Incidental Mutation 'R0112:Afdn'
| ID |
20551 |
| 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 |
038398-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0112 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14104899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1186
(S1186P)
|
| 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: ENSMUST00000123030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136087
|
| 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 damaging
Transcript: ENSMUST00000137708
AA Change: S1201P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: S1201P
| 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: S1208P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: S1208P
| 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: S1201P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: S1201P
| 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: ENSMUST00000170827
AA Change: S1186P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: S1186P
| 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: ENSMUST00000150848
AA Change: S1186P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: S1186P
| 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 |
0.2618 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (86/86) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,815 (GRCm39) |
Y179F |
probably benign |
Het |
| Abcd4 |
A |
G |
12: 84,659,673 (GRCm39) |
|
probably benign |
Het |
| Abhd12b |
C |
T |
12: 70,227,791 (GRCm39) |
T191M |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 34,976,548 (GRCm39) |
E27G |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,282,902 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
G |
T |
17: 34,870,600 (GRCm39) |
R351L |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,830,223 (GRCm39) |
S348P |
possibly damaging |
Het |
| Bfsp1 |
A |
C |
2: 143,669,563 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
G |
15: 88,614,586 (GRCm39) |
V103A |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,642,547 (GRCm39) |
K392N |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,321,627 (GRCm39) |
K577R |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,389,822 (GRCm39) |
G2186C |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| Defb3 |
T |
A |
8: 19,343,423 (GRCm39) |
L12Q |
probably null |
Het |
| Defb7 |
G |
T |
8: 19,545,186 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,682,540 (GRCm39) |
M491K |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,965,260 (GRCm39) |
S2261G |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,263,825 (GRCm39) |
E853D |
probably benign |
Het |
| Dner |
C |
A |
1: 84,560,774 (GRCm39) |
A23S |
probably benign |
Het |
| Dock5 |
A |
C |
14: 68,057,090 (GRCm39) |
S539A |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,716,099 (GRCm39) |
F317I |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,936,638 (GRCm39) |
I539F |
possibly damaging |
Het |
| Eogt |
G |
A |
6: 97,112,245 (GRCm39) |
|
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,130,630 (GRCm39) |
T300A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,033,753 (GRCm39) |
D166G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,648,812 (GRCm39) |
S1366P |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,777,935 (GRCm39) |
|
probably benign |
Het |
| Foxh1 |
T |
C |
15: 76,553,210 (GRCm39) |
H168R |
probably benign |
Het |
| Galnt14 |
T |
G |
17: 73,881,979 (GRCm39) |
|
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,844,482 (GRCm39) |
D2G |
probably damaging |
Het |
| Gp6 |
C |
A |
7: 4,373,183 (GRCm39) |
A247S |
probably benign |
Het |
| Gp6 |
G |
C |
7: 4,374,626 (GRCm39) |
P232A |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,340 (GRCm39) |
T198A |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,563,774 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,311 (GRCm39) |
E180G |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,429 (GRCm39) |
V1768A |
probably benign |
Het |
| Ints10 |
A |
T |
8: 69,279,954 (GRCm39) |
T694S |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,709 (GRCm39) |
Y131F |
probably damaging |
Het |
| Litaf |
G |
T |
16: 10,784,375 (GRCm39) |
T45K |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,124,629 (GRCm39) |
R363* |
probably null |
Het |
| Lrrc37a |
A |
T |
11: 103,391,739 (GRCm39) |
Y1229N |
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,008,024 (GRCm39) |
A943T |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,565,380 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Naalad2 |
G |
T |
9: 18,262,743 (GRCm39) |
Y384* |
probably null |
Het |
| Nat2 |
C |
T |
8: 67,954,378 (GRCm39) |
Q163* |
probably null |
Het |
| Nell2 |
A |
G |
15: 95,329,562 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
C |
T |
9: 103,914,547 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,869 (GRCm39) |
S46G |
possibly damaging |
Het |
| Or2y13 |
A |
T |
11: 49,414,961 (GRCm39) |
H137L |
possibly damaging |
Het |
| Or52x1 |
A |
T |
7: 104,852,866 (GRCm39) |
M228K |
probably benign |
Het |
| Or5b94 |
C |
T |
19: 12,652,121 (GRCm39) |
T184I |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,390 (GRCm39) |
A63E |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,714 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,761 (GRCm39) |
C629R |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,454,978 (GRCm39) |
T620A |
probably benign |
Het |
| Rskr |
T |
C |
11: 78,182,507 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,376,031 (GRCm39) |
D410A |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,511,934 (GRCm39) |
|
probably benign |
Het |
| Slc19a1 |
T |
C |
10: 76,877,999 (GRCm39) |
I178T |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,837 (GRCm39) |
Y390F |
probably benign |
Het |
| Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
| Tbc1d9 |
C |
A |
8: 83,991,466 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,847,894 (GRCm39) |
Q324* |
probably null |
Het |
| Trf |
A |
G |
9: 103,104,155 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
T |
G |
11: 69,479,505 (GRCm39) |
Y202D |
probably damaging |
Het |
| Trpv1 |
T |
A |
11: 73,144,098 (GRCm39) |
M618K |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,759,571 (GRCm39) |
Y2250* |
probably null |
Het |
| Ttc3 |
A |
G |
16: 94,186,181 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
T |
G |
9: 18,321,083 (GRCm39) |
S204A |
probably benign |
Het |
| Uck2 |
A |
T |
1: 167,055,340 (GRCm39) |
Y203N |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,562,209 (GRCm39) |
L1280* |
probably null |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,609 (GRCm39) |
H146L |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,897 (GRCm39) |
M209V |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,990,991 (GRCm39) |
T790I |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,463,866 (GRCm39) |
R808L |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,269,962 (GRCm39) |
S17C |
probably damaging |
Het |
| Zfp811 |
C |
T |
17: 33,016,738 (GRCm39) |
R434Q |
probably damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,705,689 (GRCm39) |
|
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 |
|
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 |
|
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'- TGATGCACATGATACAGTGCCTGC -3'
(R):5'- TCCCTGTCTCAAGAAGGGGAAATGG -3'
Sequencing Primer
(F):5'- GATACAGTGCCTGCATTTAAAGG -3'
(R):5'- GACCCTATGCTTTGAATGAGGAAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation