Incidental Mutation 'R8770:Afdn'
| ID |
664377 |
| 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 |
068625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 14104199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119153
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
|
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 null
Transcript: ENSMUST00000139666
|
| SMART Domains |
Protein: ENSMUSP00000118318
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
|
1593 |
1665 |
N/A |
INTRINSIC |
|
low complexity region
|
1692 |
1706 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150848
|
| SMART Domains |
Protein: ENSMUSP00000122447
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
|
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
|
| SMART Domains |
Protein: ENSMUSP00000128891
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
|
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: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,378,763 (GRCm39) |
K1004M |
probably benign |
Het |
| Atn1 |
C |
T |
6: 124,722,601 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
T |
C |
2: 126,184,915 (GRCm39) |
Y916C |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,420,448 (GRCm39) |
L766S |
probably damaging |
Het |
| Bmpr2 |
T |
G |
1: 59,884,684 (GRCm39) |
D223E |
probably benign |
Het |
| Bpifc |
T |
G |
10: 85,801,129 (GRCm39) |
R406S |
probably damaging |
Het |
| Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,006,926 (GRCm39) |
I607N |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,321,822 (GRCm39) |
Y235C |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,363,117 (GRCm39) |
Q163R |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,254,277 (GRCm39) |
M222L |
possibly damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,208 (GRCm39) |
V358A |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,420,945 (GRCm39) |
R492W |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,311,298 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,410 (GRCm39) |
I1880V |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,752,298 (GRCm39) |
T793A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,456,106 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 125,996,727 (GRCm39) |
T71A |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,274,938 (GRCm39) |
M19K |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,209,285 (GRCm39) |
F382L |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,046,596 (GRCm39) |
C455S |
probably benign |
Het |
| Fcmr |
T |
A |
1: 130,803,799 (GRCm39) |
V201E |
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gpr156 |
A |
G |
16: 37,824,974 (GRCm39) |
E397G |
possibly damaging |
Het |
| Gzmf |
A |
T |
14: 56,443,951 (GRCm39) |
V73D |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,145,976 (GRCm39) |
N84S |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,258,843 (GRCm39) |
V39A |
possibly damaging |
Het |
| Mlf2 |
C |
A |
6: 124,911,259 (GRCm39) |
H91Q |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,091,460 (GRCm39) |
E115V |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,171,481 (GRCm39) |
E494G |
unknown |
Het |
| Myo7b |
C |
T |
18: 32,114,124 (GRCm39) |
D1076N |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,887 (GRCm39) |
D53G |
probably damaging |
Het |
| Noc4l |
A |
G |
5: 110,796,758 (GRCm39) |
L508P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,025,850 (GRCm39) |
F157L |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,336 (GRCm39) |
Y959H |
probably damaging |
Het |
| Or13c7d |
T |
G |
4: 43,770,813 (GRCm39) |
N66T |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,171 (GRCm39) |
M96T |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,316,599 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Plb1 |
T |
C |
5: 32,404,853 (GRCm39) |
Y4H |
unknown |
Het |
| Rad21 |
A |
G |
15: 51,831,749 (GRCm39) |
I444T |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,943 (GRCm39) |
I459V |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,656,129 (GRCm39) |
T917A |
unknown |
Het |
| Sdc4 |
C |
T |
2: 164,270,822 (GRCm39) |
V146I |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,198 (GRCm39) |
S184G |
probably benign |
Het |
| Shkbp1 |
C |
A |
7: 27,051,311 (GRCm39) |
R218S |
possibly damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,039,607 (GRCm39) |
D255G |
|
Het |
| Slc7a2 |
T |
G |
8: 41,352,267 (GRCm39) |
V110G |
probably damaging |
Het |
| Slf1 |
A |
C |
13: 77,194,766 (GRCm39) |
V853G |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,029,718 (GRCm39) |
V102A |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,036,788 (GRCm39) |
K50R |
probably damaging |
Het |
| Spink10 |
A |
T |
18: 62,786,532 (GRCm39) |
R47S |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,451,206 (GRCm39) |
F2720Y |
probably null |
Het |
| Tdrkh |
T |
A |
3: 94,336,440 (GRCm39) |
V459D |
probably damaging |
Het |
| Tent5a |
A |
G |
9: 85,208,803 (GRCm39) |
Y7H |
probably benign |
Het |
| Tlcd2 |
T |
A |
11: 75,360,630 (GRCm39) |
D224E |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,230,304 (GRCm39) |
Q87L |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,838,186 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,789,961 (GRCm39) |
G378R |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,892 (GRCm39) |
Q2210K |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,934,435 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,050,675 (GRCm39) |
I238N |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,153,548 (GRCm39) |
D675E |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,795 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,417 (GRCm39) |
H656R |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,980 (GRCm39) |
Y323C |
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 |
|
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 |
|
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'- ATCGTCGTGGCTCAGGTAAAC -3'
(R):5'- ACCCCTGACACACTTTTGTAGAG -3'
Sequencing Primer
(F):5'- GTGGCTCAGGTAAACCCAGAC -3'
(R):5'- TGACACACTTTTGTAGAGACATTAAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation