Incidental Mutation 'R9594:Phf3'
ID |
723131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf3
|
Ensembl Gene |
ENSMUSG00000048874 |
Gene Name |
PHD finger protein 3 |
Synonyms |
AU020177, 2310061N19Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9594 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
30841417-30912989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 30869003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Glutamic Acid
at position 682
(Q682E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088310]
[ENSMUST00000186733]
[ENSMUST00000188780]
[ENSMUST00000191064]
|
AlphaFold |
B2RQG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088310
AA Change: Q682E
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000085650 Gene: ENSMUSG00000048874 AA Change: Q682E
Domain | Start | End | E-Value | Type |
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
low complexity region
|
337 |
344 |
N/A |
INTRINSIC |
low complexity region
|
600 |
611 |
N/A |
INTRINSIC |
low complexity region
|
651 |
660 |
N/A |
INTRINSIC |
PHD
|
697 |
748 |
3.82e-10 |
SMART |
low complexity region
|
847 |
859 |
N/A |
INTRINSIC |
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
TFS2M
|
908 |
1008 |
1.28e-47 |
SMART |
Pfam:SPOC
|
1188 |
1294 |
4.2e-26 |
PFAM |
low complexity region
|
1367 |
1373 |
N/A |
INTRINSIC |
low complexity region
|
1516 |
1529 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1620 |
N/A |
INTRINSIC |
low complexity region
|
1796 |
1811 |
N/A |
INTRINSIC |
low complexity region
|
1813 |
1846 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186733
AA Change: Q682E
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000139610 Gene: ENSMUSG00000048874 AA Change: Q682E
Domain | Start | End | E-Value | Type |
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
low complexity region
|
337 |
344 |
N/A |
INTRINSIC |
low complexity region
|
600 |
611 |
N/A |
INTRINSIC |
low complexity region
|
651 |
660 |
N/A |
INTRINSIC |
PHD
|
697 |
748 |
3.82e-10 |
SMART |
low complexity region
|
847 |
859 |
N/A |
INTRINSIC |
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
TFS2M
|
908 |
1008 |
1.28e-47 |
SMART |
Pfam:SPOC
|
1188 |
1294 |
4.2e-26 |
PFAM |
low complexity region
|
1367 |
1373 |
N/A |
INTRINSIC |
low complexity region
|
1516 |
1529 |
N/A |
INTRINSIC |
low complexity region
|
1597 |
1620 |
N/A |
INTRINSIC |
low complexity region
|
1796 |
1811 |
N/A |
INTRINSIC |
low complexity region
|
1813 |
1846 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188780
|
SMART Domains |
Protein: ENSMUSP00000140935 Gene: ENSMUSG00000048874
Domain | Start | End | E-Value | Type |
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191064
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aida |
T |
C |
1: 183,095,012 (GRCm39) |
V151A |
possibly damaging |
Het |
Akap3 |
T |
C |
6: 126,842,377 (GRCm39) |
V332A |
probably damaging |
Het |
Apobec3 |
T |
A |
15: 79,790,653 (GRCm39) |
W332R |
|
Het |
Atf6 |
A |
G |
1: 170,668,402 (GRCm39) |
V166A |
probably benign |
Het |
Bcl6b |
A |
G |
11: 70,118,858 (GRCm39) |
|
probably null |
Het |
Brd3 |
G |
T |
2: 27,340,373 (GRCm39) |
P612Q |
probably damaging |
Het |
Btg1 |
T |
A |
10: 96,453,263 (GRCm39) |
L26H |
probably damaging |
Het |
Btg4 |
A |
G |
9: 51,030,560 (GRCm39) |
D220G |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,901,183 (GRCm39) |
D157G |
probably benign |
Het |
Cdhr18 |
A |
T |
14: 13,814,959 (GRCm38) |
L858Q |
unknown |
Het |
Cimip2b |
T |
G |
4: 43,427,329 (GRCm39) |
T332P |
unknown |
Het |
Dnah10 |
T |
C |
5: 124,907,107 (GRCm39) |
L4269P |
probably damaging |
Het |
Dync1li2 |
C |
A |
8: 105,154,752 (GRCm39) |
K285N |
possibly damaging |
Het |
Ehmt2 |
C |
A |
17: 35,118,740 (GRCm39) |
Q198K |
possibly damaging |
Het |
Foxn3 |
C |
A |
12: 99,359,294 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
C |
T |
11: 52,664,694 (GRCm39) |
P8L |
probably benign |
Het |
G6pc1 |
T |
C |
11: 101,258,660 (GRCm39) |
I13T |
possibly damaging |
Het |
Ghrhr |
A |
G |
6: 55,362,470 (GRCm39) |
I356V |
probably benign |
Het |
Gm14410 |
A |
T |
2: 176,885,773 (GRCm39) |
C164S |
probably damaging |
Het |
Gpcpd1 |
A |
T |
2: 132,388,848 (GRCm39) |
M308K |
possibly damaging |
Het |
Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
C |
11: 97,225,727 (GRCm39) |
K2143E |
probably benign |
Het |
Grm2 |
G |
A |
9: 106,524,408 (GRCm39) |
T298I |
probably damaging |
Het |
H2-T24 |
A |
T |
17: 36,326,455 (GRCm39) |
L148Q |
probably damaging |
Het |
Hcn2 |
C |
T |
10: 79,560,559 (GRCm39) |
R297C |
probably damaging |
Het |
Hic1 |
T |
C |
11: 75,056,757 (GRCm39) |
T711A |
possibly damaging |
Het |
Ide |
T |
C |
19: 37,264,514 (GRCm39) |
D672G |
|
Het |
Impg1 |
A |
G |
9: 80,288,923 (GRCm39) |
F378S |
probably damaging |
Het |
Lipe |
T |
C |
7: 25,098,128 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,156,136 (GRCm39) |
D1270G |
probably null |
Het |
Mbnl1 |
A |
T |
3: 60,520,859 (GRCm39) |
H149L |
probably damaging |
Het |
Mmel1 |
T |
C |
4: 154,978,592 (GRCm39) |
Y675H |
probably benign |
Het |
Mrfap1 |
C |
A |
5: 36,953,807 (GRCm39) |
R44L |
probably damaging |
Het |
Nherf2 |
G |
T |
17: 24,868,922 (GRCm39) |
T68K |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,041,889 (GRCm39) |
T1303A |
possibly damaging |
Het |
Olfm3 |
A |
G |
3: 114,883,785 (GRCm39) |
D62G |
probably damaging |
Het |
Or10ak13 |
T |
C |
4: 118,638,952 (GRCm39) |
I277V |
probably benign |
Het |
Or2i1 |
C |
G |
17: 37,508,308 (GRCm39) |
A109P |
possibly damaging |
Het |
Or5g27 |
C |
T |
2: 85,409,882 (GRCm39) |
Q100* |
probably null |
Het |
Or5l13 |
T |
C |
2: 87,780,544 (GRCm39) |
E11G |
probably damaging |
Het |
Or5p59 |
T |
G |
7: 107,702,663 (GRCm39) |
I49S |
probably damaging |
Het |
Or6c8b |
T |
A |
10: 128,882,354 (GRCm39) |
I193F |
probably benign |
Het |
Pcbd2 |
A |
G |
13: 55,880,849 (GRCm39) |
Y68C |
probably benign |
Het |
Ptpn6 |
C |
A |
6: 124,704,728 (GRCm39) |
R294L |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,025,026 (GRCm39) |
V1754D |
probably damaging |
Het |
Rab36 |
T |
A |
10: 74,887,873 (GRCm39) |
I248K |
probably damaging |
Het |
Rabac1 |
A |
G |
7: 24,671,579 (GRCm39) |
Y114H |
probably benign |
Het |
Rag1 |
A |
G |
2: 101,474,701 (GRCm39) |
V147A |
probably benign |
Het |
Rnf150 |
T |
A |
8: 83,717,144 (GRCm39) |
V217D |
probably damaging |
Het |
Scarf2 |
G |
T |
16: 17,620,473 (GRCm39) |
C101F |
probably damaging |
Het |
Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,089,100 (GRCm39) |
V550A |
probably damaging |
Het |
Sp140 |
A |
G |
1: 85,560,235 (GRCm39) |
N289S |
possibly damaging |
Het |
Spmip6 |
T |
C |
4: 41,505,091 (GRCm39) |
E207G |
|
Het |
Stac3 |
T |
A |
10: 127,338,654 (GRCm39) |
M1K |
probably null |
Het |
Stk31 |
C |
T |
6: 49,424,221 (GRCm39) |
T845I |
possibly damaging |
Het |
Sufu |
T |
C |
19: 46,385,674 (GRCm39) |
Y45H |
probably damaging |
Het |
Tg |
T |
A |
15: 66,607,109 (GRCm39) |
C1834* |
probably null |
Het |
Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
Tpcn1 |
T |
C |
5: 120,686,021 (GRCm39) |
T427A |
possibly damaging |
Het |
Trim45 |
A |
G |
3: 100,830,265 (GRCm39) |
H13R |
probably benign |
Het |
Trpv5 |
A |
G |
6: 41,647,773 (GRCm39) |
F347L |
probably benign |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Zfp236 |
G |
T |
18: 82,664,238 (GRCm39) |
Q516K |
probably damaging |
Het |
|
Other mutations in Phf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Phf3
|
APN |
1 |
30,850,928 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00704:Phf3
|
APN |
1 |
30,843,919 (GRCm39) |
missense |
probably benign |
|
IGL01147:Phf3
|
APN |
1 |
30,843,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01360:Phf3
|
APN |
1 |
30,847,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01376:Phf3
|
APN |
1 |
30,869,566 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01396:Phf3
|
APN |
1 |
30,843,386 (GRCm39) |
nonsense |
probably null |
|
IGL01830:Phf3
|
APN |
1 |
30,853,148 (GRCm39) |
nonsense |
probably null |
|
IGL02108:Phf3
|
APN |
1 |
30,869,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Phf3
|
APN |
1 |
30,847,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02576:Phf3
|
APN |
1 |
30,869,117 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03031:Phf3
|
APN |
1 |
30,843,734 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03334:Phf3
|
APN |
1 |
30,844,810 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03411:Phf3
|
APN |
1 |
30,843,482 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4976:Phf3
|
UTSW |
1 |
30,844,104 (GRCm39) |
utr 3 prime |
probably benign |
|
PIT4458001:Phf3
|
UTSW |
1 |
30,855,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Phf3
|
UTSW |
1 |
30,843,999 (GRCm39) |
missense |
probably benign |
0.03 |
R0052:Phf3
|
UTSW |
1 |
30,847,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Phf3
|
UTSW |
1 |
30,844,524 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0123:Phf3
|
UTSW |
1 |
30,844,146 (GRCm39) |
missense |
probably benign |
0.01 |
R0225:Phf3
|
UTSW |
1 |
30,844,146 (GRCm39) |
missense |
probably benign |
0.01 |
R0715:Phf3
|
UTSW |
1 |
30,850,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Phf3
|
UTSW |
1 |
30,869,632 (GRCm39) |
missense |
probably benign |
0.02 |
R0848:Phf3
|
UTSW |
1 |
30,902,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Phf3
|
UTSW |
1 |
30,845,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Phf3
|
UTSW |
1 |
30,844,729 (GRCm39) |
missense |
probably benign |
0.05 |
R1549:Phf3
|
UTSW |
1 |
30,843,923 (GRCm39) |
missense |
probably benign |
0.00 |
R1555:Phf3
|
UTSW |
1 |
30,844,958 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1780:Phf3
|
UTSW |
1 |
30,851,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R1789:Phf3
|
UTSW |
1 |
30,845,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R1875:Phf3
|
UTSW |
1 |
30,869,704 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1912:Phf3
|
UTSW |
1 |
30,843,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Phf3
|
UTSW |
1 |
30,870,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Phf3
|
UTSW |
1 |
30,850,928 (GRCm39) |
missense |
probably damaging |
0.99 |
R2259:Phf3
|
UTSW |
1 |
30,843,424 (GRCm39) |
missense |
probably benign |
0.20 |
R2305:Phf3
|
UTSW |
1 |
30,844,556 (GRCm39) |
nonsense |
probably null |
|
R2345:Phf3
|
UTSW |
1 |
30,844,432 (GRCm39) |
nonsense |
probably null |
|
R2424:Phf3
|
UTSW |
1 |
30,845,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Phf3
|
UTSW |
1 |
30,869,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Phf3
|
UTSW |
1 |
30,849,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R3522:Phf3
|
UTSW |
1 |
30,844,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R3816:Phf3
|
UTSW |
1 |
30,844,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4152:Phf3
|
UTSW |
1 |
30,870,539 (GRCm39) |
missense |
probably benign |
0.13 |
R4403:Phf3
|
UTSW |
1 |
30,843,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Phf3
|
UTSW |
1 |
30,902,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R4663:Phf3
|
UTSW |
1 |
30,860,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Phf3
|
UTSW |
1 |
30,869,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R4706:Phf3
|
UTSW |
1 |
30,844,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R4757:Phf3
|
UTSW |
1 |
30,859,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Phf3
|
UTSW |
1 |
30,853,020 (GRCm39) |
unclassified |
probably benign |
|
R4786:Phf3
|
UTSW |
1 |
30,855,638 (GRCm39) |
nonsense |
probably null |
|
R5107:Phf3
|
UTSW |
1 |
30,870,566 (GRCm39) |
missense |
probably benign |
0.03 |
R5155:Phf3
|
UTSW |
1 |
30,863,457 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5310:Phf3
|
UTSW |
1 |
30,842,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5823:Phf3
|
UTSW |
1 |
30,843,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Phf3
|
UTSW |
1 |
30,859,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R5979:Phf3
|
UTSW |
1 |
30,844,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Phf3
|
UTSW |
1 |
30,843,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Phf3
|
UTSW |
1 |
30,902,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6072:Phf3
|
UTSW |
1 |
30,869,769 (GRCm39) |
missense |
probably benign |
0.08 |
R6533:Phf3
|
UTSW |
1 |
30,845,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Phf3
|
UTSW |
1 |
30,844,104 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6653:Phf3
|
UTSW |
1 |
30,844,104 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6852:Phf3
|
UTSW |
1 |
30,843,711 (GRCm39) |
missense |
probably damaging |
0.97 |
R6855:Phf3
|
UTSW |
1 |
30,859,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6862:Phf3
|
UTSW |
1 |
30,853,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Phf3
|
UTSW |
1 |
30,850,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7135:Phf3
|
UTSW |
1 |
30,870,190 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7323:Phf3
|
UTSW |
1 |
30,852,211 (GRCm39) |
missense |
probably benign |
0.01 |
R7352:Phf3
|
UTSW |
1 |
30,843,407 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7455:Phf3
|
UTSW |
1 |
30,876,239 (GRCm39) |
missense |
probably damaging |
0.96 |
R7549:Phf3
|
UTSW |
1 |
30,870,556 (GRCm39) |
missense |
probably benign |
0.01 |
R7609:Phf3
|
UTSW |
1 |
30,844,582 (GRCm39) |
missense |
probably benign |
0.05 |
R7720:Phf3
|
UTSW |
1 |
30,868,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R7745:Phf3
|
UTSW |
1 |
30,843,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R8134:Phf3
|
UTSW |
1 |
30,863,552 (GRCm39) |
missense |
unknown |
|
R8264:Phf3
|
UTSW |
1 |
30,870,138 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8545:Phf3
|
UTSW |
1 |
30,863,391 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8821:Phf3
|
UTSW |
1 |
30,860,347 (GRCm39) |
nonsense |
probably null |
|
R8831:Phf3
|
UTSW |
1 |
30,860,347 (GRCm39) |
nonsense |
probably null |
|
R8873:Phf3
|
UTSW |
1 |
30,843,773 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9101:Phf3
|
UTSW |
1 |
30,843,026 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9402:Phf3
|
UTSW |
1 |
30,850,928 (GRCm39) |
missense |
probably damaging |
0.99 |
R9426:Phf3
|
UTSW |
1 |
30,870,625 (GRCm39) |
nonsense |
probably null |
|
R9707:Phf3
|
UTSW |
1 |
30,868,923 (GRCm39) |
critical splice donor site |
probably null |
|
R9803:Phf3
|
UTSW |
1 |
30,869,872 (GRCm39) |
missense |
probably benign |
0.16 |
Z1177:Phf3
|
UTSW |
1 |
30,851,049 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Phf3
|
UTSW |
1 |
30,844,132 (GRCm39) |
missense |
unknown |
|
Z1177:Phf3
|
UTSW |
1 |
30,843,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCATTTATCCAGGGTTGGTAAGG -3'
(R):5'- TGACCATCCAGTCAGTGAGC -3'
Sequencing Primer
(F):5'- TTAGAAAGTTCTCACAGATCCCAATC -3'
(R):5'- CATCCAGTCAGTGAGCATCTTAAGG -3'
|
Posted On |
2022-08-09 |