Incidental Mutation 'R1705:Phaf1'
ID |
190021 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phaf1
|
Ensembl Gene |
ENSMUSG00000031889 |
Gene Name |
phagosome assembly factor 1 |
Synonyms |
D230025D16Rik, Mytho, Lin10 |
MMRRC Submission |
039738-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R1705 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105951779-105979685 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 105965104 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
90% (43/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,903,133 (GRCm39) |
|
probably benign |
Het |
C1ql2 |
A |
G |
1: 120,270,271 (GRCm39) |
T278A |
probably damaging |
Het |
Card14 |
A |
G |
11: 119,229,232 (GRCm39) |
H714R |
possibly damaging |
Het |
Catsperd |
T |
C |
17: 56,940,521 (GRCm39) |
F69S |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,805,706 (GRCm39) |
E105G |
probably damaging |
Het |
Coil |
A |
G |
11: 88,864,962 (GRCm39) |
Y63C |
probably damaging |
Het |
Cox14 |
A |
G |
15: 99,625,559 (GRCm39) |
|
probably null |
Het |
Defa24 |
T |
C |
8: 22,224,617 (GRCm39) |
I22T |
probably damaging |
Het |
F5 |
T |
C |
1: 164,045,059 (GRCm39) |
Y2116H |
possibly damaging |
Het |
Faf1 |
C |
T |
4: 109,534,199 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,436,167 (GRCm39) |
S1026G |
probably benign |
Het |
Hgf |
A |
T |
5: 16,820,800 (GRCm39) |
H649L |
probably benign |
Het |
Hmces |
T |
C |
6: 87,910,283 (GRCm39) |
V231A |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,632,598 (GRCm39) |
V963A |
probably benign |
Het |
Ltbp1 |
T |
C |
17: 75,692,196 (GRCm39) |
|
probably null |
Het |
Meox2 |
G |
A |
12: 37,217,493 (GRCm39) |
|
probably benign |
Het |
Mis18bp1 |
A |
C |
12: 65,196,113 (GRCm39) |
S550R |
probably benign |
Het |
Nap1l4 |
A |
T |
7: 143,095,497 (GRCm39) |
M1K |
probably null |
Het |
Nav1 |
G |
T |
1: 135,512,337 (GRCm39) |
T241N |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,454,264 (GRCm39) |
W2694R |
probably damaging |
Het |
Or11g2 |
A |
T |
14: 50,856,579 (GRCm39) |
H300L |
probably benign |
Het |
Or2b6 |
C |
A |
13: 21,823,331 (GRCm39) |
D121Y |
probably damaging |
Het |
Or4c52 |
A |
T |
2: 89,845,855 (GRCm39) |
I194F |
possibly damaging |
Het |
Pld1 |
G |
A |
3: 28,125,426 (GRCm39) |
|
probably null |
Het |
Podn |
T |
C |
4: 107,875,055 (GRCm39) |
R164G |
probably benign |
Het |
Qrfprl |
A |
T |
6: 65,433,290 (GRCm39) |
H370L |
probably benign |
Het |
R3hdm1 |
T |
A |
1: 128,162,821 (GRCm39) |
L966Q |
probably damaging |
Het |
Rasef |
A |
T |
4: 73,662,301 (GRCm39) |
Y369* |
probably null |
Het |
Ryr1 |
A |
T |
7: 28,777,989 (GRCm39) |
V2176E |
probably damaging |
Het |
Sec14l2 |
A |
G |
11: 4,053,980 (GRCm39) |
L229P |
possibly damaging |
Het |
Sec23a |
T |
C |
12: 59,048,652 (GRCm39) |
S157G |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,346,814 (GRCm39) |
W219R |
probably damaging |
Het |
Smarcad1 |
G |
A |
6: 65,033,400 (GRCm39) |
E128K |
probably damaging |
Het |
Stk31 |
A |
T |
6: 49,400,318 (GRCm39) |
N381I |
possibly damaging |
Het |
Svop |
A |
G |
5: 114,180,356 (GRCm39) |
Y264H |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,607,066 (GRCm39) |
I3987N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,643,738 (GRCm39) |
S4367T |
probably benign |
Het |
Vdr |
A |
T |
15: 97,765,052 (GRCm39) |
V229D |
probably damaging |
Het |
Ywhaz |
G |
T |
15: 36,790,959 (GRCm39) |
T88K |
possibly damaging |
Het |
Zc3h10 |
A |
T |
10: 128,380,672 (GRCm39) |
C228* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGCTGTATCCCCGAGTTTGC -3'
(R):5'- CAGGAAAGGGCCATTATGACTCAGG -3'
Sequencing Primer
(F):5'- atcctattgccacagcctc -3'
(R):5'- GCCATTATGACTCAGGAGACTGTC -3'
|
Posted On |
2014-05-14 |