Incidental Mutation 'R4421:Capza3'
| ID |
327098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capza3
|
| Ensembl Gene |
ENSMUSG00000041791 |
| Gene Name |
capping actin protein of muscle Z-line subunit alpha 3 |
| Synonyms |
Tex8, repro32, cp alpha3, Gsg3, Cappa3, 510-4 |
| MMRRC Submission |
041142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R4421 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139987283-139988563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139987768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 122
(M122I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000043797]
[ENSMUST00000129986]
[ENSMUST00000137148]
[ENSMUST00000149931]
|
| AlphaFold |
P70190 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032356
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
80 |
162 |
9.6e-26 |
PFAM |
|
PLCXc
|
163 |
307 |
5.17e-72 |
SMART |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
PLCYc
|
386 |
502 |
1.52e-51 |
SMART |
|
C2
|
521 |
625 |
2.06e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043797
AA Change: M122I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
AA Change: M122I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
12 |
278 |
7.3e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204342
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for an ENU-induced mutation are infertile, exhibit low epididymal sperm concentrations, and produce sperm with abnormally shaped heads and poor motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
C |
9: 106,312,912 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,714,421 (GRCm39) |
E234G |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,174 (GRCm39) |
D673G |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,800 (GRCm39) |
S735P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,441,508 (GRCm39) |
F13L |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,672 (GRCm39) |
M1078K |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,360,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,623,221 (GRCm39) |
*299W |
probably null |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,713 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,121,964 (GRCm39) |
Y160N |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,648,321 (GRCm39) |
R60W |
probably damaging |
Het |
| Gbp10 |
T |
C |
5: 105,372,517 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,283,891 (GRCm39) |
T467A |
possibly damaging |
Het |
| Hip1r |
G |
C |
5: 124,135,925 (GRCm39) |
G542A |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,867,360 (GRCm39) |
Y761C |
probably benign |
Het |
| Krt13 |
T |
G |
11: 100,009,761 (GRCm39) |
T340P |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,071,412 (GRCm39) |
C435R |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,739 (GRCm39) |
I53K |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,929,707 (GRCm39) |
F544L |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,219,026 (GRCm39) |
S46* |
probably null |
Het |
| Nsd3 |
T |
A |
8: 26,131,288 (GRCm39) |
S218T |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p22 |
A |
T |
2: 88,317,585 (GRCm39) |
N170Y |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,425,056 (GRCm39) |
D433E |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,154,836 (GRCm39) |
D278G |
probably damaging |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,723,719 (GRCm39) |
E311G |
probably damaging |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Capza3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02138:Capza3
|
APN |
6 |
139,987,872 (GRCm39) |
missense |
probably benign |
|
|
IGL02228:Capza3
|
APN |
6 |
139,987,641 (GRCm39) |
missense |
probably benign |
|
|
R1953:Capza3
|
UTSW |
6 |
139,988,294 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4272:Capza3
|
UTSW |
6 |
139,988,264 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4278:Capza3
|
UTSW |
6 |
139,987,786 (GRCm39) |
nonsense |
probably null |
|
|
R5504:Capza3
|
UTSW |
6 |
139,988,165 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7070:Capza3
|
UTSW |
6 |
139,987,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Capza3
|
UTSW |
6 |
139,987,498 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8881:Capza3
|
UTSW |
6 |
139,987,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Capza3
|
UTSW |
6 |
139,987,712 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTTATGCACCATCAGGG -3'
(R):5'- CGGGTTTACCTGGAAGATCC -3'
Sequencing Primer
(F):5'- GCACTGCCAAAAATACTGTGTC -3'
(R):5'- GGTTTACCTGGAAGATCCACTTAGAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation