|
IGL02656:Phf20l1
|
APN |
15 |
66,629,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02881:Phf20l1
|
APN |
15 |
66,594,980 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02940:Phf20l1
|
APN |
15 |
66,595,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02943:Phf20l1
|
APN |
15 |
66,594,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03030:Phf20l1
|
APN |
15 |
66,641,947 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03034:Phf20l1
|
APN |
15 |
66,597,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Abbreviated
|
UTSW |
15 |
66,632,903 (GRCm38) |
critical splice donor site |
probably null |
|
|
acadia
|
UTSW |
15 |
66,636,820 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
curt
|
UTSW |
15 |
66,639,948 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
Cut
|
UTSW |
15 |
66,613,039 (GRCm38) |
nonsense |
probably null |
|
|
shorthand
|
UTSW |
15 |
66,609,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
slang
|
UTSW |
15 |
66,641,932 (GRCm38) |
missense |
probably benign |
0.03 |
|
PIT4305001:Phf20l1
|
UTSW |
15 |
66,613,052 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0070:Phf20l1
|
UTSW |
15 |
66,639,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0070:Phf20l1
|
UTSW |
15 |
66,639,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0562:Phf20l1
|
UTSW |
15 |
66,609,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0605:Phf20l1
|
UTSW |
15 |
66,595,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0787:Phf20l1
|
UTSW |
15 |
66,615,630 (GRCm38) |
splice site |
probably benign |
|
|
R1458:Phf20l1
|
UTSW |
15 |
66,604,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1619:Phf20l1
|
UTSW |
15 |
66,615,259 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1781:Phf20l1
|
UTSW |
15 |
66,632,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2360:Phf20l1
|
UTSW |
15 |
66,594,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Phf20l1
|
UTSW |
15 |
66,641,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4374:Phf20l1
|
UTSW |
15 |
66,604,837 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4375:Phf20l1
|
UTSW |
15 |
66,615,222 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4554:Phf20l1
|
UTSW |
15 |
66,597,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4913:Phf20l1
|
UTSW |
15 |
66,604,855 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5092:Phf20l1
|
UTSW |
15 |
66,636,913 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5491:Phf20l1
|
UTSW |
15 |
66,615,785 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5713:Phf20l1
|
UTSW |
15 |
66,636,820 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6126:Phf20l1
|
UTSW |
15 |
66,636,824 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6213:Phf20l1
|
UTSW |
15 |
66,632,903 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6569:Phf20l1
|
UTSW |
15 |
66,629,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6572:Phf20l1
|
UTSW |
15 |
66,609,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6808:Phf20l1
|
UTSW |
15 |
66,630,913 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7100:Phf20l1
|
UTSW |
15 |
66,604,840 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7208:Phf20l1
|
UTSW |
15 |
66,604,789 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7436:Phf20l1
|
UTSW |
15 |
66,597,750 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7466:Phf20l1
|
UTSW |
15 |
66,636,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7604:Phf20l1
|
UTSW |
15 |
66,604,084 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7863:Phf20l1
|
UTSW |
15 |
66,615,235 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7991:Phf20l1
|
UTSW |
15 |
66,630,919 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8015:Phf20l1
|
UTSW |
15 |
66,639,948 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8161:Phf20l1
|
UTSW |
15 |
66,604,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8228:Phf20l1
|
UTSW |
15 |
66,639,940 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8857:Phf20l1
|
UTSW |
15 |
66,641,932 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9295:Phf20l1
|
UTSW |
15 |
66,641,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9393:Phf20l1
|
UTSW |
15 |
66,604,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9442:Phf20l1
|
UTSW |
15 |
66,613,039 (GRCm38) |
nonsense |
probably null |
|
|
R9522:Phf20l1
|
UTSW |
15 |
66,632,820 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9727:Phf20l1
|
UTSW |
15 |
66,615,382 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0065:Phf20l1
|
UTSW |
15 |
66,629,806 (GRCm38) |
nonsense |
probably null |
|
|
X0065:Phf20l1
|
UTSW |
15 |
66,597,678 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation