Incidental Mutation 'IGL03164:Ctnnbl1'
| ID |
411545 |
| 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 # |
IGL03164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
157579321-157733534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 157659681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 253
(M253L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029178]
|
| AlphaFold |
Q9CWL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029178
AA Change: M253L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: M253L
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
| Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
| Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
| Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
| Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
| Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
| Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
| Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
| Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
| Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
| Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
| Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
| Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
| Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
| Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
| Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
| Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
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 |
|
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 |
2016-08-02 |
Incidental Mutation