Incidental Mutation 'R8425:Phf8-ps'
ID |
653447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf8-ps
|
Ensembl Gene |
ENSMUSG00000023350 |
Gene Name |
PHD finger protein 8, pseudogene |
Synonyms |
4921501E09Rik |
MMRRC Submission |
067819-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R8425 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 33286038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 255
(A255S)
|
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: A255S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000024121 Gene: ENSMUSG00000023350 AA Change: A255S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
C |
6: 124,324,745 (GRCm39) |
E92G |
possibly damaging |
Het |
Aasdh |
A |
T |
5: 77,034,124 (GRCm39) |
Y476N |
possibly damaging |
Het |
Abca13 |
G |
T |
11: 9,264,623 (GRCm39) |
V3002F |
possibly damaging |
Het |
Adam23 |
C |
T |
1: 63,624,536 (GRCm39) |
T788I |
probably damaging |
Het |
Adgrb2 |
A |
G |
4: 129,898,850 (GRCm39) |
T282A |
possibly damaging |
Het |
Adgrg1 |
T |
C |
8: 95,735,035 (GRCm39) |
Y402H |
probably damaging |
Het |
Agpat2 |
A |
T |
2: 26,483,666 (GRCm39) |
L257Q |
probably benign |
Het |
Agpat3 |
A |
T |
10: 78,118,211 (GRCm39) |
V255E |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,933,404 (GRCm39) |
I299V |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,511,788 (GRCm39) |
F468L |
probably damaging |
Het |
Apob |
T |
A |
12: 8,038,842 (GRCm39) |
N431K |
possibly damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,851 (GRCm39) |
D232E |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,811,921 (GRCm39) |
Y258C |
probably damaging |
Het |
Bach2 |
C |
T |
4: 32,562,316 (GRCm39) |
P261L |
probably benign |
Het |
Cap2 |
T |
A |
13: 46,763,208 (GRCm39) |
I146K |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,569,028 (GRCm39) |
Q900L |
probably benign |
Het |
Ccdc187 |
A |
T |
2: 26,171,548 (GRCm39) |
V310D |
probably damaging |
Het |
Cenpe |
G |
T |
3: 134,948,388 (GRCm39) |
G1275* |
probably null |
Het |
Chd8 |
C |
T |
14: 52,448,012 (GRCm39) |
G1663D |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,823,156 (GRCm39) |
Y67F |
unknown |
Het |
Cuzd1 |
G |
T |
7: 130,919,720 (GRCm39) |
T132K |
possibly damaging |
Het |
Ddr2 |
T |
A |
1: 169,863,585 (GRCm39) |
|
probably benign |
Het |
Ddx42 |
T |
C |
11: 106,138,550 (GRCm39) |
I783T |
probably benign |
Het |
Dennd4a |
T |
A |
9: 64,746,256 (GRCm39) |
D47E |
probably damaging |
Het |
Dvl2 |
T |
G |
11: 69,898,673 (GRCm39) |
W379G |
probably damaging |
Het |
Ehbp1 |
A |
G |
11: 21,963,495 (GRCm39) |
L1160P |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,705,008 (GRCm39) |
V1512A |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,595,580 (GRCm39) |
S780P |
probably damaging |
Het |
Exo5 |
G |
A |
4: 120,779,560 (GRCm39) |
L102F |
probably benign |
Het |
Fam220a |
A |
T |
5: 143,548,594 (GRCm39) |
K2M |
possibly damaging |
Het |
Fanci |
A |
T |
7: 79,083,289 (GRCm39) |
I731L |
probably benign |
Het |
Gbp8 |
A |
G |
5: 105,165,640 (GRCm39) |
S338P |
probably damaging |
Het |
H2-M11 |
T |
C |
17: 36,859,649 (GRCm39) |
I214T |
probably benign |
Het |
Hhatl |
C |
A |
9: 121,618,168 (GRCm39) |
A196S |
probably benign |
Het |
Hspg2 |
C |
A |
4: 137,278,178 (GRCm39) |
C2988* |
probably null |
Het |
Ifi213 |
A |
G |
1: 173,417,426 (GRCm39) |
S329P |
probably benign |
Het |
Lingo3 |
G |
T |
10: 80,670,816 (GRCm39) |
F371L |
probably benign |
Het |
Maml2 |
C |
T |
9: 13,531,413 (GRCm39) |
T209I |
|
Het |
Ndufaf3 |
T |
C |
9: 108,444,182 (GRCm39) |
|
probably benign |
Het |
Nfatc2 |
C |
T |
2: 168,378,216 (GRCm39) |
G483E |
probably damaging |
Het |
Npy6r |
A |
C |
18: 44,409,070 (GRCm39) |
T164P |
probably benign |
Het |
Omg |
T |
C |
11: 79,392,826 (GRCm39) |
E344G |
possibly damaging |
Het |
Or2g25 |
T |
A |
17: 37,970,975 (GRCm39) |
N83I |
probably damaging |
Het |
Or2h15 |
T |
C |
17: 38,441,927 (GRCm39) |
D52G |
possibly damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,737 (GRCm39) |
N40Y |
probably damaging |
Het |
Or52n20 |
A |
G |
7: 104,320,502 (GRCm39) |
N198D |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,966 (GRCm39) |
M81T |
probably benign |
Het |
Or9i1 |
T |
C |
19: 13,839,849 (GRCm39) |
S231P |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,808,521 (GRCm39) |
E301G |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,437,911 (GRCm39) |
S3569P |
probably benign |
Het |
Pkn3 |
G |
A |
2: 29,976,513 (GRCm39) |
|
probably null |
Het |
Proc |
C |
T |
18: 32,256,411 (GRCm39) |
V419M |
probably damaging |
Het |
Prss37 |
C |
T |
6: 40,493,052 (GRCm39) |
W138* |
probably null |
Het |
Prss52 |
T |
A |
14: 64,350,009 (GRCm39) |
L212* |
probably null |
Het |
Rnps1 |
A |
G |
17: 24,637,143 (GRCm39) |
K8E |
unknown |
Het |
Rpf2 |
A |
T |
10: 40,101,429 (GRCm39) |
L202* |
probably null |
Het |
Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
Serpinb5 |
T |
A |
1: 106,809,515 (GRCm39) |
M307K |
possibly damaging |
Het |
Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
Slc49a4 |
A |
T |
16: 35,555,967 (GRCm39) |
N164K |
probably benign |
Het |
Slfn8 |
T |
A |
11: 82,895,441 (GRCm39) |
Q455L |
possibly damaging |
Het |
Sv2b |
A |
G |
7: 74,767,347 (GRCm39) |
M683T |
probably damaging |
Het |
Tacc3 |
G |
T |
5: 33,821,874 (GRCm39) |
L211F |
unknown |
Het |
Tbc1d8 |
A |
G |
1: 39,420,490 (GRCm39) |
V681A |
probably damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,029,677 (GRCm39) |
E493G |
unknown |
Het |
Th |
A |
T |
7: 142,447,823 (GRCm39) |
V420E |
possibly damaging |
Het |
Tmem132c |
T |
G |
5: 127,641,421 (GRCm39) |
V115G |
|
Het |
Usp40 |
G |
A |
1: 87,887,558 (GRCm39) |
R915C |
probably benign |
Het |
Wdr81 |
T |
A |
11: 75,342,348 (GRCm39) |
H973L |
possibly damaging |
Het |
Zdhhc6 |
A |
G |
19: 55,302,876 (GRCm39) |
S42P |
probably benign |
Het |
Zfp369 |
T |
A |
13: 65,444,489 (GRCm39) |
I544N |
possibly damaging |
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 |
|
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 |
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'- AAAGTGTCTGTCCTTGCTTCAC -3'
(R):5'- CTAGCAGCAAGATGATGTTGGG -3'
Sequencing Primer
(F):5'- GCTTCACAGAACACTTGTAACATCTG -3'
(R):5'- GGAATTCTCTAATACTGGGCTTTC -3'
|
Posted On |
2020-10-20 |