Incidental Mutation 'R4761:Phf8-ps'
| ID |
356910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf8-ps
|
| Ensembl Gene |
ENSMUSG00000023350 |
| Gene Name |
PHD finger protein 8, pseudogene |
| Synonyms |
4921501E09Rik |
| MMRRC Submission |
042402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R4761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33286172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 210
(V210D)
|
| 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: V210D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: V210D
| 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 |
0.9152 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,820,165 (GRCm39) |
D195G |
possibly damaging |
Het |
| Abcc8 |
G |
A |
7: 45,762,499 (GRCm39) |
R1221C |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,964,880 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
T |
13: 4,497,010 (GRCm39) |
M98L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,753,916 (GRCm39) |
Q1632R |
probably damaging |
Het |
| Arhgap24 |
G |
T |
5: 102,812,080 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,308,504 (GRCm39) |
*40W |
probably null |
Het |
| Bdkrb2 |
A |
T |
12: 105,554,537 (GRCm39) |
M17L |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,581,158 (GRCm39) |
K117R |
possibly damaging |
Het |
| Cacng3 |
A |
T |
7: 122,367,887 (GRCm39) |
T256S |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,464,240 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
T |
A |
8: 105,563,193 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,564,592 (GRCm39) |
D1696V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,264,860 (GRCm39) |
M296K |
possibly damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,769,875 (GRCm39) |
P476L |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,849 (GRCm39) |
V858A |
possibly damaging |
Het |
| Ermp1 |
T |
A |
19: 29,623,656 (GRCm39) |
E55D |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,373,045 (GRCm39) |
L25F |
probably damaging |
Het |
| Foxn2 |
T |
A |
17: 88,770,136 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
A |
T |
7: 57,415,250 (GRCm39) |
T107S |
probably damaging |
Het |
| Gm26678 |
A |
T |
3: 54,540,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7897 |
G |
T |
1: 173,657,536 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9789 |
A |
T |
16: 88,954,915 (GRCm39) |
Y8F |
unknown |
Het |
| Gsta3 |
A |
T |
1: 21,330,381 (GRCm39) |
T78S |
probably benign |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,474 (GRCm39) |
N178D |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,639,885 (GRCm39) |
V1000I |
probably benign |
Het |
| Hrnr |
A |
C |
3: 93,230,062 (GRCm39) |
K100T |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,756,981 (GRCm39) |
V232A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,760,421 (GRCm39) |
R509L |
probably damaging |
Het |
| Lefty1 |
T |
A |
1: 180,765,190 (GRCm39) |
C253S |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Mfsd9 |
T |
C |
1: 40,813,635 (GRCm39) |
K227E |
possibly damaging |
Het |
| Mrps2 |
C |
G |
2: 28,359,946 (GRCm39) |
H268D |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,548,739 (GRCm39) |
S292T |
probably benign |
Het |
| Ncaph |
T |
C |
2: 126,948,036 (GRCm39) |
D683G |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,514 (GRCm39) |
S632T |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,872 (GRCm39) |
T198A |
possibly damaging |
Het |
| Oasl2 |
C |
T |
5: 115,037,836 (GRCm39) |
H78Y |
probably benign |
Het |
| Or8b54 |
T |
C |
9: 38,687,133 (GRCm39) |
V194A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdgfrb |
C |
A |
18: 61,212,772 (GRCm39) |
S892Y |
probably damaging |
Het |
| Por |
T |
G |
5: 135,754,784 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,640,035 (GRCm39) |
V22D |
possibly damaging |
Het |
| Prcp |
A |
G |
7: 92,566,933 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
A |
T |
11: 121,727,224 (GRCm39) |
N366I |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,890 (GRCm39) |
E4G |
probably damaging |
Het |
| Semp2l1 |
A |
T |
1: 32,585,588 (GRCm39) |
S107R |
possibly damaging |
Het |
| Serpinb6d |
C |
A |
13: 33,855,250 (GRCm39) |
S308Y |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,961,708 (GRCm39) |
V1026A |
probably benign |
Het |
| Slc17a7 |
G |
A |
7: 44,820,408 (GRCm39) |
V313I |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,289,168 (GRCm39) |
M113L |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,729,717 (GRCm39) |
T178A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,653,040 (GRCm39) |
W914R |
probably damaging |
Het |
| Srfbp1 |
C |
A |
18: 52,621,638 (GRCm39) |
P233Q |
probably damaging |
Het |
| Swt1 |
A |
C |
1: 151,276,853 (GRCm39) |
C508G |
probably benign |
Het |
| Tex22 |
T |
C |
12: 113,052,386 (GRCm39) |
V148A |
possibly damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,753 (GRCm39) |
D213V |
probably damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,933 (GRCm39) |
P37L |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,230 (GRCm39) |
Y145C |
probably damaging |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,174 (GRCm39) |
M32L |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,741,630 (GRCm39) |
F114S |
possibly damaging |
Het |
| Xdh |
T |
A |
17: 74,217,262 (GRCm39) |
I669F |
possibly damaging |
Het |
| Zfp940 |
G |
A |
7: 29,545,578 (GRCm39) |
R110C |
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 |
|
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'- CAGGTTAGCATCTGTTGGGC -3'
(R):5'- TCACTGTCAGAGATGTTGAGC -3'
Sequencing Primer
(F):5'- GCGGATCAGATAGAAGATCTTCTCAC -3'
(R):5'- CACTGTCAGAGATGTTGAGCAATATG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation