Incidental Mutation 'R2291:Afdn'
| ID |
244387 |
| 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 |
040290-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2291 (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 14109153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1559
(K1559E)
|
| 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: ENSMUST00000124188
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137531
AA Change: K121E
|
| SMART Domains |
Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036
AA Change: K121E
| 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: K1574E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: K1574E
| 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: K1581E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: K1581E
| 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: K1574E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: K1574E
| 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: K1559E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: K1559E
| 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: K1559E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: K1559E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,207,450 (GRCm39) |
I247N |
probably damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,777,386 (GRCm39) |
T1523I |
probably benign |
Het |
| Apc |
T |
A |
18: 34,445,544 (GRCm39) |
N795K |
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 39,490,751 (GRCm39) |
|
probably benign |
Het |
| Atm |
C |
T |
9: 53,402,209 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
T |
C |
1: 172,072,473 (GRCm39) |
N394D |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
| Cacna1d |
G |
T |
14: 29,764,299 (GRCm39) |
R2078S |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,097,031 (GRCm39) |
V38E |
probably damaging |
Het |
| Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
| Ccr7 |
G |
A |
11: 99,036,161 (GRCm39) |
R254C |
probably damaging |
Het |
| Celf5 |
C |
T |
10: 81,302,881 (GRCm39) |
G267D |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,965,634 (GRCm39) |
P459S |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,498,599 (GRCm39) |
K267E |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,692,354 (GRCm39) |
Y331N |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,448 (GRCm39) |
T158I |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,960,833 (GRCm39) |
D430E |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,800,027 (GRCm39) |
V1597A |
probably damaging |
Het |
| Cstf2t |
T |
A |
19: 31,062,264 (GRCm39) |
L600H |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 126,884,163 (GRCm39) |
V5A |
possibly damaging |
Het |
| Depdc5 |
C |
A |
5: 33,136,746 (GRCm39) |
Q1339K |
probably damaging |
Het |
| Diaph3 |
G |
T |
14: 87,203,882 (GRCm39) |
P592Q |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,193,191 (GRCm39) |
|
probably null |
Het |
| Epha8 |
T |
C |
4: 136,660,658 (GRCm39) |
M687V |
probably damaging |
Het |
| Fhod1 |
T |
A |
8: 106,063,596 (GRCm39) |
|
probably benign |
Het |
| Gls2 |
C |
A |
10: 128,043,479 (GRCm39) |
S73* |
probably null |
Het |
| Gm3604 |
T |
A |
13: 62,519,657 (GRCm39) |
M33L |
probably damaging |
Het |
| Gpr39 |
A |
G |
1: 125,605,278 (GRCm39) |
T69A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,339,398 (GRCm39) |
F496L |
probably damaging |
Het |
| Hipk1 |
T |
C |
3: 103,668,926 (GRCm39) |
E490G |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,338,315 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,332,553 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,395,451 (GRCm39) |
M570K |
probably benign |
Het |
| Kif18b |
G |
T |
11: 102,799,096 (GRCm39) |
Q702K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,681,019 (GRCm39) |
T247A |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,658,136 (GRCm39) |
E360G |
probably damaging |
Het |
| Loxl3 |
G |
T |
6: 83,014,469 (GRCm39) |
A126S |
probably benign |
Het |
| Mc5r |
C |
T |
18: 68,472,435 (GRCm39) |
R265W |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,306,197 (GRCm39) |
V340A |
probably benign |
Het |
| Mrpl13 |
G |
T |
15: 55,411,615 (GRCm39) |
H56Q |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,077,263 (GRCm39) |
T116A |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,536,930 (GRCm39) |
K48E |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,225 (GRCm39) |
T104A |
probably benign |
Het |
| Neu1 |
C |
T |
17: 35,151,742 (GRCm39) |
R179W |
probably damaging |
Het |
| Or10d5 |
T |
C |
9: 39,861,630 (GRCm39) |
T146A |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,524 (GRCm39) |
Y35* |
probably null |
Het |
| Osbp |
G |
T |
19: 11,951,198 (GRCm39) |
E248* |
probably null |
Het |
| Otx1 |
T |
A |
11: 21,946,634 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,851,274 (GRCm39) |
Q759L |
probably damaging |
Het |
| Pax6 |
A |
C |
2: 105,516,228 (GRCm39) |
S169R |
probably benign |
Het |
| Pigg |
T |
G |
5: 108,480,783 (GRCm39) |
I389M |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,776,940 (GRCm39) |
V59F |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,781,903 (GRCm39) |
Q241H |
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,941,720 (GRCm39) |
D107G |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,159,690 (GRCm39) |
L459Q |
probably damaging |
Het |
| Prss55 |
A |
T |
14: 64,313,171 (GRCm39) |
W238R |
probably damaging |
Het |
| Rgl1 |
C |
T |
1: 152,412,032 (GRCm39) |
E446K |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,638,090 (GRCm39) |
G221D |
probably damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,129 (GRCm39) |
F83S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,798,202 (GRCm39) |
V947M |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,119,312 (GRCm39) |
L1397P |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,802,519 (GRCm39) |
V251E |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,387,900 (GRCm39) |
I198L |
probably benign |
Het |
| Smoc2 |
A |
T |
17: 14,589,233 (GRCm39) |
N234I |
possibly damaging |
Het |
| Spdl1 |
T |
A |
11: 34,710,136 (GRCm39) |
K382* |
probably null |
Het |
| Ssrp1 |
G |
A |
2: 84,872,660 (GRCm39) |
|
probably null |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Triqk |
T |
A |
4: 12,974,817 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
T |
C |
11: 62,174,519 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,677 (GRCm39) |
S182P |
possibly damaging |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,475 (GRCm39) |
I236V |
probably damaging |
Het |
| Vmn2r120 |
A |
C |
17: 57,816,479 (GRCm39) |
N625K |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,569,362 (GRCm39) |
I85T |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,371,468 (GRCm39) |
V165I |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,712,328 (GRCm39) |
Y1127N |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,594,705 (GRCm39) |
H762Q |
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 |
|
|
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'- AGACCCCTGGAAACGAGATG -3'
(R):5'- GTTGTCAGCCAAGAGTGAGC -3'
Sequencing Primer
(F):5'- CCTGGAAACGAGATGCCAGG -3'
(R):5'- AGAAACCAGGGGTCTTTAAACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation