Incidental Mutation 'R0846:Cap1'
| ID |
77364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap1
|
| Ensembl Gene |
ENSMUSG00000028656 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 1 |
| Synonyms |
|
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
122752840-122779849 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 122756692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030412]
[ENSMUST00000069533]
[ENSMUST00000106255]
[ENSMUST00000106257]
[ENSMUST00000120157]
[ENSMUST00000128485]
|
| 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 null
Transcript: ENSMUST00000069533
|
| SMART Domains |
Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
| 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 null
Transcript: ENSMUST00000106255
|
| SMART Domains |
Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
| 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 null
Transcript: ENSMUST00000106257
|
| SMART Domains |
Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
| 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 |
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
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTAAGCCACCTGCTTCAGCTC -3'
(R):5'- TGGTGTGTTCTTACAGCCCTGAAAC -3'
Sequencing Primer
(F):5'- TCAGTGTCATCGATCACCAGG -3'
(R):5'- GCCCTGAAACATGTATCTGATGAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation