Incidental Mutation 'R5596:Capzb'
| ID |
437822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capzb
|
| Ensembl Gene |
ENSMUSG00000028745 |
| Gene Name |
capping actin protein of muscle Z-line subunit beta |
| Synonyms |
CPB2, Cappb1, CPbeta1, CPB1, CPbeta2, 1700120C01Rik |
| MMRRC Submission |
043148-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
138920210-139019129 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 139006738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030518]
[ENSMUST00000042675]
[ENSMUST00000102507]
[ENSMUST00000102508]
[ENSMUST00000131912]
[ENSMUST00000138045]
|
| AlphaFold |
P47757 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030518
|
| SMART Domains |
Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F_actin_cap_B
|
35 |
269 |
6.2e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042675
|
| SMART Domains |
Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F_actin_cap_B
|
1 |
228 |
4.7e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102507
|
| SMART Domains |
Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F_actin_cap_B
|
6 |
240 |
4.6e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102508
|
| SMART Domains |
Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F_actin_cap_B
|
5 |
240 |
6.8e-115 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131912
AA Change: L151W
|
| SMART Domains |
Protein: ENSMUSP00000114973
Gene: ENSMUSG00000028745
AA Change: L151W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F_actin_cap_B
|
5 |
113 |
1.5e-53 |
PFAM |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
Pfam:F_actin_cap_B
|
143 |
188 |
4.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138045
|
| SMART Domains |
Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F_actin_cap_B
|
1 |
204 |
9.8e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150077
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This gene encodes the beta subunit of a highly conserved filamentous actin capping protein that binds the barbed end of filamentous actin to stabilize it and terminate elongation. Interaction of this protein with the barbed end of the actin filament occurs through binding of the amphipathic helix at the C-terminus to the hydrophobic cleft on the actin molecule. This gene is required for a variety of dynamic actin-mediated processes including organization of lamellipodia and filopodia, growth cone morphology and neurite outgrowth in hippocampal neurons, and asymmetric spindle migration and polar body extrusion during oocyte maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in the ear exhibit increased ABR threshold, absent DPOE, reduced vestibular function, head shaking and abnormal stereocilia length and width in the cochlea and utricle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
| Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
| Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
| Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
| Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
| Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
| Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
| Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
| Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
| Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
| Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
probably damaging |
Het |
|
| Other mutations in Capzb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Capzb
|
APN |
4 |
139,016,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00885:Capzb
|
APN |
4 |
139,014,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0612:Capzb
|
UTSW |
4 |
139,018,340 (GRCm39) |
missense |
probably benign |
|
|
R0729:Capzb
|
UTSW |
4 |
139,016,288 (GRCm39) |
unclassified |
probably benign |
|
|
R1547:Capzb
|
UTSW |
4 |
138,989,409 (GRCm39) |
splice site |
probably null |
|
|
R1731:Capzb
|
UTSW |
4 |
139,007,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Capzb
|
UTSW |
4 |
138,984,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Capzb
|
UTSW |
4 |
138,989,334 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2424:Capzb
|
UTSW |
4 |
138,921,441 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R4799:Capzb
|
UTSW |
4 |
138,920,310 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5076:Capzb
|
UTSW |
4 |
139,015,125 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6200:Capzb
|
UTSW |
4 |
139,007,324 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7587:Capzb
|
UTSW |
4 |
138,989,334 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7763:Capzb
|
UTSW |
4 |
139,007,864 (GRCm39) |
missense |
probably benign |
|
|
X0012:Capzb
|
UTSW |
4 |
138,984,602 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGGACCCTAGCTGCATG -3'
(R):5'- GCTGGCCATCACCTCATTTAAC -3'
Sequencing Primer
(F):5'- GACCCTAGCTGCATGGCTTC -3'
(R):5'- TGAAGGTCCTGAGTTCAATCCCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation