Incidental Mutation 'R2424:Phf8-ps'
ID |
249516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf8-ps
|
Ensembl Gene |
ENSMUSG00000023350 |
Gene Name |
PHD finger protein 8, pseudogene |
Synonyms |
4921501E09Rik |
MMRRC Submission |
040386-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R2424 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33284730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 691
(T691A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024121]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024121
AA Change: T691A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000024121 Gene: ENSMUSG00000023350 AA Change: T691A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,590,159 (GRCm39) |
|
probably null |
Het |
Acot3 |
G |
T |
12: 84,100,638 (GRCm39) |
R138L |
probably damaging |
Het |
Ago3 |
A |
G |
4: 126,298,040 (GRCm39) |
V160A |
probably damaging |
Het |
Akap9 |
A |
C |
5: 4,115,279 (GRCm39) |
E166D |
probably damaging |
Het |
Arid5a |
T |
C |
1: 36,357,582 (GRCm39) |
Y136H |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,494,297 (GRCm39) |
V244A |
probably benign |
Het |
Atp10a |
A |
T |
7: 58,444,303 (GRCm39) |
H560L |
probably benign |
Het |
Btbd6 |
A |
G |
12: 112,941,980 (GRCm39) |
T482A |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,770,980 (GRCm39) |
Y1828N |
probably damaging |
Het |
Capzb |
A |
G |
4: 138,921,441 (GRCm39) |
M1V |
probably null |
Het |
Cdh9 |
T |
G |
15: 16,850,440 (GRCm39) |
F524L |
probably damaging |
Het |
Ctnna1 |
T |
C |
18: 35,386,760 (GRCm39) |
S846P |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dock7 |
T |
A |
4: 98,833,544 (GRCm39) |
R1886* |
probably null |
Het |
Dpp3 |
A |
T |
19: 4,957,735 (GRCm39) |
L711* |
probably null |
Het |
Dst |
T |
A |
1: 34,206,141 (GRCm39) |
I566N |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,928,045 (GRCm39) |
S421R |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,011,828 (GRCm39) |
V825A |
probably benign |
Het |
Eya1 |
T |
A |
1: 14,341,072 (GRCm39) |
|
probably benign |
Het |
Fam187a |
T |
C |
11: 102,776,780 (GRCm39) |
Y195H |
probably damaging |
Het |
Fbn2 |
C |
T |
18: 58,336,859 (GRCm39) |
C132Y |
probably damaging |
Het |
Fbxw21 |
A |
T |
9: 108,986,587 (GRCm39) |
Y97* |
probably null |
Het |
Grin1 |
A |
T |
2: 25,208,664 (GRCm39) |
C79S |
probably null |
Het |
Haao |
T |
A |
17: 84,142,991 (GRCm39) |
Y118F |
probably damaging |
Het |
Il11ra1 |
T |
A |
4: 41,768,222 (GRCm39) |
S378T |
probably damaging |
Het |
Kcnj5 |
A |
T |
9: 32,234,116 (GRCm39) |
N66K |
probably damaging |
Het |
Kif21a |
T |
A |
15: 90,855,399 (GRCm39) |
N668I |
probably damaging |
Het |
Kprp |
A |
T |
3: 92,732,912 (GRCm39) |
L46Q |
probably damaging |
Het |
Lama1 |
C |
T |
17: 68,105,660 (GRCm39) |
T2056I |
probably benign |
Het |
Madd |
G |
C |
2: 90,996,967 (GRCm39) |
D824E |
probably damaging |
Het |
Mapk9 |
A |
G |
11: 49,754,499 (GRCm39) |
N84S |
probably damaging |
Het |
Mrpl39 |
A |
G |
16: 84,527,748 (GRCm39) |
V160A |
probably benign |
Het |
Mrpl9 |
T |
C |
3: 94,351,113 (GRCm39) |
S98P |
probably benign |
Het |
Mybpc3 |
A |
T |
2: 90,966,138 (GRCm39) |
M1233L |
probably benign |
Het |
Neb |
A |
G |
2: 52,099,671 (GRCm39) |
|
probably benign |
Het |
Ngly1 |
A |
G |
14: 16,290,721 (GRCm38) |
|
probably null |
Het |
Nt5c1b |
A |
T |
12: 10,420,072 (GRCm39) |
T4S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,885,277 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
T |
C |
17: 37,422,408 (GRCm39) |
I155M |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,281 (GRCm39) |
Y193C |
probably damaging |
Het |
Or8b1b |
T |
C |
9: 38,376,128 (GRCm39) |
S264P |
probably damaging |
Het |
Or8g53 |
A |
G |
9: 39,683,593 (GRCm39) |
F168L |
probably benign |
Het |
Otog |
A |
T |
7: 45,947,593 (GRCm39) |
K64* |
probably null |
Het |
Papola |
A |
G |
12: 105,793,311 (GRCm39) |
T544A |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,297,002 (GRCm39) |
V790A |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,845,430 (GRCm39) |
R1252S |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Rgs17 |
T |
A |
10: 5,783,111 (GRCm39) |
I159F |
probably damaging |
Het |
Rgs17 |
T |
A |
10: 5,792,560 (GRCm39) |
E62V |
probably benign |
Het |
Rnase1 |
A |
G |
14: 51,383,004 (GRCm39) |
Y117H |
possibly damaging |
Het |
Rnf214 |
T |
C |
9: 45,811,096 (GRCm39) |
D189G |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,869,023 (GRCm39) |
N365S |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,446,590 (GRCm39) |
H2480R |
probably benign |
Het |
Slc27a6 |
G |
T |
18: 58,738,189 (GRCm39) |
C415F |
probably benign |
Het |
Stim1 |
A |
G |
7: 102,057,612 (GRCm39) |
I142V |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,014,590 (GRCm39) |
I1070V |
possibly damaging |
Het |
Tbp |
T |
C |
17: 15,733,795 (GRCm39) |
F174L |
possibly damaging |
Het |
Tex26 |
A |
G |
5: 149,393,913 (GRCm39) |
|
probably benign |
Het |
Tmem132d |
A |
G |
5: 127,941,663 (GRCm39) |
V479A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,711,489 (GRCm39) |
|
probably benign |
Het |
Urb2 |
T |
A |
8: 124,757,165 (GRCm39) |
N957K |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,256,310 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
T |
C |
17: 23,515,842 (GRCm39) |
T550A |
possibly damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,400,161 (GRCm39) |
V296A |
probably damaging |
Het |
Vmn2r91 |
C |
A |
17: 18,356,431 (GRCm39) |
Y699* |
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 |
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 |
|
R7797:Phf8-ps
|
UTSW |
17 |
33,286,664 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGTGCCCAAGACACTGCTAG -3'
(R):5'- CGATGGTAGACACATTTGACTTGG -3'
Sequencing Primer
(F):5'- CCAAGACACTGCTAGGGCTTTTG -3'
(R):5'- AAAGTGAGTCTGGTAGTAAGACC -3'
|
Posted On |
2014-11-12 |