Incidental Mutation 'R3958:Ckap4'
ID |
310813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ckap4
|
Ensembl Gene |
ENSMUSG00000046841 |
Gene Name |
cytoskeleton-associated protein 4 |
Synonyms |
P63, CLIMP-63, 5630400A09Rik |
MMRRC Submission |
040834-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.244)
|
Stock # |
R3958 (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 84364028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 345
(R345H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053871]
[ENSMUST00000167671]
|
AlphaFold |
Q8BMK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053871
AA Change: R345H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000050336 Gene: ENSMUSG00000046841 AA Change: R345H
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 benign
Transcript: ENSMUST00000167671
AA Change: R345H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000130304 Gene: ENSMUSG00000046841 AA Change: R345H
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 |
0.0717 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
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 |
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 |
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'- ATTGAGTAGACCCCGTCCTC -3'
(R):5'- AAAACTCTGAAGGACGCCG -3'
Sequencing Primer
(F):5'- TCTACATACTGGAGCCTGGCAC -3'
(R):5'- AGGCCTCCATGATGTCGAG -3'
|
Posted On |
2015-04-29 |