Incidental Mutation 'IGL02393:Afap1l2'
| ID |
293885 |
| 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: 0.083)
|
| Stock # |
IGL02393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56902872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 695
(K695R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026068]
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
|
| AlphaFold |
Q5DTU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026068
|
| SMART Domains |
Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
49 |
222 |
6.9e-35 |
SMART |
|
EGF
|
297 |
332 |
2.99e-4 |
SMART |
|
VWA
|
340 |
517 |
1.26e-28 |
SMART |
|
VWA
|
528 |
705 |
1.55e-37 |
SMART |
|
EGF
|
714 |
747 |
5e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111584
AA Change: K769R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: K769R
| 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 damaging
Transcript: ENSMUST00000118800
AA Change: K751R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: K751R
| 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 damaging
Transcript: ENSMUST00000122359
AA Change: K695R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: K695R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
| Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
| Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
| Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
| Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
| Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
| Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
| Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
| Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
| Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
| Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
| Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
| Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
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 |
|
|
IGL01012:Afap1l2
|
APN |
19 |
56,918,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation