Incidental Mutation 'R7492:Afdn'
| ID |
580875 |
| 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 |
045566-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to C
at 14068638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
| AlphaFold |
Q9QZQ1 |
| 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 null
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 benign
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: 99.7%
- 20x: 99.0%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,948,560 (GRCm39) |
D819G |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,243,167 (GRCm39) |
I1677L |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,998,673 (GRCm39) |
S367G |
probably benign |
Het |
| Aldh6a1 |
A |
G |
12: 84,483,640 (GRCm39) |
L302P |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,718,357 (GRCm39) |
D536G |
unknown |
Het |
| Ankrd17 |
A |
G |
5: 90,381,807 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Apol7e |
G |
A |
15: 77,601,656 (GRCm39) |
E85K |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,657 (GRCm39) |
D439G |
probably damaging |
Het |
| AU040320 |
G |
T |
4: 126,741,648 (GRCm39) |
C952F |
possibly damaging |
Het |
| Btbd8 |
G |
A |
5: 107,658,373 (GRCm39) |
E1648K |
probably benign |
Het |
| C6 |
A |
G |
15: 4,761,196 (GRCm39) |
S19G |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,930,009 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
A |
C |
15: 92,212,423 (GRCm39) |
T862P |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,859,812 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,650 (GRCm39) |
K964E |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,819,846 (GRCm39) |
Y145C |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,240,737 (GRCm39) |
C196Y |
possibly damaging |
Het |
| Efcab11 |
A |
C |
12: 99,844,660 (GRCm39) |
I58R |
possibly damaging |
Het |
| Fam81b |
T |
A |
13: 76,419,398 (GRCm39) |
I51F |
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,111,262 (GRCm39) |
V139M |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,493,598 (GRCm39) |
|
probably null |
Het |
| Fech |
C |
T |
18: 64,600,842 (GRCm39) |
W220* |
probably null |
Het |
| Fgl1 |
C |
T |
8: 41,644,624 (GRCm39) |
W293* |
probably null |
Het |
| Firrm |
A |
G |
1: 163,786,897 (GRCm39) |
I724T |
probably benign |
Het |
| Foxi2 |
T |
C |
7: 135,012,301 (GRCm39) |
L63P |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,285,237 (GRCm39) |
R1353G |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Galnt5 |
T |
A |
2: 57,916,048 (GRCm39) |
|
probably null |
Het |
| Glb1 |
A |
T |
9: 114,303,017 (GRCm39) |
I618F |
probably damaging |
Het |
| Hs2st1 |
A |
T |
3: 144,141,357 (GRCm39) |
M237K |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,386,293 (GRCm39) |
D19G |
|
Het |
| Il1f10 |
A |
G |
2: 24,182,829 (GRCm39) |
D35G |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,292,436 (GRCm39) |
T419I |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,420,542 (GRCm39) |
E54V |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,681,065 (GRCm39) |
D991G |
probably benign |
Het |
| Klhl18 |
A |
C |
9: 110,257,843 (GRCm39) |
Y532* |
probably null |
Het |
| Lama1 |
T |
C |
17: 68,124,646 (GRCm39) |
F2902S |
|
Het |
| Lrba |
T |
C |
3: 86,571,835 (GRCm39) |
S2380P |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,925 (GRCm39) |
I196F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,524 (GRCm39) |
K1746E |
possibly damaging |
Het |
| Megf10 |
T |
C |
18: 57,424,866 (GRCm39) |
Y1002H |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,053,273 (GRCm39) |
T1815A |
probably benign |
Het |
| Mtg1 |
T |
C |
7: 139,724,610 (GRCm39) |
L162P |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,195,328 (GRCm39) |
Y899* |
probably null |
Het |
| Nlrp9a |
A |
T |
7: 26,257,081 (GRCm39) |
D233V |
probably damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,571 (GRCm39) |
Q9L |
possibly damaging |
Het |
| Or2z2 |
T |
A |
11: 58,346,715 (GRCm39) |
N20I |
probably benign |
Het |
| Or4k45 |
C |
A |
2: 111,395,166 (GRCm39) |
V208L |
probably benign |
Het |
| Or6c201 |
T |
A |
10: 128,969,509 (GRCm39) |
I43F |
probably damaging |
Het |
| Or8k36-ps1 |
T |
A |
2: 86,437,063 (GRCm39) |
N284I |
unknown |
Het |
| Parvb |
A |
T |
15: 84,174,651 (GRCm39) |
Q148L |
probably damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,556,497 (GRCm39) |
T609M |
probably damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,809,178 (GRCm39) |
T544S |
probably benign |
Het |
| Pkd1 |
C |
G |
17: 24,788,715 (GRCm39) |
I824M |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,794,849 (GRCm39) |
L370Q |
probably damaging |
Het |
| Plcb1 |
G |
T |
2: 135,093,684 (GRCm39) |
E166* |
probably null |
Het |
| Pnpt1 |
A |
G |
11: 29,085,522 (GRCm39) |
I138V |
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,996 (GRCm39) |
L313P |
probably damaging |
Het |
| Pramel21 |
C |
A |
4: 143,342,744 (GRCm39) |
Q284K |
not run |
Het |
| Prep |
A |
G |
10: 44,996,910 (GRCm39) |
Y396C |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,269,974 (GRCm39) |
C562* |
probably null |
Het |
| Prss12 |
T |
A |
3: 123,276,425 (GRCm39) |
C351* |
probably null |
Het |
| Rnf41 |
C |
A |
10: 128,274,283 (GRCm39) |
H312N |
probably damaging |
Het |
| Ror1 |
C |
T |
4: 100,298,256 (GRCm39) |
T543I |
probably benign |
Het |
| Rreb1 |
G |
A |
13: 38,115,724 (GRCm39) |
V1028I |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,423,700 (GRCm39) |
S474T |
|
Het |
| Slc1a2 |
T |
A |
2: 102,570,275 (GRCm39) |
C184* |
probably null |
Het |
| Slc2a4 |
G |
A |
11: 69,837,202 (GRCm39) |
T78I |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,277,509 (GRCm39) |
I317N |
possibly damaging |
Het |
| Smad9 |
G |
A |
3: 54,693,747 (GRCm39) |
|
probably null |
Het |
| Sst |
T |
C |
16: 23,708,576 (GRCm39) |
E85G |
probably damaging |
Het |
| Sting1 |
T |
C |
18: 35,871,766 (GRCm39) |
Y162C |
probably damaging |
Het |
| Svep1 |
T |
G |
4: 58,066,468 (GRCm39) |
E3205D |
possibly damaging |
Het |
| Tmc7 |
G |
T |
7: 118,141,189 (GRCm39) |
S647R |
probably benign |
Het |
| Trnt1 |
T |
C |
6: 106,751,493 (GRCm39) |
S157P |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,719,922 (GRCm39) |
H831L |
probably benign |
Het |
| Vmn1r121 |
A |
G |
7: 20,832,095 (GRCm39) |
F115S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,238,020 (GRCm39) |
D207G |
possibly damaging |
Het |
| Vwde |
C |
A |
6: 13,204,980 (GRCm39) |
K300N |
probably null |
Het |
| Zfp418 |
A |
G |
7: 7,184,396 (GRCm39) |
T120A |
possibly damaging |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
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 |
|
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'- GCCCTCTGTGTCAGATGCTTTG -3'
(R):5'- CCAGGCAGCCTTAGATGAGATC -3'
Sequencing Primer
(F):5'- GGGAATAACTAAGTGTCGTGCTC -3'
(R):5'- GCAGCCTTAGATGAGATCCAAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation