Incidental Mutation 'R3691:Cap1'
| ID |
268773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap1
|
| Ensembl Gene |
ENSMUSG00000028656 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 1 |
| Synonyms |
|
| MMRRC Submission |
040686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R3691 (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 |
100% (34/34) |
| 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 |
|---|
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,737,883 (GRCm39) |
F171L |
probably benign |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
G |
A |
19: 47,885,512 (GRCm39) |
L368F |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Drosha |
G |
A |
15: 12,834,724 (GRCm39) |
R276H |
unknown |
Het |
| Efr3b |
T |
A |
12: 4,032,059 (GRCm39) |
D183V |
possibly damaging |
Het |
| Epha1 |
T |
C |
6: 42,338,064 (GRCm39) |
T794A |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,887 (GRCm39) |
V281I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,583 (GRCm39) |
Y571C |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,982,186 (GRCm39) |
P6L |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,929,371 (GRCm39) |
T3925I |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,011,149 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
T |
G |
11: 121,796,751 (GRCm39) |
Q366P |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,943,068 (GRCm38) |
I161T |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,134 (GRCm39) |
|
probably benign |
Het |
| Lrrc69 |
A |
T |
4: 14,795,980 (GRCm39) |
N22K |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,859,562 (GRCm39) |
R250G |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mxi1 |
T |
C |
19: 53,358,062 (GRCm39) |
L73P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,514 (GRCm39) |
F39L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,076,999 (GRCm39) |
M111V |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,620,493 (GRCm39) |
D771G |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,668 (GRCm39) |
D27G |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,146,797 (GRCm39) |
F523S |
probably benign |
Het |
| Zan |
A |
G |
5: 137,418,281 (GRCm39) |
I2939T |
unknown |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,595 (GRCm39) |
T1522A |
probably benign |
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 |
|
R3690: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'- AGGAGACTTAAATCACCAAGGC -3'
Sequencing Primer
(F):5'- CTTTAGACACCCCCAAATGAATGTTG -3'
(R):5'- GATGGTCCAGCATTTAAGAGCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation