Incidental Mutation 'IGL02692:Capza2'
| ID |
303805 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capza2
|
| Ensembl Gene |
ENSMUSG00000015733 |
| Gene Name |
capping actin protein of muscle Z-line subunit alpha 2 |
| Synonyms |
1110053K06Rik, Cappa2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.387)
|
| Stock # |
IGL02692
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
17637009-17666971 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 17654115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 56
(Q56*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015877]
[ENSMUST00000130606]
[ENSMUST00000152005]
|
| AlphaFold |
P47754 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015877
AA Change: Q56*
|
| SMART Domains |
Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733
AA Change: Q56*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
14 |
282 |
3.2e-109 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130606
AA Change: Q56*
|
| SMART Domains |
Protein: ENSMUSP00000123398
Gene: ENSMUSG00000015733
AA Change: Q56*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
12 |
173 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148694
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152005
AA Change: Q56*
|
| SMART Domains |
Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733
AA Change: Q56*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
14 |
145 |
2.1e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156701
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
C |
10: 100,439,410 (GRCm39) |
S72R |
probably benign |
Het |
| 4930544G11Rik |
T |
C |
6: 65,929,792 (GRCm39) |
V9A |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,806,507 (GRCm39) |
N277D |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,311,536 (GRCm39) |
I57F |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,614,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,089 (GRCm39) |
I64V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,021,871 (GRCm39) |
V651A |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,482 (GRCm39) |
N163D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,187,272 (GRCm39) |
R708C |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,794,738 (GRCm39) |
H824Q |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,875,623 (GRCm39) |
P1106S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,005,235 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Grk2 |
A |
T |
19: 4,340,716 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,155 (GRCm39) |
V13I |
possibly damaging |
Het |
| Loxhd1 |
G |
T |
18: 77,444,609 (GRCm39) |
C336F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,330,596 (GRCm39) |
F355L |
probably null |
Het |
| Mov10 |
C |
A |
3: 104,708,119 (GRCm39) |
E503* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,640,642 (GRCm39) |
|
probably null |
Het |
| Or2w3b |
A |
G |
11: 58,623,343 (GRCm39) |
V216A |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,140,498 (GRCm39) |
M724K |
probably damaging |
Het |
| Pla2g2e |
G |
T |
4: 138,609,870 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,989 (GRCm39) |
V772E |
probably damaging |
Het |
| Rhoh |
A |
G |
5: 66,050,143 (GRCm39) |
R138G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Septin7 |
A |
G |
9: 25,207,786 (GRCm39) |
|
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,974,665 (GRCm39) |
F163V |
probably damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,205,861 (GRCm39) |
F442Y |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,551,049 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,139,100 (GRCm39) |
F236S |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,817,197 (GRCm39) |
K130E |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,022,855 (GRCm39) |
E156G |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,825 (GRCm39) |
V325I |
unknown |
Het |
|
| Other mutations in Capza2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Capza2
|
APN |
6 |
17,654,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Capza2
|
APN |
6 |
17,654,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0086:Capza2
|
UTSW |
6 |
17,660,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Capza2
|
UTSW |
6 |
17,648,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0331:Capza2
|
UTSW |
6 |
17,665,102 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1466:Capza2
|
UTSW |
6 |
17,657,158 (GRCm39) |
intron |
probably benign |
|
|
R2036:Capza2
|
UTSW |
6 |
17,660,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4395:Capza2
|
UTSW |
6 |
17,656,449 (GRCm39) |
splice site |
probably null |
|
|
R4978:Capza2
|
UTSW |
6 |
17,662,114 (GRCm39) |
missense |
probably null |
0.69 |
|
R5653:Capza2
|
UTSW |
6 |
17,654,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Capza2
|
UTSW |
6 |
17,660,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Capza2
|
UTSW |
6 |
17,654,120 (GRCm39) |
nonsense |
probably null |
|
|
R8175:Capza2
|
UTSW |
6 |
17,665,381 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8271:Capza2
|
UTSW |
6 |
17,657,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8306:Capza2
|
UTSW |
6 |
17,637,131 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation