Incidental Mutation 'R2372:Rbpj'
| ID |
248161 |
| 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 |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53713121-53814787 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 53799537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037618]
[ENSMUST00000087360]
[ENSMUST00000113865]
[ENSMUST00000201883]
[ENSMUST00000201912]
[ENSMUST00000201991]
|
| AlphaFold |
P31266 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037618
|
| SMART Domains |
Protein: ENSMUSP00000040694
Gene: ENSMUSG00000039191
| 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 benign
Transcript: ENSMUST00000087360
|
| SMART Domains |
Protein: ENSMUSP00000084618
Gene: ENSMUSG00000039191
| 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 benign
Transcript: ENSMUST00000113865
|
| SMART Domains |
Protein: ENSMUSP00000109496
Gene: ENSMUSG00000039191
| 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 |
noncoding transcript
Transcript: ENSMUST00000200856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201883
|
| SMART Domains |
Protein: ENSMUSP00000143846
Gene: ENSMUSG00000039191
| 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 benign
Transcript: ENSMUST00000201912
|
| SMART Domains |
Protein: ENSMUSP00000143866
Gene: ENSMUSG00000039191
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202476
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
| Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (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 |
|
|
R3814:Rbpj
|
UTSW |
5 |
53,810,514 (GRCm39) |
nonsense |
probably null |
|
|
R4153:Rbpj
|
UTSW |
5 |
53,806,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGTGCTATGTTAGGGACCAATTTAG -3'
(R):5'- ATGCTACCCCGCACACTATG -3'
Sequencing Primer
(F):5'- TGTTAGGGACCAATTTAGTACATTG -3'
(R):5'- GCACACTATGAGCCAGCAGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation