Incidental Mutation 'IGL02162:Phaf1'
| ID |
282524 |
| 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 # |
IGL02162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105951779-105979685 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 105966605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably benign
Transcript: ENSMUST00000034361
|
| SMART Domains |
Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0183
|
15 |
407 |
1.7e-161 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124113
|
| SMART Domains |
Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0183
|
13 |
120 |
1.9e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132964
|
| SMART Domains |
Protein: ENSMUSP00000123583
Gene: ENSMUSG00000031889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0183
|
1 |
117 |
1.4e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141957
|
| SMART Domains |
Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
T |
C |
14: 44,199,966 (GRCm39) |
L10S |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,177,489 (GRCm39) |
T577A |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,460,564 (GRCm39) |
P297T |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,911,531 (GRCm39) |
|
probably benign |
Het |
| Ctss |
A |
G |
3: 95,454,132 (GRCm39) |
K227R |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,094,230 (GRCm39) |
R2902Q |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,881,810 (GRCm39) |
A2862S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,796,502 (GRCm39) |
|
probably null |
Het |
| Fbxw5 |
C |
A |
2: 25,393,283 (GRCm39) |
Q16K |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,774,660 (GRCm39) |
C78Y |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,076,003 (GRCm39) |
Y688F |
possibly damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,353 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,298,671 (GRCm39) |
H63R |
possibly damaging |
Het |
| Ikbke |
A |
G |
1: 131,201,452 (GRCm39) |
S132P |
possibly damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,153,089 (GRCm39) |
I340T |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,446,163 (GRCm39) |
|
probably benign |
Het |
| Nfkbie |
T |
G |
17: 45,867,242 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
G |
T |
3: 109,842,311 (GRCm39) |
S154* |
probably null |
Het |
| Or6c208 |
C |
T |
10: 129,223,973 (GRCm39) |
P157L |
probably benign |
Het |
| Or8b12b |
A |
G |
9: 37,684,227 (GRCm39) |
I91V |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,179 (GRCm39) |
|
probably benign |
Het |
| Plec |
C |
T |
15: 76,064,360 (GRCm39) |
M1971I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,717,714 (GRCm39) |
F1067I |
probably damaging |
Het |
| Qpctl |
A |
G |
7: 18,878,606 (GRCm39) |
F290L |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,523,970 (GRCm39) |
Y288F |
probably damaging |
Het |
| St8sia3 |
A |
G |
18: 64,398,651 (GRCm39) |
N37D |
probably benign |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,422 (GRCm39) |
D311G |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,688 (GRCm39) |
I33V |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,218,210 (GRCm39) |
F78L |
probably benign |
Het |
| Zfp541 |
C |
A |
7: 15,813,393 (GRCm39) |
T682K |
possibly 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 |
|
IGL02264:Phaf1
|
APN |
8 |
105,961,178 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
Incidental Mutation