Incidental Mutation 'R8887:Afdn'
| ID |
677445 |
| 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 |
068752-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 14116401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1620
(R1620*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
| AlphaFold |
Q9QZQ1 |
| PDB Structure |
Solution structure of the FHA domain of mouse Afadin 6 [SOLUTION NMR]
Solution Structure of Ras-binding Domain in Mouse AF-6 Protein [SOLUTION NMR]
Crystal structure of afadin PDZ domain in complex with the C-terminal peptide from nectin-3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137531
AA Change: R179*
|
| SMART Domains |
Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036
AA Change: R179*
| 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 null
Transcript: ENSMUST00000137708
AA Change: R1632*
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: R1632*
| 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
AA Change: R1627*
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: R1627*
| 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
AA Change: R1620*
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: R1620*
| 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
AA Change: R1605*
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: R1605*
| 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
AA Change: R1605*
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: R1605*
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (93/95) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
T |
C |
17: 57,175,285 (GRCm39) |
T76A |
probably benign |
Het |
| Actn1 |
A |
G |
12: 80,215,197 (GRCm39) |
C860R |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,554,744 (GRCm39) |
L170Q |
probably damaging |
Het |
| Agfg1 |
A |
G |
1: 82,848,525 (GRCm39) |
|
probably benign |
Het |
| Aire |
A |
G |
10: 77,870,298 (GRCm39) |
S476P |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,401 (GRCm39) |
T162A |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,113,222 (GRCm39) |
Q487R |
probably null |
Het |
| BC048507 |
T |
A |
13: 68,011,628 (GRCm39) |
C2S |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,087,503 (GRCm39) |
A615S |
possibly damaging |
Het |
| Bnc2 |
A |
C |
4: 84,209,707 (GRCm39) |
|
probably benign |
Het |
| Bop1 |
C |
T |
15: 76,338,524 (GRCm39) |
G473R |
probably damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,379 (GRCm39) |
E75G |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,258,894 (GRCm39) |
V1201A |
possibly damaging |
Het |
| Cecr2 |
C |
A |
6: 120,715,162 (GRCm39) |
T249K |
probably damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,790,810 (GRCm39) |
G421* |
probably null |
Het |
| Clec1b |
A |
T |
6: 129,378,703 (GRCm39) |
|
probably null |
Het |
| Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
| Col15a1 |
A |
G |
4: 47,287,091 (GRCm39) |
Q843R |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,948 (GRCm39) |
S114G |
probably benign |
Het |
| Corin |
A |
T |
5: 72,486,953 (GRCm39) |
|
probably null |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,503 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,229,270 (GRCm39) |
L51P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,673,989 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,051,481 (GRCm39) |
V299E |
probably benign |
Het |
| Dlgap2 |
G |
A |
8: 14,229,682 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,032,997 (GRCm39) |
L346P |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,746,210 (GRCm39) |
T3968A |
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,120,044 (GRCm39) |
M822R |
probably null |
Het |
| E2f7 |
A |
T |
10: 110,610,674 (GRCm39) |
Q433L |
probably benign |
Het |
| Eif3k |
A |
C |
7: 28,679,901 (GRCm39) |
Y42* |
probably null |
Het |
| Elmod3 |
A |
G |
6: 72,563,494 (GRCm39) |
S45P |
probably damaging |
Het |
| Emilin3 |
C |
A |
2: 160,751,108 (GRCm39) |
V214F |
possibly damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,058,887 (GRCm39) |
F283L |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,876,549 (GRCm39) |
Y358H |
|
Het |
| G430095P16Rik |
A |
G |
8: 85,453,043 (GRCm39) |
N10S |
unknown |
Het |
| Gldc |
A |
G |
19: 30,111,156 (GRCm39) |
V540A |
possibly damaging |
Het |
| Gm3667 |
T |
A |
14: 18,271,553 (GRCm39) |
E67D |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,353,626 (GRCm39) |
|
probably benign |
Het |
| H60c |
T |
C |
10: 3,217,255 (GRCm39) |
E38G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,433,541 (GRCm39) |
D952G |
probably benign |
Het |
| Hoxb8 |
T |
A |
11: 96,175,223 (GRCm39) |
L220Q |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,050 (GRCm39) |
L1679M |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,802,480 (GRCm39) |
Y118F |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,868,880 (GRCm39) |
T456S |
probably benign |
Het |
| Ighg3 |
G |
A |
12: 113,323,845 (GRCm39) |
T181I |
|
Het |
| Ighv1-66 |
C |
A |
12: 115,557,032 (GRCm39) |
V17F |
probably damaging |
Het |
| Ighv5-12-4 |
A |
G |
12: 113,726,130 (GRCm39) |
V31A |
possibly damaging |
Het |
| Ints12 |
T |
A |
3: 132,815,003 (GRCm39) |
N403K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
A |
C |
16: 34,047,496 (GRCm39) |
N908K |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,962,016 (GRCm39) |
V20I |
unknown |
Het |
| Krt78 |
G |
T |
15: 101,861,746 (GRCm39) |
L167M |
probably damaging |
Het |
| Ldb1 |
T |
C |
19: 46,023,294 (GRCm39) |
E206G |
probably damaging |
Het |
| Lig1 |
A |
G |
7: 13,030,713 (GRCm39) |
Y455C |
probably damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,486,077 (GRCm39) |
I34S |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,454,758 (GRCm39) |
I1216T |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,706,800 (GRCm39) |
V229A |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,745,526 (GRCm39) |
|
probably null |
Het |
| Mroh1 |
A |
G |
15: 76,331,474 (GRCm39) |
T1233A |
probably benign |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,271 (GRCm39) |
H234Q |
probably damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,175,665 (GRCm39) |
P549S |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,624,642 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,852,269 (GRCm39) |
V47A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,846 (GRCm39) |
V199D |
possibly damaging |
Het |
| Or5w22 |
A |
G |
2: 87,363,187 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,372 (GRCm39) |
Y179* |
probably null |
Het |
| Padi3 |
A |
T |
4: 140,523,795 (GRCm39) |
C228* |
probably null |
Het |
| Palld |
T |
A |
8: 61,986,512 (GRCm39) |
D1015V |
unknown |
Het |
| Pcna-ps2 |
A |
T |
19: 9,261,488 (GRCm39) |
Y249F |
probably benign |
Het |
| Pelo |
C |
T |
13: 115,225,451 (GRCm39) |
C258Y |
probably benign |
Het |
| Ppp1r13b |
A |
T |
12: 111,803,430 (GRCm39) |
|
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,539,257 (GRCm39) |
F79L |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,771 (GRCm39) |
W840R |
probably damaging |
Het |
| Prkcg |
A |
G |
7: 3,370,857 (GRCm39) |
D428G |
possibly damaging |
Het |
| Pus7 |
G |
A |
5: 23,948,476 (GRCm39) |
R571* |
probably null |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,927 (GRCm39) |
C409R |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,434,522 (GRCm39) |
D186G |
probably damaging |
Het |
| Rslcan18 |
T |
A |
13: 67,246,793 (GRCm39) |
H273L |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,559,289 (GRCm39) |
|
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,788,540 (GRCm39) |
|
probably null |
Het |
| Siglecg |
T |
A |
7: 43,058,008 (GRCm39) |
S9T |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,139,258 (GRCm39) |
F159L |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,758,009 (GRCm39) |
I183V |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,110 (GRCm39) |
M103V |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,187,059 (GRCm39) |
D42G |
possibly damaging |
Het |
| Tlr5 |
C |
A |
1: 182,801,332 (GRCm39) |
T212K |
probably benign |
Het |
| Trim43b |
T |
G |
9: 88,969,642 (GRCm39) |
I269L |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,047,492 (GRCm39) |
L697P |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,549,239 (GRCm39) |
T31813P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,571,932 (GRCm39) |
D26320E |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,307,061 (GRCm39) |
|
probably null |
Het |
| Usp1 |
C |
G |
4: 98,819,185 (GRCm39) |
Q216E |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,026 (GRCm39) |
T645A |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,599,850 (GRCm39) |
P559H |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,056,315 (GRCm39) |
Y247C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,219 (GRCm39) |
N163K |
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 |
|
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 |
|
|
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'- ACAACAGTGATTTAGCCTGGTG -3'
(R):5'- AGATGCAGCCCTGTTCTGTC -3'
Sequencing Primer
(F):5'- CAACAGTGATTTAGCCTGGTGTTTTC -3'
(R):5'- AGATGCAGCCCTGTTCTGTCTTATG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation