Incidental Mutation 'R3698:Afap1l2'
| ID |
269901 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56904955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 549
(S549I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107210
(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 |
possibly damaging
Transcript: ENSMUST00000111584
AA Change: S549I
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: S549I
| 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: S531I
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: S531I
| 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: S475I
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: S475I
| 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 |
noncoding transcript
Transcript: ENSMUST00000155467
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arpc1a |
G |
T |
5: 145,033,001 (GRCm39) |
K103N |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,722 (GRCm39) |
S136P |
probably benign |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,821,054 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| G3bp2 |
T |
C |
5: 92,204,139 (GRCm39) |
E316G |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,757,890 (GRCm39) |
L767P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl13 |
G |
A |
X: 23,114,422 (GRCm39) |
T94I |
probably benign |
Het |
| Morc2a |
A |
T |
11: 3,629,672 (GRCm39) |
K364* |
probably null |
Het |
| Nat8f2 |
T |
A |
6: 85,844,778 (GRCm39) |
T195S |
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,251,892 (GRCm39) |
I467F |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,114,662 (GRCm39) |
L253Q |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,909,407 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,564,595 (GRCm39) |
R28514H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,017,643 (GRCm39) |
D51G |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,589,150 (GRCm39) |
E417G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCTTGTACCTGCTGCAC -3'
(R):5'- TGTGTTCTGAGCCTTCTGAC -3'
Sequencing Primer
(F):5'- GTACCTGCTGCACCTCTGG -3'
(R):5'- GACTCTGGGCTCTGACATCC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation