Incidental Mutation 'IGL01693:Phf8'
ID |
104179 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phf8
|
Ensembl Gene |
ENSMUSG00000041229 |
Gene Name |
PHD finger protein 8 |
Synonyms |
9830141C09Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.480)
|
Stock # |
IGL01693
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
150303668-150416855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 150333871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 113
(V113E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046950]
[ENSMUST00000046962]
[ENSMUST00000112662]
[ENSMUST00000112666]
[ENSMUST00000112668]
[ENSMUST00000112670]
[ENSMUST00000168501]
[ENSMUST00000148622]
|
AlphaFold |
Q80TJ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046950
AA Change: V113E
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040765 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
low complexity region
|
733 |
742 |
N/A |
INTRINSIC |
low complexity region
|
749 |
771 |
N/A |
INTRINSIC |
low complexity region
|
789 |
794 |
N/A |
INTRINSIC |
low complexity region
|
872 |
900 |
N/A |
INTRINSIC |
low complexity region
|
912 |
941 |
N/A |
INTRINSIC |
low complexity region
|
986 |
995 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046962
AA Change: V113E
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041312 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
low complexity region
|
448 |
464 |
N/A |
INTRINSIC |
low complexity region
|
632 |
641 |
N/A |
INTRINSIC |
low complexity region
|
648 |
670 |
N/A |
INTRINSIC |
low complexity region
|
688 |
693 |
N/A |
INTRINSIC |
low complexity region
|
771 |
779 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112662
AA Change: V113E
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108281 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
low complexity region
|
448 |
464 |
N/A |
INTRINSIC |
low complexity region
|
632 |
641 |
N/A |
INTRINSIC |
low complexity region
|
648 |
670 |
N/A |
INTRINSIC |
low complexity region
|
688 |
693 |
N/A |
INTRINSIC |
low complexity region
|
771 |
779 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112666
AA Change: V113E
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108285 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112668
AA Change: V113E
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108287 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112670
AA Change: V113E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108289 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
low complexity region
|
733 |
742 |
N/A |
INTRINSIC |
low complexity region
|
749 |
771 |
N/A |
INTRINSIC |
low complexity region
|
789 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168501
AA Change: V113E
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127653 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
JmjC
|
195 |
351 |
2.69e-49 |
SMART |
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
low complexity region
|
733 |
742 |
N/A |
INTRINSIC |
low complexity region
|
749 |
771 |
N/A |
INTRINSIC |
low complexity region
|
789 |
794 |
N/A |
INTRINSIC |
low complexity region
|
872 |
900 |
N/A |
INTRINSIC |
low complexity region
|
912 |
941 |
N/A |
INTRINSIC |
low complexity region
|
986 |
995 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148622
AA Change: V113E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122974 Gene: ENSMUSG00000041229 AA Change: V113E
Domain | Start | End | E-Value | Type |
PHD
|
7 |
54 |
1.16e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141715
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b8 |
T |
A |
6: 34,340,271 (GRCm39) |
M145K |
possibly damaging |
Het |
Arhgap39 |
T |
C |
15: 76,610,167 (GRCm39) |
D943G |
probably null |
Het |
Arhgap42 |
A |
T |
9: 9,006,507 (GRCm39) |
W630R |
probably damaging |
Het |
Bbs5 |
T |
A |
2: 69,493,424 (GRCm39) |
S225T |
probably benign |
Het |
Cacna1f |
A |
T |
X: 7,491,606 (GRCm39) |
N1159Y |
probably damaging |
Het |
Catsperg1 |
A |
G |
7: 28,884,523 (GRCm39) |
|
probably benign |
Het |
Cemip2 |
A |
C |
19: 21,779,251 (GRCm39) |
I354L |
probably benign |
Het |
Cep15 |
T |
C |
14: 12,287,380 (GRCm38) |
L55P |
probably damaging |
Het |
Cep97 |
A |
T |
16: 55,750,957 (GRCm39) |
W20R |
probably damaging |
Het |
Cmtm8 |
G |
A |
9: 114,618,773 (GRCm39) |
T160M |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,214,434 (GRCm39) |
S244P |
possibly damaging |
Het |
Dnah7b |
C |
T |
1: 46,397,307 (GRCm39) |
P3913S |
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,944,527 (GRCm39) |
|
probably null |
Het |
Ezh1 |
C |
T |
11: 101,106,084 (GRCm39) |
M100I |
probably benign |
Het |
Gadl1 |
C |
A |
9: 115,778,653 (GRCm39) |
P189Q |
probably damaging |
Het |
Gcnt2 |
G |
A |
13: 41,041,549 (GRCm39) |
S236N |
probably benign |
Het |
H1f7 |
A |
C |
15: 98,154,262 (GRCm39) |
Y296D |
unknown |
Het |
Hmcn1 |
T |
A |
1: 150,459,031 (GRCm39) |
D5191V |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,365,415 (GRCm39) |
D4194E |
probably damaging |
Het |
Ncf2 |
C |
A |
1: 152,700,074 (GRCm39) |
T203K |
probably benign |
Het |
Or5a1 |
C |
A |
19: 12,097,921 (GRCm39) |
V40L |
probably benign |
Het |
Pate8 |
G |
A |
9: 36,492,662 (GRCm39) |
T81I |
probably benign |
Het |
Pkm |
G |
T |
9: 59,577,805 (GRCm39) |
K207N |
probably damaging |
Het |
Slco1a6 |
G |
T |
6: 142,078,935 (GRCm39) |
S120* |
probably null |
Het |
Sox10 |
C |
T |
15: 79,040,473 (GRCm39) |
V195M |
possibly damaging |
Het |
Swt1 |
A |
G |
1: 151,297,855 (GRCm39) |
I24T |
probably benign |
Het |
Thada |
T |
C |
17: 84,754,072 (GRCm39) |
T300A |
probably benign |
Het |
Vmn2r17 |
T |
C |
5: 109,600,384 (GRCm39) |
Y561H |
probably damaging |
Het |
|
Other mutations in Phf8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01288:Phf8
|
APN |
X |
150,330,921 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02437:Phf8
|
APN |
X |
150,414,356 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02494:Phf8
|
APN |
X |
150,408,227 (GRCm39) |
missense |
probably benign |
0.08 |
R0389:Phf8
|
UTSW |
X |
150,335,618 (GRCm39) |
missense |
probably benign |
0.05 |
R2265:Phf8
|
UTSW |
X |
150,355,597 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2268:Phf8
|
UTSW |
X |
150,355,597 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3801:Phf8
|
UTSW |
X |
150,355,572 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3802:Phf8
|
UTSW |
X |
150,355,572 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3803:Phf8
|
UTSW |
X |
150,355,572 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3804:Phf8
|
UTSW |
X |
150,355,572 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2014-01-21 |