Incidental Mutation 'R4175:Phaf1'
| ID |
318264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phaf1
|
| Ensembl Gene |
ENSMUSG00000031889 |
| Gene Name |
phagosome assembly factor 1 |
| Synonyms |
D230025D16Rik, Mytho, Lin10 |
| MMRRC Submission |
041013-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R4175 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105951779-105979685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105967763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 218
(L218P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034361
(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
AA Change: L218P
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: L218P
| 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
|
| Meta Mutation Damage Score |
0.5600 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd63 |
T |
C |
2: 118,533,100 (GRCm39) |
M274V |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,860,050 (GRCm39) |
D724V |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,653 (GRCm39) |
N43S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,861 (GRCm39) |
H1280R |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,370,057 (GRCm39) |
V139M |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clmp |
A |
T |
9: 40,682,432 (GRCm39) |
N72I |
probably benign |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,813,520 (GRCm39) |
F506L |
probably benign |
Het |
| Ctbp1 |
A |
G |
5: 33,424,250 (GRCm39) |
S47P |
probably damaging |
Het |
| Dus1l |
G |
A |
11: 120,686,506 (GRCm39) |
R12C |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Epb41l4b |
A |
G |
4: 57,076,556 (GRCm39) |
V326A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,364,294 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
T |
A |
6: 130,654,110 (GRCm39) |
T451S |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,510,267 (GRCm39) |
M141L |
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,290,937 (GRCm39) |
S377P |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,596,092 (GRCm39) |
L822P |
probably damaging |
Het |
| Kcnip2 |
G |
C |
19: 45,800,654 (GRCm39) |
T24S |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,178,765 (GRCm39) |
Y469H |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,410,676 (GRCm39) |
C77Y |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,467,236 (GRCm39) |
T271A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,128,020 (GRCm39) |
S118T |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,962 (GRCm39) |
D70E |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,882,027 (GRCm39) |
V39D |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,467,829 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,889 (GRCm39) |
K836E |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,838,240 (GRCm39) |
L272H |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,838,241 (GRCm39) |
L272F |
probably benign |
Het |
| Prrc2b |
G |
GCT |
2: 32,108,820 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
G |
10: 107,547,778 (GRCm39) |
I207L |
probably benign |
Het |
| Rasa2 |
G |
T |
9: 96,442,830 (GRCm39) |
T531K |
probably benign |
Het |
| Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,731,416 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,819,492 (GRCm39) |
G231R |
probably null |
Het |
| Slco3a1 |
T |
A |
7: 73,968,302 (GRCm39) |
N473Y |
probably damaging |
Het |
| Tapt1 |
G |
A |
5: 44,334,447 (GRCm39) |
L515F |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,008,218 (GRCm39) |
I253T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Unc13a |
A |
G |
8: 72,120,368 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,173,970 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,840 (GRCm39) |
T125A |
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 |
|
IGL02162:Phaf1
|
APN |
8 |
105,966,605 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGAACATGAGCTTTGTAC -3'
(R):5'- TGAAGGTACTAGAAGCTCTGCC -3'
Sequencing Primer
(F):5'- GAACATGAGCTTTGTACTAGGCCC -3'
(R):5'- AAGGTACTAGAAGCTCTGCCTTCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation