Incidental Mutation 'R0123:Phf3'
ID |
21137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf3
|
Ensembl Gene |
ENSMUSG00000048874 |
Gene Name |
PHD finger protein 3 |
Synonyms |
AU020177, 2310061N19Rik |
MMRRC Submission |
038408-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0123 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
1 |
Chromosomal Location |
30841417-30912989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30844146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1604
(D1604E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088310]
[ENSMUST00000186733]
[ENSMUST00000191329]
|
AlphaFold |
B2RQG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088310
AA Change: D1604E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000085650 Gene: ENSMUSG00000048874 AA Change: D1604E
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: D1604E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139610 Gene: ENSMUSG00000048874 AA Change: D1604E
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 |
noncoding transcript
Transcript: ENSMUST00000190190
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191329
|
SMART Domains |
Protein: ENSMUSP00000139662 Gene: ENSMUSG00000048874
Domain | Start | End | E-Value | Type |
Pfam:SPOC
|
1 |
88 |
1.9e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.0614 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
Validation Efficiency |
99% (71/72) |
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 |
1110059E24Rik |
T |
C |
19: 21,575,565 (GRCm39) |
|
probably benign |
Het |
Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,584 (GRCm39) |
R105Q |
probably damaging |
Het |
Becn1 |
A |
G |
11: 101,181,324 (GRCm39) |
Y326H |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
Cacna1g |
T |
A |
11: 94,300,302 (GRCm39) |
H2156L |
probably damaging |
Het |
Cd22 |
A |
G |
7: 30,566,533 (GRCm39) |
|
probably benign |
Het |
Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
Chn2 |
T |
C |
6: 54,267,436 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,232,412 (GRCm39) |
L892P |
possibly damaging |
Het |
Col5a2 |
A |
G |
1: 45,446,195 (GRCm39) |
I461T |
probably benign |
Het |
Cts8 |
T |
A |
13: 61,401,391 (GRCm39) |
M75L |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,457,156 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,197,274 (GRCm39) |
M1558V |
probably benign |
Het |
Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
Efcab14 |
T |
C |
4: 115,597,728 (GRCm39) |
F108L |
probably damaging |
Het |
Ell2 |
T |
C |
13: 75,910,259 (GRCm39) |
|
probably benign |
Het |
Fam234b |
T |
G |
6: 135,194,072 (GRCm39) |
S242A |
possibly damaging |
Het |
Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
Gata3 |
T |
C |
2: 9,879,620 (GRCm39) |
T119A |
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
Hira |
T |
A |
16: 18,774,921 (GRCm39) |
F949I |
probably benign |
Het |
Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,446,402 (GRCm39) |
L49P |
possibly damaging |
Het |
Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,514,295 (GRCm39) |
S1215T |
probably benign |
Het |
Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
Lrch3 |
T |
A |
16: 32,782,124 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,326,636 (GRCm39) |
M2835V |
possibly damaging |
Het |
Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
Mug2 |
G |
T |
6: 122,051,673 (GRCm39) |
V952L |
possibly damaging |
Het |
Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
Nlgn1 |
C |
T |
3: 25,490,089 (GRCm39) |
C546Y |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
Nrxn1 |
A |
T |
17: 91,302,915 (GRCm39) |
|
probably null |
Het |
Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
Pnp2 |
T |
C |
14: 51,200,634 (GRCm39) |
F100S |
probably damaging |
Het |
Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
Rxfp1 |
A |
G |
3: 79,564,783 (GRCm39) |
S327P |
probably damaging |
Het |
Siah2 |
A |
G |
3: 58,583,536 (GRCm39) |
V250A |
probably damaging |
Het |
Slc10a7 |
T |
A |
8: 79,423,787 (GRCm39) |
|
probably null |
Het |
Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,548,620 (GRCm39) |
L302P |
probably damaging |
Het |
Tas2r120 |
T |
A |
6: 132,634,552 (GRCm39) |
Y211* |
probably null |
Het |
Tenm3 |
A |
T |
8: 49,127,507 (GRCm39) |
L57Q |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,067,150 (GRCm39) |
V2269I |
possibly damaging |
Het |
Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
Tsfm |
A |
G |
10: 126,858,798 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
Upk1a |
A |
T |
7: 30,311,819 (GRCm39) |
I25N |
possibly damaging |
Het |
Vmn1r45 |
A |
T |
6: 89,910,492 (GRCm39) |
Y159* |
probably null |
Het |
Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
Zfp108 |
A |
G |
7: 23,959,892 (GRCm39) |
H161R |
probably benign |
Het |
Zfp982 |
A |
T |
4: 147,597,093 (GRCm39) |
K150I |
probably benign |
Het |
Zfyve1 |
A |
G |
12: 83,601,847 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
T |
C |
14: 20,766,558 (GRCm39) |
|
probably benign |
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 |
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 |
|
R9594:Phf3
|
UTSW |
1 |
30,869,003 (GRCm39) |
missense |
probably benign |
0.07 |
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'- TGCATCCTTGCTTTCAGAAGCTGTC -3'
(R):5'- AGCAGGCTCAGCCACTTGTAGAAC -3'
Sequencing Primer
(F):5'- TCAGAAGCTGTCTGCTGAC -3'
(R):5'- AGAGACTTCATCGGTAGGTTCATC -3'
|
Posted On |
2013-04-11 |