Incidental Mutation 'R6775:Phf11b'
ID |
532340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf11b
|
Ensembl Gene |
ENSMUSG00000091649 |
Gene Name |
PHD finger protein 11B |
Synonyms |
Gm4902 |
MMRRC Submission |
044891-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R6775 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
59558413-59578800 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59576094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 47
(N47K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166121]
|
AlphaFold |
B4XVQ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166121
AA Change: N47K
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127857 Gene: ENSMUSG00000091649 AA Change: N47K
Domain | Start | End | E-Value | Type |
PHD
|
92 |
143 |
1.55e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
G |
A |
13: 104,450,160 (GRCm39) |
V289M |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,113,040 (GRCm39) |
D862G |
possibly damaging |
Het |
Ccn6 |
T |
C |
10: 39,027,351 (GRCm39) |
T294A |
probably damaging |
Het |
Colec10 |
A |
G |
15: 54,298,419 (GRCm39) |
E60G |
possibly damaging |
Het |
Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,268,285 (GRCm39) |
D423G |
possibly damaging |
Het |
Ints15 |
C |
A |
5: 143,297,493 (GRCm39) |
V185L |
probably benign |
Het |
Klk1b24 |
A |
G |
7: 43,840,889 (GRCm39) |
M106V |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,357 (GRCm39) |
E231G |
probably benign |
Het |
Or7g30 |
A |
T |
9: 19,352,718 (GRCm39) |
T170S |
possibly damaging |
Het |
Or8k40 |
G |
A |
2: 86,584,921 (GRCm39) |
R54C |
probably damaging |
Het |
Orc1 |
T |
A |
4: 108,460,652 (GRCm39) |
F496I |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Plscr4 |
G |
A |
9: 92,364,858 (GRCm39) |
M94I |
probably benign |
Het |
Ppip5k2 |
A |
T |
1: 97,647,585 (GRCm39) |
V1047E |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,352,159 (GRCm39) |
Y384H |
possibly damaging |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Smc1b |
T |
C |
15: 84,973,881 (GRCm39) |
E925G |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 42,003,748 (GRCm39) |
Y183H |
possibly damaging |
Het |
Tarbp1 |
A |
C |
8: 127,163,568 (GRCm39) |
D1151E |
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,183,039 (GRCm39) |
H220R |
possibly damaging |
Het |
Wdr5 |
A |
G |
2: 27,423,386 (GRCm39) |
Y260C |
probably damaging |
Het |
|
Other mutations in Phf11b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00560:Phf11b
|
APN |
14 |
59,562,324 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01116:Phf11b
|
APN |
14 |
59,560,631 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01446:Phf11b
|
APN |
14 |
59,578,740 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02224:Phf11b
|
APN |
14 |
59,563,515 (GRCm39) |
splice site |
probably benign |
|
IGL03062:Phf11b
|
APN |
14 |
59,562,373 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Phf11b
|
UTSW |
14 |
59,560,611 (GRCm39) |
splice site |
probably benign |
|
R1795:Phf11b
|
UTSW |
14 |
59,565,554 (GRCm39) |
missense |
probably benign |
0.00 |
R3774:Phf11b
|
UTSW |
14 |
59,563,506 (GRCm39) |
missense |
probably benign |
0.45 |
R4553:Phf11b
|
UTSW |
14 |
59,578,734 (GRCm39) |
missense |
probably benign |
0.10 |
R5460:Phf11b
|
UTSW |
14 |
59,568,713 (GRCm39) |
missense |
probably benign |
0.01 |
R5620:Phf11b
|
UTSW |
14 |
59,558,953 (GRCm39) |
missense |
probably benign |
0.01 |
R5985:Phf11b
|
UTSW |
14 |
59,559,027 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5990:Phf11b
|
UTSW |
14 |
59,562,375 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6836:Phf11b
|
UTSW |
14 |
59,565,572 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7197:Phf11b
|
UTSW |
14 |
59,563,507 (GRCm39) |
missense |
probably benign |
0.06 |
R7953:Phf11b
|
UTSW |
14 |
59,568,722 (GRCm39) |
missense |
probably benign |
0.35 |
R8043:Phf11b
|
UTSW |
14 |
59,568,722 (GRCm39) |
missense |
probably benign |
0.35 |
R8229:Phf11b
|
UTSW |
14 |
59,568,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R8319:Phf11b
|
UTSW |
14 |
59,576,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R9585:Phf11b
|
UTSW |
14 |
59,568,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTCAAAGGCCCTCTGTGC -3'
(R):5'- TAAGAACAGGGCCTCGTCTG -3'
Sequencing Primer
(F):5'- AAAGGCCCTCTGTGCATGGAC -3'
(R):5'- GGGCCTCGTCTGCTCCTTTAAG -3'
|
Posted On |
2018-08-29 |