Incidental Mutation 'IGL01012:Afap1l2'
| ID |
54091 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Afap1l2
|
| Ensembl Gene |
ENSMUSG00000025083 |
| Gene Name |
actin filament associated protein 1-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL01012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56918693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 30
(E30G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
[ENSMUST00000126964]
[ENSMUST00000148049]
[ENSMUST00000225394]
|
| AlphaFold |
Q5DTU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111584
AA Change: E154G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: E154G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
30 |
153 |
3e-60 |
BLAST |
|
low complexity region
|
160 |
170 |
N/A |
INTRINSIC |
|
PH
|
194 |
291 |
9.27e-9 |
SMART |
|
PH
|
372 |
467 |
3.11e-10 |
SMART |
|
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
|
coiled coil region
|
675 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118800
AA Change: E136G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: E136G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
12 |
135 |
3e-60 |
BLAST |
|
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
|
PH
|
176 |
273 |
9.27e-9 |
SMART |
|
PH
|
354 |
449 |
3.11e-10 |
SMART |
|
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
608 |
N/A |
INTRINSIC |
|
coiled coil region
|
657 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
786 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122359
AA Change: E80G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
3e-32 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
PH
|
120 |
217 |
9.27e-9 |
SMART |
|
PH
|
298 |
393 |
3.11e-10 |
SMART |
|
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126964
AA Change: E80G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123400
Gene: ENSMUSG00000025083
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
5e-36 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148049
AA Change: E80G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120490
Gene: ENSMUSG00000025083
AA Change: E80G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
2e-34 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
PH
|
120 |
217 |
9.27e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155467
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225394
AA Change: E30G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,972,772 (GRCm39) |
M249K |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,426 (GRCm39) |
F879S |
possibly damaging |
Het |
| Aqp9 |
A |
G |
9: 71,037,831 (GRCm39) |
|
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,977 (GRCm39) |
S921P |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,514,749 (GRCm39) |
I22T |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,857,963 (GRCm39) |
|
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,730 (GRCm39) |
D65E |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,507 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
G |
A |
10: 58,376,737 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,904,838 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,123 (GRCm39) |
I241F |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,945,477 (GRCm39) |
N192K |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,341 (GRCm39) |
K3174R |
probably benign |
Het |
| Dpy30 |
A |
T |
17: 74,614,749 (GRCm39) |
L65I |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,312 (GRCm39) |
L83* |
probably null |
Het |
| F7 |
A |
T |
8: 13,083,409 (GRCm39) |
E183V |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,512 (GRCm39) |
K214R |
probably benign |
Het |
| Galr2 |
A |
T |
11: 116,173,996 (GRCm39) |
T209S |
probably damaging |
Het |
| Gimap9 |
T |
C |
6: 48,654,851 (GRCm39) |
|
probably null |
Het |
| Gip |
C |
A |
11: 95,916,285 (GRCm39) |
F28L |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,542 (GRCm39) |
N662S |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,149,052 (GRCm39) |
D511A |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,876,452 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,561 (GRCm39) |
|
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,511 (GRCm39) |
E332G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,136,020 (GRCm39) |
S5L |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,246,659 (GRCm39) |
R1087W |
probably damaging |
Het |
| Katnal2 |
C |
A |
18: 77,105,250 (GRCm39) |
V66F |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,900 (GRCm39) |
D284G |
probably benign |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,831 (GRCm39) |
|
probably benign |
Het |
| Map1s |
C |
A |
8: 71,366,554 (GRCm39) |
N486K |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,872,093 (GRCm39) |
D842N |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,803,714 (GRCm39) |
M306K |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,022,159 (GRCm39) |
V377I |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,075,451 (GRCm39) |
G558R |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,638,039 (GRCm39) |
A305E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,086,373 (GRCm39) |
N5233K |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,503 (GRCm39) |
I181T |
possibly damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,661 (GRCm39) |
M81L |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,937 (GRCm39) |
|
probably benign |
Het |
| P3h2 |
A |
C |
16: 25,805,998 (GRCm39) |
C282G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,268 (GRCm39) |
C167S |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,526 (GRCm39) |
|
probably benign |
Het |
| Peli2 |
C |
T |
14: 48,490,187 (GRCm39) |
R169* |
probably null |
Het |
| Pramel16 |
T |
A |
4: 143,676,784 (GRCm39) |
|
probably benign |
Het |
| Psme3ip1 |
G |
A |
8: 95,313,990 (GRCm39) |
R104W |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,263,659 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Scap |
C |
A |
9: 110,191,488 (GRCm39) |
P50H |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,257 (GRCm39) |
D125E |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,945,560 (GRCm39) |
|
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,195 (GRCm39) |
V346A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,808,880 (GRCm39) |
N129I |
probably damaging |
Het |
| Sod2 |
C |
T |
17: 13,232,464 (GRCm39) |
A163V |
possibly damaging |
Het |
| Spred3 |
T |
A |
7: 28,860,948 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,737,912 (GRCm39) |
A423E |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,196 (GRCm39) |
S261T |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,769,152 (GRCm39) |
K58E |
probably damaging |
Het |
| Timm10b |
C |
A |
7: 105,290,345 (GRCm39) |
Y79* |
probably null |
Het |
| Tmem204 |
T |
C |
17: 25,289,329 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfrsf25 |
T |
C |
4: 152,202,885 (GRCm39) |
V181A |
probably benign |
Het |
| Trim54 |
T |
G |
5: 31,294,302 (GRCm39) |
S313A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,714 (GRCm39) |
D1433E |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,555 (GRCm39) |
T462A |
probably benign |
Het |
| Wdr27 |
T |
A |
17: 15,146,509 (GRCm39) |
H162L |
probably damaging |
Het |
|
| Other mutations in Afap1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Afap1l2
|
APN |
19 |
56,990,740 (GRCm39) |
splice site |
probably benign |
|
|
IGL01089:Afap1l2
|
APN |
19 |
56,901,843 (GRCm39) |
splice site |
probably null |
|
|
IGL01150:Afap1l2
|
APN |
19 |
56,918,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02393:Afap1l2
|
APN |
19 |
56,902,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Afap1l2
|
APN |
19 |
56,908,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Afap1l2
|
APN |
19 |
56,902,682 (GRCm39) |
nonsense |
probably null |
|
|
R0102:Afap1l2
|
UTSW |
19 |
56,916,872 (GRCm39) |
unclassified |
probably benign |
|
|
R0102:Afap1l2
|
UTSW |
19 |
56,916,872 (GRCm39) |
unclassified |
probably benign |
|
|
R0282:Afap1l2
|
UTSW |
19 |
56,904,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0388:Afap1l2
|
UTSW |
19 |
56,905,674 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Afap1l2
|
UTSW |
19 |
56,905,551 (GRCm39) |
splice site |
probably benign |
|
|
R0497:Afap1l2
|
UTSW |
19 |
56,918,641 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0578:Afap1l2
|
UTSW |
19 |
56,904,214 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0631:Afap1l2
|
UTSW |
19 |
56,904,517 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0670:Afap1l2
|
UTSW |
19 |
56,904,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1188:Afap1l2
|
UTSW |
19 |
56,913,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1236:Afap1l2
|
UTSW |
19 |
56,904,904 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1274:Afap1l2
|
UTSW |
19 |
56,902,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1463:Afap1l2
|
UTSW |
19 |
56,918,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1497:Afap1l2
|
UTSW |
19 |
56,916,743 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1597:Afap1l2
|
UTSW |
19 |
56,902,881 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1778:Afap1l2
|
UTSW |
19 |
56,904,638 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1795:Afap1l2
|
UTSW |
19 |
56,916,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Afap1l2
|
UTSW |
19 |
56,990,699 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2113:Afap1l2
|
UTSW |
19 |
56,901,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2242:Afap1l2
|
UTSW |
19 |
56,902,900 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3429:Afap1l2
|
UTSW |
19 |
56,904,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Afap1l2
|
UTSW |
19 |
56,904,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3698:Afap1l2
|
UTSW |
19 |
56,904,955 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4706:Afap1l2
|
UTSW |
19 |
56,925,672 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4956:Afap1l2
|
UTSW |
19 |
56,931,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4993:Afap1l2
|
UTSW |
19 |
56,906,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Afap1l2
|
UTSW |
19 |
56,911,406 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5878:Afap1l2
|
UTSW |
19 |
56,904,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6194:Afap1l2
|
UTSW |
19 |
56,911,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Afap1l2
|
UTSW |
19 |
56,904,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6334:Afap1l2
|
UTSW |
19 |
56,906,408 (GRCm39) |
splice site |
probably null |
|
|
R6439:Afap1l2
|
UTSW |
19 |
56,916,818 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7332:Afap1l2
|
UTSW |
19 |
56,906,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Afap1l2
|
UTSW |
19 |
56,906,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Afap1l2
|
UTSW |
19 |
56,933,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7696:Afap1l2
|
UTSW |
19 |
56,902,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Afap1l2
|
UTSW |
19 |
56,902,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7940:Afap1l2
|
UTSW |
19 |
56,902,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8221:Afap1l2
|
UTSW |
19 |
56,902,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Afap1l2
|
UTSW |
19 |
56,918,403 (GRCm39) |
unclassified |
probably benign |
|
|
R9114:Afap1l2
|
UTSW |
19 |
56,906,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Afap1l2
|
UTSW |
19 |
56,916,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Afap1l2
|
UTSW |
19 |
56,906,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Afap1l2
|
UTSW |
19 |
56,922,195 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0062:Afap1l2
|
UTSW |
19 |
56,906,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation