Incidental Mutation 'IGL03122:Afap1l1'
ID |
410012 |
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: 0.059)
|
Stock # |
IGL03122
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61866902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 719
(D719G)
|
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: D719G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113286 Gene: ENSMUSG00000033032 AA Change: D719G
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
Ccdc24 |
A |
G |
4: 117,728,942 (GRCm39) |
|
probably null |
Het |
Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
Cry2 |
G |
A |
2: 92,243,640 (GRCm39) |
R439C |
probably damaging |
Het |
Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
Dlgap3 |
T |
C |
4: 127,089,018 (GRCm39) |
S205P |
possibly damaging |
Het |
Echdc2 |
T |
A |
4: 108,022,777 (GRCm39) |
S18T |
probably benign |
Het |
Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
Or2n1d |
T |
C |
17: 38,646,192 (GRCm39) |
V48A |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
Or9q1 |
A |
G |
19: 13,805,014 (GRCm39) |
S249P |
possibly damaging |
Het |
Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
possibly 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 |
|
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 |
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 |
2016-08-02 |