Incidental Mutation 'R7161:Afdn'
| ID |
557608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afdn
|
| Ensembl Gene |
ENSMUSG00000068036 |
| Gene Name |
afadin, adherens junction formation factor |
| Synonyms |
Afadin, I-afadin, AF6, Mllt4, S-afadin, 5033403D15Rik |
| MMRRC Submission |
045260-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13760539-13906150 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13888946 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1592
(M1592K)
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036
AA Change: M139K
| 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 |
possibly damaging
Transcript: ENSMUST00000137708
AA Change: M1592K
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: M1592K
| 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 |
possibly damaging
Transcript: ENSMUST00000137784
AA Change: M1599K
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: M1599K
| 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 |
possibly damaging
Transcript: ENSMUST00000139666
AA Change: M1592K
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: M1592K
| 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
AA Change: M1577K
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: M1577K
| 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 |
possibly damaging
Transcript: ENSMUST00000170827
AA Change: M1577K
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: M1577K
| 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 |
0.5103 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 110,074,142 (GRCm38) |
Q443L |
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,607,373 (GRCm38) |
M285K |
probably damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,313,615 (GRCm38) |
T345S |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,626,053 (GRCm38) |
E526G |
probably damaging |
Het |
| Car13 |
A |
G |
3: 14,645,208 (GRCm38) |
D70G |
probably benign |
Het |
| Castor2 |
C |
A |
5: 134,135,190 (GRCm38) |
T75N |
probably damaging |
Het |
| Ccdc127 |
A |
T |
13: 74,352,877 (GRCm38) |
L4F |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
| Ccr10 |
A |
G |
11: 101,174,278 (GRCm38) |
I142T |
probably benign |
Het |
| Cep126 |
C |
T |
9: 8,087,399 (GRCm38) |
V1005M |
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,394,412 (GRCm38) |
I124T |
probably benign |
Het |
| Coq8a |
A |
G |
1: 180,170,341 (GRCm38) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,719,304 (GRCm38) |
K174N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,696,395 (GRCm38) |
V76A |
possibly damaging |
Het |
| Disp1 |
A |
G |
1: 183,087,625 (GRCm38) |
M1077T |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,806,788 (GRCm38) |
R258L |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,855,372 (GRCm38) |
K3972* |
probably null |
Het |
| Dnai4 |
G |
A |
4: 103,096,616 (GRCm38) |
P129S |
probably benign |
Het |
| Dusp7 |
T |
A |
9: 106,368,915 (GRCm38) |
S40T |
unknown |
Het |
| Emg1 |
T |
C |
6: 124,705,749 (GRCm38) |
T88A |
probably benign |
Het |
| Fbxo5 |
A |
G |
10: 5,802,043 (GRCm38) |
V190A |
possibly damaging |
Het |
| Fbxw20 |
T |
G |
9: 109,225,980 (GRCm38) |
D167A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,380,861 (GRCm38) |
V562E |
probably damaging |
Het |
| Foxj1 |
C |
G |
11: 116,332,408 (GRCm38) |
G190R |
probably damaging |
Het |
| Gdf15 |
T |
G |
8: 70,631,342 (GRCm38) |
S91R |
possibly damaging |
Het |
| Gm4846 |
C |
A |
1: 166,487,010 (GRCm38) |
V355F |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,308,415 (GRCm38) |
Y776N |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,514,719 (GRCm38) |
R588H |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,215,778 (GRCm38) |
Y56* |
probably null |
Het |
| Itpr1 |
C |
T |
6: 108,386,640 (GRCm38) |
A741V |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,126,696 (GRCm38) |
I519K |
probably benign |
Het |
| Kcnh5 |
T |
A |
12: 74,897,709 (GRCm38) |
Q922L |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,919,489 (GRCm38) |
Y103H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 119,070,785 (GRCm38) |
E989G |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,226,454 (GRCm38) |
L1466Q |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,498,467 (GRCm38) |
P138L |
probably benign |
Het |
| Lhx1 |
G |
A |
11: 84,519,872 (GRCm38) |
P300S |
probably damaging |
Het |
| Mppe1 |
G |
A |
18: 67,229,771 (GRCm38) |
A131V |
probably benign |
Het |
| Neb |
A |
T |
2: 52,271,592 (GRCm38) |
Y2063N |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,817,720 (GRCm38) |
F740L |
probably benign |
Het |
| Nop10 |
A |
G |
2: 112,262,046 (GRCm38) |
N8S |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,069,935 (GRCm38) |
T20S |
possibly damaging |
Het |
| Or8h7 |
A |
C |
2: 86,890,649 (GRCm38) |
H175Q |
probably benign |
Het |
| Pask |
C |
T |
1: 93,310,905 (GRCm38) |
S1286N |
probably benign |
Het |
| Pcdhgc4 |
A |
T |
18: 37,815,663 (GRCm38) |
E44V |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,865,214 (GRCm38) |
M463T |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,281,525 (GRCm38) |
M714L |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,106,112 (GRCm38) |
E1618G |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,139,363 (GRCm38) |
N234S |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 66,809,627 (GRCm38) |
T886S |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,069,090 (GRCm38) |
D30Y |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,954,500 (GRCm38) |
I103F |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 23,115,433 (GRCm38) |
I206T |
probably benign |
Het |
| Rhcg |
A |
G |
7: 79,617,441 (GRCm38) |
F29S |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,812,732 (GRCm38) |
I89V |
probably benign |
Het |
| Serac1 |
T |
C |
17: 6,065,076 (GRCm38) |
D204G |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,273,162 (GRCm38) |
N175S |
probably null |
Het |
| Slc25a19 |
C |
T |
11: 115,616,547 (GRCm38) |
E250K |
possibly damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,465,383 (GRCm38) |
Y329F |
possibly damaging |
Het |
| Smagp |
T |
C |
15: 100,636,245 (GRCm38) |
|
probably benign |
Het |
| Spats1 |
T |
A |
17: 45,449,169 (GRCm38) |
Q268H |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,717,603 (GRCm38) |
T219A |
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,614,955 (GRCm38) |
M11T |
probably benign |
Het |
| Susd1 |
T |
C |
4: 59,329,581 (GRCm38) |
D669G |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,128,859 (GRCm38) |
Y613H |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,081,746 (GRCm38) |
*439Q |
probably null |
Het |
| Tmed2 |
T |
A |
5: 124,546,920 (GRCm38) |
M133K |
possibly damaging |
Het |
| Trpv5 |
A |
T |
6: 41,660,536 (GRCm38) |
Y370* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,812,244 (GRCm38) |
S13316P |
probably damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,363,280 (GRCm38) |
M381K |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,203,130 (GRCm38) |
Y200H |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,244,083 (GRCm38) |
M790L |
possibly damaging |
Het |
| Zscan25 |
T |
C |
5: 145,286,441 (GRCm38) |
L173P |
probably benign |
Het |
|
| Other mutations in Afdn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Afdn
|
APN |
17 |
13,884,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00784:Afdn
|
APN |
17 |
13,849,263 (GRCm38) |
splice site |
probably benign |
|
|
IGL00971:Afdn
|
APN |
17 |
13,852,313 (GRCm38) |
splice site |
probably benign |
|
|
IGL01403:Afdn
|
APN |
17 |
13,903,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01944:Afdn
|
APN |
17 |
13,810,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02474:Afdn
|
APN |
17 |
13,818,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02615:Afdn
|
APN |
17 |
13,825,976 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02664:Afdn
|
APN |
17 |
13,852,466 (GRCm38) |
splice site |
probably benign |
|
|
IGL03036:Afdn
|
APN |
17 |
13,888,088 (GRCm38) |
missense |
probably benign |
0.12 |
|
jubilee
|
UTSW |
17 |
13,887,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03134:Afdn
|
UTSW |
17 |
13,846,286 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0112:Afdn
|
UTSW |
17 |
13,884,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Afdn
|
UTSW |
17 |
13,899,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0305:Afdn
|
UTSW |
17 |
13,888,514 (GRCm38) |
splice site |
probably null |
|
|
R0310:Afdn
|
UTSW |
17 |
13,885,508 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0711:Afdn
|
UTSW |
17 |
13,852,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0828:Afdn
|
UTSW |
17 |
13,903,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1268:Afdn
|
UTSW |
17 |
13,887,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1317:Afdn
|
UTSW |
17 |
13,846,273 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1386:Afdn
|
UTSW |
17 |
13,846,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1438:Afdn
|
UTSW |
17 |
13,855,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1607:Afdn
|
UTSW |
17 |
13,810,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1819:Afdn
|
UTSW |
17 |
13,850,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1872:Afdn
|
UTSW |
17 |
13,881,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1880:Afdn
|
UTSW |
17 |
13,852,353 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R2049:Afdn
|
UTSW |
17 |
13,810,433 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2140:Afdn
|
UTSW |
17 |
13,810,433 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2142:Afdn
|
UTSW |
17 |
13,810,433 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2162:Afdn
|
UTSW |
17 |
13,896,174 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2221:Afdn
|
UTSW |
17 |
13,883,737 (GRCm38) |
splice site |
probably benign |
|
|
R2223:Afdn
|
UTSW |
17 |
13,883,737 (GRCm38) |
splice site |
probably benign |
|
|
R2291:Afdn
|
UTSW |
17 |
13,888,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2993:Afdn
|
UTSW |
17 |
13,891,000 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3402:Afdn
|
UTSW |
17 |
13,883,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3403:Afdn
|
UTSW |
17 |
13,883,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3690:Afdn
|
UTSW |
17 |
13,888,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3691:Afdn
|
UTSW |
17 |
13,888,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3764:Afdn
|
UTSW |
17 |
13,846,589 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3832:Afdn
|
UTSW |
17 |
13,896,174 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4002:Afdn
|
UTSW |
17 |
13,883,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4440:Afdn
|
UTSW |
17 |
13,850,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4621:Afdn
|
UTSW |
17 |
13,888,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4935:Afdn
|
UTSW |
17 |
13,890,966 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5279:Afdn
|
UTSW |
17 |
13,888,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5421:Afdn
|
UTSW |
17 |
13,832,406 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5689:Afdn
|
UTSW |
17 |
13,855,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6332:Afdn
|
UTSW |
17 |
13,810,445 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6369:Afdn
|
UTSW |
17 |
13,835,343 (GRCm38) |
nonsense |
probably null |
|
|
R6433:Afdn
|
UTSW |
17 |
13,881,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6467:Afdn
|
UTSW |
17 |
13,804,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6500:Afdn
|
UTSW |
17 |
13,822,372 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6564:Afdn
|
UTSW |
17 |
13,896,089 (GRCm38) |
missense |
probably benign |
|
|
R6705:Afdn
|
UTSW |
17 |
13,888,021 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6733:Afdn
|
UTSW |
17 |
13,823,353 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6983:Afdn
|
UTSW |
17 |
13,881,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7089:Afdn
|
UTSW |
17 |
13,890,812 (GRCm38) |
splice site |
probably null |
|
|
R7175:Afdn
|
UTSW |
17 |
13,888,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7492:Afdn
|
UTSW |
17 |
13,848,376 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7567:Afdn
|
UTSW |
17 |
13,888,808 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7581:Afdn
|
UTSW |
17 |
13,849,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7694:Afdn
|
UTSW |
17 |
13,888,882 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7722:Afdn
|
UTSW |
17 |
13,808,969 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7794:Afdn
|
UTSW |
17 |
13,882,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8039:Afdn
|
UTSW |
17 |
13,899,141 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8444:Afdn
|
UTSW |
17 |
13,883,800 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8694:Afdn
|
UTSW |
17 |
13,888,379 (GRCm38) |
missense |
probably benign |
|
|
R8728:Afdn
|
UTSW |
17 |
13,898,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8770:Afdn
|
UTSW |
17 |
13,883,937 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8887:Afdn
|
UTSW |
17 |
13,896,139 (GRCm38) |
nonsense |
probably null |
|
|
R9101:Afdn
|
UTSW |
17 |
13,823,444 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9169:Afdn
|
UTSW |
17 |
13,852,365 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9275:Afdn
|
UTSW |
17 |
13,804,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9276:Afdn
|
UTSW |
17 |
13,804,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9277:Afdn
|
UTSW |
17 |
13,804,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9278:Afdn
|
UTSW |
17 |
13,804,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9281:Afdn
|
UTSW |
17 |
13,804,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9573:Afdn
|
UTSW |
17 |
13,829,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9619:Afdn
|
UTSW |
17 |
13,881,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9746:Afdn
|
UTSW |
17 |
13,846,520 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9797:Afdn
|
UTSW |
17 |
13,846,300 (GRCm38) |
missense |
probably benign |
|
|
X0060:Afdn
|
UTSW |
17 |
13,818,170 (GRCm38) |
nonsense |
probably null |
|
|
X0064:Afdn
|
UTSW |
17 |
13,888,027 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
Z1088:Afdn
|
UTSW |
17 |
13,883,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCCCTGGAAACGAGATG -3'
(R):5'- CAAGTTGTCAGCCAAGAGTGAG -3'
Sequencing Primer
(F):5'- TGCACATTGTGGACATGCTAAGC -3'
(R):5'- GCAAAAGAAACCAGGGGTCTTTAAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation