Incidental Mutation 'R0226:Afdn'
ID |
33964 |
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 |
038471-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0226 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14119408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1700
(T1700A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000170827]
[ENSMUST00000150848]
|
AlphaFold |
Q9QZQ1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133422
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137531
AA Change: T274A
|
SMART Domains |
Protein: ENSMUSP00000116711 Gene: ENSMUSG00000068036 AA Change: T274A
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 benign
Transcript: ENSMUST00000137784
AA Change: T1722A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036 AA Change: T1722A
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: T1715A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036 AA Change: T1715A
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: ENSMUST00000170827
AA Change: T1700A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036 AA Change: T1700A
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: ENSMUST00000150848
AA Change: T1700A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036 AA Change: T1700A
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 |
0.0614 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
100% (98/98) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
G |
T |
14: 59,379,569 (GRCm39) |
T54K |
possibly damaging |
Het |
2210408I21Rik |
A |
T |
13: 77,451,544 (GRCm39) |
E876V |
possibly damaging |
Het |
Aasdh |
A |
T |
5: 77,049,849 (GRCm39) |
L49Q |
probably damaging |
Het |
Abca8b |
T |
C |
11: 109,847,844 (GRCm39) |
|
probably null |
Het |
Ablim1 |
A |
T |
19: 57,032,302 (GRCm39) |
L556Q |
probably damaging |
Het |
Agl |
G |
A |
3: 116,545,720 (GRCm39) |
R1359C |
probably damaging |
Het |
Agpat3 |
T |
A |
10: 78,113,863 (GRCm39) |
H275L |
possibly damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,577,586 (GRCm39) |
C180* |
probably null |
Het |
Aim2 |
A |
G |
1: 173,289,899 (GRCm39) |
|
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,331,631 (GRCm39) |
N320S |
probably benign |
Het |
Ankrd52 |
T |
A |
10: 128,225,727 (GRCm39) |
|
probably null |
Het |
Ap1g1 |
C |
T |
8: 110,581,694 (GRCm39) |
S654L |
probably benign |
Het |
Bpifa1 |
T |
A |
2: 153,987,977 (GRCm39) |
S173R |
probably benign |
Het |
Brd8 |
T |
C |
18: 34,736,947 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
C1qtnf2 |
A |
G |
11: 43,381,670 (GRCm39) |
T161A |
probably benign |
Het |
Car6 |
T |
C |
4: 150,271,965 (GRCm39) |
Y228C |
probably damaging |
Het |
Ccdc149 |
A |
G |
5: 52,557,559 (GRCm39) |
L273P |
probably damaging |
Het |
Cit |
G |
A |
5: 116,122,899 (GRCm39) |
R1405Q |
probably damaging |
Het |
Cox17 |
T |
C |
16: 38,169,638 (GRCm39) |
L48P |
probably damaging |
Het |
Cttn |
A |
G |
7: 143,995,589 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,743,619 (GRCm39) |
|
probably benign |
Het |
Dtnbp1 |
A |
G |
13: 45,076,669 (GRCm39) |
L175P |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,342,219 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,162,830 (GRCm39) |
R2152Q |
possibly damaging |
Het |
Fignl1 |
A |
T |
11: 11,751,061 (GRCm39) |
S665T |
probably benign |
Het |
Gm9843 |
A |
T |
16: 76,200,449 (GRCm39) |
|
noncoding transcript |
Het |
Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
Greb1l |
T |
C |
18: 10,522,076 (GRCm39) |
|
probably benign |
Het |
Hdgfl1 |
A |
T |
13: 26,953,979 (GRCm39) |
H31Q |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,425,443 (GRCm39) |
S628P |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,005,456 (GRCm39) |
T685A |
probably benign |
Het |
Hmgcl |
T |
G |
4: 135,686,039 (GRCm39) |
V168G |
probably damaging |
Het |
Itch |
T |
C |
2: 155,041,314 (GRCm39) |
I454T |
probably benign |
Het |
Itih2 |
T |
C |
2: 10,120,110 (GRCm39) |
D309G |
possibly damaging |
Het |
Kcmf1 |
T |
C |
6: 72,819,935 (GRCm39) |
I304V |
probably benign |
Het |
Kcnh1 |
G |
A |
1: 191,959,112 (GRCm39) |
W222* |
probably null |
Het |
Kcnh1 |
G |
T |
1: 191,959,113 (GRCm39) |
W222C |
probably damaging |
Het |
Kif24 |
T |
A |
4: 41,414,939 (GRCm39) |
K287* |
probably null |
Het |
Lrig3 |
A |
G |
10: 125,807,986 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,367,907 (GRCm39) |
C202S |
probably null |
Het |
Lrrc37 |
A |
T |
11: 103,494,067 (GRCm39) |
F663L |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,865,558 (GRCm39) |
N208D |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,852,880 (GRCm39) |
T664I |
possibly damaging |
Het |
Mfsd10 |
A |
G |
5: 34,791,790 (GRCm39) |
L365S |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,697,849 (GRCm39) |
|
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,468,841 (GRCm39) |
V401A |
probably benign |
Het |
Mllt3 |
C |
A |
4: 87,758,969 (GRCm39) |
V360L |
probably benign |
Het |
Mrm1 |
G |
A |
11: 84,709,996 (GRCm39) |
A68V |
possibly damaging |
Het |
Myo19 |
A |
G |
11: 84,788,558 (GRCm39) |
|
probably benign |
Het |
Myo3b |
A |
G |
2: 70,047,510 (GRCm39) |
T311A |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,875,251 (GRCm39) |
F1552L |
probably benign |
Het |
Myo7b |
C |
T |
18: 32,105,949 (GRCm39) |
V1353I |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,806,476 (GRCm39) |
S1512P |
probably damaging |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Osbpl3 |
A |
G |
6: 50,329,988 (GRCm39) |
W63R |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,685,641 (GRCm39) |
S703P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,815,237 (GRCm39) |
I1231T |
probably damaging |
Het |
Pex16 |
A |
C |
2: 92,206,032 (GRCm39) |
|
probably benign |
Het |
Pfkl |
T |
C |
10: 77,828,368 (GRCm39) |
N399S |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,390,180 (GRCm39) |
R1432K |
possibly damaging |
Het |
Prdm1 |
T |
A |
10: 44,332,692 (GRCm39) |
T106S |
probably benign |
Het |
Prrc1 |
A |
G |
18: 57,496,363 (GRCm39) |
M105V |
probably benign |
Het |
Psg26 |
A |
G |
7: 18,217,883 (GRCm39) |
C12R |
possibly damaging |
Het |
Rnf43 |
A |
T |
11: 87,622,263 (GRCm39) |
S455C |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,787,442 (GRCm39) |
K977R |
probably damaging |
Het |
Sart1 |
C |
T |
19: 5,431,150 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,998,167 (GRCm39) |
S509G |
probably benign |
Het |
Sin3b |
A |
T |
8: 73,471,136 (GRCm39) |
E361V |
probably benign |
Het |
Slc35e3 |
C |
T |
10: 117,576,795 (GRCm39) |
E179K |
possibly damaging |
Het |
Sntb2 |
T |
C |
8: 107,728,215 (GRCm39) |
S388P |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,175 (GRCm39) |
S131P |
probably benign |
Het |
Sting1 |
A |
T |
18: 35,872,141 (GRCm39) |
F120L |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,742,442 (GRCm39) |
|
probably benign |
Het |
Taar2 |
T |
C |
10: 23,816,961 (GRCm39) |
V167A |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,321,899 (GRCm39) |
Y1516H |
possibly damaging |
Het |
Tlk1 |
T |
A |
2: 70,544,513 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,878,495 (GRCm39) |
K771R |
probably damaging |
Het |
Treml1 |
C |
T |
17: 48,667,486 (GRCm39) |
L124F |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,611,141 (GRCm39) |
Q9137K |
possibly damaging |
Het |
Unkl |
T |
A |
17: 25,449,685 (GRCm39) |
I469N |
probably damaging |
Het |
Vmn1r173 |
G |
T |
7: 23,402,508 (GRCm39) |
V248L |
possibly damaging |
Het |
Vps35 |
T |
C |
8: 86,000,204 (GRCm39) |
Q474R |
probably damaging |
Het |
Wdr17 |
T |
A |
8: 55,116,043 (GRCm39) |
T580S |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 52,998,583 (GRCm39) |
K222E |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,096,511 (GRCm39) |
T1446A |
probably benign |
Het |
Zfp277 |
A |
G |
12: 40,414,161 (GRCm39) |
L228S |
possibly damaging |
Het |
Zfp941 |
T |
A |
7: 140,393,188 (GRCm39) |
K57M |
probably damaging |
Het |
Zmpste24 |
A |
T |
4: 120,938,406 (GRCm39) |
S244R |
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 |
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 |
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'- TTACAGCCGCCTAGAAGCTGAGAG -3'
(R):5'- CCAAATGGCAGGGGTACAGAGATTC -3'
Sequencing Primer
(F):5'- ACTTCCACGGGACTATGAGC -3'
(R):5'- GAAAGGTCTGATTCACCATTCC -3'
|
Posted On |
2013-05-09 |