Incidental Mutation 'IGL01777:Aftph'
ID |
154114 |
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 # |
IGL01777
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
20635084-20691589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20676554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 352
(C352S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035350]
[ENSMUST00000146722]
[ENSMUST00000177014]
[ENSMUST00000177543]
|
AlphaFold |
Q80WT5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035350
AA Change: C352S
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036778 Gene: ENSMUSG00000049659 AA Change: C352S
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 |
possibly damaging
Transcript: ENSMUST00000146722
AA Change: C352S
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121612 Gene: ENSMUSG00000049659 AA Change: C352S
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: C197S
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135450 Gene: ENSMUSG00000049659 AA Change: C197S
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: C352S
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134991 Gene: ENSMUSG00000049659 AA Change: C352S
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
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 |
IGL01739:Aftph
|
APN |
11 |
20,676,994 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2014-02-04 |