Incidental Mutation 'IGL02264:Phaf1'
ID |
286836 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phaf1
|
Ensembl Gene |
ENSMUSG00000031889 |
Gene Name |
phagosome assembly factor 1 |
Synonyms |
D230025D16Rik, Mytho, Lin10 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.289)
|
Stock # |
IGL02264
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105951779-105979685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105961178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 71
(A71V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034361]
[ENSMUST00000124113]
[ENSMUST00000132964]
[ENSMUST00000141957]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034361
AA Change: A71V
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000034361 Gene: ENSMUSG00000031889 AA Change: A71V
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
15 |
407 |
1.7e-161 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124113
AA Change: A71V
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119743 Gene: ENSMUSG00000031889 AA Change: A71V
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
13 |
120 |
1.9e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132964
AA Change: A49V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000123583 Gene: ENSMUSG00000031889 AA Change: A49V
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
1 |
117 |
1.4e-56 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141957
AA Change: A71V
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119148 Gene: ENSMUSG00000031889 AA Change: A71V
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
13 |
161 |
2.8e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156561
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
Abhd17b |
T |
C |
19: 21,655,796 (GRCm39) |
L26P |
probably damaging |
Het |
Abtb1 |
A |
G |
6: 88,813,517 (GRCm39) |
V407A |
probably benign |
Het |
Adamts17 |
C |
A |
7: 66,697,207 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
G |
T |
2: 20,864,850 (GRCm39) |
|
probably null |
Het |
Brwd1 |
T |
C |
16: 95,820,656 (GRCm39) |
D1290G |
probably damaging |
Het |
Btbd6 |
A |
G |
12: 112,940,589 (GRCm39) |
T49A |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,259,699 (GRCm39) |
V702I |
possibly damaging |
Het |
Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
Dclre1a |
T |
A |
19: 56,532,725 (GRCm39) |
N623I |
possibly damaging |
Het |
Dnah9 |
A |
T |
11: 65,971,314 (GRCm39) |
|
probably benign |
Het |
Emc1 |
T |
C |
4: 139,102,775 (GRCm39) |
F978S |
probably damaging |
Het |
Fam185a |
G |
A |
5: 21,685,392 (GRCm39) |
V363I |
possibly damaging |
Het |
Iglc2 |
G |
T |
16: 19,017,397 (GRCm39) |
S69R |
probably damaging |
Het |
Ints5 |
T |
C |
19: 8,873,076 (GRCm39) |
V345A |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,687,569 (GRCm39) |
R2825G |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,137,794 (GRCm39) |
E2870G |
probably damaging |
Het |
Or4c125 |
G |
T |
2: 89,170,028 (GRCm39) |
T206K |
probably benign |
Het |
Or4k41 |
A |
G |
2: 111,280,207 (GRCm39) |
T241A |
probably benign |
Het |
Or5aq7 |
C |
T |
2: 86,937,785 (GRCm39) |
|
probably benign |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Pcsk1 |
C |
A |
13: 75,254,078 (GRCm39) |
T210K |
probably damaging |
Het |
Slco5a1 |
A |
G |
1: 12,942,219 (GRCm39) |
V809A |
probably benign |
Het |
Synm |
T |
C |
7: 67,384,144 (GRCm39) |
T1173A |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,040,584 (GRCm39) |
I367T |
probably damaging |
Het |
Tmem169 |
T |
A |
1: 72,340,114 (GRCm39) |
Y181* |
probably null |
Het |
Trp73 |
G |
T |
4: 154,148,885 (GRCm39) |
F289L |
probably null |
Het |
Ttll9 |
A |
G |
2: 152,842,055 (GRCm39) |
Y303C |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,182,939 (GRCm39) |
E3577* |
probably null |
Het |
Zbtb3 |
T |
G |
19: 8,780,729 (GRCm39) |
V114G |
probably damaging |
Het |
|
Other mutations in Phaf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01935:Phaf1
|
APN |
8 |
105,966,633 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02058:Phaf1
|
APN |
8 |
105,966,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02162:Phaf1
|
APN |
8 |
105,966,605 (GRCm39) |
splice site |
probably benign |
|
IGL02512:Phaf1
|
APN |
8 |
105,961,110 (GRCm39) |
splice site |
probably benign |
|
FR4340:Phaf1
|
UTSW |
8 |
105,967,730 (GRCm39) |
missense |
probably benign |
|
FR4342:Phaf1
|
UTSW |
8 |
105,967,730 (GRCm39) |
missense |
probably benign |
|
FR4589:Phaf1
|
UTSW |
8 |
105,967,730 (GRCm39) |
missense |
probably benign |
|
R0564:Phaf1
|
UTSW |
8 |
105,966,603 (GRCm39) |
splice site |
probably benign |
|
R1458:Phaf1
|
UTSW |
8 |
105,973,188 (GRCm39) |
critical splice donor site |
probably null |
|
R1705:Phaf1
|
UTSW |
8 |
105,965,104 (GRCm39) |
splice site |
probably benign |
|
R1860:Phaf1
|
UTSW |
8 |
105,966,703 (GRCm39) |
missense |
probably null |
1.00 |
R1861:Phaf1
|
UTSW |
8 |
105,966,703 (GRCm39) |
missense |
probably null |
1.00 |
R1893:Phaf1
|
UTSW |
8 |
105,973,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Phaf1
|
UTSW |
8 |
105,973,132 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2246:Phaf1
|
UTSW |
8 |
105,973,132 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3914:Phaf1
|
UTSW |
8 |
105,966,615 (GRCm39) |
missense |
probably benign |
0.00 |
R4175:Phaf1
|
UTSW |
8 |
105,967,763 (GRCm39) |
missense |
probably benign |
0.09 |
R4176:Phaf1
|
UTSW |
8 |
105,967,763 (GRCm39) |
missense |
probably benign |
0.09 |
R4602:Phaf1
|
UTSW |
8 |
105,973,520 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5965:Phaf1
|
UTSW |
8 |
105,961,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R7717:Phaf1
|
UTSW |
8 |
105,978,236 (GRCm39) |
missense |
probably benign |
0.12 |
R7787:Phaf1
|
UTSW |
8 |
105,957,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R7881:Phaf1
|
UTSW |
8 |
105,976,084 (GRCm39) |
missense |
probably benign |
0.21 |
R8168:Phaf1
|
UTSW |
8 |
105,975,401 (GRCm39) |
missense |
probably benign |
0.02 |
R8949:Phaf1
|
UTSW |
8 |
105,976,075 (GRCm39) |
missense |
probably benign |
|
R9183:Phaf1
|
UTSW |
8 |
105,957,840 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Phaf1
|
UTSW |
8 |
105,957,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |