Incidental Mutation 'R7089:Afdn'
| ID |
568485 |
| 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 |
045183-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1835 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 14111074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
| AlphaFold |
Q9QZQ1 |
| 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 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 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 null
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 null
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,927 (GRCm39) |
V494A |
probably benign |
Het |
| 1700017B05Rik |
A |
T |
9: 57,166,041 (GRCm39) |
L111Q |
probably damaging |
Het |
| Adgrf4 |
T |
G |
17: 42,977,424 (GRCm39) |
I640L |
possibly damaging |
Het |
| Ammecr1l |
A |
T |
18: 31,894,877 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,375,808 (GRCm39) |
Y879F |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,862,181 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
G |
T |
9: 111,955,514 (GRCm39) |
H542N |
probably benign |
Het |
| Ccdc192 |
C |
T |
18: 57,725,059 (GRCm39) |
T96I |
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,298,719 (GRCm39) |
R452Q |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,372,667 (GRCm39) |
H149Y |
|
Het |
| Clpp |
T |
G |
17: 57,297,421 (GRCm39) |
W32G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,819,785 (GRCm39) |
L1572M |
probably damaging |
Het |
| Drd3 |
G |
T |
16: 43,627,741 (GRCm39) |
R128S |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,146,849 (GRCm39) |
F243I |
possibly damaging |
Het |
| Endou |
G |
A |
15: 97,618,126 (GRCm39) |
P128L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,908,214 (GRCm39) |
M2596T |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,703 (GRCm39) |
K100R |
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,062,230 (GRCm39) |
S99P |
possibly damaging |
Het |
| Fez1 |
A |
T |
9: 36,778,999 (GRCm39) |
R225S |
probably benign |
Het |
| Gm14326 |
A |
T |
2: 177,588,464 (GRCm39) |
H177Q |
probably damaging |
Het |
| Gm32742 |
T |
A |
9: 51,054,546 (GRCm39) |
M1360L |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,271,677 (GRCm39) |
V2481A |
possibly damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,283 (GRCm39) |
K101E |
probably benign |
Het |
| Il15 |
A |
T |
8: 83,064,204 (GRCm39) |
S77R |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,476,216 (GRCm39) |
D95G |
probably damaging |
Het |
| Kcmf1 |
G |
A |
6: 72,819,929 (GRCm39) |
P357S |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,825,289 (GRCm39) |
T268K |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,748,153 (GRCm39) |
I3057N |
unknown |
Het |
| Lgi2 |
A |
G |
5: 52,695,832 (GRCm39) |
F376L |
probably damaging |
Het |
| Lrig3 |
T |
G |
10: 125,832,993 (GRCm39) |
L289R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,785,876 (GRCm39) |
S25G |
probably benign |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Nalcn |
A |
C |
14: 123,515,761 (GRCm39) |
I1680R |
probably benign |
Het |
| Or13d1 |
C |
T |
4: 52,971,470 (GRCm39) |
P283L |
probably damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,902 (GRCm39) |
K90N |
probably benign |
Het |
| Or5g26 |
C |
T |
2: 85,494,518 (GRCm39) |
V87M |
possibly damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,701 (GRCm39) |
N83K |
probably benign |
Het |
| Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,614 (GRCm39) |
Y198H |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,784,559 (GRCm39) |
N645I |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,889,691 (GRCm39) |
T158A |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,206,315 (GRCm39) |
R608C |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,228,049 (GRCm39) |
T408A |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,845 (GRCm39) |
V1014A |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,399,374 (GRCm39) |
T2180A |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,551,742 (GRCm39) |
Y245* |
probably null |
Het |
| Rerg |
T |
C |
6: 137,044,033 (GRCm39) |
T28A |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,249,216 (GRCm39) |
I335T |
probably damaging |
Het |
| Rmnd1 |
C |
T |
10: 4,353,873 (GRCm39) |
V78I |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,664,662 (GRCm39) |
V3547G |
probably benign |
Het |
| Scnn1a |
C |
A |
6: 125,314,770 (GRCm39) |
Q324K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,016,698 (GRCm39) |
T345I |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,668,955 (GRCm39) |
T1687A |
probably benign |
Het |
| Smim45 |
A |
T |
15: 82,136,774 (GRCm39) |
|
probably benign |
Het |
| Speer4f2 |
A |
C |
5: 17,581,661 (GRCm39) |
H201P |
|
Het |
| Spef2 |
G |
A |
15: 9,725,257 (GRCm39) |
R167C |
probably damaging |
Het |
| Srp68 |
A |
G |
11: 116,162,733 (GRCm39) |
|
probably null |
Het |
| Tbc1d14 |
A |
T |
5: 36,669,884 (GRCm39) |
F455I |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,432,006 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tlr3 |
A |
T |
8: 45,850,810 (GRCm39) |
S696T |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,978,709 (GRCm39) |
N300S |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,637,150 (GRCm39) |
I328M |
probably damaging |
Het |
| Tpm3 |
C |
T |
3: 89,980,029 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,758,833 (GRCm39) |
L63Q |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,613,265 (GRCm39) |
R324C |
probably damaging |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,204 (GRCm39) |
N107K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,100 (GRCm39) |
T770A |
|
Het |
| Zcchc2 |
C |
A |
1: 105,958,211 (GRCm39) |
P894Q |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,229 (GRCm39) |
V1585A |
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 |
|
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 |
|
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'- GCCTTTTAGTATGGATTATGATGCC -3'
(R):5'- TGCTAGGGAGAACTGACTACTGAG -3'
Sequencing Primer
(F):5'- GGATTATGATGCCTAGtaaaattt -3'
(R):5'- TCTAGAACAGAGATTGCTGGC -3'
|
| Posted On |
2019-08-05 |
Incidental Mutation