Incidental Mutation 'R3429:Afap1l2'
ID |
268038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afap1l2
|
Ensembl Gene |
ENSMUSG00000025083 |
Gene Name |
actin filament associated protein 1-like 2 |
Synonyms |
|
MMRRC Submission |
040647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R3429 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 56904238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 683
(R683L)
|
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 |
probably damaging
Transcript: ENSMUST00000111584
AA Change: R683L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107210 Gene: ENSMUSG00000025083 AA Change: R683L
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: R665L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113745 Gene: ENSMUSG00000025083 AA Change: R665L
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: R609L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112387 Gene: ENSMUSG00000025083 AA Change: R609L
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
|
Meta Mutation Damage Score |
0.7298 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,613,249 (GRCm39) |
M1K |
probably null |
Het |
Ankfy1 |
C |
T |
11: 72,602,980 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Asah1 |
C |
T |
8: 41,804,925 (GRCm39) |
|
probably benign |
Het |
B4galnt4 |
T |
C |
7: 140,650,752 (GRCm39) |
L842P |
probably damaging |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Cdh5 |
T |
A |
8: 104,857,600 (GRCm39) |
I342N |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,512,088 (GRCm39) |
E109D |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,035,112 (GRCm39) |
L913S |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,438,573 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
T |
A |
19: 39,151,892 (GRCm39) |
N202K |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,937,832 (GRCm39) |
|
probably null |
Het |
Fgg |
T |
A |
3: 82,920,090 (GRCm39) |
F290I |
probably damaging |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Foxl2 |
T |
C |
9: 98,838,035 (GRCm39) |
F108L |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Gstz1 |
T |
A |
12: 87,210,470 (GRCm39) |
|
probably null |
Het |
Hacd1 |
T |
C |
2: 14,049,586 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,299,156 (GRCm39) |
L2834Q |
possibly damaging |
Het |
Hs3st3a1 |
C |
T |
11: 64,327,148 (GRCm39) |
R86W |
probably benign |
Het |
Krtap1-4 |
G |
C |
11: 99,474,020 (GRCm39) |
|
probably benign |
Het |
Lmntd2 |
A |
G |
7: 140,793,910 (GRCm39) |
V21A |
probably benign |
Het |
Lonp1 |
T |
A |
17: 56,925,337 (GRCm39) |
D485V |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,236,427 (GRCm39) |
T1346A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,976,141 (GRCm39) |
T6A |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,466,866 (GRCm39) |
V1299E |
probably damaging |
Het |
Myo1d |
C |
T |
11: 80,573,236 (GRCm39) |
G197E |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,097 (GRCm39) |
Y259F |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or2y1e |
C |
T |
11: 49,218,868 (GRCm39) |
A210V |
probably benign |
Het |
Or4c121 |
T |
A |
2: 89,023,617 (GRCm39) |
I254L |
probably benign |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,185,443 (GRCm39) |
D49G |
probably benign |
Het |
Prkcq |
T |
C |
2: 11,251,781 (GRCm39) |
I206T |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Sgce |
T |
A |
6: 4,730,008 (GRCm39) |
D72V |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sost |
C |
G |
11: 101,854,865 (GRCm39) |
G148A |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,609,854 (GRCm39) |
E138G |
probably damaging |
Het |
Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,891,605 (GRCm39) |
C649* |
probably null |
Het |
Tnxb |
A |
G |
17: 34,922,561 (GRCm39) |
Y2458C |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,357,544 (GRCm39) |
H1117R |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,352,756 (GRCm39) |
|
probably benign |
Het |
Zfp764l1 |
T |
C |
7: 126,990,914 (GRCm39) |
T358A |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 7,230,625 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
C |
15: 12,153,006 (GRCm39) |
S546P |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCCCTCTCAAAGCCCGTG -3'
(R):5'- TTCACACGAGAGGATGGGTTC -3'
Sequencing Primer
(F):5'- TTGAGTGAGACAAAGTTCCACCCTG -3'
(R):5'- GGATGGGTTCACAGAGGTG -3'
|
Posted On |
2015-02-18 |