Incidental Mutation 'R2223:Afdn'
| ID |
241640 |
| 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 |
040224-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2223 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 14103999 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 |
noncoding transcript
Transcript: ENSMUST00000123030
|
| 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 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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
G |
3: 40,889,296 (GRCm39) |
|
probably benign |
Het |
| Acvr1b |
C |
T |
15: 101,100,924 (GRCm39) |
A362V |
probably benign |
Het |
| Adamts5 |
A |
C |
16: 85,696,194 (GRCm39) |
L321R |
probably damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,306,762 (GRCm39) |
D1392A |
probably benign |
Het |
| Aph1b |
A |
T |
9: 66,691,921 (GRCm39) |
M121K |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,080,868 (GRCm39) |
A120T |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,697,428 (GRCm39) |
N472I |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,849,186 (GRCm39) |
|
probably null |
Het |
| Cfd |
A |
T |
10: 79,728,039 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,141,412 (GRCm39) |
E242G |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cradd |
A |
C |
10: 95,011,735 (GRCm39) |
V135G |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,979,617 (GRCm39) |
C460R |
probably damaging |
Het |
| Cryz |
A |
T |
3: 154,324,191 (GRCm39) |
N192I |
possibly damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,332 (GRCm39) |
M350L |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,239,982 (GRCm39) |
E1091G |
possibly damaging |
Het |
| Exoc3l4 |
C |
G |
12: 111,392,586 (GRCm39) |
A471G |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
| Fmo2 |
C |
T |
1: 162,725,813 (GRCm39) |
C21Y |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,243 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
T |
A |
10: 86,492,372 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp2 |
A |
G |
17: 46,478,153 (GRCm39) |
I434V |
probably benign |
Het |
| Kctd10 |
G |
T |
5: 114,505,410 (GRCm39) |
R195S |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,096,419 (GRCm39) |
C243* |
probably null |
Het |
| Luc7l2 |
T |
C |
6: 38,542,659 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,670,670 (GRCm39) |
V111D |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,943,666 (GRCm39) |
V590A |
possibly damaging |
Het |
| Megf11 |
G |
A |
9: 64,567,713 (GRCm39) |
G401S |
possibly damaging |
Het |
| Mgat4d |
G |
A |
8: 84,082,301 (GRCm39) |
|
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,292,245 (GRCm39) |
|
probably null |
Het |
| Mx1 |
T |
C |
16: 97,256,432 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,046,815 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,848,600 (GRCm39) |
I759V |
probably damaging |
Het |
| Or6c210 |
T |
A |
10: 129,495,678 (GRCm39) |
M1K |
probably null |
Het |
| Pde8b |
T |
C |
13: 95,179,955 (GRCm39) |
N318S |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,839,063 (GRCm39) |
T874A |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,900,422 (GRCm39) |
T40A |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,469 (GRCm39) |
N607S |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,234,581 (GRCm39) |
|
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,549 (GRCm39) |
I1678S |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snap91 |
T |
C |
9: 86,674,580 (GRCm39) |
T544A |
possibly damaging |
Het |
| Sp8 |
G |
A |
12: 118,813,473 (GRCm39) |
G443S |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,144,923 (GRCm39) |
G384S |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
| Trip10 |
A |
G |
17: 57,570,039 (GRCm39) |
D568G |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,973,480 (GRCm39) |
F279L |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,150,999 (GRCm39) |
N532S |
probably benign |
Het |
| Ube2w |
A |
G |
1: 16,668,183 (GRCm39) |
S97P |
possibly damaging |
Het |
| Uvssa |
C |
T |
5: 33,549,407 (GRCm39) |
T356I |
probably damaging |
Het |
| Vmn1r25 |
A |
C |
6: 57,956,223 (GRCm39) |
L22R |
probably damaging |
Het |
| Vmn2r112 |
T |
G |
17: 22,820,214 (GRCm39) |
M29R |
possibly damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,301 (GRCm39) |
M705K |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 82,973,895 (GRCm39) |
A31D |
possibly 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 |
|
|
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'- AAGTGTAGTACCTTTGAGGGC -3'
(R):5'- TACTTGCCACATTGGGGCTG -3'
Sequencing Primer
(F):5'- GTACCTTTAATGCCAGCACTGAGG -3'
(R):5'- CACATTGGGGCTGGAACG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation