Incidental Mutation 'R1881:Phf8-ps'
| ID |
209150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf8-ps
|
| Ensembl Gene |
ENSMUSG00000023350 |
| Gene Name |
PHD finger protein 8, pseudogene |
| Synonyms |
4921501E09Rik |
| MMRRC Submission |
039902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R1881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33283117-33286999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33284258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 848
(D848V)
|
| 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: D848V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: D848V
| 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 |
0.2379 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.3%
|
| Validation Efficiency |
96% (71/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,161,213 (GRCm39) |
Y1026* |
probably null |
Het |
| Acaca |
T |
G |
11: 84,191,297 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,678,503 (GRCm39) |
M483I |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,904,078 (GRCm39) |
G735S |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,100,173 (GRCm39) |
T2612A |
probably benign |
Het |
| Armc1 |
A |
T |
3: 19,189,060 (GRCm39) |
S202T |
possibly damaging |
Het |
| Arsj |
T |
C |
3: 126,232,486 (GRCm39) |
S411P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,888,862 (GRCm39) |
V247A |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,562,842 (GRCm39) |
D935G |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,898,170 (GRCm39) |
V1626F |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,535,266 (GRCm39) |
R255S |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,196,656 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cstf3 |
A |
T |
2: 104,484,563 (GRCm39) |
M396L |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 31,005,227 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
A |
T |
17: 46,962,888 (GRCm39) |
Y173F |
probably damaging |
Het |
| Dach1 |
A |
T |
14: 98,138,832 (GRCm39) |
M537K |
probably benign |
Het |
| Ddhd2 |
T |
C |
8: 26,217,727 (GRCm39) |
I717V |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,213,742 (GRCm39) |
V475I |
probably damaging |
Het |
| Dnm3 |
C |
T |
1: 162,305,517 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,405,597 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
A |
T |
16: 36,620,941 (GRCm39) |
|
probably benign |
Het |
| En1 |
T |
A |
1: 120,530,904 (GRCm39) |
V48E |
unknown |
Het |
| Eral1 |
T |
A |
11: 77,966,875 (GRCm39) |
H180L |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,401,511 (GRCm39) |
C2760S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Ifnl2 |
T |
A |
7: 28,209,112 (GRCm39) |
R68W |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,990 (GRCm39) |
G7S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,752,868 (GRCm39) |
E52* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,891,446 (GRCm39) |
I189V |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,688,420 (GRCm39) |
Q619L |
probably damaging |
Het |
| Or14a257 |
T |
C |
7: 86,138,646 (GRCm39) |
M38V |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,179,492 (GRCm39) |
T7S |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,536,472 (GRCm39) |
I98T |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,850,876 (GRCm39) |
T161A |
probably benign |
Het |
| Pigs |
T |
C |
11: 78,232,582 (GRCm39) |
V472A |
probably benign |
Het |
| Plek |
A |
T |
11: 16,940,111 (GRCm39) |
N176K |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,535,239 (GRCm39) |
N168S |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,033,336 (GRCm39) |
S716T |
probably damaging |
Het |
| Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,557,408 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
T |
5: 31,194,155 (GRCm39) |
L634Q |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,202 (GRCm39) |
I235V |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,004,167 (GRCm39) |
L407Q |
probably damaging |
Het |
| Spata32 |
T |
C |
11: 103,101,561 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,723,783 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,744,130 (GRCm39) |
V726A |
probably benign |
Het |
| Tmed7 |
A |
T |
18: 46,721,622 (GRCm39) |
|
probably null |
Het |
| Tmem161a |
G |
A |
8: 70,633,435 (GRCm39) |
G94S |
probably null |
Het |
| Tmem81 |
T |
A |
1: 132,435,948 (GRCm39) |
|
probably benign |
Het |
| Trim63 |
C |
A |
4: 134,043,702 (GRCm39) |
A55E |
probably damaging |
Het |
| Trmt1 |
A |
C |
8: 85,415,896 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,079 (GRCm39) |
S1023P |
possibly damaging |
Het |
| Upk3bl |
G |
A |
5: 136,086,157 (GRCm39) |
R31Q |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,921,993 (GRCm39) |
D290G |
probably benign |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
| Vmn1r26 |
T |
A |
6: 57,985,650 (GRCm39) |
T180S |
probably benign |
Het |
| Wdr48 |
G |
T |
9: 119,738,606 (GRCm39) |
V89L |
probably benign |
Het |
| Wdr6 |
G |
T |
9: 108,450,378 (GRCm39) |
|
probably null |
Het |
| Zfp345 |
A |
G |
2: 150,314,275 (GRCm39) |
Y421H |
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 |
|
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 |
|
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'- TTCCTGGACTAGTGAGAGTGAGC -3'
(R):5'- AGTCCTGTTTCTCGGCGTAC -3'
Sequencing Primer
(F):5'- AGAGTGAGCTTCATGTTGTTCACC -3'
(R):5'- TCGGCGTACCCCAAGGAAATG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation