Incidental Mutation 'IGL01523:Ctnnal1'
| ID |
89469 |
| 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: 0.196)
|
| Stock # |
IGL01523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
56810935-56865188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56835243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 345
(I345V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045142]
|
| AlphaFold |
O88327 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045142
AA Change: I345V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: I345V
| 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 |
noncoding transcript
Transcript: ENSMUST00000127908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154511
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,320 (GRCm39) |
E246G |
probably damaging |
Het |
| B3galt5 |
T |
A |
16: 96,117,091 (GRCm39) |
D241E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,507 (GRCm39) |
F442L |
possibly damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,359,504 (GRCm39) |
E709V |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,124,270 (GRCm39) |
N183S |
probably damaging |
Het |
| Fam90a1b |
T |
C |
X: 93,400,365 (GRCm39) |
D155G |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,807,863 (GRCm39) |
S1394N |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,339 (GRCm39) |
Q166L |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,007,763 (GRCm39) |
D99G |
probably null |
Het |
| Grin2b |
A |
T |
6: 136,021,263 (GRCm39) |
W13R |
probably null |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,024 (GRCm39) |
V127M |
probably benign |
Het |
| Hc |
C |
T |
2: 34,929,250 (GRCm39) |
M282I |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,461,876 (GRCm39) |
E57G |
probably damaging |
Het |
| Inpp5j |
C |
T |
11: 3,445,932 (GRCm39) |
|
probably null |
Het |
| Krt84 |
A |
T |
15: 101,437,179 (GRCm39) |
V328E |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,053,977 (GRCm39) |
E247* |
probably null |
Het |
| Mmrn2 |
T |
A |
14: 34,125,174 (GRCm39) |
F918L |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,238,769 (GRCm39) |
E704G |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,420,908 (GRCm39) |
N249K |
probably damaging |
Het |
| Nobox |
C |
A |
6: 43,281,057 (GRCm39) |
K472N |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,415 (GRCm39) |
T230S |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,807,236 (GRCm39) |
S232T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,580,903 (GRCm39) |
Y159N |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,700,012 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,272,999 (GRCm39) |
Q210R |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,123,954 (GRCm39) |
R905Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,785,327 (GRCm39) |
S683P |
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 |
|
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 |
|
IGL03208:Ctnnal1
|
APN |
4 |
56,813,833 (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 |
2013-12-03 |
Incidental Mutation