Incidental Mutation 'R2142:Afdn'
| ID |
236419 |
| 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 |
040145-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2142 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14030695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 202
(E202G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139347]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000156591]
[ENSMUST00000170827]
|
| AlphaFold |
Q9QZQ1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137495
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137708
AA Change: E201G
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: E201G
| 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 |
possibly damaging
Transcript: ENSMUST00000137784
AA Change: E201G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: E201G
| 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 |
possibly damaging
Transcript: ENSMUST00000139347
AA Change: E201G
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115250
Gene: ENSMUSG00000068036
AA Change: E201G
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
39 |
134 |
4.09e-28 |
SMART |
|
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139666
AA Change: E201G
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: E201G
| 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 benign
Transcript: ENSMUST00000150848
AA Change: E201G
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: E201G
| 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: ENSMUST00000156591
AA Change: E202G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122204
Gene: ENSMUSG00000068036
AA Change: E202G
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
39 |
134 |
4.09e-28 |
SMART |
|
coiled coil region
|
147 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170827
AA Change: E201G
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: E201G
| 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 |
|
| Meta Mutation Damage Score |
0.0783 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,523,957 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,107,290 (GRCm39) |
P640T |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,263,777 (GRCm39) |
V77I |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,764,156 (GRCm39) |
T129A |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,059,871 (GRCm39) |
K236* |
probably null |
Het |
| Baz1b |
G |
A |
5: 135,246,129 (GRCm39) |
R526H |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,647,910 (GRCm39) |
D207G |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,822,684 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
G |
T |
11: 49,061,453 (GRCm39) |
|
probably null |
Het |
| Cd55 |
C |
T |
1: 130,377,160 (GRCm39) |
V333I |
probably benign |
Het |
| Cdh8 |
C |
A |
8: 99,838,325 (GRCm39) |
C505F |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,151 (GRCm39) |
E697G |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,857,468 (GRCm39) |
I38F |
probably benign |
Het |
| Cfhr2 |
T |
G |
1: 139,758,893 (GRCm39) |
R52S |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,108,594 (GRCm39) |
F145S |
possibly damaging |
Het |
| Cnksr1 |
A |
G |
4: 133,956,939 (GRCm39) |
Y488H |
probably damaging |
Het |
| Cntrl |
CAGAG |
CAG |
2: 35,012,818 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,363,965 (GRCm39) |
H546R |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,037,780 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Dck |
T |
C |
5: 88,920,582 (GRCm39) |
C101R |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,596,490 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,307,830 (GRCm39) |
M3048K |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
| Efnb1 |
A |
G |
X: 98,191,123 (GRCm39) |
Y343C |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,163,861 (GRCm39) |
V496A |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,873 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
G |
2: 125,254,628 (GRCm39) |
T212P |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,381,609 (GRCm39) |
Y174C |
probably damaging |
Het |
| Gabarap |
C |
T |
11: 69,882,515 (GRCm39) |
|
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,667,198 (GRCm39) |
T307A |
probably benign |
Het |
| Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
| Glyatl3 |
T |
C |
17: 41,221,975 (GRCm39) |
D93G |
probably benign |
Het |
| Gm266 |
C |
T |
12: 111,451,615 (GRCm39) |
R197K |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,228,683 (GRCm39) |
R498H |
probably damaging |
Het |
| Gprasp1 |
G |
A |
X: 134,702,791 (GRCm39) |
E995K |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,177 (GRCm39) |
W335R |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,173 (GRCm39) |
E2379G |
probably benign |
Het |
| Hmx2 |
A |
T |
7: 131,157,588 (GRCm39) |
D234V |
probably damaging |
Het |
| Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
| Ipo9 |
CCT |
CCTTCT |
1: 135,314,020 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
TCC |
TCCGCC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
| Itpkc |
A |
G |
7: 26,919,075 (GRCm39) |
V397A |
possibly damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Kat5 |
T |
A |
19: 5,655,713 (GRCm39) |
|
probably null |
Het |
| Kctd16 |
A |
G |
18: 40,392,231 (GRCm39) |
E273G |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,129,083 (GRCm39) |
T188A |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,163,848 (GRCm39) |
N732K |
probably benign |
Het |
| Laptm4b |
G |
T |
15: 34,238,478 (GRCm39) |
M3I |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,248,895 (GRCm39) |
C7210Y |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,811,094 (GRCm39) |
N338S |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,008,095 (GRCm39) |
|
probably null |
Het |
| Micall1 |
T |
C |
15: 79,014,995 (GRCm39) |
Y751H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,321 (GRCm39) |
I2571T |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,339,903 (GRCm39) |
E20K |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,080,158 (GRCm39) |
E1124G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,714,194 (GRCm39) |
E87G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,561,648 (GRCm39) |
|
probably null |
Het |
| Nipa1 |
C |
A |
7: 55,647,259 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
A |
G |
5: 31,405,273 (GRCm39) |
E287G |
possibly damaging |
Het |
| Nup188 |
T |
A |
2: 30,226,718 (GRCm39) |
I1165N |
possibly damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
| Or14j4 |
T |
G |
17: 37,921,362 (GRCm39) |
E93D |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,666 (GRCm39) |
I39V |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4k48 |
C |
A |
2: 111,475,566 (GRCm39) |
V259L |
probably benign |
Het |
| Or51a10 |
C |
T |
7: 103,699,507 (GRCm39) |
G18D |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,616 (GRCm39) |
K312E |
probably benign |
Het |
| Or9g3 |
C |
T |
2: 85,590,021 (GRCm39) |
R233H |
probably benign |
Het |
| Panx3 |
G |
C |
9: 37,577,969 (GRCm39) |
S87W |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,031,422 (GRCm39) |
D430V |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,176 (GRCm39) |
N169D |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,406,645 (GRCm39) |
G605V |
probably damaging |
Het |
| Phkg2 |
G |
A |
7: 127,181,386 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,594,119 (GRCm39) |
K1331N |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,818,019 (GRCm39) |
V762M |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,374 (GRCm39) |
T1331A |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,750,043 (GRCm39) |
|
probably null |
Het |
| Prb1a |
T |
A |
6: 132,184,166 (GRCm39) |
Q489L |
unknown |
Het |
| Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,770,998 (GRCm39) |
Y782C |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,314,210 (GRCm39) |
|
probably null |
Het |
| Ren1 |
C |
G |
1: 133,278,516 (GRCm39) |
|
probably null |
Het |
| Rit2 |
A |
G |
18: 31,286,766 (GRCm39) |
F140L |
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
| Rorc |
G |
A |
3: 94,296,833 (GRCm39) |
R271Q |
probably benign |
Het |
| Sall3 |
A |
T |
18: 81,013,046 (GRCm39) |
M1130K |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,902,154 (GRCm39) |
E141G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,974,568 (GRCm39) |
D195G |
probably benign |
Het |
| Slitrk6 |
T |
G |
14: 110,988,226 (GRCm39) |
T494P |
probably benign |
Het |
| Tars3 |
A |
T |
7: 65,308,645 (GRCm39) |
I272L |
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,321 (GRCm39) |
K210R |
probably benign |
Het |
| Tdpoz3 |
C |
T |
3: 93,734,206 (GRCm39) |
H294Y |
probably benign |
Het |
| Tesl1 |
T |
A |
X: 23,773,549 (GRCm39) |
V350E |
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,670 (GRCm39) |
T196A |
possibly damaging |
Het |
| Treh |
G |
A |
9: 44,592,438 (GRCm39) |
M54I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,257 (GRCm39) |
A157V |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,204,518 (GRCm39) |
T4810M |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,907,178 (GRCm39) |
F167I |
probably damaging |
Het |
| Zfp281 |
GCGGCAGCTCCGGCAGC |
GCGGCAGCTCCGGCAGCTCCGGCAGC |
1: 136,553,091 (GRCm39) |
|
probably benign |
Het |
| Zfp473 |
T |
C |
7: 44,382,501 (GRCm39) |
T610A |
possibly damaging |
Het |
| Zfp606 |
T |
C |
7: 12,213,653 (GRCm39) |
I4T |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,963,578 (GRCm39) |
N1918K |
probably damaging |
Het |
| Zfp65 |
G |
T |
13: 67,856,311 (GRCm39) |
H333N |
probably 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 |
|
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 |
|
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'- TCATGAGCGCAAGACAGTTG -3'
(R):5'- TGCTATTAAAAGGCTACTTCACCC -3'
Sequencing Primer
(F):5'- CGCAAGACAGTTGAGATGTGTAATCC -3'
(R):5'- TTAAAAGGCTACTTCACCCACCTTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation