Incidental Mutation 'R4176:Phaf1'
ID |
319515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phaf1
|
Ensembl Gene |
ENSMUSG00000031889 |
Gene Name |
phagosome assembly factor 1 |
Synonyms |
D230025D16Rik, Mytho, Lin10 |
MMRRC Submission |
041014-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.289)
|
Stock # |
R4176 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
probably benign |
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 |
R4175: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'- GCGAGGAACATGAGCTTTG -3'
(R):5'- TGAAGGTACTAGAAGCTCTGCC -3'
Sequencing Primer
(F):5'- GAACATGAGCTTTGTACTAGGCCC -3'
(R):5'- AAGGTACTAGAAGCTCTGCCTTCTG -3'
|
Posted On |
2015-06-10 |