Incidental Mutation 'R0862:Ctnnbl1'
| ID |
82142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctnnbl1
|
| Ensembl Gene |
ENSMUSG00000027649 |
| Gene Name |
catenin, beta like 1 |
| Synonyms |
NYD-SP19, 5730471K09Rik, P14L, FLJ21108 |
| MMRRC Submission |
039036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R0862 (G1)
|
| Quality Score |
154 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157579321-157733534 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 157641337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029178]
|
| AlphaFold |
Q9CWL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029178
|
| SMART Domains |
Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1716
|
52 |
162 |
3.97e-61 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156300
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 94.9%
- 20x: 87.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 9230009I02Rik |
T |
C |
11: 50,982,144 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts13 |
G |
A |
2: 26,896,336 (GRCm39) |
|
probably null |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,432,792 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mgst1 |
C |
T |
6: 138,124,749 (GRCm39) |
T21M |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Mthfd2 |
A |
G |
6: 83,290,376 (GRCm39) |
V85A |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,735 (GRCm39) |
T241A |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,002 (GRCm39) |
Y196C |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,478 (GRCm39) |
V40A |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Rbm48 |
A |
G |
5: 3,640,438 (GRCm39) |
S314P |
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,027,463 (GRCm39) |
H503R |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,009 (GRCm39) |
Q745* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,275,015 (GRCm39) |
Y1829* |
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,853 (GRCm39) |
E451D |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCTAGAAATGCAGCGTCCCC -3'
(R):5'- CCAAGAGCACTTGGTTAGTAGGCAC -3'
Sequencing Primer
(F):5'- GCGTCCCCAGATTTAAAGCTTG -3'
(R):5'- AGCATTCTACGGATGCCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation