Incidental Mutation 'R0866:Ckap4'
| ID |
82353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ckap4
|
| Ensembl Gene |
ENSMUSG00000046841 |
| Gene Name |
cytoskeleton-associated protein 4 |
| Synonyms |
P63, CLIMP-63, 5630400A09Rik |
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84362169-84369752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84363384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 560
(D560N)
|
| 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: D560N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: D560N
| 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: D560N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: D560N
| 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 |
noncoding transcript
Transcript: ENSMUST00000215920
|
| Meta Mutation Damage Score |
0.1013 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Acsm5 |
T |
A |
7: 119,140,123 (GRCm39) |
I508N |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,115,098 (GRCm39) |
R78L |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,859,829 (GRCm39) |
L274P |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,713,920 (GRCm39) |
|
probably null |
Het |
| Isy1 |
C |
A |
6: 87,796,094 (GRCm39) |
R281L |
probably benign |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,779,323 (GRCm39) |
K115M |
probably damaging |
Het |
|
| Other mutations in Ckap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02591:Ckap4
|
APN |
10 |
84,364,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGAGACACATCCTTTTCTGCAC -3'
(R):5'- GACAACCTGAAATCCTCAGTGAGCC -3'
Sequencing Primer
(F):5'- GTGTCCAGTCGGTATCTGCTAC -3'
(R):5'- AATCCTCAGTGAGCCAAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation