Incidental Mutation 'R0225:Phf3'
ID |
33824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf3
|
Ensembl Gene |
ENSMUSG00000048874 |
Gene Name |
PHD finger protein 3 |
Synonyms |
AU020177, 2310061N19Rik |
MMRRC Submission |
038470-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,584 (GRCm39) |
R105Q |
probably damaging |
Het |
Arhgap23 |
G |
T |
11: 97,335,154 (GRCm39) |
V70L |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
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 |
Col18a1 |
T |
C |
10: 76,924,748 (GRCm39) |
S14G |
possibly damaging |
Het |
Col5a2 |
A |
G |
1: 45,446,195 (GRCm39) |
I461T |
probably benign |
Het |
Dele1 |
G |
A |
18: 38,394,317 (GRCm39) |
V505I |
probably benign |
Het |
Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,331,330 (GRCm39) |
N736S |
probably damaging |
Het |
F11 |
T |
C |
8: 45,702,114 (GRCm39) |
T267A |
probably benign |
Het |
Fam234b |
T |
G |
6: 135,194,072 (GRCm39) |
S242A |
possibly damaging |
Het |
Gadd45b |
A |
G |
10: 80,766,181 (GRCm39) |
N11S |
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 |
Gm10647 |
A |
G |
9: 66,705,777 (GRCm39) |
|
probably benign |
Het |
Gm10936 |
G |
A |
10: 117,084,035 (GRCm39) |
|
noncoding transcript |
Het |
Gzmd |
A |
G |
14: 56,367,161 (GRCm39) |
W244R |
probably damaging |
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 |
Ighv15-2 |
T |
G |
12: 114,528,657 (GRCm39) |
|
probably benign |
Het |
Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
Itgae |
A |
C |
11: 73,002,168 (GRCm39) |
M91L |
probably benign |
Het |
Jkampl |
A |
G |
6: 73,446,402 (GRCm39) |
L49P |
possibly damaging |
Het |
Kat2b |
A |
G |
17: 53,948,238 (GRCm39) |
E336G |
probably damaging |
Het |
Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
Kif23 |
C |
G |
9: 61,832,976 (GRCm39) |
|
probably benign |
Het |
Lgi3 |
A |
T |
14: 70,770,261 (GRCm39) |
I109L |
probably benign |
Het |
Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
Lipo4 |
A |
G |
19: 33,479,006 (GRCm39) |
V278A |
probably benign |
Het |
Lrch3 |
T |
A |
16: 32,782,124 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
Map9 |
G |
A |
3: 82,267,290 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,218,657 (GRCm39) |
|
probably benign |
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 |
Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
Or4k5 |
T |
G |
14: 50,386,092 (GRCm39) |
K80Q |
probably damaging |
Het |
Or8d1b |
A |
G |
9: 38,887,574 (GRCm39) |
I201V |
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 |
Prickle1 |
A |
G |
15: 93,408,658 (GRCm39) |
L47P |
possibly damaging |
Het |
Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 79,011,412 (GRCm39) |
S224R |
probably damaging |
Het |
Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
Siglecg |
G |
A |
7: 43,060,595 (GRCm39) |
G325D |
probably damaging |
Het |
Skor2 |
A |
T |
18: 76,946,793 (GRCm39) |
I172F |
unknown |
Het |
Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
St14 |
T |
A |
9: 31,019,580 (GRCm39) |
|
probably null |
Het |
Tas2r120 |
T |
A |
6: 132,634,552 (GRCm39) |
Y211* |
probably null |
Het |
Tbxa2r |
C |
A |
10: 81,168,734 (GRCm39) |
T141K |
possibly damaging |
Het |
Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
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 |
Tyms |
A |
G |
5: 30,268,256 (GRCm39) |
I148T |
probably damaging |
Het |
Vmn1r45 |
A |
T |
6: 89,910,492 (GRCm39) |
Y159* |
probably null |
Het |
Vmn1r58 |
A |
C |
7: 5,413,865 (GRCm39) |
S122A |
probably benign |
Het |
Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
Wfdc8 |
A |
G |
2: 164,439,105 (GRCm39) |
Y426H |
probably benign |
Het |
Zfp948 |
A |
T |
17: 21,807,556 (GRCm39) |
K249N |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,601,847 (GRCm39) |
|
probably benign |
Het |
Zyg11a |
G |
A |
4: 108,061,838 (GRCm39) |
T321I |
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 |
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 |
2013-05-09 |