Incidental Mutation 'IGL02982:Def8'
| ID |
406607 |
| 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 # |
IGL02982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 124183278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001522]
[ENSMUST00000065534]
[ENSMUST00000093049]
[ENSMUST00000108830]
[ENSMUST00000108832]
[ENSMUST00000124741]
[ENSMUST00000127664]
[ENSMUST00000212391]
[ENSMUST00000212883]
[ENSMUST00000212827]
[ENSMUST00000132063]
[ENSMUST00000128424]
|
| AlphaFold |
Q99J78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001522
|
| SMART Domains |
Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
| 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 |
probably benign
Transcript: ENSMUST00000065534
|
| SMART Domains |
Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
| 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 |
probably benign
Transcript: ENSMUST00000093049
|
| SMART Domains |
Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
| 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 |
probably benign
Transcript: ENSMUST00000108830
|
| SMART Domains |
Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
| 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 |
probably benign
Transcript: ENSMUST00000108832
|
| SMART Domains |
Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
| 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: ENSMUST00000124741
|
| SMART Domains |
Protein: ENSMUSP00000122532
Gene: ENSMUSG00000001482
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DUF4206
|
65 |
97 |
4e-15 |
BLAST |
|
| 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: ENSMUST00000212391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132063
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
T |
8: 25,294,447 (GRCm39) |
A384D |
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,157,590 (GRCm39) |
C961S |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,636,159 (GRCm39) |
C565Y |
probably damaging |
Het |
| Aox3 |
G |
A |
1: 58,166,846 (GRCm39) |
E190K |
probably benign |
Het |
| Arf2 |
T |
G |
11: 103,872,602 (GRCm39) |
D74E |
probably damaging |
Het |
| Bptf |
T |
G |
11: 106,967,500 (GRCm39) |
D960A |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,771,603 (GRCm39) |
F65L |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,944,992 (GRCm39) |
L1295P |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,392,595 (GRCm39) |
H1061R |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gldc |
A |
G |
19: 30,122,545 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
C |
16: 36,746,172 (GRCm39) |
D2917A |
probably damaging |
Het |
| Gpc5 |
G |
A |
14: 115,607,400 (GRCm39) |
C334Y |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,214,871 (GRCm39) |
L252Q |
probably damaging |
Het |
| Iars1 |
C |
T |
13: 49,863,185 (GRCm39) |
R546C |
probably benign |
Het |
| Kbtbd8 |
G |
T |
6: 95,103,547 (GRCm39) |
V399L |
probably benign |
Het |
| Kcnd2 |
A |
T |
6: 21,217,148 (GRCm39) |
D284V |
probably damaging |
Het |
| Kcnj6 |
T |
C |
16: 94,633,376 (GRCm39) |
K227R |
possibly damaging |
Het |
| Lhx9 |
A |
T |
1: 138,766,349 (GRCm39) |
H155Q |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,501,922 (GRCm39) |
V221A |
probably damaging |
Het |
| Myo9a |
A |
T |
9: 59,815,491 (GRCm39) |
K2237* |
probably null |
Het |
| Ntf3 |
A |
T |
6: 126,079,340 (GRCm39) |
D55E |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,865 (GRCm39) |
I84F |
probably benign |
Het |
| Or4c15b |
G |
T |
2: 89,113,453 (GRCm39) |
T29K |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,931,826 (GRCm39) |
I342F |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,574,182 (GRCm39) |
Y853H |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,945,632 (GRCm39) |
T401A |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,158,533 (GRCm39) |
T822A |
probably benign |
Het |
| Ptprq |
A |
C |
10: 107,422,545 (GRCm39) |
F1616V |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,305,998 (GRCm39) |
V19E |
probably damaging |
Het |
| Scamp2 |
G |
A |
9: 57,488,832 (GRCm39) |
A178T |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,135 (GRCm39) |
H299R |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,014,854 (GRCm39) |
I445V |
probably benign |
Het |
| Tas2r135 |
A |
G |
6: 42,383,187 (GRCm39) |
E242G |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,783 (GRCm39) |
V379A |
probably damaging |
Het |
| Unc5d |
C |
T |
8: 29,142,881 (GRCm39) |
G857E |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,929,739 (GRCm39) |
I43V |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,883,649 (GRCm39) |
M152K |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,833,094 (GRCm39) |
G133R |
probably damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,310,644 (GRCm39) |
T187M |
probably damaging |
Het |
| Zic2 |
A |
G |
14: 122,715,979 (GRCm39) |
E367G |
probably damaging |
Het |
|
| Other mutations in Def8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Def8
|
APN |
8 |
124,186,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation