Incidental Mutation 'IGL02424:Def8'
| ID |
292842 |
| 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: 0.157)
|
| Stock # |
IGL02424
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 124186387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 399
(L399F)
|
| 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: L387F
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: L387F
| 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: L375F
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: L375F
| 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: L375F
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: L375F
| 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: L375F
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: L375F
| 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: L399F
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: L399F
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,880,466 (GRCm39) |
|
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abl1 |
G |
A |
2: 31,691,144 (GRCm39) |
V888I |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,106,461 (GRCm39) |
N884K |
probably damaging |
Het |
| Alyref |
T |
C |
11: 120,486,133 (GRCm39) |
N176D |
probably benign |
Het |
| Amtn |
T |
C |
5: 88,529,456 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,246,833 (GRCm39) |
Y761H |
probably damaging |
Het |
| Cckar |
T |
A |
5: 53,863,770 (GRCm39) |
T64S |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,142,340 (GRCm39) |
F1521S |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,085 (GRCm39) |
T198A |
probably benign |
Het |
| Epha7 |
A |
T |
4: 28,948,790 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,665,589 (GRCm39) |
Y181* |
probably null |
Het |
| Fas |
A |
T |
19: 34,304,434 (GRCm39) |
M232L |
probably damaging |
Het |
| Fkbp10 |
T |
A |
11: 100,306,782 (GRCm39) |
V37E |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,132 (GRCm39) |
|
probably null |
Het |
| Gdap1 |
T |
C |
1: 17,231,402 (GRCm39) |
V249A |
probably damaging |
Het |
| Gm5356 |
T |
A |
8: 89,913,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7732 |
A |
G |
17: 21,349,709 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr3 |
G |
T |
4: 132,938,405 (GRCm39) |
A89E |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,601,973 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
G |
5: 75,799,766 (GRCm39) |
D499E |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,143 (GRCm39) |
L666P |
probably benign |
Het |
| Mmp2 |
T |
G |
8: 93,562,635 (GRCm39) |
C291G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,154,203 (GRCm39) |
Y2303H |
probably damaging |
Het |
| Or14a259 |
C |
A |
7: 86,012,688 (GRCm39) |
V286L |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,299 (GRCm39) |
M268K |
probably benign |
Het |
| Or1o2 |
T |
C |
17: 37,543,263 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,436,646 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
A |
C |
13: 27,851,953 (GRCm39) |
C9G |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,477,469 (GRCm39) |
V327A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,770,189 (GRCm39) |
I516F |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,488,267 (GRCm39) |
T140I |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,568,200 (GRCm39) |
V395A |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,280,247 (GRCm39) |
C37* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
| Strn |
A |
G |
17: 78,991,780 (GRCm39) |
S180P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,064 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,314,585 (GRCm39) |
I49V |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,426,564 (GRCm39) |
P387L |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,233,565 (GRCm39) |
M183K |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation