Incidental Mutation 'IGL01115:Capza2'
| ID |
51337 |
| 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 # |
IGL01115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
17637009-17666971 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17654122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 58
(N58S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015877]
[ENSMUST00000130606]
[ENSMUST00000152005]
|
| AlphaFold |
P47754 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015877
AA Change: N58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733
AA Change: N58S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
14 |
282 |
3.2e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130606
AA Change: N58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123398
Gene: ENSMUSG00000015733
AA Change: N58S
| 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 damaging
Transcript: ENSMUST00000152005
AA Change: N58S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733
AA Change: N58S
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
| Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
| Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
| Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
| Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
| Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
| Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
| Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Capza2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Capza2
|
APN |
6 |
17,654,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02692:Capza2
|
APN |
6 |
17,654,115 (GRCm39) |
nonsense |
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 |
2013-06-21 |
Incidental Mutation