Incidental Mutation 'R5255:Phf8-ps'
| ID |
399533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf8-ps
|
| Ensembl Gene |
ENSMUSG00000023350 |
| Gene Name |
PHD finger protein 8, pseudogene |
| Synonyms |
4921501E09Rik |
| MMRRC Submission |
042826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R5255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 33285739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 354
(C354*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024121]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024121
AA Change: C354*
|
| SMART Domains |
Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: C354*
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
| Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
| B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
| Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
| Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
| Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
| Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
| Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
probably 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 |
|
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'- TCTGCACTGTCTTTGGGATC -3'
(R):5'- TTTGGTGACCAGGTAGACAGATG -3'
Sequencing Primer
(F):5'- TCACGGTTAGGCAGAACTTC -3'
(R):5'- CAGGTAGACAGATGTTACAAGTGTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation