Incidental Mutation 'R6332:Afdn'
| ID |
513204 |
| 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 |
044486-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14030707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 206
(D206V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139347]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000156591]
[ENSMUST00000170827]
|
| AlphaFold |
Q9QZQ1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137495
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137708
AA Change: D205V
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: D205V
| 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: D205V
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: D205V
| 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: ENSMUST00000139347
AA Change: D205V
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115250
Gene: ENSMUSG00000068036
AA Change: D205V
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
39 |
134 |
4.09e-28 |
SMART |
|
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139666
AA Change: D205V
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: D205V
| 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 |
possibly damaging
Transcript: ENSMUST00000150848
AA Change: D205V
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: D205V
| 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: ENSMUST00000156591
AA Change: D206V
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122204
Gene: ENSMUSG00000068036
AA Change: D206V
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
39 |
134 |
4.09e-28 |
SMART |
|
coiled coil region
|
147 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170827
AA Change: D205V
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: D205V
| 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 |
0.3856 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
C |
A |
7: 42,095,667 (GRCm39) |
G194C |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,135,248 (GRCm39) |
K258E |
probably damaging |
Het |
| Agt |
G |
T |
8: 125,284,572 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,801,432 (GRCm39) |
D298E |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,271,709 (GRCm39) |
S897G |
probably benign |
Het |
| Apol9b |
A |
G |
15: 77,619,746 (GRCm39) |
|
probably null |
Het |
| Baz1a |
T |
C |
12: 54,965,339 (GRCm39) |
E705G |
probably benign |
Het |
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,246,210 (GRCm39) |
F749L |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,018,036 (GRCm39) |
I482K |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,749,955 (GRCm39) |
F293S |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,439,129 (GRCm39) |
M527R |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,343,273 (GRCm39) |
R1539H |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,685,319 (GRCm39) |
Y603C |
probably damaging |
Het |
| Eea1 |
G |
A |
10: 95,877,335 (GRCm39) |
A1350T |
possibly damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,394,402 (GRCm39) |
K507N |
possibly damaging |
Het |
| Flt3l |
A |
T |
7: 44,783,091 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,667,230 (GRCm39) |
Q834R |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hycc2 |
T |
A |
1: 58,569,034 (GRCm39) |
Y515F |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,469,827 (GRCm39) |
N157D |
possibly damaging |
Het |
| Itga2 |
A |
C |
13: 114,980,009 (GRCm39) |
M1064R |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,002,228 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
T |
C |
10: 77,662,883 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,518,431 (GRCm39) |
C269R |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,355 (GRCm39) |
D125G |
probably damaging |
Het |
| Matn2 |
A |
C |
15: 34,423,901 (GRCm39) |
E586D |
probably benign |
Het |
| Mef2b |
T |
A |
8: 70,616,789 (GRCm39) |
|
probably null |
Het |
| Mrps22 |
A |
G |
9: 98,483,524 (GRCm39) |
|
probably null |
Het |
| Mtmr2 |
T |
C |
9: 13,711,325 (GRCm39) |
F445L |
probably damaging |
Het |
| Nxph4 |
A |
G |
10: 127,362,237 (GRCm39) |
V218A |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,408,001 (GRCm39) |
V8A |
probably benign |
Het |
| Or4f57 |
C |
T |
2: 111,791,091 (GRCm39) |
G109D |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,660,980 (GRCm39) |
S310P |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,325,896 (GRCm39) |
V100D |
probably damaging |
Het |
| Phldb2 |
A |
C |
16: 45,594,609 (GRCm39) |
S899A |
probably benign |
Het |
| Pnpla3 |
G |
A |
15: 84,056,983 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
A |
G |
1: 157,126,757 (GRCm39) |
Y94H |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,006,019 (GRCm39) |
I987N |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,687,753 (GRCm39) |
Y300H |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,826,584 (GRCm39) |
S1343L |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,648,105 (GRCm39) |
K938E |
possibly damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,129 (GRCm39) |
V259A |
probably benign |
Het |
| Slc3a1 |
A |
C |
17: 85,335,860 (GRCm39) |
M1L |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,409 (GRCm39) |
V427I |
probably benign |
Het |
| Ssbp2 |
A |
T |
13: 91,839,027 (GRCm39) |
M300L |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,940,521 (GRCm39) |
D878G |
probably damaging |
Het |
| Stk19 |
A |
G |
17: 35,043,574 (GRCm39) |
L212P |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,240,387 (GRCm39) |
M115V |
possibly damaging |
Het |
| Syt17 |
A |
C |
7: 118,033,466 (GRCm39) |
S181A |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,875,849 (GRCm39) |
N5Y |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,680,421 (GRCm39) |
|
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,310 (GRCm39) |
M1K |
probably null |
Het |
| Tmem82 |
T |
A |
4: 141,343,721 (GRCm39) |
Q183L |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,203 (GRCm39) |
E142G |
probably damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,167 (GRCm39) |
H253Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,687,808 (GRCm39) |
|
probably benign |
Het |
| Ubd |
A |
G |
17: 37,506,392 (GRCm39) |
K93E |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,415 (GRCm39) |
F222Y |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,151,328 (GRCm39) |
N95K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,434,904 (GRCm39) |
V1775A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,346,981 (GRCm39) |
K1787E |
possibly damaging |
Het |
| Zfp26 |
A |
T |
9: 20,348,582 (GRCm39) |
F661I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,504 (GRCm39) |
K483* |
probably null |
Het |
| Zfp946 |
A |
G |
17: 22,673,519 (GRCm39) |
E91G |
probably damaging |
Het |
| Zic5 |
C |
A |
14: 122,697,161 (GRCm39) |
D485Y |
unknown |
Het |
| Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
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 |
|
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'- CTCATGGTAATTTGCACATGGTAAC -3'
(R):5'- GCTATTAAAAGGCTACTTCACCCAC -3'
Sequencing Primer
(F):5'- GACAGGTGTAGACAGATGAC -3'
(R):5'- CCCACCTTCTCAGTTTAAGAAATAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation