Incidental Mutation 'R1386:Afdn'
ID |
162385 |
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 |
039448-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1386 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14066798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 630
(V630A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
AlphaFold |
Q9QZQ1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137495
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137503
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137708
AA Change: V645A
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114485 Gene: ENSMUSG00000068036 AA Change: V645A
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: V645A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036 AA Change: V645A
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: V645A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036 AA Change: V645A
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: V630A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036 AA Change: V630A
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: V630A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036 AA Change: V630A
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: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.0%
|
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: 103 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,135,081 (GRCm39) |
I235V |
probably benign |
Het |
Acsm4 |
T |
C |
7: 119,297,801 (GRCm39) |
I146T |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,676,984 (GRCm39) |
N1949S |
probably benign |
Het |
Amfr |
A |
G |
8: 94,712,027 (GRCm39) |
V301A |
possibly damaging |
Het |
Anapc16 |
T |
C |
10: 59,832,279 (GRCm39) |
M45V |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,290,375 (GRCm39) |
E1686G |
possibly damaging |
Het |
Ap2m1 |
T |
G |
16: 20,359,979 (GRCm39) |
H193Q |
probably damaging |
Het |
Aplnr |
T |
C |
2: 84,967,805 (GRCm39) |
W277R |
possibly damaging |
Het |
Aspm |
C |
T |
1: 139,406,710 (GRCm39) |
H1866Y |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,385,361 (GRCm39) |
E335G |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,220,664 (GRCm39) |
D578V |
probably benign |
Het |
Ccr1 |
T |
A |
9: 123,763,999 (GRCm39) |
E177V |
probably benign |
Het |
Cecr2 |
A |
G |
6: 120,739,092 (GRCm39) |
E1245G |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,103,255 (GRCm39) |
C638S |
probably benign |
Het |
Ces1b |
A |
T |
8: 93,794,705 (GRCm39) |
I298N |
probably benign |
Het |
Cfap47 |
C |
T |
X: 78,553,507 (GRCm39) |
V323I |
possibly damaging |
Het |
Chdh |
T |
A |
14: 29,753,391 (GRCm39) |
L100Q |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,120,312 (GRCm39) |
I156T |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,234,170 (GRCm39) |
R605Q |
probably null |
Het |
Cnga1 |
T |
A |
5: 72,769,526 (GRCm39) |
K135* |
probably null |
Het |
Col6a4 |
A |
T |
9: 105,940,144 (GRCm39) |
V1262E |
probably benign |
Het |
Cracr2b |
T |
C |
7: 141,043,481 (GRCm39) |
L53P |
probably damaging |
Het |
Crhr1 |
T |
C |
11: 104,065,220 (GRCm39) |
S372P |
possibly damaging |
Het |
Cyp11b2 |
T |
A |
15: 74,723,624 (GRCm39) |
|
probably null |
Het |
Cyp21a1 |
T |
A |
17: 35,021,184 (GRCm39) |
D373V |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ddah1 |
A |
T |
3: 145,594,966 (GRCm39) |
Y242F |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,088,719 (GRCm39) |
D105G |
possibly damaging |
Het |
Dtl |
A |
G |
1: 191,301,829 (GRCm39) |
V76A |
probably damaging |
Het |
Dzank1 |
A |
G |
2: 144,333,751 (GRCm39) |
S361P |
probably benign |
Het |
Ehd3 |
T |
A |
17: 74,127,538 (GRCm39) |
I157N |
probably damaging |
Het |
Elk4 |
T |
C |
1: 131,945,568 (GRCm39) |
F149L |
probably damaging |
Het |
Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
Fam83a |
A |
G |
15: 57,849,899 (GRCm39) |
R148G |
probably damaging |
Het |
Farp2 |
C |
A |
1: 93,547,873 (GRCm39) |
|
probably null |
Het |
Fbxw25 |
T |
A |
9: 109,483,709 (GRCm39) |
I168F |
possibly damaging |
Het |
Fermt1 |
T |
C |
2: 132,757,978 (GRCm39) |
D479G |
probably damaging |
Het |
Fgf17 |
C |
A |
14: 70,874,210 (GRCm39) |
R193L |
probably damaging |
Het |
Foxred2 |
T |
G |
15: 77,832,721 (GRCm39) |
|
probably null |
Het |
Gad1 |
T |
C |
2: 70,404,467 (GRCm39) |
V119A |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,250,215 (GRCm39) |
V301A |
possibly damaging |
Het |
Gimap8 |
G |
A |
6: 48,633,587 (GRCm39) |
V469I |
probably benign |
Het |
Gja1 |
A |
T |
10: 56,264,065 (GRCm39) |
E141D |
probably benign |
Het |
Glod4 |
C |
T |
11: 76,112,829 (GRCm39) |
W268* |
probably null |
Het |
Guf1 |
C |
T |
5: 69,720,505 (GRCm39) |
H309Y |
probably benign |
Het |
Hax1 |
A |
G |
3: 89,903,156 (GRCm39) |
V215A |
probably damaging |
Het |
Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
Hephl1 |
T |
A |
9: 14,988,050 (GRCm39) |
Y686F |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,843 (GRCm39) |
|
probably null |
Het |
Ikbkb |
G |
T |
8: 23,155,633 (GRCm39) |
Q620K |
possibly damaging |
Het |
Il18rap |
C |
T |
1: 40,570,682 (GRCm39) |
A208V |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,209 (GRCm39) |
S1102P |
probably benign |
Het |
Kif5b |
A |
T |
18: 6,226,383 (GRCm39) |
D147E |
probably damaging |
Het |
Klhl3 |
T |
C |
13: 58,178,247 (GRCm39) |
T348A |
probably damaging |
Het |
Krt10 |
T |
C |
11: 99,276,746 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,610,427 (GRCm39) |
H1124L |
probably benign |
Het |
Lin7a |
A |
T |
10: 107,247,983 (GRCm39) |
Q96L |
unknown |
Het |
Ly6c2 |
T |
G |
15: 74,982,438 (GRCm39) |
I37L |
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,895,589 (GRCm39) |
Y585C |
possibly damaging |
Het |
Msr1 |
G |
A |
8: 40,042,334 (GRCm39) |
Q414* |
probably null |
Het |
Myh13 |
T |
C |
11: 67,261,776 (GRCm39) |
C1900R |
possibly damaging |
Het |
Obscn |
T |
A |
11: 59,024,679 (GRCm39) |
N454Y |
probably damaging |
Het |
Olfml2b |
T |
G |
1: 170,508,731 (GRCm39) |
Y530D |
probably damaging |
Het |
Or1ad1 |
T |
C |
11: 50,876,194 (GRCm39) |
F222S |
probably damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,697 (GRCm39) |
F249L |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,574 (GRCm39) |
H90L |
probably benign |
Het |
Or5b24 |
A |
T |
19: 12,912,503 (GRCm39) |
T134S |
probably benign |
Het |
Or7e174 |
T |
A |
9: 20,012,878 (GRCm39) |
N274K |
probably benign |
Het |
Or8j3b |
A |
G |
2: 86,205,265 (GRCm39) |
F164L |
probably damaging |
Het |
Pde10a |
T |
G |
17: 9,172,574 (GRCm39) |
V648G |
probably damaging |
Het |
Pde7b |
T |
A |
10: 20,294,547 (GRCm39) |
H258L |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,946,080 (GRCm39) |
V582A |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,930,091 (GRCm39) |
S316P |
probably benign |
Het |
Pmpca |
C |
T |
2: 26,282,530 (GRCm39) |
T246I |
probably damaging |
Het |
Reep3 |
A |
T |
10: 66,898,788 (GRCm39) |
V32D |
possibly damaging |
Het |
Rfx4 |
A |
G |
10: 84,699,149 (GRCm39) |
M252V |
probably damaging |
Het |
Rnf168 |
C |
A |
16: 32,117,781 (GRCm39) |
D447E |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,834,221 (GRCm39) |
V518A |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,407,433 (GRCm39) |
L340* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,085 (GRCm39) |
E437G |
probably damaging |
Het |
Scnn1b |
C |
A |
7: 121,501,711 (GRCm39) |
N175K |
possibly damaging |
Het |
Slc39a11 |
T |
A |
11: 113,138,550 (GRCm39) |
I344F |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,758,178 (GRCm39) |
L239Q |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,262,978 (GRCm39) |
F794L |
probably damaging |
Het |
Smim13 |
C |
T |
13: 41,426,168 (GRCm39) |
S68L |
possibly damaging |
Het |
Sos2 |
A |
T |
12: 69,661,432 (GRCm39) |
Y680N |
probably damaging |
Het |
Spag6 |
T |
A |
2: 18,739,057 (GRCm39) |
M329K |
possibly damaging |
Het |
Spire2 |
G |
A |
8: 124,088,105 (GRCm39) |
|
probably null |
Het |
Tdrd9 |
T |
A |
12: 112,011,238 (GRCm39) |
V1149D |
probably benign |
Het |
Tns3 |
T |
A |
11: 8,468,261 (GRCm39) |
Y321F |
probably benign |
Het |
Top3b |
T |
C |
16: 16,698,493 (GRCm39) |
V112A |
probably benign |
Het |
Trafd1 |
G |
A |
5: 121,517,715 (GRCm39) |
T26I |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,564,615 (GRCm39) |
L20S |
unknown |
Het |
Vmn2r82 |
A |
T |
10: 79,214,545 (GRCm39) |
D176V |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,923,458 (GRCm39) |
F3778L |
probably damaging |
Het |
Vwa3b |
T |
C |
1: 37,090,962 (GRCm39) |
|
probably null |
Het |
Vwc2 |
C |
T |
11: 11,104,262 (GRCm39) |
P265S |
probably damaging |
Het |
Zbtb9 |
T |
A |
17: 27,193,612 (GRCm39) |
I339N |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,740,161 (GRCm39) |
T764A |
probably benign |
Het |
Zfp366 |
T |
A |
13: 99,383,063 (GRCm39) |
V742D |
probably damaging |
Het |
Zfp709 |
A |
T |
8: 72,644,506 (GRCm39) |
Y645F |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,150,548 (GRCm39) |
C424S |
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 |
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'- ACTGATACTGCCTGCCAGCATTG -3'
(R):5'- GCTGCACACACCAGAATGCAGATG -3'
Sequencing Primer
(F):5'- TCAGGGAAAGCTGTAAGTGATTTTAG -3'
(R):5'- CTTGTCACCAGATCAGAAGTGTC -3'
|
Posted On |
2014-03-17 |