Incidental Mutation 'IGL01449:Cap1'
ID |
84571 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cap1
|
Ensembl Gene |
ENSMUSG00000028656 |
Gene Name |
cyclase associated actin cytoskeleton regulatory protein 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.917)
|
Stock # |
IGL01449
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
122752840-122779849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122753980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 458
(T458A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030412]
[ENSMUST00000069533]
[ENSMUST00000106255]
[ENSMUST00000106257]
[ENSMUST00000120157]
|
AlphaFold |
P40124 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030412
|
SMART Domains |
Protein: ENSMUSP00000030412 Gene: ENSMUSG00000028657
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Palm_thioest
|
28 |
306 |
3.6e-208 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069533
AA Change: T458A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000068260 Gene: ENSMUSG00000028656 AA Change: T458A
Domain | Start | End | E-Value | Type |
Pfam:CAP_N
|
4 |
304 |
1e-129 |
PFAM |
CARP
|
355 |
392 |
2.09e-9 |
SMART |
CARP
|
393 |
430 |
1.18e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106255
AA Change: T458A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101862 Gene: ENSMUSG00000028656 AA Change: T458A
Domain | Start | End | E-Value | Type |
Pfam:CAP_N
|
5 |
294 |
4.2e-116 |
PFAM |
CARP
|
355 |
392 |
2.09e-9 |
SMART |
CARP
|
393 |
430 |
1.18e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106257
AA Change: T458A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101864 Gene: ENSMUSG00000028656 AA Change: T458A
Domain | Start | End | E-Value | Type |
Pfam:CAP_N
|
4 |
304 |
1e-129 |
PFAM |
CARP
|
355 |
392 |
2.09e-9 |
SMART |
CARP
|
393 |
430 |
1.18e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120157
|
SMART Domains |
Protein: ENSMUSP00000113258 Gene: ENSMUSG00000028657
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150919
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The product of this gene plays a role in regulating actin dynamics by binding actin monomers and promoting the turnover of actin filaments. Reduced expression of this gene causes a reduction in actin filament turnover rates, causing multiple defects, including an increase in cell size, stress-fiber alterations, and defects in endocytosis and cell motility. A pseudogene of this gene is found on chromosome 14. Alternative splicing results in multiple transcript variants, but does not affect the protein. [provided by RefSeq, Jul 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,198,693 (GRCm39) |
L33F |
probably benign |
Het |
Actr8 |
T |
C |
14: 29,712,927 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
C |
A |
7: 44,791,391 (GRCm39) |
A105S |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,760,641 (GRCm39) |
T154A |
probably benign |
Het |
BC051665 |
A |
G |
13: 60,930,518 (GRCm39) |
V278A |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,632,978 (GRCm39) |
D408G |
probably benign |
Het |
Fam217b |
T |
A |
2: 178,062,943 (GRCm39) |
S302R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,926,315 (GRCm39) |
D89E |
probably benign |
Het |
Fnip1 |
C |
T |
11: 54,390,334 (GRCm39) |
R434C |
probably damaging |
Het |
Gga3 |
G |
A |
11: 115,479,928 (GRCm39) |
T261M |
probably damaging |
Het |
Gm21985 |
T |
C |
2: 112,169,741 (GRCm39) |
F292L |
probably damaging |
Het |
Gm43638 |
A |
T |
5: 87,634,074 (GRCm39) |
S178T |
possibly damaging |
Het |
Igkv10-95 |
G |
A |
6: 68,657,748 (GRCm39) |
G68E |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,469,857 (GRCm39) |
V1442D |
probably damaging |
Het |
Lpcat2 |
G |
A |
8: 93,597,775 (GRCm39) |
R180Q |
possibly damaging |
Het |
Muc6 |
C |
T |
7: 141,218,527 (GRCm39) |
A1984T |
possibly damaging |
Het |
Npy4r |
T |
A |
14: 33,868,322 (GRCm39) |
Y322F |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,962,937 (GRCm39) |
H840Q |
probably damaging |
Het |
Or7g26 |
G |
A |
9: 19,230,529 (GRCm39) |
G233D |
probably damaging |
Het |
Osbpl2 |
G |
T |
2: 179,786,987 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
A |
5: 14,728,530 (GRCm39) |
|
probably benign |
Het |
Pold4 |
T |
C |
19: 4,282,921 (GRCm39) |
|
probably benign |
Het |
Ppp1r16a |
A |
G |
15: 76,578,494 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
Prkcg |
A |
G |
7: 3,368,135 (GRCm39) |
D343G |
probably benign |
Het |
Scaf11 |
A |
C |
15: 96,317,007 (GRCm39) |
S852R |
probably benign |
Het |
Slc31a2 |
C |
T |
4: 62,210,933 (GRCm39) |
T22I |
probably damaging |
Het |
Sox30 |
T |
A |
11: 45,872,169 (GRCm39) |
D341E |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,442,704 (GRCm39) |
S339P |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,558,673 (GRCm39) |
Y78N |
probably damaging |
Het |
Ttc1 |
T |
A |
11: 43,629,630 (GRCm39) |
S179C |
probably damaging |
Het |
Txnrd3 |
T |
A |
6: 89,631,129 (GRCm39) |
S142T |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,140,047 (GRCm39) |
A1210E |
probably damaging |
Het |
Uroc1 |
C |
A |
6: 90,315,635 (GRCm39) |
P172Q |
probably damaging |
Het |
Usp12 |
T |
C |
5: 146,691,250 (GRCm39) |
D168G |
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,529,916 (GRCm39) |
M287L |
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,420,428 (GRCm39) |
Q1710* |
probably null |
Het |
Wdfy4 |
T |
A |
14: 32,825,994 (GRCm39) |
Q1219L |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,190,616 (GRCm39) |
T145A |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,334,846 (GRCm39) |
C204R |
probably damaging |
Het |
|
Other mutations in Cap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02163:Cap1
|
APN |
4 |
122,756,209 (GRCm39) |
missense |
probably benign |
0.00 |
Twotones
|
UTSW |
4 |
122,761,445 (GRCm39) |
critical splice donor site |
probably null |
|
wingtips
|
UTSW |
4 |
122,761,516 (GRCm39) |
missense |
probably damaging |
0.97 |
R0115:Cap1
|
UTSW |
4 |
122,756,868 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0119:Cap1
|
UTSW |
4 |
122,761,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Cap1
|
UTSW |
4 |
122,756,868 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0534:Cap1
|
UTSW |
4 |
122,756,512 (GRCm39) |
missense |
probably benign |
0.07 |
R0602:Cap1
|
UTSW |
4 |
122,766,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0846:Cap1
|
UTSW |
4 |
122,756,692 (GRCm39) |
critical splice donor site |
probably null |
|
R1311:Cap1
|
UTSW |
4 |
122,759,007 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2027:Cap1
|
UTSW |
4 |
122,756,686 (GRCm39) |
unclassified |
probably benign |
|
R2446:Cap1
|
UTSW |
4 |
122,758,401 (GRCm39) |
missense |
probably benign |
0.22 |
R2860:Cap1
|
UTSW |
4 |
122,758,518 (GRCm39) |
missense |
probably benign |
0.01 |
R2861:Cap1
|
UTSW |
4 |
122,758,518 (GRCm39) |
missense |
probably benign |
0.01 |
R2862:Cap1
|
UTSW |
4 |
122,758,518 (GRCm39) |
missense |
probably benign |
0.01 |
R3690:Cap1
|
UTSW |
4 |
122,758,419 (GRCm39) |
missense |
probably damaging |
0.98 |
R3691:Cap1
|
UTSW |
4 |
122,758,419 (GRCm39) |
missense |
probably damaging |
0.98 |
R4089:Cap1
|
UTSW |
4 |
122,756,202 (GRCm39) |
missense |
probably benign |
0.05 |
R4362:Cap1
|
UTSW |
4 |
122,756,780 (GRCm39) |
missense |
probably benign |
0.00 |
R5511:Cap1
|
UTSW |
4 |
122,756,583 (GRCm39) |
unclassified |
probably benign |
|
R6252:Cap1
|
UTSW |
4 |
122,766,193 (GRCm39) |
missense |
probably benign |
0.37 |
R7001:Cap1
|
UTSW |
4 |
122,758,408 (GRCm39) |
missense |
probably benign |
0.12 |
R7709:Cap1
|
UTSW |
4 |
122,756,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R8913:Cap1
|
UTSW |
4 |
122,761,445 (GRCm39) |
critical splice donor site |
probably null |
|
R9121:Cap1
|
UTSW |
4 |
122,761,516 (GRCm39) |
missense |
probably damaging |
0.97 |
R9281:Cap1
|
UTSW |
4 |
122,766,226 (GRCm39) |
missense |
probably benign |
0.02 |
R9563:Cap1
|
UTSW |
4 |
122,758,505 (GRCm39) |
missense |
probably benign |
|
R9565:Cap1
|
UTSW |
4 |
122,758,505 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-11-11 |