Incidental Mutation 'IGL02591:Ckap4'
| ID |
299748 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ckap4
|
| Ensembl Gene |
ENSMUSG00000046841 |
| Gene Name |
cytoskeleton-associated protein 4 |
| Synonyms |
P63, CLIMP-63, 5630400A09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
IGL02591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84362169-84369752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84364454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 203
(D203G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053871]
[ENSMUST00000167671]
|
| AlphaFold |
Q8BMK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053871
AA Change: D203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: D203G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
191 |
233 |
1.28e-5 |
PROSPERO |
|
internal_repeat_1
|
269 |
311 |
1.28e-5 |
PROSPERO |
|
coiled coil region
|
338 |
362 |
N/A |
INTRINSIC |
|
coiled coil region
|
408 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167671
AA Change: D203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: D203G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
82 |
N/A |
INTRINSIC |
|
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
191 |
233 |
1.28e-5 |
PROSPERO |
|
internal_repeat_1
|
269 |
311 |
1.28e-5 |
PROSPERO |
|
coiled coil region
|
338 |
362 |
N/A |
INTRINSIC |
|
coiled coil region
|
408 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
575 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,485,249 (GRCm39) |
F448I |
probably benign |
Het |
| Afg3l1 |
T |
C |
8: 124,212,748 (GRCm39) |
F170L |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,398,158 (GRCm39) |
R1300* |
probably null |
Het |
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,249 (GRCm39) |
N433D |
probably damaging |
Het |
| Eapp |
T |
C |
12: 54,739,607 (GRCm39) |
N70S |
probably damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,853 (GRCm39) |
D378V |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,638 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,082,031 (GRCm39) |
I558F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,786 (GRCm39) |
M234K |
possibly damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,490,344 (GRCm39) |
Q81R |
probably damaging |
Het |
| Gpm6a |
C |
T |
8: 55,511,954 (GRCm39) |
A276V |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,531,821 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
G |
T |
10: 90,932,154 (GRCm39) |
C266F |
probably damaging |
Het |
| Lpar2 |
C |
T |
8: 70,276,700 (GRCm39) |
A163V |
probably benign |
Het |
| Med17 |
T |
A |
9: 15,181,657 (GRCm39) |
H31L |
probably damaging |
Het |
| Or5g25 |
C |
A |
2: 85,478,487 (GRCm39) |
M59I |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,755,053 (GRCm39) |
F992L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,900,287 (GRCm39) |
H864R |
probably damaging |
Het |
| Samd9l |
A |
C |
6: 3,375,760 (GRCm39) |
C500W |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,178 (GRCm39) |
Y501N |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,957,702 (GRCm39) |
H277L |
probably damaging |
Het |
| Slc39a8 |
T |
G |
3: 135,590,381 (GRCm39) |
L358R |
probably damaging |
Het |
| Spi1 |
T |
A |
2: 90,927,295 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
A |
G |
8: 22,748,743 (GRCm39) |
E477G |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,084,059 (GRCm39) |
V173M |
probably damaging |
Het |
| Tmco2 |
C |
T |
4: 120,962,987 (GRCm39) |
D171N |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,065,563 (GRCm39) |
L492P |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,153 (GRCm39) |
I333K |
probably damaging |
Het |
| Zfp598 |
C |
A |
17: 24,896,478 (GRCm39) |
P185Q |
probably damaging |
Het |
| Zfp711 |
T |
A |
X: 111,542,391 (GRCm39) |
M474K |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,509,206 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ckap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03251:Ckap4
|
APN |
10 |
84,364,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Ckap4
|
UTSW |
10 |
84,363,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0866:Ckap4
|
UTSW |
10 |
84,363,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Ckap4
|
UTSW |
10 |
84,363,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Ckap4
|
UTSW |
10 |
84,363,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Ckap4
|
UTSW |
10 |
84,363,738 (GRCm39) |
missense |
probably benign |
|
|
R2113:Ckap4
|
UTSW |
10 |
84,369,387 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3723:Ckap4
|
UTSW |
10 |
84,364,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Ckap4
|
UTSW |
10 |
84,364,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4735:Ckap4
|
UTSW |
10 |
84,369,384 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4746:Ckap4
|
UTSW |
10 |
84,369,384 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4857:Ckap4
|
UTSW |
10 |
84,369,352 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5308:Ckap4
|
UTSW |
10 |
84,364,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5333:Ckap4
|
UTSW |
10 |
84,363,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Ckap4
|
UTSW |
10 |
84,369,354 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7383:Ckap4
|
UTSW |
10 |
84,364,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Ckap4
|
UTSW |
10 |
84,363,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7453:Ckap4
|
UTSW |
10 |
84,364,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Ckap4
|
UTSW |
10 |
84,364,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7966:Ckap4
|
UTSW |
10 |
84,363,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Ckap4
|
UTSW |
10 |
84,369,499 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8337:Ckap4
|
UTSW |
10 |
84,364,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Ckap4
|
UTSW |
10 |
84,364,290 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9099:Ckap4
|
UTSW |
10 |
84,369,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9115:Ckap4
|
UTSW |
10 |
84,363,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Ckap4
|
UTSW |
10 |
84,363,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Ckap4
|
UTSW |
10 |
84,363,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Ckap4
|
UTSW |
10 |
84,363,924 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9592:Ckap4
|
UTSW |
10 |
84,364,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation