Incidental Mutation 'R2655:Junb'
| ID |
252664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Junb
|
| Ensembl Gene |
ENSMUSG00000052837 |
| Gene Name |
jun B proto-oncogene |
| Synonyms |
|
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85703538-85705377 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85704137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 308
(S308P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005292]
[ENSMUST00000064922]
[ENSMUST00000109733]
[ENSMUST00000109734]
[ENSMUST00000164807]
|
| AlphaFold |
P09450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005292
|
| SMART Domains |
Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
157 |
3.9e-20 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
5.6e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064922
AA Change: S308P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064680
Gene: ENSMUSG00000052837
AA Change: S308P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jun
|
5 |
254 |
6.1e-81 |
PFAM |
|
BRLZ
|
263 |
327 |
1.77e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109733
|
| SMART Domains |
Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
159 |
1.3e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
1.3e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109734
|
| SMART Domains |
Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
159 |
1.3e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
1.3e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164807
|
| SMART Domains |
Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
159 |
1.3e-21 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
141 |
1.3e-44 |
PFAM |
|
Pfam:1-cysPrx_C
|
161 |
196 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209372
|
| Meta Mutation Damage Score |
0.3466 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mutants die between embryonic day 8.5-10 due to impaired placental development. Embryos are severely growth retarded, but cell proliferation is normal, reflecting a failure to establish vascular interactions with the maternal circulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Junb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0032:Junb
|
UTSW |
8 |
85,704,415 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0347:Junb
|
UTSW |
8 |
85,705,107 (GRCm39) |
unclassified |
probably benign |
|
|
R1219:Junb
|
UTSW |
8 |
85,704,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Junb
|
UTSW |
8 |
85,704,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Junb
|
UTSW |
8 |
85,705,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4484:Junb
|
UTSW |
8 |
85,704,517 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4718:Junb
|
UTSW |
8 |
85,705,061 (GRCm39) |
unclassified |
probably benign |
|
|
R4965:Junb
|
UTSW |
8 |
85,704,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Junb
|
UTSW |
8 |
85,704,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6262:Junb
|
UTSW |
8 |
85,704,359 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6899:Junb
|
UTSW |
8 |
85,704,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7355:Junb
|
UTSW |
8 |
85,705,013 (GRCm39) |
missense |
probably benign |
|
|
R7586:Junb
|
UTSW |
8 |
85,704,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8274:Junb
|
UTSW |
8 |
85,705,058 (GRCm39) |
start codon destroyed |
possibly damaging |
0.75 |
|
R9116:Junb
|
UTSW |
8 |
85,704,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCACAGTACTATGCAGAGGG -3'
(R):5'- TTTAAAGAGGAACCGCAGACC -3'
Sequencing Primer
(F):5'- AGGGGGCCATGTAAACCTC -3'
(R):5'- GAGGAACCGCAGACCGTACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation