Incidental Mutation 'R7741:Afap1l2'
| ID |
596578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1l2
|
| Ensembl Gene |
ENSMUSG00000025083 |
| Gene Name |
actin filament associated protein 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
045797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R7741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56902914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 755
(D755G)
|
| 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: D755G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: D755G
| 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: D737G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: D737G
| 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: D681G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: D681G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,290,551 (GRCm39) |
P118S |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,656,343 (GRCm39) |
D215E |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,194,332 (GRCm39) |
D109V |
possibly damaging |
Het |
| Brdt |
G |
A |
5: 107,506,752 (GRCm39) |
R445H |
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,307,288 (GRCm39) |
E517* |
probably null |
Het |
| Celsr1 |
A |
T |
15: 85,863,303 (GRCm39) |
V1243E |
possibly damaging |
Het |
| Cenpe |
C |
G |
3: 134,953,096 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,778,817 (GRCm39) |
E748G |
probably damaging |
Het |
| Cfap119 |
C |
A |
7: 127,187,159 (GRCm39) |
V35L |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Col6a1 |
C |
A |
10: 76,545,743 (GRCm39) |
A910S |
unknown |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Dot1l |
C |
T |
10: 80,619,378 (GRCm39) |
R412W |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,594 (GRCm39) |
T555A |
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,587 (GRCm39) |
N438S |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,001 (GRCm39) |
F320S |
probably damaging |
Het |
| Grn |
A |
G |
11: 102,326,560 (GRCm39) |
H413R |
probably damaging |
Het |
| Gstm7 |
A |
T |
3: 107,838,963 (GRCm39) |
M3K |
possibly damaging |
Het |
| Il17rd |
A |
G |
14: 26,822,293 (GRCm39) |
E673G |
probably damaging |
Het |
| Klhl29 |
T |
C |
12: 5,187,500 (GRCm39) |
D288G |
possibly damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,426,421 (GRCm39) |
A79T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,719,359 (GRCm39) |
V3914A |
unknown |
Het |
| Map2k2 |
T |
C |
10: 80,956,877 (GRCm39) |
V307A |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,784,319 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,937,275 (GRCm39) |
E834G |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,764,501 (GRCm39) |
L213H |
probably damaging |
Het |
| Ogfod3 |
T |
G |
11: 121,074,362 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,423 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,614 (GRCm39) |
L68P |
probably damaging |
Het |
| Plscr4 |
A |
T |
9: 92,364,693 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
A |
G |
1: 165,703,444 (GRCm39) |
S749P |
probably damaging |
Het |
| Ppp4r3b |
T |
G |
11: 29,155,701 (GRCm39) |
L556V |
possibly damaging |
Het |
| Psd4 |
T |
G |
2: 24,291,108 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
T |
C |
4: 129,228,356 (GRCm39) |
D33G |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,557,067 (GRCm39) |
K439E |
probably benign |
Het |
| Scgb2b7 |
A |
G |
7: 31,404,454 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
A |
G |
12: 8,841,370 (GRCm39) |
D237G |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,357,593 (GRCm39) |
Y133C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,523,587 (GRCm39) |
|
probably null |
Het |
| Snx7 |
A |
G |
3: 117,632,488 (GRCm39) |
F201S |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,438 (GRCm39) |
V124I |
possibly damaging |
Het |
| Tbx20 |
A |
T |
9: 24,651,581 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,197,756 (GRCm39) |
N445I |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,709,263 (GRCm39) |
I31K |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,179,088 (GRCm39) |
V499E |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,500,743 (GRCm39) |
W258* |
probably null |
Het |
| Usp32 |
G |
T |
11: 84,878,107 (GRCm39) |
D1543E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,521 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,361,020 (GRCm39) |
S197P |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,971,835 (GRCm39) |
S497P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,008,637 (GRCm39) |
P201Q |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,157,847 (GRCm39) |
Q783R |
possibly 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 |
|
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 |
|
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'- CAAGGACTGGGTCAAATTACTATG -3'
(R):5'- CCCATTTAATGTGCACAGGGC -3'
Sequencing Primer
(F):5'- TGTATATAAAACCCACCTCTACCAC -3'
(R):5'- ATAGGAGCCCATGGACGTCATTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation