Incidental Mutation 'R7797:Phf8-ps'
ID |
600317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf8-ps
|
Ensembl Gene |
ENSMUSG00000023350 |
Gene Name |
PHD finger protein 8, pseudogene |
Synonyms |
4921501E09Rik |
MMRRC Submission |
045853-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R7797 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33286664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 46
(D46G)
|
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: D46G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024121 Gene: ENSMUSG00000023350 AA Change: D46G
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 |
|
Meta Mutation Damage Score |
0.6918 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,862,509 (GRCm39) |
|
probably null |
Het |
Adam3 |
T |
G |
8: 25,184,660 (GRCm39) |
N535T |
probably damaging |
Het |
Adam34l |
T |
A |
8: 44,079,411 (GRCm39) |
E271V |
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,085,387 (GRCm39) |
K679E |
probably damaging |
Het |
Arnt |
G |
A |
3: 95,387,572 (GRCm39) |
|
probably null |
Het |
Asah2 |
A |
G |
19: 31,999,761 (GRCm39) |
F321L |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,562,505 (GRCm39) |
S156P |
probably damaging |
Het |
Baiap2l1 |
A |
C |
5: 144,255,760 (GRCm39) |
S65A |
probably damaging |
Het |
Bend7 |
T |
G |
2: 4,754,455 (GRCm39) |
M186R |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,948,232 (GRCm39) |
K146E |
possibly damaging |
Het |
Cd19 |
A |
G |
7: 126,012,680 (GRCm39) |
W238R |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,679,079 (GRCm39) |
N241I |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,220,973 (GRCm39) |
E1257G |
probably benign |
Het |
Cfap300 |
G |
T |
9: 8,027,130 (GRCm39) |
P136Q |
possibly damaging |
Het |
Cntnap5c |
T |
C |
17: 58,666,270 (GRCm39) |
V1100A |
probably benign |
Het |
Cul7 |
T |
C |
17: 46,969,568 (GRCm39) |
V945A |
possibly damaging |
Het |
Dock2 |
C |
T |
11: 34,232,652 (GRCm39) |
C1116Y |
probably damaging |
Het |
Ehbp1 |
T |
C |
11: 22,046,109 (GRCm39) |
M547V |
possibly damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Grhl3 |
C |
G |
4: 135,286,416 (GRCm39) |
K88N |
possibly damaging |
Het |
Hbb-y |
T |
A |
7: 103,501,088 (GRCm39) |
Y146F |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,847 (GRCm39) |
V815A |
probably benign |
Het |
Hoxa7 |
T |
A |
6: 52,192,870 (GRCm39) |
I173F |
probably damaging |
Het |
Igkv1-110 |
T |
G |
6: 68,247,977 (GRCm39) |
S29A |
probably benign |
Het |
Jade2 |
A |
G |
11: 51,708,126 (GRCm39) |
S696P |
probably benign |
Het |
Kif1b |
T |
A |
4: 149,321,844 (GRCm39) |
Q1025L |
probably benign |
Het |
Kif2c |
A |
T |
4: 117,028,940 (GRCm39) |
C241S |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,762,287 (GRCm39) |
H400N |
probably benign |
Het |
Krt35 |
T |
A |
11: 99,985,713 (GRCm39) |
N174Y |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,958,618 (GRCm39) |
V489A |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,241 (GRCm39) |
E739G |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,061,814 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,034,022 (GRCm39) |
R607H |
probably damaging |
Het |
Met |
T |
A |
6: 17,533,952 (GRCm39) |
N634K |
probably damaging |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Mmp11 |
G |
T |
10: 75,759,314 (GRCm39) |
T107K |
|
Het |
Mroh2b |
A |
C |
15: 4,978,587 (GRCm39) |
N1378H |
probably benign |
Het |
Naa15 |
G |
A |
3: 51,356,031 (GRCm39) |
C322Y |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,580,986 (GRCm39) |
Y87F |
probably damaging |
Het |
Ngrn |
A |
G |
7: 79,914,185 (GRCm39) |
D112G |
probably benign |
Het |
Osbpl1a |
C |
A |
18: 13,015,321 (GRCm39) |
C369F |
probably damaging |
Het |
Pcnx2 |
G |
C |
8: 126,512,087 (GRCm39) |
D1406E |
possibly damaging |
Het |
Pold1 |
G |
A |
7: 44,191,213 (GRCm39) |
P206L |
probably benign |
Het |
Psen1 |
A |
G |
12: 83,746,396 (GRCm39) |
S20G |
probably benign |
Het |
Ptpn23 |
C |
T |
9: 110,222,875 (GRCm39) |
D61N |
possibly damaging |
Het |
Rbfox3 |
A |
T |
11: 118,387,310 (GRCm39) |
L268Q |
possibly damaging |
Het |
Rbm22 |
A |
G |
18: 60,694,344 (GRCm39) |
T26A |
probably damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,371,277 (GRCm39) |
R332Q |
possibly damaging |
Het |
Rrm2b |
A |
T |
15: 37,927,505 (GRCm39) |
L347* |
probably null |
Het |
Rsf1 |
A |
T |
7: 97,310,692 (GRCm39) |
D474V |
|
Het |
Ryr2 |
C |
T |
13: 11,816,066 (GRCm39) |
R640Q |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,389,245 (GRCm39) |
E691G |
unknown |
Het |
Septin1 |
A |
T |
7: 126,813,937 (GRCm39) |
V365E |
unknown |
Het |
Tlk2 |
A |
G |
11: 105,101,444 (GRCm39) |
H114R |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,864 (GRCm39) |
I135T |
possibly damaging |
Het |
Tpst2 |
T |
A |
5: 112,455,782 (GRCm39) |
V107E |
probably damaging |
Het |
Trim30a |
A |
T |
7: 104,060,407 (GRCm39) |
D456E |
possibly damaging |
Het |
Ttll3 |
T |
C |
6: 113,371,738 (GRCm39) |
V45A |
possibly damaging |
Het |
Ulk2 |
A |
G |
11: 61,672,928 (GRCm39) |
Y889H |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,178,125 (GRCm39) |
S34G |
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,180,903 (GRCm39) |
I56V |
probably benign |
Het |
Vmn2r120 |
C |
T |
17: 57,815,874 (GRCm39) |
G827E |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,555 (GRCm39) |
|
probably null |
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 |
IGL02070:Phf8-ps
|
APN |
17 |
33,285,104 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGGCTTCAAAATCACTTTGTC -3'
(R):5'- ATCCATCATCAACAAGGGAGGG -3'
Sequencing Primer
(F):5'- GGCTTCAAAATCACTTTGTCAGAGC -3'
(R):5'- AACAAGGGAGGGTGTTGTTCTCAC -3'
|
Posted On |
2019-11-26 |