Incidental Mutation 'IGL00228:Def8'
| ID |
2298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Def8
|
| Ensembl Gene |
ENSMUSG00000001482 |
| Gene Name |
differentially expressed in FDCP 8 |
| Synonyms |
D8Ertd713e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL00228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124186389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 400
(D400G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001522]
[ENSMUST00000065534]
[ENSMUST00000093049]
[ENSMUST00000108830]
[ENSMUST00000108832]
[ENSMUST00000127664]
[ENSMUST00000128424]
|
| AlphaFold |
Q99J78 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001522
AA Change: D388G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: D388G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
77 |
133 |
8e-28 |
BLAST |
|
C1
|
148 |
198 |
4.12e-3 |
SMART |
|
DUF4206
|
243 |
447 |
4.01e-121 |
SMART |
|
C1
|
385 |
437 |
1.5e0 |
SMART |
|
RING
|
399 |
440 |
4.86e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065534
AA Change: D376G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: D376G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
121 |
7e-28 |
BLAST |
|
C1
|
136 |
186 |
4.12e-3 |
SMART |
|
DUF4206
|
231 |
435 |
4.01e-121 |
SMART |
|
C1
|
373 |
425 |
1.5e0 |
SMART |
|
RING
|
387 |
428 |
4.86e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093049
AA Change: D376G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: D376G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
121 |
9e-28 |
BLAST |
|
C1
|
136 |
186 |
4.12e-3 |
SMART |
|
DUF4206
|
231 |
429 |
6.85e-106 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108830
AA Change: D376G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: D376G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
121 |
7e-28 |
BLAST |
|
C1
|
136 |
186 |
4.12e-3 |
SMART |
|
DUF4206
|
231 |
435 |
4.01e-121 |
SMART |
|
C1
|
373 |
425 |
1.5e0 |
SMART |
|
RING
|
387 |
428 |
4.86e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108832
AA Change: D400G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: D400G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
89 |
145 |
9e-28 |
BLAST |
|
C1
|
160 |
210 |
4.12e-3 |
SMART |
|
DUF4206
|
255 |
459 |
4.01e-121 |
SMART |
|
C1
|
397 |
449 |
1.5e0 |
SMART |
|
RING
|
411 |
452 |
4.86e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128424
|
| SMART Domains |
Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
77 |
133 |
4e-30 |
BLAST |
|
C1
|
148 |
198 |
4.12e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
| Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
| Crtc1 |
T |
C |
8: 70,892,172 (GRCm39) |
K13E |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
| Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,063,770 (GRCm39) |
M1L |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
| Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
| Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
| Rtca |
A |
G |
3: 116,298,110 (GRCm39) |
C100R |
probably damaging |
Het |
| Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
| Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,029,814 (GRCm39) |
V167M |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
| Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,066 (GRCm39) |
V335E |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
| Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
| Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
| Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,781,015 (GRCm39) |
V679A |
probably benign |
Het |
|
| Other mutations in Def8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01896:Def8
|
APN |
8 |
124,186,634 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02424:Def8
|
APN |
8 |
124,186,387 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02982:Def8
|
APN |
8 |
124,183,278 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03218:Def8
|
APN |
8 |
124,183,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
defensive
|
UTSW |
8 |
124,181,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Def8
|
UTSW |
8 |
124,186,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0003:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0117:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0119:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0135:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0138:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0141:Def8
|
UTSW |
8 |
124,183,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0408:Def8
|
UTSW |
8 |
124,186,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Def8
|
UTSW |
8 |
124,181,096 (GRCm39) |
nonsense |
probably null |
|
|
R3890:Def8
|
UTSW |
8 |
124,185,083 (GRCm39) |
unclassified |
probably benign |
|
|
R3891:Def8
|
UTSW |
8 |
124,185,083 (GRCm39) |
unclassified |
probably benign |
|
|
R3892:Def8
|
UTSW |
8 |
124,185,083 (GRCm39) |
unclassified |
probably benign |
|
|
R4904:Def8
|
UTSW |
8 |
124,188,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5930:Def8
|
UTSW |
8 |
124,186,809 (GRCm39) |
unclassified |
probably benign |
|
|
R6088:Def8
|
UTSW |
8 |
124,186,787 (GRCm39) |
nonsense |
probably null |
|
|
R6577:Def8
|
UTSW |
8 |
124,183,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7446:Def8
|
UTSW |
8 |
124,181,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Def8
|
UTSW |
8 |
124,174,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Def8
|
UTSW |
8 |
124,186,798 (GRCm39) |
missense |
unknown |
|
|
R7827:Def8
|
UTSW |
8 |
124,174,060 (GRCm39) |
missense |
probably benign |
|
|
R8186:Def8
|
UTSW |
8 |
124,188,215 (GRCm39) |
nonsense |
probably null |
|
|
R8256:Def8
|
UTSW |
8 |
124,186,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Def8
|
UTSW |
8 |
124,182,238 (GRCm39) |
nonsense |
probably null |
|
|
R9026:Def8
|
UTSW |
8 |
124,186,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Def8
|
UTSW |
8 |
124,186,317 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9359:Def8
|
UTSW |
8 |
124,185,105 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1088:Def8
|
UTSW |
8 |
124,183,237 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Def8
|
UTSW |
8 |
124,186,705 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2011-12-09 |
Incidental Mutation