Incidental Mutation 'R5857:Ctnnbl1'
| ID |
454939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctnnbl1
|
| Ensembl Gene |
ENSMUSG00000027649 |
| Gene Name |
catenin, beta like 1 |
| Synonyms |
NYD-SP19, 5730471K09Rik, P14L, FLJ21108 |
| MMRRC Submission |
044069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157579321-157733534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 157631018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 145
(S145P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029178]
|
| AlphaFold |
Q9CWL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029178
AA Change: S145P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: S145P
| 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 |
0.9106 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,342,405 (GRCm39) |
A229V |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,475,442 (GRCm39) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
| Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,333,640 (GRCm39) |
V1066D |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
| Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,496 (GRCm39) |
N199S |
possibly damaging |
Het |
| Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
| Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
| Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 163,886,175 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,128,014 (GRCm39) |
Y946H |
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 |
|
|
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 |
|
|
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'- GTCTGCTGTCGACATTTTGAC -3'
(R):5'- TAAGGCTCAGGCGTTCATGAG -3'
Sequencing Primer
(F):5'- TGTCGACATTTTGACAGATTGTG -3'
(R):5'- CTCAGGCGTTCATGAGTAAAGAGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation