Incidental Mutation 'R4153:Rbpj'
| ID |
314985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbpj
|
| Ensembl Gene |
ENSMUSG00000039191 |
| Gene Name |
recombination signal binding protein for immunoglobulin kappa J region |
| Synonyms |
Igkrsbp, RBPjk, Igkjrb, RBP-J kappa, Rbpsuh, CBF1 |
| MMRRC Submission |
040997-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4153 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53713121-53814787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53806789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 230
(H230Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037618]
[ENSMUST00000087360]
[ENSMUST00000113865]
[ENSMUST00000201883]
[ENSMUST00000201912]
[ENSMUST00000201991]
|
| AlphaFold |
P31266 |
| PDB Structure |
CSL (RBP-Jk) bound to DNA [X-RAY DIFFRACTION]
CSL (RBP-Jk) bound to HES-1 nonconsensus site [X-RAY DIFFRACTION]
CSL (RBP-Jk) with corepressor KyoT2 bound to DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037618
AA Change: H230Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
AA Change: H230Q
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
73 |
204 |
2.97e-86 |
SMART |
|
BTD
|
205 |
354 |
8.01e-92 |
SMART |
|
SCOP:d1a02n1
|
380 |
472 |
8e-29 |
SMART |
|
low complexity region
|
508 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087360
AA Change: H189Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
AA Change: H189Q
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
32 |
163 |
2.97e-86 |
SMART |
|
BTD
|
164 |
313 |
8.01e-92 |
SMART |
|
Pfam:TIG
|
340 |
429 |
3.6e-9 |
PFAM |
|
low complexity region
|
467 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113865
AA Change: H191Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
AA Change: H191Q
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
34 |
165 |
2.97e-86 |
SMART |
|
BTD
|
166 |
315 |
8.01e-92 |
SMART |
|
Pfam:TIG
|
342 |
431 |
6.1e-9 |
PFAM |
|
low complexity region
|
469 |
487 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201883
AA Change: H169Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
AA Change: H169Q
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
12 |
143 |
2.3e-90 |
SMART |
|
BTD
|
144 |
293 |
6e-96 |
SMART |
|
SCOP:d1a02n1
|
319 |
411 |
4e-29 |
SMART |
|
low complexity region
|
447 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201912
AA Change: H211Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
AA Change: H211Q
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
54 |
185 |
2.97e-86 |
SMART |
|
BTD
|
186 |
335 |
8.01e-92 |
SMART |
|
SCOP:d1a02n1
|
361 |
453 |
6e-29 |
SMART |
|
low complexity region
|
489 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201928
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201991
|
| SMART Domains |
Protein: ENSMUSP00000144617
Gene: ENSMUSG00000039191
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
42 |
173 |
2.3e-90 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202092
|
| Meta Mutation Damage Score |
0.3690 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit complete prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
| 4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
| Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,738,257 (GRCm39) |
F602S |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
| Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
| Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
| Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or56a3b |
A |
T |
7: 104,771,516 (GRCm39) |
H284L |
probably damaging |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,445,766 (GRCm39) |
V126I |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
| Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Tubd1 |
G |
A |
11: 86,440,296 (GRCm39) |
G107S |
probably damaging |
Het |
| Ugt1a6a |
A |
G |
1: 88,066,193 (GRCm39) |
|
probably null |
Het |
| Uty |
A |
G |
Y: 1,158,327 (GRCm39) |
V572A |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rbpj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01895:Rbpj
|
APN |
5 |
53,808,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:Rbpj
|
APN |
5 |
53,799,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0676:Rbpj
|
UTSW |
5 |
53,803,390 (GRCm39) |
splice site |
probably benign |
|
|
R2372:Rbpj
|
UTSW |
5 |
53,799,537 (GRCm39) |
splice site |
probably benign |
|
|
R3814:Rbpj
|
UTSW |
5 |
53,810,514 (GRCm39) |
nonsense |
probably null |
|
|
R5023:Rbpj
|
UTSW |
5 |
53,806,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Rbpj
|
UTSW |
5 |
53,806,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Rbpj
|
UTSW |
5 |
53,799,425 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6088:Rbpj
|
UTSW |
5 |
53,808,710 (GRCm39) |
splice site |
probably null |
|
|
R6885:Rbpj
|
UTSW |
5 |
53,810,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Rbpj
|
UTSW |
5 |
53,758,276 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7653:Rbpj
|
UTSW |
5 |
53,747,693 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7703:Rbpj
|
UTSW |
5 |
53,803,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Rbpj
|
UTSW |
5 |
53,803,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Rbpj
|
UTSW |
5 |
53,799,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Rbpj
|
UTSW |
5 |
53,807,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9284:Rbpj
|
UTSW |
5 |
53,810,724 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9290:Rbpj
|
UTSW |
5 |
53,810,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACCAGAATCTGTTTGTTATTTG -3'
(R):5'- TGGAAACAGACCAATGGTTATCC -3'
Sequencing Primer
(F):5'- AAATAGGATCCCCCTGTC -3'
(R):5'- AACAGACCAATGGTTATCCTTTAAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation