Incidental Mutation 'IGL01625:Rbpjl'
| ID |
92728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbpjl
|
| Ensembl Gene |
ENSMUSG00000017007 |
| Gene Name |
recombination signal binding protein for immunoglobulin kappa J region-like |
| Synonyms |
Rbpsuhl, RBP-J kappa-like, RBP-L |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164245061-164257368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 164249705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 102
(K102R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017151]
[ENSMUST00000103103]
[ENSMUST00000103104]
[ENSMUST00000109358]
[ENSMUST00000109359]
|
| AlphaFold |
O08674 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017151
AA Change: K102R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007
AA Change: K102R
| Domain | Start | End | E-Value | Type |
|---|
|
LAG1_DNAbind
|
66 |
204 |
4.58e-78 |
SMART |
|
BTD
|
205 |
357 |
1.23e-83 |
SMART |
|
SCOP:d1a02n1
|
383 |
475 |
3e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103103
|
| SMART Domains |
Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
1.04e-3 |
SMART |
|
EGF
|
261 |
298 |
3.43e-4 |
SMART |
|
EGF
|
302 |
339 |
1.85e0 |
SMART |
|
EGF
|
343 |
380 |
1.24e-1 |
SMART |
|
VWA
|
386 |
564 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
574 |
621 |
2.39e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103104
|
| SMART Domains |
Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
1.04e-3 |
SMART |
|
EGF
|
261 |
298 |
3.43e-4 |
SMART |
|
EGF
|
302 |
339 |
1.85e0 |
SMART |
|
EGF
|
343 |
380 |
1.24e-1 |
SMART |
|
VWA
|
386 |
564 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
574 |
621 |
2.39e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109358
|
| SMART Domains |
Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
1.85e0 |
SMART |
|
EGF
|
261 |
298 |
1.24e-1 |
SMART |
|
VWA
|
304 |
482 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
492 |
539 |
2.39e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109359
|
| SMART Domains |
Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
34 |
209 |
8.6e-54 |
SMART |
|
EGF
|
220 |
257 |
3.43e-4 |
SMART |
|
EGF
|
261 |
298 |
1.85e0 |
SMART |
|
EGF
|
302 |
339 |
1.24e-1 |
SMART |
|
VWA
|
345 |
523 |
6.72e-56 |
SMART |
|
Matrilin_ccoil
|
533 |
580 |
2.39e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154940
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene do not display any obvious phenotype abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
| Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
| Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
| Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
| Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
| Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
| Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
| Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
| Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
| Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
| Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
| Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
| Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rbpjl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02429:Rbpjl
|
APN |
2 |
164,255,815 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2155:Rbpjl
|
UTSW |
2 |
164,256,343 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2244:Rbpjl
|
UTSW |
2 |
164,245,137 (GRCm39) |
intron |
probably benign |
|
|
R2344:Rbpjl
|
UTSW |
2 |
164,256,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4721:Rbpjl
|
UTSW |
2 |
164,246,447 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5023:Rbpjl
|
UTSW |
2 |
164,252,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5492:Rbpjl
|
UTSW |
2 |
164,256,330 (GRCm39) |
frame shift |
probably null |
|
|
R5493:Rbpjl
|
UTSW |
2 |
164,256,330 (GRCm39) |
frame shift |
probably null |
|
|
R5494:Rbpjl
|
UTSW |
2 |
164,256,330 (GRCm39) |
frame shift |
probably null |
|
|
R5556:Rbpjl
|
UTSW |
2 |
164,249,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5796:Rbpjl
|
UTSW |
2 |
164,252,168 (GRCm39) |
splice site |
probably benign |
|
|
R6164:Rbpjl
|
UTSW |
2 |
164,252,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Rbpjl
|
UTSW |
2 |
164,247,734 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8025:Rbpjl
|
UTSW |
2 |
164,252,166 (GRCm39) |
splice site |
probably benign |
|
|
R8068:Rbpjl
|
UTSW |
2 |
164,250,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8251:Rbpjl
|
UTSW |
2 |
164,255,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8928:Rbpjl
|
UTSW |
2 |
164,250,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation