Incidental Mutation 'R4002:Afdn'
| ID | 311324 |
|---|
| 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 |
041609-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | R4002 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 17 |
|---|
| Chromosomal Location | 13760539-13906150 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 13883917 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Serine to Proline
at position 1157
(S1157P)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128891
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123030
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124188
|
|---|
| 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 damaging
Transcript: ENSMUST00000137708
AA Change: S1172P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: S1172P
| 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 damaging
Transcript: ENSMUST00000137784
AA Change: S1179P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: S1179P
| 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 damaging
Transcript: ENSMUST00000139666
AA Change: S1172P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: S1172P
| 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 damaging
Transcript: ENSMUST00000150848
AA Change: S1157P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: S1157P
| 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 damaging
Transcript: ENSMUST00000170827
AA Change: S1157P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: S1157P
| 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 |
0.394
|
|---|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
|---|
| Validation Efficiency |
97% (29/30) |
|---|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,625,540 |
N222K |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,585,415 |
M4680L |
probably benign |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,540,132 |
|
probably null |
Het |
| Ank1 |
A |
G |
8: 23,139,463 |
T63A |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,348,139 |
|
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,382,962 |
L277I |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,057,461 |
D431V |
probably damaging |
Het |
| Dbx1 |
T |
C |
7: 49,636,517 |
S67G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,473,832 |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,631,681 |
T471S |
probably benign |
Het |
| Efcab8 |
A |
T |
2: 153,781,806 |
K70N |
probably benign |
Het |
| Gm5434 |
G |
A |
12: 36,090,636 |
|
probably benign |
Het |
| Grcc10 |
A |
T |
6: 124,740,970 |
M1K |
probably null |
Het |
| Higd2a |
G |
C |
13: 54,590,727 |
C53S |
probably damaging |
Het |
| Kcna4 |
C |
T |
2: 107,295,914 |
P331L |
probably damaging |
Het |
| Keg1 |
T |
A |
19: 12,718,943 |
S164T |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,310,159 |
V1031A |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,500,099 |
T737I |
possibly damaging |
Het |
| Olfr129 |
G |
A |
17: 38,054,988 |
L193F |
probably damaging |
Het |
| Olfr853 |
C |
T |
9: 19,537,906 |
R8K |
probably benign |
Het |
| Olfr855 |
T |
G |
9: 19,584,714 |
M59R |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,670,647 |
M202V |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,515,925 |
|
probably null |
Het |
| Tlr11 |
T |
C |
14: 50,362,527 |
F657L |
probably benign |
Het |
| Ttf2 |
G |
A |
3: 100,948,225 |
Q96* |
probably null |
Het |
| Zbbx |
C |
T |
3: 75,105,671 |
G151E |
probably damaging |
Het |
| Zfp810 |
C |
T |
9: 22,278,892 |
C240Y |
probably damaging |
Het |
|
|---|
| Other mutations in Afdn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Afdn
|
APN |
17 |
13884628 |
missense |
probably damaging |
1.00 |
|
IGL00784:Afdn
|
APN |
17 |
13849263 |
splice site |
probably benign |
|
|
IGL00971:Afdn
|
APN |
17 |
13852313 |
splice site |
probably benign |
|
|
IGL01403:Afdn
|
APN |
17 |
13903870 |
missense |
probably damaging |
1.00 |
|
IGL01944:Afdn
|
APN |
17 |
13810481 |
missense |
probably damaging |
1.00 |
|
IGL02474:Afdn
|
APN |
17 |
13818229 |
missense |
probably damaging |
1.00 |
|
IGL02615:Afdn
|
APN |
17 |
13825976 |
missense |
probably benign |
0.00 |
|
IGL02664:Afdn
|
APN |
17 |
13852466 |
splice site |
probably benign |
|
|
IGL03036:Afdn
|
APN |
17 |
13888088 |
missense |
probably benign |
0.12 |
|
jubilee
|
UTSW |
17 |
13887986 |
missense |
probably damaging |
1.00 |
|
IGL03134:Afdn
|
UTSW |
17 |
13846286 |
missense |
probably benign |
0.04 |
|
R0112:Afdn
|
UTSW |
17 |
13884637 |
missense |
probably damaging |
1.00 |
|
R0226:Afdn
|
UTSW |
17 |
13899146 |
missense |
probably benign |
0.00 |
|
R0305:Afdn
|
UTSW |
17 |
13888514 |
unclassified |
probably null |
|
|
R0310:Afdn
|
UTSW |
17 |
13885508 |
critical splice donor site |
probably null |
|
|
R0711:Afdn
|
UTSW |
17 |
13852436 |
missense |
probably damaging |
1.00 |
|
R0828:Afdn
|
UTSW |
17 |
13903998 |
missense |
probably damaging |
1.00 |
|
R1268:Afdn
|
UTSW |
17 |
13887986 |
missense |
probably damaging |
1.00 |
|
R1317:Afdn
|
UTSW |
17 |
13846273 |
missense |
probably benign |
0.11 |
|
R1386:Afdn
|
UTSW |
17 |
13846536 |
missense |
probably damaging |
1.00 |
|
R1438:Afdn
|
UTSW |
17 |
13855390 |
missense |
probably damaging |
1.00 |
|
R1607:Afdn
|
UTSW |
17 |
13810501 |
missense |
probably damaging |
1.00 |
|
R1819:Afdn
|
UTSW |
17 |
13850848 |
missense |
probably damaging |
1.00 |
|
R1872:Afdn
|
UTSW |
17 |
13881316 |
missense |
probably damaging |
1.00 |
|
R1880:Afdn
|
UTSW |
17 |
13852353 |
missense |
possibly damaging |
0.84 |
|
R2049:Afdn
|
UTSW |
17 |
13810433 |
missense |
probably damaging |
0.96 |
|
R2140:Afdn
|
UTSW |
17 |
13810433 |
missense |
probably damaging |
0.96 |
|
R2142:Afdn
|
UTSW |
17 |
13810433 |
missense |
probably damaging |
0.96 |
|
R2162:Afdn
|
UTSW |
17 |
13896174 |
missense |
probably benign |
0.01 |
|
R2221:Afdn
|
UTSW |
17 |
13883737 |
splice site |
probably benign |
|
|
R2223:Afdn
|
UTSW |
17 |
13883737 |
splice site |
probably benign |
|
|
R2291:Afdn
|
UTSW |
17 |
13888891 |
missense |
probably damaging |
1.00 |
|
R2993:Afdn
|
UTSW |
17 |
13891000 |
critical splice donor site |
probably null |
|
|
R3402:Afdn
|
UTSW |
17 |
13883914 |
missense |
probably damaging |
1.00 |
|
R3403:Afdn
|
UTSW |
17 |
13883914 |
missense |
probably damaging |
1.00 |
|
R3690:Afdn
|
UTSW |
17 |
13888409 |
missense |
probably damaging |
1.00 |
|
R3691:Afdn
|
UTSW |
17 |
13888409 |
missense |
probably damaging |
1.00 |
|
R3764:Afdn
|
UTSW |
17 |
13846589 |
missense |
probably benign |
0.07 |
|
R3832:Afdn
|
UTSW |
17 |
13896174 |
missense |
probably benign |
0.01 |
|
R4440:Afdn
|
UTSW |
17 |
13850890 |
missense |
probably damaging |
1.00 |
|
R4621:Afdn
|
UTSW |
17 |
13888820 |
missense |
probably damaging |
1.00 |
|
R4935:Afdn
|
UTSW |
17 |
13890966 |
missense |
probably benign |
0.30 |
|
R5279:Afdn
|
UTSW |
17 |
13888952 |
missense |
probably damaging |
1.00 |
|
R5421:Afdn
|
UTSW |
17 |
13832406 |
missense |
probably benign |
0.25 |
|
R5689:Afdn
|
UTSW |
17 |
13855359 |
missense |
probably damaging |
1.00 |
|
R6332:Afdn
|
UTSW |
17 |
13810445 |
missense |
possibly damaging |
0.92 |
|
R6369:Afdn
|
UTSW |
17 |
13835343 |
nonsense |
probably null |
|
|
R6433:Afdn
|
UTSW |
17 |
13881299 |
missense |
probably damaging |
1.00 |
|
R6467:Afdn
|
UTSW |
17 |
13804053 |
missense |
probably damaging |
1.00 |
|
R6500:Afdn
|
UTSW |
17 |
13822372 |
missense |
possibly damaging |
0.67 |
|
R6564:Afdn
|
UTSW |
17 |
13896089 |
missense |
probably benign |
|
|
R6705:Afdn
|
UTSW |
17 |
13888021 |
missense |
probably benign |
0.01 |
|
R6733:Afdn
|
UTSW |
17 |
13823353 |
missense |
probably benign |
0.39 |
|
R6983:Afdn
|
UTSW |
17 |
13881321 |
missense |
probably damaging |
1.00 |
|
X0060:Afdn
|
UTSW |
17 |
13818170 |
nonsense |
probably null |
|
|
X0064:Afdn
|
UTSW |
17 |
13888027 |
missense |
possibly damaging |
0.60 |
|
Z1088:Afdn
|
UTSW |
17 |
13883780 |
missense |
probably damaging |
1.00 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ATCGTCGTGGCTCAGGTAAAC -3'
(R):5'- CCCCTGACACACTTTTGTAGAG -3'
Sequencing Primer
(F):5'- GTGGCTCAGGTAAACCCAGAC -3'
(R):5'- ATGTATACTGAGTCAAGGGTTTTCTC -3'
|
|---|
| Posted On | 2015-04-29 |
|---|
