Incidental Mutation 'IGL00754:Ctnnbl1'
| ID |
9932 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctnnbl1
|
| Ensembl Gene |
ENSMUSG00000027649 |
| Gene Name |
catenin, beta like 1 |
| Synonyms |
NYD-SP19, 5730471K09Rik, P14L, FLJ21108 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL00754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
157579321-157733534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157661461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 324
(S324C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029178]
|
| AlphaFold |
Q9CWL8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029178
AA Change: S324C
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: S324C
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1716
|
52 |
162 |
3.97e-61 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156300
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,848,040 (GRCm39) |
G483R |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,150,968 (GRCm39) |
I816V |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,232 (GRCm39) |
Q77R |
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,386,649 (GRCm39) |
|
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,036 (GRCm39) |
M697V |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Chrnd |
A |
C |
1: 87,123,506 (GRCm39) |
E348A |
probably benign |
Het |
| Dgkb |
C |
A |
12: 38,488,567 (GRCm39) |
N644K |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,051,697 (GRCm39) |
L1720* |
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,197,967 (GRCm39) |
|
probably benign |
Het |
| Eif1b |
G |
T |
9: 120,323,686 (GRCm39) |
C94F |
probably benign |
Het |
| Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,860,837 (GRCm39) |
G96R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,031,026 (GRCm39) |
V86A |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,389 (GRCm39) |
S131R |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,591,708 (GRCm39) |
T382A |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,645,069 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,659,741 (GRCm39) |
D1627G |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,092,221 (GRCm39) |
F406I |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,661,843 (GRCm39) |
L28S |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,026,645 (GRCm39) |
F1255L |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,616,559 (GRCm39) |
S73T |
probably benign |
Het |
| Tnip2 |
T |
C |
5: 34,656,643 (GRCm39) |
I221V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,429 (GRCm39) |
I8859T |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,348 (GRCm39) |
S907P |
possibly damaging |
Het |
| Utp25 |
G |
T |
1: 192,797,309 (GRCm39) |
N514K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,539,236 (GRCm39) |
V1927A |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,070,931 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ctnnbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R2971:Ctnnbl1
|
UTSW |
2 |
157,713,106 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation