Incidental Mutation 'R7265:Phf8-ps'
ID |
564899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf8-ps
|
Ensembl Gene |
ENSMUSG00000023350 |
Gene Name |
PHD finger protein 8, pseudogene |
Synonyms |
4921501E09Rik |
MMRRC Submission |
045355-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R7265 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33285971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 277
(T277I)
|
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: T277I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000024121 Gene: ENSMUSG00000023350 AA Change: T277I
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb3 |
A |
G |
11: 30,948,495 (GRCm39) |
E57G |
probably benign |
Het |
B3glct |
A |
G |
5: 149,632,785 (GRCm39) |
D45G |
probably benign |
Het |
BC034090 |
C |
A |
1: 155,101,073 (GRCm39) |
C397F |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,415,374 (GRCm39) |
K696E |
probably damaging |
Het |
Btnl4 |
C |
T |
17: 34,694,868 (GRCm39) |
C15Y |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,557,257 (GRCm39) |
N300S |
|
Het |
Chia1 |
T |
A |
3: 106,036,239 (GRCm39) |
L273Q |
probably damaging |
Het |
Coq2 |
A |
G |
5: 100,808,136 (GRCm39) |
S222P |
possibly damaging |
Het |
Dgkb |
T |
C |
12: 38,234,931 (GRCm39) |
V432A |
possibly damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,797 (GRCm39) |
F92S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,496,975 (GRCm39) |
V813A |
possibly damaging |
Het |
Emcn |
T |
C |
3: 137,122,839 (GRCm39) |
S183P |
probably damaging |
Het |
Emcn |
T |
A |
3: 137,124,837 (GRCm39) |
W217R |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,773,429 (GRCm39) |
|
probably null |
Het |
Epb41 |
T |
C |
4: 131,695,145 (GRCm39) |
E14G |
unknown |
Het |
Fhip1b |
G |
T |
7: 105,033,432 (GRCm39) |
R609S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,873,608 (GRCm39) |
R225G |
probably damaging |
Het |
Insl6 |
A |
T |
19: 29,298,945 (GRCm39) |
W156R |
possibly damaging |
Het |
Ints3 |
A |
T |
3: 90,311,290 (GRCm39) |
|
probably null |
Het |
Jarid2 |
G |
A |
13: 45,055,748 (GRCm39) |
G318D |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,556,650 (GRCm39) |
L596H |
probably damaging |
Het |
Lctl |
T |
A |
9: 64,034,203 (GRCm39) |
Y281N |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,935,992 (GRCm39) |
C34S |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,148,644 (GRCm39) |
S475P |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,389,767 (GRCm39) |
D1886V |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,301,670 (GRCm39) |
I944K |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mecom |
C |
A |
3: 30,034,282 (GRCm39) |
A465S |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,567,768 (GRCm39) |
S1584P |
unknown |
Het |
Mycbp2 |
A |
G |
14: 103,434,679 (GRCm39) |
|
probably null |
Het |
Myo18b |
G |
A |
5: 112,959,938 (GRCm39) |
R1372W |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,560,616 (GRCm39) |
I706T |
possibly damaging |
Het |
Myo1g |
T |
C |
11: 6,460,933 (GRCm39) |
T704A |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,419,556 (GRCm39) |
K914E |
probably benign |
Het |
Or5ac20 |
T |
A |
16: 59,104,287 (GRCm39) |
D191V |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,227 (GRCm39) |
I77L |
possibly damaging |
Het |
Or8k23 |
C |
T |
2: 86,186,088 (GRCm39) |
V213I |
probably benign |
Het |
Otub2 |
C |
T |
12: 103,366,480 (GRCm39) |
S99L |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,943,105 (GRCm39) |
S345L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,638,616 (GRCm39) |
I381F |
possibly damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,969 (GRCm39) |
T659A |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,987,321 (GRCm39) |
K533N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,402 (GRCm39) |
Q933L |
|
Het |
Ppp4r3a |
A |
T |
12: 101,019,770 (GRCm39) |
M395K |
possibly damaging |
Het |
Pramel11 |
C |
A |
4: 143,621,991 (GRCm39) |
V455L |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,336,481 (GRCm39) |
T107A |
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,227,900 (GRCm39) |
D376E |
unknown |
Het |
Scn11a |
C |
A |
9: 119,644,331 (GRCm39) |
C143F |
probably damaging |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Sec13 |
A |
T |
6: 113,712,097 (GRCm39) |
Y79* |
probably null |
Het |
Sez6 |
T |
A |
11: 77,853,691 (GRCm39) |
I287N |
probably damaging |
Het |
Slc52a3 |
T |
A |
2: 151,846,336 (GRCm39) |
I99K |
possibly damaging |
Het |
Slco4c1 |
T |
G |
1: 96,799,518 (GRCm39) |
H106P |
probably damaging |
Het |
Tada2b |
A |
G |
5: 36,633,952 (GRCm39) |
Y209H |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,963 (GRCm39) |
D796E |
probably benign |
Het |
Tdrd12 |
A |
T |
7: 35,187,147 (GRCm39) |
M581K |
|
Het |
Thnsl1 |
A |
G |
2: 21,217,269 (GRCm39) |
E341G |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,075,070 (GRCm39) |
R11* |
probably null |
Het |
Tmco6 |
T |
C |
18: 36,872,396 (GRCm39) |
|
probably null |
Het |
Trmt44 |
A |
T |
5: 35,721,647 (GRCm39) |
H505Q |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,590,328 (GRCm39) |
M710V |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,040,517 (GRCm39) |
E858G |
possibly damaging |
Het |
Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,464,195 (GRCm39) |
N213S |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,655,776 (GRCm39) |
V662I |
|
Het |
Zfp414 |
C |
A |
17: 33,850,253 (GRCm39) |
D217E |
probably benign |
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 |
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'- CACAGATGCTTCTCAATCTCATAGAC -3'
(R):5'- TATGGCCAGAAGATTGCGGC -3'
Sequencing Primer
(F):5'- AACTGTGTAAGAAGTTTCCCCC -3'
(R):5'- CGGCTTTGAGAGACCCAATGTAC -3'
|
Posted On |
2019-06-26 |