Incidental Mutation 'IGL03111:Aftph'
ID |
419187 |
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 # |
IGL03111
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
20635084-20691589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20676040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 523
(D523G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035350]
[ENSMUST00000146722]
[ENSMUST00000177014]
[ENSMUST00000177543]
|
AlphaFold |
Q80WT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035350
AA Change: D523G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000036778 Gene: ENSMUSG00000049659 AA Change: D523G
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 benign
Transcript: ENSMUST00000146722
AA Change: D523G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121612 Gene: ENSMUSG00000049659 AA Change: D523G
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 |
unknown
Transcript: ENSMUST00000176782
AA Change: D44G
|
SMART Domains |
Protein: ENSMUSP00000134791 Gene: ENSMUSG00000049659 AA Change: D44G
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177014
AA Change: D368G
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135450 Gene: ENSMUSG00000049659 AA Change: D368G
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 |
probably benign
Transcript: ENSMUST00000177543
AA Change: D523G
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134991 Gene: ENSMUSG00000049659 AA Change: D523G
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh1 |
A |
C |
12: 87,480,907 (GRCm39) |
H176Q |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arid4a |
G |
A |
12: 71,086,740 (GRCm39) |
A193T |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,538,684 (GRCm39) |
S492P |
possibly damaging |
Het |
Cep170b |
C |
T |
12: 112,701,613 (GRCm39) |
T164I |
probably damaging |
Het |
Chst1 |
T |
C |
2: 92,443,692 (GRCm39) |
Y55H |
possibly damaging |
Het |
Clybl |
C |
T |
14: 122,639,395 (GRCm39) |
P320S |
probably damaging |
Het |
Cpne9 |
T |
C |
6: 113,277,571 (GRCm39) |
I430T |
possibly damaging |
Het |
Cyc1 |
T |
G |
15: 76,229,072 (GRCm39) |
S113A |
probably benign |
Het |
Cyp4b1 |
C |
T |
4: 115,493,066 (GRCm39) |
|
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,462,910 (GRCm39) |
D489G |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,473,809 (GRCm39) |
D15G |
probably damaging |
Het |
Ephb4 |
C |
A |
5: 137,370,767 (GRCm39) |
F933L |
probably benign |
Het |
Fan1 |
A |
T |
7: 63,999,816 (GRCm39) |
D856E |
possibly damaging |
Het |
Gabra6 |
T |
A |
11: 42,207,844 (GRCm39) |
D208V |
probably damaging |
Het |
Kif3b |
T |
A |
2: 153,171,988 (GRCm39) |
S719R |
probably benign |
Het |
Ldhd |
A |
C |
8: 112,353,797 (GRCm39) |
C439G |
probably damaging |
Het |
Lipo3 |
C |
T |
19: 33,559,637 (GRCm39) |
V78I |
probably damaging |
Het |
Mterf2 |
A |
T |
10: 84,955,786 (GRCm39) |
Y279* |
probably null |
Het |
Myo9a |
G |
T |
9: 59,734,526 (GRCm39) |
A703S |
probably benign |
Het |
Ndst3 |
T |
A |
3: 123,465,745 (GRCm39) |
T76S |
possibly damaging |
Het |
Nlrp4f |
A |
T |
13: 65,330,816 (GRCm39) |
L859Q |
probably damaging |
Het |
Nlrp4g |
T |
A |
9: 124,353,978 (GRCm38) |
|
noncoding transcript |
Het |
Or1s2 |
T |
A |
19: 13,758,343 (GRCm39) |
Y122* |
probably null |
Het |
Or51g2 |
G |
A |
7: 102,622,738 (GRCm39) |
R154C |
probably damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,947 (GRCm39) |
T149I |
probably benign |
Het |
Osgin1 |
A |
T |
8: 120,169,788 (GRCm39) |
K113M |
probably damaging |
Het |
Plcb4 |
T |
A |
2: 135,818,202 (GRCm39) |
Y823N |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,327,653 (GRCm39) |
I856V |
probably benign |
Het |
Pxdn |
T |
A |
12: 30,032,755 (GRCm39) |
S180T |
probably damaging |
Het |
Skint9 |
T |
A |
4: 112,248,921 (GRCm39) |
N169I |
probably benign |
Het |
Slc24a1 |
T |
C |
9: 64,833,608 (GRCm39) |
T996A |
probably damaging |
Het |
Tbc1d20 |
T |
C |
2: 152,149,998 (GRCm39) |
Y91H |
probably damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,049,369 (GRCm39) |
Y772C |
probably damaging |
Het |
Thbd |
T |
A |
2: 148,248,392 (GRCm39) |
E492V |
probably benign |
Het |
Thra |
A |
G |
11: 98,651,855 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,867,225 (GRCm39) |
S403P |
probably damaging |
Het |
Zfp455 |
T |
C |
13: 67,356,063 (GRCm39) |
S444P |
probably benign |
Het |
Zfp946 |
A |
G |
17: 22,673,537 (GRCm39) |
H97R |
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 |
IGL01739:Aftph
|
APN |
11 |
20,676,994 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
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 |
2016-08-02 |