Incidental Mutation 'IGL02163:Cap1'
ID |
282537 |
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 # |
IGL02163
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
122752840-122779849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122756209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 396
(V396I)
|
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 benign
Transcript: ENSMUST00000069533
AA Change: V396I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000068260 Gene: ENSMUSG00000028656 AA Change: V396I
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: ENSMUST00000106255
AA Change: V396I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101862 Gene: ENSMUSG00000028656 AA Change: V396I
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 benign
Transcript: ENSMUST00000106257
AA Change: V396I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101864 Gene: ENSMUSG00000028656 AA Change: V396I
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
T |
C |
15: 37,439,852 (GRCm39) |
|
probably benign |
Het |
Armh4 |
A |
G |
14: 50,011,614 (GRCm39) |
V31A |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Ccdc80 |
T |
C |
16: 44,916,477 (GRCm39) |
V411A |
probably benign |
Het |
Cyp2w1 |
T |
A |
5: 139,341,920 (GRCm39) |
M111K |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,559,315 (GRCm39) |
V687A |
possibly damaging |
Het |
Fam184a |
T |
C |
10: 53,523,230 (GRCm39) |
|
probably null |
Het |
Fhip1a |
A |
G |
3: 85,595,859 (GRCm39) |
F342S |
possibly damaging |
Het |
Foxred1 |
A |
T |
9: 35,117,192 (GRCm39) |
L313H |
probably damaging |
Het |
Gm38392 |
G |
A |
3: 88,152,887 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,733,109 (GRCm39) |
|
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,060,900 (GRCm39) |
M591K |
probably damaging |
Het |
Ncr1 |
A |
T |
7: 4,344,262 (GRCm39) |
S217C |
possibly damaging |
Het |
Or10al7 |
T |
C |
17: 38,365,641 (GRCm39) |
H281R |
probably benign |
Het |
Or1e1 |
T |
A |
11: 73,245,320 (GRCm39) |
V247E |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,679,871 (GRCm39) |
F526L |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,898,223 (GRCm39) |
S955C |
probably benign |
Het |
Prpf19 |
T |
A |
19: 10,879,800 (GRCm39) |
S307R |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,014,119 (GRCm39) |
P456S |
possibly damaging |
Het |
Rgs8 |
C |
A |
1: 153,547,511 (GRCm39) |
T47K |
possibly damaging |
Het |
Samd9l |
T |
A |
6: 3,374,246 (GRCm39) |
N1005I |
possibly damaging |
Het |
Tmc4 |
A |
G |
7: 3,669,824 (GRCm39) |
L20P |
probably damaging |
Het |
Ttc21a |
C |
T |
9: 119,779,901 (GRCm39) |
Q403* |
probably null |
Het |
Zbtb43 |
T |
C |
2: 33,343,795 (GRCm39) |
R477G |
possibly damaging |
Het |
|
Other mutations in Cap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01449:Cap1
|
APN |
4 |
122,753,980 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |