Incidental Mutation 'IGL02413:Afap1l1'
ID |
292345 |
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 # |
IGL02413
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61866860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 733
(L733P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120472]
[ENSMUST00000154876]
|
AlphaFold |
Q8BZI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120472
AA Change: L733P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000113286 Gene: ENSMUSG00000033032 AA Change: L733P
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
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 |
IGL02025:Afap1l1
|
APN |
18 |
61,866,770 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |