Incidental Mutation 'IGL02025:Afap1l1'
| ID |
184141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Afap1l1
|
| Ensembl Gene |
ENSMUSG00000033032 |
| Gene Name |
actin filament associated protein 1-like 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 61866770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120472]
[ENSMUST00000154876]
|
| AlphaFold |
Q8BZI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120472
|
| SMART Domains |
Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
PH
|
221 |
318 |
4.13e-6 |
SMART |
|
PH
|
419 |
514 |
9.41e-10 |
SMART |
|
coiled coil region
|
611 |
701 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147278
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184678
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
G |
12: 53,187,118 (GRCm39) |
T1511A |
probably benign |
Het |
| Casp8 |
A |
C |
1: 58,863,306 (GRCm39) |
I69L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,220,922 (GRCm39) |
E1274G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,554,036 (GRCm39) |
S230R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,103,976 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
G |
14: 68,000,736 (GRCm39) |
S1656P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,228 (GRCm39) |
V72D |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,337 (GRCm39) |
D1508G |
probably damaging |
Het |
| Gm20489 |
A |
C |
X: 100,307,290 (GRCm39) |
V21G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,302,056 (GRCm39) |
N22S |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,912,276 (GRCm39) |
|
probably null |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,197,751 (GRCm39) |
T501A |
probably benign |
Het |
| Npnt |
A |
C |
3: 132,596,523 (GRCm39) |
|
probably null |
Het |
| Nr1h5 |
G |
A |
3: 102,856,942 (GRCm39) |
|
probably benign |
Het |
| Opalin |
T |
C |
19: 41,060,674 (GRCm39) |
|
probably benign |
Het |
| Or10ak9 |
G |
A |
4: 118,726,362 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,433 (GRCm39) |
V20A |
possibly damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,269 (GRCm39) |
I214V |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,840,101 (GRCm39) |
L341H |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,197,010 (GRCm39) |
L32H |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,212,469 (GRCm39) |
F571S |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,191 (GRCm39) |
S460P |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,008 (GRCm39) |
S619P |
probably benign |
Het |
| Sirpb1b |
C |
T |
3: 15,613,863 (GRCm39) |
R73Q |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,571,539 (GRCm39) |
G90E |
possibly damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,620,713 (GRCm39) |
R366W |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,484 (GRCm39) |
Y783* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,464 (GRCm39) |
S55F |
probably damaging |
Het |
|
| Other mutations in Afap1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Afap1l1
|
APN |
18 |
61,869,925 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01643:Afap1l1
|
APN |
18 |
61,884,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01754:Afap1l1
|
APN |
18 |
61,870,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01945:Afap1l1
|
APN |
18 |
61,889,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02413:Afap1l1
|
APN |
18 |
61,866,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02418:Afap1l1
|
APN |
18 |
61,885,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Afap1l1
|
APN |
18 |
61,870,594 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02888:Afap1l1
|
APN |
18 |
61,881,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Afap1l1
|
APN |
18 |
61,876,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03122:Afap1l1
|
APN |
18 |
61,866,902 (GRCm39) |
missense |
probably benign |
|
|
IGL03145:Afap1l1
|
APN |
18 |
61,874,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03052:Afap1l1
|
UTSW |
18 |
61,881,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0008:Afap1l1
|
UTSW |
18 |
61,889,976 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0008:Afap1l1
|
UTSW |
18 |
61,889,976 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0217:Afap1l1
|
UTSW |
18 |
61,879,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Afap1l1
|
UTSW |
18 |
61,884,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Afap1l1
|
UTSW |
18 |
61,872,291 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0963:Afap1l1
|
UTSW |
18 |
61,870,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Afap1l1
|
UTSW |
18 |
61,874,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Afap1l1
|
UTSW |
18 |
61,874,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Afap1l1
|
UTSW |
18 |
61,888,714 (GRCm39) |
missense |
probably benign |
|
|
R1572:Afap1l1
|
UTSW |
18 |
61,870,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Afap1l1
|
UTSW |
18 |
61,876,365 (GRCm39) |
missense |
probably benign |
|
|
R1992:Afap1l1
|
UTSW |
18 |
61,874,842 (GRCm39) |
nonsense |
probably null |
|
|
R2063:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2064:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2065:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2066:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4120:Afap1l1
|
UTSW |
18 |
61,872,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Afap1l1
|
UTSW |
18 |
61,871,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4997:Afap1l1
|
UTSW |
18 |
61,884,879 (GRCm39) |
missense |
probably benign |
|
|
R5379:Afap1l1
|
UTSW |
18 |
61,891,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Afap1l1
|
UTSW |
18 |
61,876,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6774:Afap1l1
|
UTSW |
18 |
61,888,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6814:Afap1l1
|
UTSW |
18 |
61,866,812 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7085:Afap1l1
|
UTSW |
18 |
61,881,885 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7325:Afap1l1
|
UTSW |
18 |
61,869,917 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7543:Afap1l1
|
UTSW |
18 |
61,889,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7877:Afap1l1
|
UTSW |
18 |
61,879,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Afap1l1
|
UTSW |
18 |
61,891,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Afap1l1
|
UTSW |
18 |
61,874,702 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8913:Afap1l1
|
UTSW |
18 |
61,889,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9443:Afap1l1
|
UTSW |
18 |
61,879,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Afap1l1
|
UTSW |
18 |
61,879,863 (GRCm39) |
missense |
probably benign |
|
|
R9633:Afap1l1
|
UTSW |
18 |
61,890,795 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9652:Afap1l1
|
UTSW |
18 |
61,876,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Afap1l1
|
UTSW |
18 |
61,874,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9793:Afap1l1
|
UTSW |
18 |
61,874,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9795:Afap1l1
|
UTSW |
18 |
61,874,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Afap1l1
|
UTSW |
18 |
61,885,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation