Incidental Mutation 'R1311:Cap1'
ID |
157926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cap1
|
Ensembl Gene |
ENSMUSG00000028656 |
Gene Name |
cyclase associated actin cytoskeleton regulatory protein 1 |
Synonyms |
|
MMRRC Submission |
039377-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.917)
|
Stock # |
R1311 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
122752840-122779849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122759007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 195
(Y195H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069533]
[ENSMUST00000106255]
[ENSMUST00000106257]
[ENSMUST00000128485]
|
AlphaFold |
P40124 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069533
AA Change: Y195H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000068260 Gene: ENSMUSG00000028656 AA Change: Y195H
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 |
possibly damaging
Transcript: ENSMUST00000106255
AA Change: Y195H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101862 Gene: ENSMUSG00000028656 AA Change: Y195H
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 |
possibly damaging
Transcript: ENSMUST00000106257
AA Change: Y195H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101864 Gene: ENSMUSG00000028656 AA Change: Y195H
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: ENSMUST00000128485
|
SMART Domains |
Protein: ENSMUSP00000114847 Gene: ENSMUSG00000028656
Domain | Start | End | E-Value | Type |
Pfam:CAP_N
|
4 |
164 |
2.3e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150919
|
Meta Mutation Damage Score |
0.8732 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
Validation Efficiency |
98% (42/43) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
probably 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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCCAGATGGCAATCCACTCAGTTC -3'
(R):5'- TTTGATGCTAGGGAAGCTGCCAC -3'
Sequencing Primer
(F):5'- ggacagaagagagtgttggag -3'
(R):5'- AGCTGCCACTGAGCAGAG -3'
|
Posted On |
2014-02-18 |