Incidental Mutation 'IGL02070:Phf8-ps'
| ID |
185772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf8-ps
|
| Ensembl Gene |
ENSMUSG00000023350 |
| Gene Name |
PHD finger protein 8, pseudogene |
| Synonyms |
4921501E09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL02070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33285104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 566
(E566G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024121]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024121
AA Change: E566G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: E566G
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
7 |
54 |
1.5e-8 |
SMART |
|
JmjC
|
195 |
351 |
1.38e-46 |
SMART |
|
low complexity region
|
475 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
745 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
| Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,235,530 (GRCm39) |
E988A |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
| Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
| Gabrr2 |
G |
T |
4: 33,095,340 (GRCm39) |
E385* |
probably null |
Het |
| Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,380 (GRCm39) |
L181P |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
| Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
| Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
| Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
| Pknox1 |
T |
A |
17: 31,822,339 (GRCm39) |
|
probably benign |
Het |
| Ppa2 |
T |
C |
3: 133,083,623 (GRCm39) |
F327S |
probably damaging |
Het |
| Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
| Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 66,005,731 (GRCm39) |
S129R |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
| Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
probably damaging |
Het |
|
| Other mutations in Phf8-ps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Phf8-ps
|
APN |
17 |
33,284,837 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00790:Phf8-ps
|
APN |
17 |
33,286,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01146:Phf8-ps
|
APN |
17 |
33,284,357 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01755:Phf8-ps
|
APN |
17 |
33,285,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01880:Phf8-ps
|
APN |
17 |
33,285,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01981:Phf8-ps
|
APN |
17 |
33,286,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Phf8-ps
|
APN |
17 |
33,285,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02047:Phf8-ps
|
APN |
17 |
33,286,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Phf8-ps
|
UTSW |
17 |
33,285,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Phf8-ps
|
UTSW |
17 |
33,285,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Phf8-ps
|
UTSW |
17 |
33,284,263 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1528:Phf8-ps
|
UTSW |
17 |
33,286,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Phf8-ps
|
UTSW |
17 |
33,284,679 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1664:Phf8-ps
|
UTSW |
17 |
33,285,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Phf8-ps
|
UTSW |
17 |
33,286,662 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1881:Phf8-ps
|
UTSW |
17 |
33,284,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Phf8-ps
|
UTSW |
17 |
33,285,941 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2029:Phf8-ps
|
UTSW |
17 |
33,286,598 (GRCm39) |
nonsense |
probably null |
|
|
R2152:Phf8-ps
|
UTSW |
17 |
33,285,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2298:Phf8-ps
|
UTSW |
17 |
33,285,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Phf8-ps
|
UTSW |
17 |
33,284,936 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2424:Phf8-ps
|
UTSW |
17 |
33,284,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3973:Phf8-ps
|
UTSW |
17 |
33,285,405 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3976:Phf8-ps
|
UTSW |
17 |
33,285,405 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4159:Phf8-ps
|
UTSW |
17 |
33,285,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4160:Phf8-ps
|
UTSW |
17 |
33,285,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4161:Phf8-ps
|
UTSW |
17 |
33,285,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4761:Phf8-ps
|
UTSW |
17 |
33,286,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Phf8-ps
|
UTSW |
17 |
33,285,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5039:Phf8-ps
|
UTSW |
17 |
33,286,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Phf8-ps
|
UTSW |
17 |
33,285,739 (GRCm39) |
nonsense |
probably null |
|
|
R5383:Phf8-ps
|
UTSW |
17 |
33,284,231 (GRCm39) |
missense |
probably benign |
|
|
R5520:Phf8-ps
|
UTSW |
17 |
33,284,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5588:Phf8-ps
|
UTSW |
17 |
33,285,249 (GRCm39) |
nonsense |
probably null |
|
|
R5685:Phf8-ps
|
UTSW |
17 |
33,285,746 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5826:Phf8-ps
|
UTSW |
17 |
33,284,288 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5907:Phf8-ps
|
UTSW |
17 |
33,285,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6397:Phf8-ps
|
UTSW |
17 |
33,285,219 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6731:Phf8-ps
|
UTSW |
17 |
33,285,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6750:Phf8-ps
|
UTSW |
17 |
33,285,372 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7043:Phf8-ps
|
UTSW |
17 |
33,284,306 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7242:Phf8-ps
|
UTSW |
17 |
33,286,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Phf8-ps
|
UTSW |
17 |
33,285,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7265:Phf8-ps
|
UTSW |
17 |
33,285,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7286:Phf8-ps
|
UTSW |
17 |
33,284,501 (GRCm39) |
missense |
probably benign |
|
|
R7797:Phf8-ps
|
UTSW |
17 |
33,286,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8315:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8376:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8377:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8378:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8404:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8405:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8406:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8425:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8501:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8502:Phf8-ps
|
UTSW |
17 |
33,286,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9091:Phf8-ps
|
UTSW |
17 |
33,286,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Phf8-ps
|
UTSW |
17 |
33,286,494 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9270:Phf8-ps
|
UTSW |
17 |
33,286,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Phf8-ps
|
UTSW |
17 |
33,285,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Phf8-ps
|
UTSW |
17 |
33,285,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Phf8-ps
|
UTSW |
17 |
33,284,631 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation