Incidental Mutation 'R9201:Afap1l2'
| ID |
698253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1l2
|
| Ensembl Gene |
ENSMUSG00000025083 |
| Gene Name |
actin filament associated protein 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R9201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56916688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 280
(W280L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
[ENSMUST00000126964]
[ENSMUST00000148049]
[ENSMUST00000225394]
|
| AlphaFold |
Q5DTU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111584
AA Change: W280L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: W280L
| 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: W262L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: W262L
| 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: W206L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: W206L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123400
Gene: ENSMUSG00000025083
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
5e-36 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148049
AA Change: W206L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120490
Gene: ENSMUSG00000025083
AA Change: W206L
| 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 |
probably benign
Transcript: ENSMUST00000225394
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,150,709 (GRCm39) |
V21A |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,880 (GRCm39) |
F167S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,378,798 (GRCm39) |
M2540K |
possibly damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,687 (GRCm39) |
V50A |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,903 (GRCm39) |
Q415L |
possibly damaging |
Het |
| Cat |
A |
T |
2: 103,304,754 (GRCm39) |
D90E |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,237,825 (GRCm39) |
L20P |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cimap3 |
T |
A |
3: 105,906,921 (GRCm39) |
K159N |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,684 (GRCm39) |
I230T |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,699 (GRCm39) |
T159A |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,138,000 (GRCm39) |
D88G |
probably benign |
Het |
| Edem3 |
G |
T |
1: 151,694,324 (GRCm39) |
V886F |
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,525,214 (GRCm39) |
V437A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,079 (GRCm39) |
V1324A |
probably damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,494,217 (GRCm39) |
E161G |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,127,613 (GRCm39) |
Y318* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kmt5a |
A |
T |
5: 124,597,912 (GRCm39) |
E256D |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,205 (GRCm39) |
S179T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,093 (GRCm39) |
H844L |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,360,906 (GRCm39) |
T230A |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,263,473 (GRCm39) |
K322R |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,749 (GRCm39) |
I293T |
probably damaging |
Het |
| Or9a7 |
C |
T |
6: 40,521,293 (GRCm39) |
V207I |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,245,365 (GRCm39) |
S256P |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,678,640 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,789,447 (GRCm39) |
N503K |
probably benign |
Het |
| Ppp2r2b |
A |
G |
18: 42,871,101 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,937 (GRCm39) |
N114K |
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,972,869 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
A |
G |
9: 106,762,218 (GRCm39) |
S138P |
unknown |
Het |
| Slc4a5 |
C |
T |
6: 83,262,812 (GRCm39) |
T768I |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,446,044 (GRCm39) |
N137K |
probably damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,632 (GRCm39) |
E46V |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,773 (GRCm39) |
S772G |
possibly damaging |
Het |
| Spidr |
G |
T |
16: 15,730,556 (GRCm39) |
R650S |
possibly damaging |
Het |
| Stox1 |
A |
G |
10: 62,501,352 (GRCm39) |
S403P |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,561 (GRCm39) |
K1496E |
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,576,791 (GRCm39) |
V1031A |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,719,821 (GRCm39) |
I394T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,277,727 (GRCm39) |
F2286I |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,396 (GRCm39) |
V513A |
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 |
|
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 |
|
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'- TGGTCCATGACACCAATTGCC -3'
(R):5'- TCCTTTGCAGAATCTACCACTG -3'
Sequencing Primer
(F):5'- TTGCCAATACCCAGAACGCTAG -3'
(R):5'- AAAATAGCATCCCTTCTCTTCCAGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation