Incidental Mutation 'R3891:Def8'
| ID |
310398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Def8
|
| Ensembl Gene |
ENSMUSG00000001482 |
| Gene Name |
differentially expressed in FDCP 8 |
| Synonyms |
D8Ertd713e |
| MMRRC Submission |
040803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R3891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 124185083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001522]
[ENSMUST00000065534]
[ENSMUST00000093049]
[ENSMUST00000108830]
[ENSMUST00000108832]
[ENSMUST00000127664]
[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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
| C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
| Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
| Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
| Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
| Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
| Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,350 (GRCm39) |
D24G |
unknown |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
| Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
| Stard10 |
G |
A |
7: 100,993,137 (GRCm39) |
R231Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,857,651 (GRCm39) |
E49G |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAATGTAGGACCATCCAGTG -3'
(R):5'- GGCTCAAACTGCAGCTAGAAG -3'
Sequencing Primer
(F):5'- CATCCAGTGGAATTTGAGGGCAC -3'
(R):5'- CTGCAGCTAGAAGTAACAATGTATCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation