Incidental Mutation 'R8039:Afdn'
ID |
618443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afdn
|
Ensembl Gene |
ENSMUSG00000068036 |
Gene Name |
afadin, adherens junction formation factor |
Synonyms |
Mllt4, AF6, S-afadin, Afadin, I-afadin, 5033403D15Rik |
MMRRC Submission |
067476-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14119403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1713
(L1713P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
AlphaFold |
Q9QZQ1 |
PDB Structure |
Solution structure of the FHA domain of mouse Afadin 6 [SOLUTION NMR]
Solution Structure of Ras-binding Domain in Mouse AF-6 Protein [SOLUTION NMR]
Crystal structure of afadin PDZ domain in complex with the C-terminal peptide from nectin-3 [X-RAY DIFFRACTION]
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116711 Gene: ENSMUSG00000068036 AA Change: L272P
Domain | Start | End | E-Value | Type |
coiled coil region
|
70 |
110 |
N/A |
INTRINSIC |
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
coiled coil region
|
163 |
224 |
N/A |
INTRINSIC |
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137708
|
SMART Domains |
Protein: ENSMUSP00000114485 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
425 |
477 |
1.24e-5 |
SMART |
DIL
|
785 |
891 |
4.11e-39 |
SMART |
PDZ
|
1016 |
1093 |
8.07e-19 |
SMART |
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1392 |
N/A |
INTRINSIC |
coiled coil region
|
1409 |
1447 |
N/A |
INTRINSIC |
coiled coil region
|
1523 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1587 |
N/A |
INTRINSIC |
coiled coil region
|
1616 |
1660 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137784
AA Change: L1720P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036 AA Change: L1720P
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
425 |
477 |
1.24e-5 |
SMART |
DIL
|
792 |
898 |
4.11e-39 |
SMART |
PDZ
|
1023 |
1100 |
8.07e-19 |
SMART |
low complexity region
|
1316 |
1325 |
N/A |
INTRINSIC |
low complexity region
|
1393 |
1399 |
N/A |
INTRINSIC |
coiled coil region
|
1416 |
1454 |
N/A |
INTRINSIC |
coiled coil region
|
1530 |
1570 |
N/A |
INTRINSIC |
low complexity region
|
1582 |
1594 |
N/A |
INTRINSIC |
coiled coil region
|
1600 |
1672 |
N/A |
INTRINSIC |
low complexity region
|
1699 |
1713 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139666
AA Change: L1713P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036 AA Change: L1713P
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
425 |
477 |
1.24e-5 |
SMART |
DIL
|
785 |
891 |
4.11e-39 |
SMART |
PDZ
|
1016 |
1093 |
8.07e-19 |
SMART |
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1392 |
N/A |
INTRINSIC |
coiled coil region
|
1409 |
1447 |
N/A |
INTRINSIC |
coiled coil region
|
1523 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1587 |
N/A |
INTRINSIC |
coiled coil region
|
1593 |
1665 |
N/A |
INTRINSIC |
low complexity region
|
1692 |
1706 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150848
AA Change: L1698P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036 AA Change: L1698P
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
410 |
462 |
1.24e-5 |
SMART |
DIL
|
770 |
876 |
4.11e-39 |
SMART |
PDZ
|
1001 |
1078 |
8.07e-19 |
SMART |
low complexity region
|
1294 |
1303 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1377 |
N/A |
INTRINSIC |
coiled coil region
|
1394 |
1432 |
N/A |
INTRINSIC |
coiled coil region
|
1508 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1560 |
1572 |
N/A |
INTRINSIC |
coiled coil region
|
1578 |
1650 |
N/A |
INTRINSIC |
low complexity region
|
1677 |
1691 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170827
AA Change: L1698P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036 AA Change: L1698P
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
410 |
462 |
1.24e-5 |
SMART |
DIL
|
770 |
876 |
4.11e-39 |
SMART |
PDZ
|
1001 |
1078 |
8.07e-19 |
SMART |
low complexity region
|
1294 |
1303 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1377 |
N/A |
INTRINSIC |
coiled coil region
|
1394 |
1432 |
N/A |
INTRINSIC |
coiled coil region
|
1508 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1560 |
1572 |
N/A |
INTRINSIC |
coiled coil region
|
1578 |
1650 |
N/A |
INTRINSIC |
low complexity region
|
1677 |
1691 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] PHENOTYPE: Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,547,699 (GRCm39) |
H225R |
probably damaging |
Het |
Adgrb2 |
T |
A |
4: 129,916,061 (GRCm39) |
L1451Q |
probably damaging |
Het |
Agr2 |
A |
T |
12: 36,045,558 (GRCm39) |
I15F |
probably benign |
Het |
Agrn |
T |
C |
4: 156,253,468 (GRCm39) |
T1808A |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,188,459 (GRCm39) |
I1958V |
probably benign |
Het |
Ankrd60 |
C |
A |
2: 173,414,284 (GRCm39) |
|
probably null |
Het |
Anpep |
A |
G |
7: 79,489,148 (GRCm39) |
|
probably null |
Het |
Apoa4 |
A |
T |
9: 46,153,591 (GRCm39) |
D64V |
possibly damaging |
Het |
Arhgef26 |
C |
A |
3: 62,247,351 (GRCm39) |
T145N |
probably benign |
Het |
Art1 |
A |
T |
7: 101,756,052 (GRCm39) |
Q81L |
probably benign |
Het |
Astl |
A |
T |
2: 127,185,903 (GRCm39) |
S71C |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,047,977 (GRCm39) |
I611T |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,997,363 (GRCm39) |
V1140E |
probably benign |
Het |
Cacna2d2 |
T |
A |
9: 107,404,632 (GRCm39) |
V1139D |
possibly damaging |
Het |
Castor1 |
G |
T |
11: 4,171,639 (GRCm39) |
A288S |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,905,112 (GRCm39) |
K198* |
probably null |
Het |
Ckmt2 |
G |
A |
13: 92,011,431 (GRCm39) |
H60Y |
possibly damaging |
Het |
Coq7 |
G |
C |
7: 118,132,469 (GRCm39) |
S2R |
possibly damaging |
Het |
Cspp1 |
T |
A |
1: 10,183,238 (GRCm39) |
D814E |
probably benign |
Het |
Cyp2c54 |
CCTCTTTCATAGCTCT |
CCTCT |
19: 40,062,176 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,771,566 (GRCm39) |
G860V |
probably damaging |
Het |
Ecm2 |
A |
T |
13: 49,668,326 (GRCm39) |
I10F |
probably benign |
Het |
Epb41l1 |
A |
T |
2: 156,348,332 (GRCm39) |
D312V |
probably damaging |
Het |
Epsti1 |
G |
A |
14: 78,168,741 (GRCm39) |
R126H |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,750,626 (GRCm39) |
Y367* |
probably null |
Het |
Erh |
T |
A |
12: 80,684,352 (GRCm39) |
R42W |
probably damaging |
Het |
Fam124a |
C |
T |
14: 62,843,325 (GRCm39) |
Q278* |
probably null |
Het |
Fbxo3 |
T |
A |
2: 103,885,286 (GRCm39) |
L385Q |
probably damaging |
Het |
Fbxo31 |
T |
A |
8: 122,285,794 (GRCm39) |
T219S |
probably damaging |
Het |
Fstl5 |
T |
G |
3: 76,555,725 (GRCm39) |
V534G |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,323,925 (GRCm39) |
I577F |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,198,783 (GRCm39) |
L44* |
probably null |
Het |
Gck |
C |
T |
11: 5,860,301 (GRCm39) |
A114T |
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,284,688 (GRCm39) |
V537A |
possibly damaging |
Het |
Iqcm |
C |
A |
8: 76,489,733 (GRCm39) |
H400Q |
probably damaging |
Het |
Iqcn |
T |
C |
8: 71,163,555 (GRCm39) |
V916A |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,363,589 (GRCm39) |
L737P |
probably damaging |
Het |
Jakmip1 |
A |
G |
5: 37,258,116 (GRCm39) |
E254G |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,836,490 (GRCm39) |
R1095W |
possibly damaging |
Het |
Klhdc8a |
G |
A |
1: 132,230,846 (GRCm39) |
R237Q |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,186,258 (GRCm39) |
E157G |
probably benign |
Het |
Klrk1 |
T |
A |
6: 129,589,786 (GRCm39) |
N221I |
probably benign |
Het |
Lhx8 |
A |
T |
3: 154,012,576 (GRCm39) |
H345Q |
probably damaging |
Het |
Lims1 |
T |
A |
10: 58,245,494 (GRCm39) |
N174K |
probably benign |
Het |
Madd |
T |
A |
2: 90,997,406 (GRCm39) |
Q754L |
probably benign |
Het |
Mau2 |
T |
C |
8: 70,472,440 (GRCm39) |
D581G |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,982,393 (GRCm39) |
I561N |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mob3c |
T |
C |
4: 115,688,884 (GRCm39) |
V139A |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nalf1 |
T |
C |
8: 9,257,892 (GRCm39) |
T419A |
probably benign |
Het |
Ncapd2 |
C |
T |
6: 125,157,989 (GRCm39) |
V380I |
probably damaging |
Het |
Nes |
G |
A |
3: 87,884,315 (GRCm39) |
R858K |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,909,162 (GRCm39) |
S791P |
probably benign |
Het |
Nup210 |
T |
C |
6: 91,047,215 (GRCm39) |
T496A |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or4c100 |
C |
T |
2: 88,356,215 (GRCm39) |
T96I |
probably benign |
Het |
Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
Or8b50 |
T |
A |
9: 38,518,685 (GRCm39) |
M308K |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,883,339 (GRCm39) |
S105T |
probably benign |
Het |
Pbld2 |
T |
A |
10: 62,883,771 (GRCm39) |
C79S |
probably damaging |
Het |
Pik3cd |
T |
A |
4: 149,744,323 (GRCm39) |
M143L |
possibly damaging |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
Ppp1r11 |
T |
C |
17: 37,262,338 (GRCm39) |
T21A |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,393,368 (GRCm39) |
I1664N |
possibly damaging |
Het |
Prr29 |
C |
T |
11: 106,267,738 (GRCm39) |
A161V |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,638,931 (GRCm39) |
D292G |
probably damaging |
Het |
Rnf25 |
T |
C |
1: 74,633,123 (GRCm39) |
T411A |
probably damaging |
Het |
Rraga |
C |
T |
4: 86,494,217 (GRCm39) |
T21I |
probably damaging |
Het |
Setdb2 |
T |
A |
14: 59,639,824 (GRCm39) |
Y673F |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,117,787 (GRCm39) |
T183I |
probably damaging |
Het |
Shank3 |
A |
T |
15: 89,389,642 (GRCm39) |
H413L |
probably damaging |
Het |
Slc30a5 |
A |
G |
13: 100,950,189 (GRCm39) |
|
probably null |
Het |
Slc6a18 |
T |
C |
13: 73,813,745 (GRCm39) |
S523G |
probably benign |
Het |
Spaca1 |
C |
T |
4: 34,044,207 (GRCm39) |
V96I |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,378 (GRCm39) |
A695T |
probably benign |
Het |
Tnrc18 |
C |
A |
5: 142,717,807 (GRCm39) |
G2216C |
unknown |
Het |
Trak2 |
T |
C |
1: 58,985,447 (GRCm39) |
N17S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,708,776 (GRCm39) |
N8792I |
unknown |
Het |
Ttyh1 |
T |
C |
7: 4,125,540 (GRCm39) |
V64A |
probably benign |
Het |
Usb1 |
T |
A |
8: 96,060,041 (GRCm39) |
S50R |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,689,570 (GRCm39) |
I5044N |
probably damaging |
Het |
Vmn1r84 |
A |
T |
7: 12,095,935 (GRCm39) |
F253I |
possibly damaging |
Het |
Vmn2r99 |
T |
C |
17: 19,600,302 (GRCm39) |
I442T |
probably benign |
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
|
Other mutations in Afdn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Afdn
|
APN |
17 |
14,104,890 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00784:Afdn
|
APN |
17 |
14,069,525 (GRCm39) |
splice site |
probably benign |
|
IGL00971:Afdn
|
APN |
17 |
14,072,575 (GRCm39) |
splice site |
probably benign |
|
IGL01403:Afdn
|
APN |
17 |
14,124,132 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01944:Afdn
|
APN |
17 |
14,030,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02474:Afdn
|
APN |
17 |
14,038,491 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02615:Afdn
|
APN |
17 |
14,046,238 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02664:Afdn
|
APN |
17 |
14,072,728 (GRCm39) |
splice site |
probably benign |
|
IGL03036:Afdn
|
APN |
17 |
14,108,350 (GRCm39) |
missense |
probably benign |
0.12 |
jubilee
|
UTSW |
17 |
14,108,248 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03134:Afdn
|
UTSW |
17 |
14,066,548 (GRCm39) |
missense |
probably benign |
0.04 |
R0112:Afdn
|
UTSW |
17 |
14,104,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Afdn
|
UTSW |
17 |
14,119,408 (GRCm39) |
missense |
probably benign |
0.00 |
R0305:Afdn
|
UTSW |
17 |
14,108,776 (GRCm39) |
splice site |
probably null |
|
R0310:Afdn
|
UTSW |
17 |
14,105,770 (GRCm39) |
critical splice donor site |
probably null |
|
R0711:Afdn
|
UTSW |
17 |
14,072,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0828:Afdn
|
UTSW |
17 |
14,124,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1268:Afdn
|
UTSW |
17 |
14,108,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1317:Afdn
|
UTSW |
17 |
14,066,535 (GRCm39) |
missense |
probably benign |
0.11 |
R1386:Afdn
|
UTSW |
17 |
14,066,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1438:Afdn
|
UTSW |
17 |
14,075,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Afdn
|
UTSW |
17 |
14,030,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Afdn
|
UTSW |
17 |
14,071,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Afdn
|
UTSW |
17 |
14,101,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R1880:Afdn
|
UTSW |
17 |
14,072,615 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2049:Afdn
|
UTSW |
17 |
14,030,695 (GRCm39) |
missense |
probably damaging |
0.96 |
R2140:Afdn
|
UTSW |
17 |
14,030,695 (GRCm39) |
missense |
probably damaging |
0.96 |
R2142:Afdn
|
UTSW |
17 |
14,030,695 (GRCm39) |
missense |
probably damaging |
0.96 |
R2162:Afdn
|
UTSW |
17 |
14,116,436 (GRCm39) |
missense |
probably benign |
0.01 |
R2221:Afdn
|
UTSW |
17 |
14,103,999 (GRCm39) |
splice site |
probably benign |
|
R2223:Afdn
|
UTSW |
17 |
14,103,999 (GRCm39) |
splice site |
probably benign |
|
R2291:Afdn
|
UTSW |
17 |
14,109,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R2993:Afdn
|
UTSW |
17 |
14,111,262 (GRCm39) |
critical splice donor site |
probably null |
|
R3402:Afdn
|
UTSW |
17 |
14,104,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R3403:Afdn
|
UTSW |
17 |
14,104,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R3690:Afdn
|
UTSW |
17 |
14,108,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R3691:Afdn
|
UTSW |
17 |
14,108,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R3764:Afdn
|
UTSW |
17 |
14,066,851 (GRCm39) |
missense |
probably benign |
0.07 |
R3832:Afdn
|
UTSW |
17 |
14,116,436 (GRCm39) |
missense |
probably benign |
0.01 |
R4002:Afdn
|
UTSW |
17 |
14,104,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R4440:Afdn
|
UTSW |
17 |
14,071,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4621:Afdn
|
UTSW |
17 |
14,109,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Afdn
|
UTSW |
17 |
14,111,228 (GRCm39) |
missense |
probably benign |
0.30 |
R5279:Afdn
|
UTSW |
17 |
14,109,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R5421:Afdn
|
UTSW |
17 |
14,052,668 (GRCm39) |
missense |
probably benign |
0.25 |
R5689:Afdn
|
UTSW |
17 |
14,075,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Afdn
|
UTSW |
17 |
14,030,707 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6369:Afdn
|
UTSW |
17 |
14,055,605 (GRCm39) |
nonsense |
probably null |
|
R6433:Afdn
|
UTSW |
17 |
14,101,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Afdn
|
UTSW |
17 |
14,024,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6500:Afdn
|
UTSW |
17 |
14,042,634 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6564:Afdn
|
UTSW |
17 |
14,116,351 (GRCm39) |
missense |
probably benign |
|
R6705:Afdn
|
UTSW |
17 |
14,108,283 (GRCm39) |
missense |
probably benign |
0.01 |
R6733:Afdn
|
UTSW |
17 |
14,043,615 (GRCm39) |
missense |
probably benign |
0.39 |
R6983:Afdn
|
UTSW |
17 |
14,101,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:Afdn
|
UTSW |
17 |
14,111,074 (GRCm39) |
splice site |
probably null |
|
R7161:Afdn
|
UTSW |
17 |
14,109,208 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7175:Afdn
|
UTSW |
17 |
14,108,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Afdn
|
UTSW |
17 |
14,068,638 (GRCm39) |
critical splice donor site |
probably null |
|
R7567:Afdn
|
UTSW |
17 |
14,109,070 (GRCm39) |
missense |
probably benign |
0.19 |
R7581:Afdn
|
UTSW |
17 |
14,069,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R7694:Afdn
|
UTSW |
17 |
14,109,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R7722:Afdn
|
UTSW |
17 |
14,029,231 (GRCm39) |
missense |
probably benign |
0.40 |
R7794:Afdn
|
UTSW |
17 |
14,102,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8444:Afdn
|
UTSW |
17 |
14,104,062 (GRCm39) |
missense |
probably benign |
0.31 |
R8694:Afdn
|
UTSW |
17 |
14,108,641 (GRCm39) |
missense |
probably benign |
|
R8728:Afdn
|
UTSW |
17 |
14,119,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R8770:Afdn
|
UTSW |
17 |
14,104,199 (GRCm39) |
critical splice donor site |
probably null |
|
R8887:Afdn
|
UTSW |
17 |
14,116,401 (GRCm39) |
nonsense |
probably null |
|
R9101:Afdn
|
UTSW |
17 |
14,043,706 (GRCm39) |
missense |
probably damaging |
0.99 |
R9169:Afdn
|
UTSW |
17 |
14,072,627 (GRCm39) |
missense |
probably benign |
0.02 |
R9275:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9276:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9278:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9573:Afdn
|
UTSW |
17 |
14,050,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R9619:Afdn
|
UTSW |
17 |
14,101,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Afdn
|
UTSW |
17 |
14,066,782 (GRCm39) |
missense |
probably benign |
0.00 |
R9797:Afdn
|
UTSW |
17 |
14,066,562 (GRCm39) |
missense |
probably benign |
|
X0060:Afdn
|
UTSW |
17 |
14,038,432 (GRCm39) |
nonsense |
probably null |
|
X0064:Afdn
|
UTSW |
17 |
14,108,289 (GRCm39) |
missense |
possibly damaging |
0.60 |
Z1088:Afdn
|
UTSW |
17 |
14,104,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTACAGCCGCCTAGAAGCTG -3'
(R):5'- ACGGTACAGGCTTGGTTTGC -3'
Sequencing Primer
(F):5'- CTAGAAGCTGAGAGGCGCC -3'
(R):5'- GGGAGATGCCATCCGAGG -3'
|
Posted On |
2020-01-23 |