Incidental Mutation 'R3690:Cap1'
| ID |
269716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap1
|
| Ensembl Gene |
ENSMUSG00000028656 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 1 |
| Synonyms |
|
| MMRRC Submission |
040685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R3690 (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 122758419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 254
(S254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069533]
[ENSMUST00000106255]
[ENSMUST00000106257]
[ENSMUST00000128485]
|
| AlphaFold |
P40124 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069533
AA Change: S254P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: S254P
| 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: S254P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: S254P
| 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: S254P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: S254P
| 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 |
0.6655 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,091,328 (GRCm39) |
Y629F |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,836,668 (GRCm39) |
D1081V |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,368,055 (GRCm39) |
C893R |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,754,252 (GRCm39) |
I98T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,814,957 (GRCm39) |
|
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Ddias |
G |
A |
7: 92,509,366 (GRCm39) |
P183L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
| Dusp16 |
C |
T |
6: 134,738,082 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,821,881 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,227,393 (GRCm39) |
V842A |
probably benign |
Het |
| Folr1 |
T |
C |
7: 101,507,745 (GRCm39) |
S232G |
probably benign |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,137 (GRCm39) |
M75V |
probably benign |
Het |
| Fxyd5 |
G |
T |
7: 30,735,864 (GRCm39) |
L128M |
possibly damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,349,238 (GRCm39) |
S500P |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,275 (GRCm39) |
L268P |
probably damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,243 (GRCm39) |
H192L |
probably benign |
Het |
| Llgl1 |
T |
G |
11: 60,597,828 (GRCm39) |
Y316D |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,801,374 (GRCm39) |
*143R |
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,513 (GRCm39) |
E678G |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,395,382 (GRCm39) |
I996L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,027,397 (GRCm39) |
E6868G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Nup50 |
C |
T |
15: 84,823,994 (GRCm39) |
T449M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,686 (GRCm39) |
P56S |
probably damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,508 (GRCm39) |
F62L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,274 (GRCm39) |
T56A |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,902 (GRCm39) |
L95P |
probably damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,724 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Pald1 |
A |
T |
10: 61,191,587 (GRCm39) |
|
probably null |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,637,817 (GRCm39) |
V312A |
possibly damaging |
Het |
| Scaper |
C |
T |
9: 55,791,205 (GRCm39) |
G231D |
probably benign |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,854 (GRCm39) |
M1V |
probably null |
Het |
| Smtn |
T |
C |
11: 3,477,687 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tex47 |
A |
G |
5: 7,354,777 (GRCm39) |
|
probably benign |
Het |
| Tram2 |
T |
A |
1: 21,075,824 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,926,547 (GRCm39) |
K442E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,798 (GRCm39) |
F8I |
unknown |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,370 (GRCm39) |
F815S |
possibly damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zfp579 |
T |
C |
7: 4,997,719 (GRCm39) |
H64R |
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 |
|
|
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 |
|
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'- ACTTAAGTTTGATGTCCCTTTAGAC -3'
(R):5'- TAGGAGACTTAAATCACCAAGGCC -3'
Sequencing Primer
(F):5'- CTTTAGACACCCCCAAATGAATGTTG -3'
(R):5'- GATGGTCCAGCATTTAAGAGCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation