Incidental Mutation 'R8376:Phf8-ps'
ID |
646709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf8-ps
|
Ensembl Gene |
ENSMUSG00000023350 |
Gene Name |
PHD finger protein 8, pseudogene |
Synonyms |
4921501E09Rik |
MMRRC Submission |
067744-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R8376 (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: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
C |
8: 25,409,936 (GRCm39) |
I173S |
possibly damaging |
Het |
Ahctf1 |
T |
C |
1: 179,610,520 (GRCm39) |
D599G |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
Atp12a |
G |
T |
14: 56,612,083 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
T |
17: 74,896,635 (GRCm39) |
T1027M |
probably benign |
Het |
Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
Brms1l |
C |
A |
12: 55,888,414 (GRCm39) |
N67K |
probably benign |
Het |
Cachd1 |
G |
A |
4: 100,832,073 (GRCm39) |
R745H |
probably damaging |
Het |
Cacnb4 |
G |
A |
2: 52,354,665 (GRCm39) |
Q238* |
probably null |
Het |
Cdc42 |
G |
A |
4: 137,056,205 (GRCm39) |
T102I |
probably benign |
Het |
Cfhr1 |
A |
C |
1: 139,475,549 (GRCm39) |
C307W |
unknown |
Het |
Ddb1 |
G |
A |
19: 10,596,669 (GRCm39) |
V463M |
probably damaging |
Het |
Dhx30 |
G |
A |
9: 109,917,707 (GRCm39) |
R365C |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,023,303 (GRCm39) |
F1005L |
probably damaging |
Het |
Elp4 |
A |
G |
2: 105,672,653 (GRCm39) |
V144A |
probably benign |
Het |
Enpp2 |
T |
A |
15: 54,773,491 (GRCm39) |
N77Y |
probably damaging |
Het |
Fsip1 |
C |
T |
2: 118,063,519 (GRCm39) |
V317I |
possibly damaging |
Het |
Gc |
G |
A |
5: 89,586,118 (GRCm39) |
Q341* |
probably null |
Het |
Gpt2 |
A |
T |
8: 86,219,694 (GRCm39) |
I47F |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,272,968 (GRCm39) |
S503T |
probably benign |
Het |
Kcnn4 |
C |
A |
7: 24,077,051 (GRCm39) |
T200K |
possibly damaging |
Het |
Krtap4-7 |
A |
G |
11: 99,534,753 (GRCm39) |
S37P |
unknown |
Het |
Lrrc4b |
T |
C |
7: 44,112,018 (GRCm39) |
V630A |
probably benign |
Het |
Man2a2 |
C |
T |
7: 80,010,671 (GRCm39) |
W773* |
probably null |
Het |
Mgrn1 |
T |
A |
16: 4,733,630 (GRCm39) |
L192Q |
probably damaging |
Het |
Mtx1 |
A |
G |
3: 89,121,478 (GRCm39) |
V52A |
probably benign |
Het |
Myc |
A |
T |
15: 61,859,395 (GRCm39) |
N24Y |
possibly damaging |
Het |
Nbea |
G |
A |
3: 55,551,076 (GRCm39) |
S2696L |
possibly damaging |
Het |
Nox4 |
A |
G |
7: 87,023,592 (GRCm39) |
N493D |
probably damaging |
Het |
Or52w1 |
C |
A |
7: 105,017,847 (GRCm39) |
P105T |
probably benign |
Het |
Osbpl10 |
G |
A |
9: 115,052,661 (GRCm39) |
G403D |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,518,684 (GRCm39) |
L192Q |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,426,947 (GRCm39) |
I703V |
possibly damaging |
Het |
Pkd1l3 |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
8: 110,350,420 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,944,071 (GRCm39) |
S36P |
probably damaging |
Het |
Plk5 |
T |
C |
10: 80,196,179 (GRCm39) |
F279L |
probably damaging |
Het |
Prl7a1 |
T |
G |
13: 27,821,638 (GRCm39) |
E99D |
probably benign |
Het |
Rnf4 |
C |
T |
5: 34,508,701 (GRCm39) |
R188W |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGAGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Scel |
A |
G |
14: 103,809,451 (GRCm39) |
S264G |
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,144,376 (GRCm39) |
Q1712R |
possibly damaging |
Het |
Slc15a1 |
A |
G |
14: 121,718,115 (GRCm39) |
Y255H |
probably benign |
Het |
Syne1 |
C |
T |
10: 4,993,615 (GRCm39) |
G525D |
probably benign |
Het |
Taldo1 |
T |
C |
7: 140,981,788 (GRCm39) |
V214A |
probably damaging |
Het |
Tbc1d12 |
A |
G |
19: 38,889,853 (GRCm39) |
T428A |
probably damaging |
Het |
Tlr6 |
T |
C |
5: 65,112,455 (GRCm39) |
K151E |
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,253,721 (GRCm39) |
D1468V |
probably benign |
Het |
Ubtf |
A |
C |
11: 102,199,737 (GRCm39) |
Y463D |
probably damaging |
Het |
Uroc1 |
A |
T |
6: 90,314,697 (GRCm39) |
M106L |
probably damaging |
Het |
Vmn1r55 |
T |
A |
7: 5,149,869 (GRCm39) |
I185L |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,525,230 (GRCm39) |
V296D |
probably damaging |
Het |
Zfp65 |
A |
C |
13: 67,857,037 (GRCm39) |
Y81D |
probably damaging |
Het |
Zw10 |
A |
T |
9: 48,988,783 (GRCm39) |
Y683F |
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 |
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'- AGTGTCTGTCCTTGCTTCACAG -3'
(R):5'- GCTAGCAGCAAGATGATGTTG -3'
Sequencing Primer
(F):5'- GAACACTTGTAACATCTGTCTACCTG -3'
(R):5'- GGAATTCTCTAATACTGGGCTTTC -3'
|
Posted On |
2020-09-02 |