Incidental Mutation 'IGL02888:Afap1l1'
| ID |
363060 |
| 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 # |
IGL02888
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61881879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 272
(Y272F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120472]
[ENSMUST00000154876]
|
| AlphaFold |
Q8BZI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120472
AA Change: Y272F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: Y272F
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
| AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
| Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
| Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,365 (GRCm39) |
R1043H |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
| Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
| Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
| Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
| Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
| Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,331,169 (GRCm39) |
P169L |
probably damaging |
Het |
| Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
| Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,159 (GRCm39) |
Y249N |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
| Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
| Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,080,980 (GRCm39) |
L438Q |
probably damaging |
Het |
| Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
| Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
| Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
| Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
| Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
| Sytl3 |
A |
G |
17: 7,000,483 (GRCm39) |
T218A |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,447,297 (GRCm39) |
D565G |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
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 |
|
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 |
2015-12-18 |
Incidental Mutation