Incidental Mutation 'IGL02418:Afap1l1'
| ID |
292553 |
| 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 # |
IGL02418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61885648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 156
(D156G)
|
| 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: D156G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: D156G
| 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 |
|---|
| Abi3bp |
T |
A |
16: 56,424,479 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,156,730 (GRCm39) |
V436A |
probably benign |
Het |
| Arhgap21 |
G |
A |
2: 20,885,711 (GRCm39) |
R489C |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,490,620 (GRCm39) |
|
probably benign |
Het |
| Bbs5 |
T |
G |
2: 69,485,849 (GRCm39) |
*89G |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,493,359 (GRCm39) |
Y794F |
possibly damaging |
Het |
| Ces3b |
T |
C |
8: 105,812,279 (GRCm39) |
V176A |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,642,461 (GRCm39) |
H105R |
probably benign |
Het |
| Chat |
C |
T |
14: 32,168,906 (GRCm39) |
V210I |
possibly damaging |
Het |
| Chd1l |
A |
G |
3: 97,488,415 (GRCm39) |
S534P |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,928,182 (GRCm39) |
L106P |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,162 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,495,679 (GRCm39) |
C1436R |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,361 (GRCm39) |
F130I |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,267,519 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,994 (GRCm39) |
V428A |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,888,433 (GRCm39) |
D496G |
probably null |
Het |
| Gapvd1 |
T |
C |
2: 34,620,530 (GRCm39) |
T44A |
probably benign |
Het |
| Gm17093 |
T |
A |
14: 44,758,185 (GRCm39) |
M122K |
unknown |
Het |
| Gm5356 |
A |
T |
8: 89,914,064 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
G |
T |
1: 75,415,664 (GRCm39) |
G126C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,467,656 (GRCm39) |
H37R |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,914 (GRCm39) |
I349V |
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,100,533 (GRCm39) |
Y159* |
probably null |
Het |
| Naa16 |
C |
A |
14: 79,620,806 (GRCm39) |
R57L |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,530,725 (GRCm39) |
V238E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,787 (GRCm39) |
Y35C |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,454,200 (GRCm39) |
H21Q |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,284 (GRCm39) |
Y47C |
probably damaging |
Het |
| Paxbp1 |
A |
C |
16: 90,831,000 (GRCm39) |
C459G |
probably damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,293 (GRCm39) |
R222C |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,556,883 (GRCm39) |
D1652G |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,526,080 (GRCm39) |
F78I |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,075 (GRCm39) |
|
probably benign |
Het |
| Spata4 |
C |
A |
8: 55,062,978 (GRCm39) |
N294K |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,449,470 (GRCm39) |
Y478* |
probably null |
Het |
| Tcte1 |
T |
A |
17: 45,852,128 (GRCm39) |
S454T |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,335,598 (GRCm39) |
V105I |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,829,765 (GRCm39) |
I200N |
probably benign |
Het |
| Tpgs1 |
G |
A |
10: 79,505,289 (GRCm39) |
V16M |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,797,447 (GRCm39) |
T539K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,293,557 (GRCm39) |
S2542G |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,864 (GRCm39) |
L343H |
probably damaging |
Het |
| Zmat2 |
T |
A |
18: 36,927,392 (GRCm39) |
Y21N |
probably damaging |
Het |
| Zyx |
C |
T |
6: 42,334,327 (GRCm39) |
A517V |
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 |
|
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 |
Incidental Mutation