Incidental Mutation 'R7770:Def8'
| ID |
598534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Def8
|
| Ensembl Gene |
ENSMUSG00000001482 |
| Gene Name |
differentially expressed in FDCP 8 |
| Synonyms |
D8Ertd713e |
| MMRRC Submission |
045826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R7770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124169725-124190009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124186798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 459
(D459E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090737
(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 |
unknown
Transcript: ENSMUST00000093049
AA Change: D459E
|
| SMART Domains |
Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: D459E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,894 (GRCm39) |
V160E |
probably damaging |
Het |
| Abhd8 |
C |
T |
8: 71,910,894 (GRCm39) |
G305S |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,231,579 (GRCm39) |
V870A |
probably benign |
Het |
| Agl |
A |
G |
3: 116,551,886 (GRCm39) |
|
probably null |
Het |
| Cav3 |
A |
T |
6: 112,449,147 (GRCm39) |
D55V |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,648,831 (GRCm39) |
D556V |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,193 (GRCm39) |
Y254H |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,317,223 (GRCm39) |
L182S |
probably damaging |
Het |
| Cyp1b1 |
G |
A |
17: 80,020,728 (GRCm39) |
A338V |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,943,214 (GRCm39) |
Y554C |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,665,460 (GRCm39) |
|
probably null |
Het |
| Dnajc5b |
T |
A |
3: 19,633,181 (GRCm39) |
C135S |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,293,890 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
C |
T |
5: 30,507,856 (GRCm39) |
Q293* |
probably null |
Het |
| Glmp |
A |
G |
3: 88,233,077 (GRCm39) |
S72G |
probably benign |
Het |
| Gm5431 |
A |
T |
11: 48,779,285 (GRCm39) |
S546T |
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,247,782 (GRCm39) |
C70S |
probably benign |
Het |
| Gpr83 |
G |
A |
9: 14,778,170 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,112 (GRCm39) |
L292Q |
possibly damaging |
Het |
| Gzmd |
T |
C |
14: 56,368,720 (GRCm39) |
D58G |
probably damaging |
Het |
| Hoxa10 |
A |
G |
6: 52,211,245 (GRCm39) |
S224P |
possibly damaging |
Het |
| Hoxa13 |
G |
A |
6: 52,237,247 (GRCm39) |
|
probably benign |
Het |
| Igsf6 |
A |
G |
7: 120,667,548 (GRCm39) |
V156A |
probably benign |
Het |
| Il6st |
A |
T |
13: 112,639,338 (GRCm39) |
I649F |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,147 (GRCm39) |
V507M |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,307,899 (GRCm39) |
I253T |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,406 (GRCm39) |
V56D |
possibly damaging |
Het |
| Mettl22 |
A |
T |
16: 8,303,764 (GRCm39) |
I277F |
possibly damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,359,740 (GRCm39) |
R411W |
probably damaging |
Het |
| Nrros |
T |
G |
16: 31,962,346 (GRCm39) |
E557A |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,254 (GRCm39) |
H162Q |
probably benign |
Het |
| Or5w1 |
T |
C |
2: 87,486,813 (GRCm39) |
I151V |
not run |
Het |
| Or8j3b |
C |
T |
2: 86,205,604 (GRCm39) |
V51M |
possibly damaging |
Het |
| Pih1d2 |
G |
A |
9: 50,533,101 (GRCm39) |
R243Q |
not run |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,977 (GRCm39) |
V90A |
probably benign |
Het |
| Prmt9 |
T |
A |
8: 78,285,814 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
| Rbm28 |
G |
A |
6: 29,164,627 (GRCm39) |
|
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,065,934 (GRCm39) |
S150T |
probably damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,161,512 (GRCm39) |
V195A |
probably benign |
Het |
| Sesn1 |
T |
A |
10: 41,770,054 (GRCm39) |
I99N |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,296,815 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,681,360 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,123 (GRCm39) |
I305T |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,884,687 (GRCm39) |
N3K |
unknown |
Het |
| Spta1 |
C |
A |
1: 174,023,547 (GRCm39) |
Y651* |
probably null |
Het |
| Tatdn3 |
G |
A |
1: 190,791,053 (GRCm39) |
P74S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,186,056 (GRCm39) |
R1127Q |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,657 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,903 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,517,299 (GRCm39) |
Y10H |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,679 (GRCm39) |
S407T |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,336 (GRCm39) |
C24R |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,070 (GRCm39) |
A465D |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,594 (GRCm39) |
S263P |
unknown |
Het |
| Zc3h15 |
T |
A |
2: 83,488,476 (GRCm39) |
I138N |
possibly 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 |
|
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 |
|
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'- CTCTGCAAAGAAGGGGACGT -3'
(R):5'- AGTAAGTTATGACTTATGCCCAAAAT -3'
Sequencing Primer
(F):5'- AAGAAGGGGACGTGCTCTTCC -3'
(R):5'- TACCACTAGACCTACCTCT -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation