Incidental Mutation 'R2971:Ctnnbl1'
ID |
265662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctnnbl1
|
Ensembl Gene |
ENSMUSG00000027649 |
Gene Name |
catenin, beta like 1 |
Synonyms |
NYD-SP19, 5730471K09Rik, P14L, FLJ21108 |
MMRRC Submission |
040525-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R2971 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
157579321-157733534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 157713106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 464
(H464Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029178]
|
AlphaFold |
Q9CWL8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029178
AA Change: H464Y
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000029178 Gene: ENSMUSG00000027649 AA Change: H464Y
Domain | Start | End | E-Value | Type |
DUF1716
|
52 |
162 |
3.97e-61 |
SMART |
|
Meta Mutation Damage Score |
0.1043 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (35/35) |
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 component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] PHENOTYPE:
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
probably damaging |
Het |
|
Other mutations in Ctnnbl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00754:Ctnnbl1
|
APN |
2 |
157,661,461 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01374:Ctnnbl1
|
APN |
2 |
157,678,613 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01504:Ctnnbl1
|
APN |
2 |
157,660,036 (GRCm39) |
splice site |
probably benign |
|
IGL01622:Ctnnbl1
|
APN |
2 |
157,661,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01623:Ctnnbl1
|
APN |
2 |
157,661,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02146:Ctnnbl1
|
APN |
2 |
157,661,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Ctnnbl1
|
APN |
2 |
157,726,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03104:Ctnnbl1
|
APN |
2 |
157,732,885 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03164:Ctnnbl1
|
APN |
2 |
157,659,681 (GRCm39) |
missense |
probably benign |
|
R0482:Ctnnbl1
|
UTSW |
2 |
157,713,110 (GRCm39) |
critical splice donor site |
probably null |
|
R0826:Ctnnbl1
|
UTSW |
2 |
157,641,337 (GRCm39) |
splice site |
probably benign |
|
R0827:Ctnnbl1
|
UTSW |
2 |
157,641,337 (GRCm39) |
splice site |
probably benign |
|
R0862:Ctnnbl1
|
UTSW |
2 |
157,641,337 (GRCm39) |
splice site |
probably benign |
|
R0863:Ctnnbl1
|
UTSW |
2 |
157,641,337 (GRCm39) |
splice site |
probably benign |
|
R0864:Ctnnbl1
|
UTSW |
2 |
157,641,337 (GRCm39) |
splice site |
probably benign |
|
R1466:Ctnnbl1
|
UTSW |
2 |
157,641,337 (GRCm39) |
splice site |
probably benign |
|
R1533:Ctnnbl1
|
UTSW |
2 |
157,678,563 (GRCm39) |
missense |
probably benign |
|
R3522:Ctnnbl1
|
UTSW |
2 |
157,713,113 (GRCm39) |
splice site |
probably null |
|
R4296:Ctnnbl1
|
UTSW |
2 |
157,661,490 (GRCm39) |
splice site |
probably null |
|
R4982:Ctnnbl1
|
UTSW |
2 |
157,678,473 (GRCm39) |
missense |
probably benign |
0.01 |
R5396:Ctnnbl1
|
UTSW |
2 |
157,659,752 (GRCm39) |
splice site |
probably null |
|
R5857:Ctnnbl1
|
UTSW |
2 |
157,631,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R7710:Ctnnbl1
|
UTSW |
2 |
157,616,491 (GRCm39) |
missense |
probably benign |
0.00 |
R7769:Ctnnbl1
|
UTSW |
2 |
157,579,390 (GRCm39) |
start gained |
probably benign |
|
R8134:Ctnnbl1
|
UTSW |
2 |
157,651,391 (GRCm39) |
missense |
probably benign |
0.19 |
R8324:Ctnnbl1
|
UTSW |
2 |
157,621,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R8384:Ctnnbl1
|
UTSW |
2 |
157,659,980 (GRCm39) |
missense |
probably benign |
0.01 |
R8430:Ctnnbl1
|
UTSW |
2 |
157,678,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R9116:Ctnnbl1
|
UTSW |
2 |
157,648,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9244:Ctnnbl1
|
UTSW |
2 |
157,678,583 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9350:Ctnnbl1
|
UTSW |
2 |
157,651,445 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGCTCATCCCCATGTCAG -3'
(R):5'- AACCACTTGAAGGGTAGTTACAC -3'
Sequencing Primer
(F):5'- TCATCCCCATGTCAGAAGTGG -3'
(R):5'- TGACCTCTGTGGAAATGCAC -3'
|
Posted On |
2015-02-05 |