Incidental Mutation 'IGL03145:Afap1l1'
ID |
410874 |
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 # |
IGL03145
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61874880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 434
(K434E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120472]
[ENSMUST00000154876]
|
AlphaFold |
Q8BZI0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120472
AA Change: K434E
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113286 Gene: ENSMUSG00000033032 AA Change: K434E
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
A |
G |
10: 21,469,337 (GRCm39) |
D17G |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,277,695 (GRCm39) |
P29S |
probably benign |
Het |
Akap7 |
T |
C |
10: 25,115,565 (GRCm39) |
T187A |
probably damaging |
Het |
Atp7b |
A |
C |
8: 22,508,159 (GRCm39) |
I479S |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,212,593 (GRCm39) |
E1606V |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,755 (GRCm39) |
S530G |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,727,040 (GRCm39) |
Y228H |
probably benign |
Het |
Cybb |
C |
A |
X: 9,319,892 (GRCm39) |
E203* |
probably null |
Het |
Dnah6 |
A |
T |
6: 73,018,037 (GRCm39) |
M3594K |
probably damaging |
Het |
Galnt14 |
C |
A |
17: 73,811,903 (GRCm39) |
Q439H |
possibly damaging |
Het |
Gck |
T |
A |
11: 5,859,093 (GRCm39) |
D158V |
probably damaging |
Het |
Gm5624 |
A |
G |
14: 44,798,222 (GRCm39) |
M85T |
possibly damaging |
Het |
Hgsnat |
A |
T |
8: 26,436,480 (GRCm39) |
N557K |
probably damaging |
Het |
Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
Itgam |
A |
G |
7: 127,712,191 (GRCm39) |
D692G |
probably benign |
Het |
Lrrtm3 |
A |
G |
10: 63,924,799 (GRCm39) |
Y123H |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,022,595 (GRCm39) |
R566H |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,220,802 (GRCm39) |
L999Q |
probably damaging |
Het |
Myo6 |
T |
G |
9: 80,207,947 (GRCm39) |
Y1146* |
probably null |
Het |
Nr3c1 |
C |
A |
18: 39,619,313 (GRCm39) |
G325W |
probably damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,434 (GRCm39) |
V173A |
probably benign |
Het |
Or5p72 |
T |
A |
7: 108,021,806 (GRCm39) |
H9Q |
probably benign |
Het |
Or7e170 |
T |
A |
9: 19,794,735 (GRCm39) |
I289F |
possibly damaging |
Het |
Phf1 |
T |
C |
17: 27,153,344 (GRCm39) |
|
probably null |
Het |
Piezo1 |
T |
C |
8: 123,209,660 (GRCm39) |
T2349A |
probably benign |
Het |
Pih1d1 |
T |
C |
7: 44,808,545 (GRCm39) |
|
probably null |
Het |
Pold3 |
A |
G |
7: 99,745,719 (GRCm39) |
S145P |
probably damaging |
Het |
Prpf38b |
G |
T |
3: 108,811,261 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,521,521 (GRCm39) |
M545K |
probably benign |
Het |
Safb |
T |
C |
17: 56,912,287 (GRCm39) |
Y802H |
probably damaging |
Het |
Serpina3f |
A |
T |
12: 104,183,716 (GRCm39) |
M193L |
probably benign |
Het |
Slc43a2 |
G |
A |
11: 75,459,263 (GRCm39) |
V432M |
probably benign |
Het |
Spata2l |
T |
C |
8: 123,960,075 (GRCm39) |
R405G |
possibly damaging |
Het |
Sv2c |
A |
G |
13: 96,125,606 (GRCm39) |
V377A |
probably damaging |
Het |
Tbc1d15 |
C |
T |
10: 115,038,421 (GRCm39) |
M597I |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,492,175 (GRCm39) |
R1036S |
probably damaging |
Het |
Tjp3 |
A |
G |
10: 81,119,522 (GRCm39) |
Y15H |
probably benign |
Het |
Tkt |
A |
G |
14: 30,282,645 (GRCm39) |
|
probably benign |
Het |
Tpm2 |
T |
C |
4: 43,519,447 (GRCm39) |
E145G |
probably damaging |
Het |
Trib2 |
G |
A |
12: 15,859,932 (GRCm39) |
H110Y |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,453,224 (GRCm39) |
S342T |
probably damaging |
Het |
Ube2o |
T |
C |
11: 116,434,835 (GRCm39) |
E542G |
probably damaging |
Het |
Usp36 |
T |
C |
11: 118,170,067 (GRCm39) |
D218G |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,846 (GRCm39) |
L1921P |
probably damaging |
Het |
Zfp983 |
G |
T |
17: 21,877,924 (GRCm39) |
M42I |
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 |
|
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 |
|
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 |