Incidental Mutation 'IGL03208:Ctnnal1'
| ID |
413191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctnnal1
|
| Ensembl Gene |
ENSMUSG00000038816 |
| Gene Name |
catenin alpha like 1 |
| Synonyms |
Catnal1, catenin (cadherin associated protein), alpha-like 1, ACRP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL03208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56813833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 645
(K645N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
[ENSMUST00000045368]
[ENSMUST00000131520]
|
| AlphaFold |
O88327 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045142
AA Change: K645N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: K645N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:Vinculin
|
30 |
309 |
7e-39 |
PFAM |
|
Pfam:Vinculin
|
302 |
526 |
1.7e-12 |
PFAM |
|
Pfam:Vinculin
|
531 |
683 |
5.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045368
|
| SMART Domains |
Protein: ENSMUSP00000047275
Gene: ENSMUSG00000038827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCV_H
|
117 |
185 |
5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134915
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and exhibit no overt phenotypes or defects in hematopoiesis and hematopoietic stem cell function. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(111) : Targeted, other(2) Gene trapped(109)
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
T |
C |
4: 40,186,424 (GRCm39) |
V612A |
possibly damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,337 (GRCm39) |
T195S |
probably damaging |
Het |
| Cluh |
C |
A |
11: 74,560,332 (GRCm39) |
|
probably null |
Het |
| Cntn3 |
T |
C |
6: 102,164,060 (GRCm39) |
Y882C |
probably damaging |
Het |
| Entpd6 |
T |
A |
2: 150,610,838 (GRCm39) |
Y385N |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,431,452 (GRCm39) |
Y484C |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,723,811 (GRCm39) |
A386T |
probably benign |
Het |
| Fam149b |
T |
C |
14: 20,401,370 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
G |
A |
1: 63,778,365 (GRCm39) |
E413K |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,376 (GRCm39) |
L405* |
probably null |
Het |
| Gpr75 |
A |
T |
11: 30,842,699 (GRCm39) |
I535F |
probably damaging |
Het |
| Irf2 |
A |
C |
8: 47,260,340 (GRCm39) |
I53L |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,046 (GRCm39) |
E28G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,853,974 (GRCm39) |
|
probably benign |
Het |
| Or10z1 |
A |
G |
1: 174,077,959 (GRCm39) |
F178S |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,326 (GRCm39) |
V196A |
probably benign |
Het |
| Plekhm1 |
T |
C |
11: 103,267,596 (GRCm39) |
K792E |
probably benign |
Het |
| Ppp1r14c |
A |
T |
10: 3,373,531 (GRCm39) |
D114V |
probably damaging |
Het |
| Rnf20 |
G |
T |
4: 49,645,706 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,628,171 (GRCm39) |
P934S |
possibly damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,383,053 (GRCm39) |
E243G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,396 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,500,716 (GRCm39) |
L147P |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,025 (GRCm39) |
S96R |
possibly damaging |
Het |
|
| Other mutations in Ctnnal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00756:Ctnnal1
|
APN |
4 |
56,829,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01404:Ctnnal1
|
APN |
4 |
56,829,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Ctnnal1
|
APN |
4 |
56,835,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Ctnnal1
|
APN |
4 |
56,835,306 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02618:Ctnnal1
|
APN |
4 |
56,817,060 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03109:Ctnnal1
|
APN |
4 |
56,839,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Ctnnal1
|
APN |
4 |
56,844,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03250:Ctnnal1
|
APN |
4 |
56,812,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
NA:Ctnnal1
|
UTSW |
4 |
56,817,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0217:Ctnnal1
|
UTSW |
4 |
56,813,230 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0391:Ctnnal1
|
UTSW |
4 |
56,847,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Ctnnal1
|
UTSW |
4 |
56,835,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0582:Ctnnal1
|
UTSW |
4 |
56,813,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Ctnnal1
|
UTSW |
4 |
56,847,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1638:Ctnnal1
|
UTSW |
4 |
56,813,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1760:Ctnnal1
|
UTSW |
4 |
56,838,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Ctnnal1
|
UTSW |
4 |
56,812,534 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1954:Ctnnal1
|
UTSW |
4 |
56,817,242 (GRCm39) |
splice site |
probably benign |
|
|
R2050:Ctnnal1
|
UTSW |
4 |
56,835,350 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2104:Ctnnal1
|
UTSW |
4 |
56,812,329 (GRCm39) |
makesense |
probably null |
|
|
R3104:Ctnnal1
|
UTSW |
4 |
56,813,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3106:Ctnnal1
|
UTSW |
4 |
56,813,246 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3918:Ctnnal1
|
UTSW |
4 |
56,865,000 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4705:Ctnnal1
|
UTSW |
4 |
56,812,579 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4757:Ctnnal1
|
UTSW |
4 |
56,847,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Ctnnal1
|
UTSW |
4 |
56,847,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Ctnnal1
|
UTSW |
4 |
56,847,854 (GRCm39) |
nonsense |
probably null |
|
|
R5771:Ctnnal1
|
UTSW |
4 |
56,826,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5974:Ctnnal1
|
UTSW |
4 |
56,817,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Ctnnal1
|
UTSW |
4 |
56,812,349 (GRCm39) |
missense |
probably benign |
|
|
R6129:Ctnnal1
|
UTSW |
4 |
56,829,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6389:Ctnnal1
|
UTSW |
4 |
56,813,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Ctnnal1
|
UTSW |
4 |
56,817,299 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7372:Ctnnal1
|
UTSW |
4 |
56,826,285 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7454:Ctnnal1
|
UTSW |
4 |
56,844,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Ctnnal1
|
UTSW |
4 |
56,837,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Ctnnal1
|
UTSW |
4 |
56,817,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7671:Ctnnal1
|
UTSW |
4 |
56,837,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Ctnnal1
|
UTSW |
4 |
56,847,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Ctnnal1
|
UTSW |
4 |
56,813,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8697:Ctnnal1
|
UTSW |
4 |
56,838,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8809:Ctnnal1
|
UTSW |
4 |
56,835,374 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9649:Ctnnal1
|
UTSW |
4 |
56,865,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9739:Ctnnal1
|
UTSW |
4 |
56,816,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Ctnnal1
|
UTSW |
4 |
56,844,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9791:Ctnnal1
|
UTSW |
4 |
56,844,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation