Incidental Mutation 'IGL01289:Cables1'
ID |
72858 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cables1
|
Ensembl Gene |
ENSMUSG00000040957 |
Gene Name |
CDK5 and Abl enzyme substrate 1 |
Synonyms |
ik3-1, interactor-1 with cdk3 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
IGL01289
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
11972600-12078681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12077621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 583
(V583A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046948]
[ENSMUST00000171109]
|
AlphaFold |
Q9ESJ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046948
AA Change: V557A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040639 Gene: ENSMUSG00000040957 AA Change: V557A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
low complexity region
|
81 |
88 |
N/A |
INTRINSIC |
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
low complexity region
|
108 |
138 |
N/A |
INTRINSIC |
low complexity region
|
184 |
201 |
N/A |
INTRINSIC |
low complexity region
|
238 |
253 |
N/A |
INTRINSIC |
CYCLIN
|
456 |
544 |
1.83e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171109
AA Change: V583A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129463 Gene: ENSMUSG00000040957 AA Change: V583A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
low complexity region
|
81 |
88 |
N/A |
INTRINSIC |
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
low complexity region
|
108 |
138 |
N/A |
INTRINSIC |
low complexity region
|
184 |
201 |
N/A |
INTRINSIC |
low complexity region
|
238 |
253 |
N/A |
INTRINSIC |
CYCLIN
|
482 |
570 |
1.83e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225430
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Homozygous null females exhibited reduced fertility and uterine hyperplasia. With chronic exposure to estrogen, homozygous females develop endometrial adenocarcinoma. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
Other mutations in Cables1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01373:Cables1
|
APN |
18 |
12,021,821 (GRCm39) |
missense |
probably damaging |
0.98 |
R0058:Cables1
|
UTSW |
18 |
12,056,470 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0058:Cables1
|
UTSW |
18 |
12,056,470 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2886:Cables1
|
UTSW |
18 |
12,072,789 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4691:Cables1
|
UTSW |
18 |
11,973,580 (GRCm39) |
nonsense |
probably null |
|
R4845:Cables1
|
UTSW |
18 |
12,077,545 (GRCm39) |
missense |
probably damaging |
0.99 |
R4964:Cables1
|
UTSW |
18 |
12,074,334 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5286:Cables1
|
UTSW |
18 |
12,057,884 (GRCm39) |
missense |
probably benign |
0.11 |
R5756:Cables1
|
UTSW |
18 |
12,074,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R6755:Cables1
|
UTSW |
18 |
12,072,882 (GRCm39) |
missense |
probably null |
1.00 |
R7162:Cables1
|
UTSW |
18 |
12,059,423 (GRCm39) |
critical splice donor site |
probably null |
|
R7242:Cables1
|
UTSW |
18 |
11,973,064 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7410:Cables1
|
UTSW |
18 |
12,074,282 (GRCm39) |
missense |
probably benign |
|
R7411:Cables1
|
UTSW |
18 |
11,973,572 (GRCm39) |
missense |
probably benign |
0.01 |
R7965:Cables1
|
UTSW |
18 |
11,973,269 (GRCm39) |
missense |
probably benign |
0.06 |
R8765:Cables1
|
UTSW |
18 |
12,056,422 (GRCm39) |
missense |
probably benign |
0.01 |
R9167:Cables1
|
UTSW |
18 |
12,039,029 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Cables1
|
UTSW |
18 |
12,074,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |