Incidental Mutation 'R8444:Afdn'
ID |
654413 |
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 |
067826-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8444 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14104062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 1133
(N1133Y)
|
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 |
probably benign
Transcript: ENSMUST00000137531
|
SMART Domains |
Protein: ENSMUSP00000116711 Gene: ENSMUSG00000068036
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
AA Change: N1133Y
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114485 Gene: ENSMUSG00000068036 AA Change: N1133Y
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 benign
Transcript: ENSMUST00000137784
AA Change: N1140Y
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036 AA Change: N1140Y
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 benign
Transcript: ENSMUST00000139666
AA Change: N1133Y
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036 AA Change: N1133Y
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 |
possibly damaging
Transcript: ENSMUST00000150848
AA Change: N1118Y
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036 AA Change: N1118Y
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 benign
Transcript: ENSMUST00000170827
AA Change: N1118Y
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036 AA Change: N1118Y
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: 99.7%
- 20x: 98.8%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010K14Rik |
G |
T |
11: 70,127,755 (GRCm39) |
R56S |
possibly damaging |
Het |
Abca14 |
T |
A |
7: 119,918,133 (GRCm39) |
I1545K |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,602,959 (GRCm39) |
Y518C |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,058,839 (GRCm39) |
V535A |
probably benign |
Het |
Adcy9 |
T |
C |
16: 4,106,487 (GRCm39) |
T1113A |
probably damaging |
Het |
Aip |
T |
A |
19: 4,166,034 (GRCm39) |
D139V |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Aldh16a1 |
G |
A |
7: 44,799,115 (GRCm39) |
P56S |
probably benign |
Het |
Alpk3 |
A |
C |
7: 80,707,468 (GRCm39) |
T31P |
probably benign |
Het |
Aoc3 |
G |
T |
11: 101,232,573 (GRCm39) |
R466S |
unknown |
Het |
Atoh1 |
T |
C |
6: 64,706,641 (GRCm39) |
L112P |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,770,772 (GRCm39) |
N424I |
probably benign |
Het |
Brms1 |
T |
C |
19: 5,091,520 (GRCm39) |
|
probably null |
Het |
Casc3 |
C |
T |
11: 98,713,607 (GRCm39) |
R280C |
probably damaging |
Het |
Cd34 |
T |
A |
1: 194,640,808 (GRCm39) |
S224R |
probably benign |
Het |
Cdh20 |
T |
A |
1: 104,898,583 (GRCm39) |
F437I |
probably benign |
Het |
Cdkal1 |
A |
T |
13: 29,510,087 (GRCm39) |
V557E |
probably benign |
Het |
Cfap276 |
A |
G |
3: 108,451,384 (GRCm39) |
H115R |
probably benign |
Het |
Chst5 |
T |
C |
8: 112,617,395 (GRCm39) |
H75R |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,435,305 (GRCm39) |
N713K |
probably benign |
Het |
Cpne5 |
A |
T |
17: 29,407,357 (GRCm39) |
M181K |
probably benign |
Het |
Cpt1a |
T |
C |
19: 3,431,981 (GRCm39) |
F731S |
probably benign |
Het |
Cyfip1 |
A |
G |
7: 55,521,902 (GRCm39) |
M69V |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,442,672 (GRCm39) |
K1232E |
probably benign |
Het |
Dennd4b |
A |
T |
3: 90,181,259 (GRCm39) |
H805L |
probably benign |
Het |
Dnm1l |
C |
T |
16: 16,158,906 (GRCm39) |
R108Q |
probably damaging |
Het |
Dsc1 |
T |
A |
18: 20,222,636 (GRCm39) |
D612V |
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,388,711 (GRCm39) |
G628R |
probably damaging |
Het |
Esrrb |
G |
A |
12: 86,552,595 (GRCm39) |
R195H |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,107,585 (GRCm39) |
E23D |
probably damaging |
Het |
Gja8 |
A |
G |
3: 96,826,990 (GRCm39) |
L224P |
probably damaging |
Het |
Hps6 |
T |
G |
19: 45,993,867 (GRCm39) |
S601R |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,752,495 (GRCm39) |
E1197G |
probably damaging |
Het |
Ifnar2 |
C |
A |
16: 91,200,857 (GRCm39) |
A366D |
possibly damaging |
Het |
Ighm |
A |
C |
12: 113,384,813 (GRCm39) |
S347A |
|
Het |
Immt |
C |
T |
6: 71,848,492 (GRCm39) |
R494* |
probably null |
Het |
Irs2 |
A |
G |
8: 11,056,683 (GRCm39) |
V583A |
probably damaging |
Het |
Kcnk4 |
T |
C |
19: 6,903,508 (GRCm39) |
E347G |
probably damaging |
Het |
Kif5b |
T |
A |
18: 6,213,245 (GRCm39) |
I716F |
probably benign |
Het |
Klhl1 |
T |
A |
14: 96,755,326 (GRCm39) |
D143V |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,760,272 (GRCm39) |
T2999A |
|
Het |
Map3k9 |
A |
G |
12: 81,768,970 (GRCm39) |
L1026P |
probably damaging |
Het |
Mtg1 |
T |
C |
7: 139,718,283 (GRCm39) |
V54A |
probably damaging |
Het |
Mx1 |
G |
T |
16: 97,252,687 (GRCm39) |
C231* |
probably null |
Het |
Odad4 |
G |
T |
11: 100,452,731 (GRCm39) |
|
probably null |
Het |
Or10ag59 |
G |
A |
2: 87,406,083 (GRCm39) |
M218I |
probably benign |
Het |
Or56a41 |
A |
G |
7: 104,740,165 (GRCm39) |
V227A |
probably damaging |
Het |
Or5p6 |
C |
A |
7: 107,631,070 (GRCm39) |
W160L |
probably benign |
Het |
Or5p79 |
A |
G |
7: 108,221,027 (GRCm39) |
I3V |
probably benign |
Het |
Or6c65 |
T |
A |
10: 129,603,794 (GRCm39) |
V143E |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,692,975 (GRCm39) |
E836D |
probably benign |
Het |
Pde6d |
A |
G |
1: 86,471,250 (GRCm39) |
S143P |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pon1 |
C |
T |
6: 5,177,327 (GRCm39) |
W194* |
probably null |
Het |
Rbm25 |
T |
A |
12: 83,711,025 (GRCm39) |
S379R |
unknown |
Het |
Rnf111 |
A |
T |
9: 70,365,223 (GRCm39) |
S415T |
probably benign |
Het |
Shoc2 |
A |
G |
19: 53,976,503 (GRCm39) |
Y131C |
probably damaging |
Het |
Slc23a1 |
T |
A |
18: 35,757,489 (GRCm39) |
M261L |
possibly damaging |
Het |
Slc34a1 |
A |
T |
13: 24,003,061 (GRCm39) |
H237L |
probably benign |
Het |
Slc35d1 |
G |
C |
4: 103,071,896 (GRCm39) |
I35M |
|
Het |
Slc8b1 |
C |
T |
5: 120,651,203 (GRCm39) |
|
probably benign |
Het |
Smr3a |
A |
C |
5: 88,152,611 (GRCm39) |
L8F |
unknown |
Het |
Snx8 |
G |
A |
5: 140,343,929 (GRCm39) |
R96C |
possibly damaging |
Het |
Srgap3 |
A |
G |
6: 112,752,509 (GRCm39) |
V325A |
possibly damaging |
Het |
Stk40 |
A |
G |
4: 126,012,127 (GRCm39) |
T10A |
probably benign |
Het |
Tmem177 |
A |
T |
1: 119,837,950 (GRCm39) |
V243D |
probably benign |
Het |
Trim6 |
G |
A |
7: 103,881,879 (GRCm39) |
V403M |
probably damaging |
Het |
Tysnd1 |
A |
G |
10: 61,531,950 (GRCm39) |
R201G |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,785,854 (GRCm39) |
F717Y |
probably benign |
Het |
Vmn2r72 |
A |
G |
7: 85,387,383 (GRCm39) |
V727A |
probably benign |
Het |
Wdr49 |
A |
C |
3: 75,358,997 (GRCm39) |
D43E |
probably benign |
Het |
Zbtb8b |
A |
G |
4: 129,326,424 (GRCm39) |
V247A |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,757,330 (GRCm39) |
A421E |
possibly damaging |
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 |
R8039:Afdn
|
UTSW |
17 |
14,119,403 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AAGTGTAGTACCTTTGAGGGC -3'
(R):5'- AGTACAGCATGCCCCATTGG -3'
Sequencing Primer
(F):5'- GTACCTTTAATGCCAGCACTGAGG -3'
(R):5'- CCCATTGGCTTCTGGAGGTAAAAAG -3'
|
Posted On |
2020-10-20 |