Incidental Mutation 'IGL01739:Aftph'
ID |
105808 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aftph
|
Ensembl Gene |
ENSMUSG00000049659 |
Gene Name |
aftiphilin |
Synonyms |
9130023F12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.835)
|
Stock # |
IGL01739
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
20635084-20691589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20676994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 205
(D205G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035350]
[ENSMUST00000146722]
[ENSMUST00000177014]
[ENSMUST00000177543]
|
AlphaFold |
Q80WT5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035350
AA Change: D205G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000036778 Gene: ENSMUSG00000049659 AA Change: D205G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
693 |
765 |
1.1e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120008
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146722
AA Change: D205G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121612 Gene: ENSMUSG00000049659 AA Change: D205G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
694 |
765 |
1.2e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176782
|
SMART Domains |
Protein: ENSMUSP00000134791 Gene: ENSMUSG00000049659
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177014
AA Change: D50G
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000135450 Gene: ENSMUSG00000049659 AA Change: D50G
Domain | Start | End | E-Value | Type |
low complexity region
|
391 |
405 |
N/A |
INTRINSIC |
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
538 |
610 |
6.8e-37 |
PFAM |
low complexity region
|
664 |
677 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177543
AA Change: D205G
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134991 Gene: ENSMUSG00000049659 AA Change: D205G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
693 |
765 |
8.7e-37 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
G |
T |
7: 43,906,210 (GRCm39) |
Y88* |
probably null |
Het |
Arhgap31 |
T |
C |
16: 38,423,793 (GRCm39) |
I758V |
probably benign |
Het |
Atg9b |
A |
G |
5: 24,591,513 (GRCm39) |
|
probably null |
Het |
Auts2 |
T |
C |
5: 131,469,056 (GRCm39) |
T754A |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,024,870 (GRCm39) |
|
probably null |
Het |
Cmpk1 |
C |
T |
4: 114,822,121 (GRCm39) |
A143T |
probably benign |
Het |
Cstf2t |
C |
A |
19: 31,060,536 (GRCm39) |
P24Q |
probably damaging |
Het |
Cwc22 |
A |
G |
2: 77,757,640 (GRCm39) |
S163P |
probably damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,321,326 (GRCm39) |
M272L |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,534,278 (GRCm39) |
|
probably benign |
Het |
Focad |
T |
A |
4: 88,289,043 (GRCm39) |
I1279N |
unknown |
Het |
Gp5 |
T |
C |
16: 30,127,459 (GRCm39) |
D405G |
possibly damaging |
Het |
Guf1 |
C |
A |
5: 69,718,501 (GRCm39) |
N213K |
probably damaging |
Het |
Hacd4 |
T |
C |
4: 88,341,285 (GRCm39) |
T145A |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,681,399 (GRCm39) |
M1005T |
probably benign |
Het |
Mast4 |
T |
A |
13: 102,910,781 (GRCm39) |
T621S |
probably damaging |
Het |
Mme |
T |
C |
3: 63,247,534 (GRCm39) |
M273T |
possibly damaging |
Het |
Mos |
A |
G |
4: 3,871,816 (GRCm39) |
|
probably benign |
Het |
Msln |
C |
T |
17: 25,969,004 (GRCm39) |
|
probably null |
Het |
Mtg1 |
A |
T |
7: 139,730,149 (GRCm39) |
Q315L |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,105,354 (GRCm39) |
E1048G |
probably damaging |
Het |
Ndufa9 |
C |
T |
6: 126,821,777 (GRCm39) |
G66D |
probably damaging |
Het |
Nr1i2 |
T |
C |
16: 38,086,333 (GRCm39) |
K44R |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,165,272 (GRCm39) |
M636K |
probably benign |
Het |
Or12d12 |
A |
T |
17: 37,610,673 (GRCm39) |
F213L |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,513 (GRCm39) |
T143S |
probably benign |
Het |
Pde4b |
A |
T |
4: 102,458,832 (GRCm39) |
Q496L |
probably damaging |
Het |
Plekha6 |
T |
C |
1: 133,187,869 (GRCm39) |
V130A |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,569,834 (GRCm39) |
N139S |
probably benign |
Het |
Rbpj-ps3 |
T |
C |
6: 46,507,694 (GRCm39) |
T19A |
probably benign |
Het |
Scai |
A |
G |
2: 38,984,803 (GRCm39) |
|
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,947,733 (GRCm39) |
T617A |
probably benign |
Het |
Slc15a2 |
T |
C |
16: 36,576,592 (GRCm39) |
M481V |
probably benign |
Het |
Snx5 |
A |
G |
2: 144,112,325 (GRCm39) |
L8P |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,945,152 (GRCm39) |
A123T |
probably damaging |
Het |
Supt6 |
T |
A |
11: 78,113,013 (GRCm39) |
I977F |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,114,490 (GRCm39) |
D442G |
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,068,200 (GRCm39) |
N275K |
probably benign |
Het |
Vmn2r50 |
A |
G |
7: 9,771,364 (GRCm39) |
F779S |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,345,482 (GRCm39) |
R2574S |
probably benign |
Het |
Zbp1 |
T |
C |
2: 173,054,038 (GRCm39) |
E161G |
possibly damaging |
Het |
|
Other mutations in Aftph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Aftph
|
APN |
11 |
20,677,483 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01485:Aftph
|
APN |
11 |
20,642,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01622:Aftph
|
APN |
11 |
20,659,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01623:Aftph
|
APN |
11 |
20,659,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01777:Aftph
|
APN |
11 |
20,676,554 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01825:Aftph
|
APN |
11 |
20,676,569 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02804:Aftph
|
APN |
11 |
20,676,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03003:Aftph
|
APN |
11 |
20,676,982 (GRCm39) |
nonsense |
probably null |
|
IGL03111:Aftph
|
APN |
11 |
20,676,040 (GRCm39) |
missense |
probably benign |
0.44 |
R1103:Aftph
|
UTSW |
11 |
20,676,547 (GRCm39) |
missense |
probably benign |
0.00 |
R1672:Aftph
|
UTSW |
11 |
20,676,762 (GRCm39) |
missense |
probably benign |
0.10 |
R2060:Aftph
|
UTSW |
11 |
20,642,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Aftph
|
UTSW |
11 |
20,648,318 (GRCm39) |
nonsense |
probably null |
|
R2241:Aftph
|
UTSW |
11 |
20,676,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2513:Aftph
|
UTSW |
11 |
20,658,676 (GRCm39) |
splice site |
probably null |
|
R2518:Aftph
|
UTSW |
11 |
20,675,797 (GRCm39) |
missense |
probably damaging |
0.98 |
R4751:Aftph
|
UTSW |
11 |
20,677,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Aftph
|
UTSW |
11 |
20,658,667 (GRCm39) |
splice site |
probably benign |
|
R4879:Aftph
|
UTSW |
11 |
20,648,311 (GRCm39) |
critical splice donor site |
probably null |
|
R4895:Aftph
|
UTSW |
11 |
20,646,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R5012:Aftph
|
UTSW |
11 |
20,648,264 (GRCm39) |
intron |
probably benign |
|
R5082:Aftph
|
UTSW |
11 |
20,677,100 (GRCm39) |
missense |
probably damaging |
0.98 |
R5093:Aftph
|
UTSW |
11 |
20,659,619 (GRCm39) |
critical splice donor site |
probably null |
|
R5160:Aftph
|
UTSW |
11 |
20,662,197 (GRCm39) |
missense |
probably benign |
0.03 |
R5288:Aftph
|
UTSW |
11 |
20,676,994 (GRCm39) |
missense |
probably damaging |
0.98 |
R5338:Aftph
|
UTSW |
11 |
20,677,203 (GRCm39) |
missense |
probably benign |
0.18 |
R5794:Aftph
|
UTSW |
11 |
20,676,955 (GRCm39) |
splice site |
probably null |
|
R6747:Aftph
|
UTSW |
11 |
20,676,144 (GRCm39) |
splice site |
probably null |
|
R6876:Aftph
|
UTSW |
11 |
20,659,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Aftph
|
UTSW |
11 |
20,642,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7284:Aftph
|
UTSW |
11 |
20,676,812 (GRCm39) |
missense |
probably benign |
0.00 |
R7371:Aftph
|
UTSW |
11 |
20,676,836 (GRCm39) |
missense |
probably benign |
|
R7974:Aftph
|
UTSW |
11 |
20,648,233 (GRCm39) |
makesense |
probably null |
|
R8290:Aftph
|
UTSW |
11 |
20,675,712 (GRCm39) |
missense |
probably benign |
0.01 |
X0028:Aftph
|
UTSW |
11 |
20,676,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |