Incidental Mutation 'IGL01519:Ckap2'
| ID |
89399 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ckap2
|
| Ensembl Gene |
ENSMUSG00000037725 |
| Gene Name |
cytoskeleton associated protein 2 |
| Synonyms |
LB1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL01519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
22658176-22675835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22658914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 610
(R610C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033865]
[ENSMUST00000046916]
[ENSMUST00000110730]
|
| AlphaFold |
Q3V1H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033865
|
| SMART Domains |
Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
259 |
1.11e-89 |
SMART |
|
Blast:S_TKc
|
267 |
444 |
8e-49 |
BLAST |
|
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046916
AA Change: R610C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: R610C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
Pfam:CKAP2_C
|
315 |
651 |
3.9e-168 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110730
|
| SMART Domains |
Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
259 |
1.11e-89 |
SMART |
|
Blast:S_TKc
|
267 |
446 |
1e-48 |
BLAST |
|
low complexity region
|
473 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211629
|
| 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 cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap17b |
T |
C |
X: 35,875,503 (GRCm39) |
D668G |
probably damaging |
Het |
| Btbd3 |
A |
G |
2: 138,121,697 (GRCm39) |
M127V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,518,575 (GRCm39) |
T462A |
possibly damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Chd1 |
G |
A |
17: 17,598,831 (GRCm39) |
G98R |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,895,157 (GRCm39) |
R1168H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,460,246 (GRCm39) |
T3515I |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,319,385 (GRCm39) |
Q54R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,227,006 (GRCm39) |
I86V |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,945 (GRCm39) |
I179N |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,158,939 (GRCm39) |
M2275I |
probably benign |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,646 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,092,696 (GRCm39) |
I22L |
unknown |
Het |
| Golga4 |
A |
G |
9: 118,356,160 (GRCm39) |
E104G |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,753,698 (GRCm39) |
R699H |
probably damaging |
Het |
| Hrh1 |
A |
C |
6: 114,457,262 (GRCm39) |
E181A |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,699 (GRCm39) |
F50S |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,398 (GRCm39) |
I46N |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,123,071 (GRCm39) |
D35G |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,477,348 (GRCm39) |
V347I |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,144,331 (GRCm39) |
R161G |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,188,471 (GRCm39) |
|
probably benign |
Het |
| Taf1 |
T |
A |
X: 100,606,412 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,313,634 (GRCm39) |
Y351C |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,544,384 (GRCm39) |
D2133E |
probably damaging |
Het |
| Thap7 |
A |
C |
16: 17,346,609 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
A |
1: 150,306,919 (GRCm39) |
S1505T |
probably benign |
Het |
| Trav9-2 |
C |
T |
14: 53,828,809 (GRCm39) |
R60W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ckap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Ckap2
|
APN |
8 |
22,659,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0530:Ckap2
|
UTSW |
8 |
22,665,988 (GRCm39) |
splice site |
probably benign |
|
|
R1638:Ckap2
|
UTSW |
8 |
22,665,812 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1965:Ckap2
|
UTSW |
8 |
22,665,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2047:Ckap2
|
UTSW |
8 |
22,658,763 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3023:Ckap2
|
UTSW |
8 |
22,665,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3843:Ckap2
|
UTSW |
8 |
22,665,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4587:Ckap2
|
UTSW |
8 |
22,666,992 (GRCm39) |
missense |
probably benign |
|
|
R4754:Ckap2
|
UTSW |
8 |
22,658,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4847:Ckap2
|
UTSW |
8 |
22,665,084 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5354:Ckap2
|
UTSW |
8 |
22,667,581 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5423:Ckap2
|
UTSW |
8 |
22,667,212 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5717:Ckap2
|
UTSW |
8 |
22,665,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6518:Ckap2
|
UTSW |
8 |
22,663,319 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7088:Ckap2
|
UTSW |
8 |
22,659,882 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7466:Ckap2
|
UTSW |
8 |
22,667,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7943:Ckap2
|
UTSW |
8 |
22,665,090 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8558:Ckap2
|
UTSW |
8 |
22,658,811 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9224:Ckap2
|
UTSW |
8 |
22,659,954 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9366:Ckap2
|
UTSW |
8 |
22,658,988 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9454:Ckap2
|
UTSW |
8 |
22,665,899 (GRCm39) |
nonsense |
probably null |
|
|
X0058:Ckap2
|
UTSW |
8 |
22,666,814 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ckap2
|
UTSW |
8 |
22,659,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation