Incidental Mutation 'IGL01466:Acr'
ID |
88102 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acr
|
Ensembl Gene |
ENSMUSG00000022622 |
Gene Name |
acrosin prepropeptide |
Synonyms |
preproacrosin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL01466
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89452549-89458790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89458197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 293
(N293D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023295
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023295]
|
AlphaFold |
P23578 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023295
AA Change: N293D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023295 Gene: ENSMUSG00000022622 AA Change: N293D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Tryp_SPc
|
42 |
286 |
6.84e-91 |
SMART |
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
low complexity region
|
329 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230538
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231216
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008] PHENOTYPE: Males homozygous for a targeted null mutation produce sperm that shows delayed fertilization in vitro. Sperm from mutant gonial cells are ineffective at fertilization in competition with normal sperm both in vitro and in vivo. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd49 |
A |
G |
9: 14,692,645 (GRCm39) |
L173P |
probably damaging |
Het |
Ccdc152 |
A |
G |
15: 3,323,329 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
G |
T |
8: 107,263,227 (GRCm39) |
R92L |
possibly damaging |
Het |
Dnajc10 |
A |
T |
2: 80,151,631 (GRCm39) |
R137S |
probably benign |
Het |
Htra2 |
A |
G |
6: 83,031,304 (GRCm39) |
L35P |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,403,626 (GRCm39) |
M425K |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,296,455 (GRCm39) |
R241L |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,176,894 (GRCm39) |
D630G |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Peli2 |
T |
C |
14: 48,493,914 (GRCm39) |
Y379H |
probably damaging |
Het |
Plekhg6 |
G |
T |
6: 125,349,587 (GRCm39) |
|
probably benign |
Het |
Samd14 |
G |
T |
11: 94,914,081 (GRCm39) |
|
probably benign |
Het |
Setd7 |
A |
T |
3: 51,428,730 (GRCm39) |
*367R |
probably null |
Het |
Slc26a8 |
A |
G |
17: 28,873,922 (GRCm39) |
V355A |
probably benign |
Het |
Slc46a2 |
T |
A |
4: 59,911,926 (GRCm39) |
K429* |
probably null |
Het |
Styxl2 |
T |
G |
1: 165,928,073 (GRCm39) |
D513A |
probably damaging |
Het |
Tspan32 |
T |
C |
7: 142,568,691 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,661,645 (GRCm39) |
V1690A |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,643,819 (GRCm39) |
Q4394K |
probably benign |
Het |
Zfp277 |
C |
A |
12: 40,428,825 (GRCm39) |
G174V |
probably benign |
Het |
|
Other mutations in Acr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00553:Acr
|
APN |
15 |
89,457,453 (GRCm39) |
missense |
probably benign |
0.19 |
IGL00857:Acr
|
APN |
15 |
89,454,205 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01353:Acr
|
APN |
15 |
89,453,695 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01599:Acr
|
APN |
15 |
89,452,617 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02408:Acr
|
APN |
15 |
89,454,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:Acr
|
UTSW |
15 |
89,458,535 (GRCm39) |
missense |
probably benign |
|
R0398:Acr
|
UTSW |
15 |
89,458,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R0520:Acr
|
UTSW |
15 |
89,457,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Acr
|
UTSW |
15 |
89,453,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R0579:Acr
|
UTSW |
15 |
89,453,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Acr
|
UTSW |
15 |
89,458,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Acr
|
UTSW |
15 |
89,457,346 (GRCm39) |
missense |
probably benign |
0.00 |
R2006:Acr
|
UTSW |
15 |
89,458,404 (GRCm39) |
missense |
probably benign |
0.00 |
R5531:Acr
|
UTSW |
15 |
89,458,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R5577:Acr
|
UTSW |
15 |
89,458,441 (GRCm39) |
missense |
probably benign |
0.01 |
R7033:Acr
|
UTSW |
15 |
89,453,703 (GRCm39) |
missense |
probably benign |
0.03 |
R7206:Acr
|
UTSW |
15 |
89,458,374 (GRCm39) |
missense |
probably benign |
|
R7484:Acr
|
UTSW |
15 |
89,457,427 (GRCm39) |
missense |
probably damaging |
0.99 |
R7548:Acr
|
UTSW |
15 |
89,458,596 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8001:Acr
|
UTSW |
15 |
89,458,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R8325:Acr
|
UTSW |
15 |
89,453,954 (GRCm39) |
missense |
probably benign |
0.22 |
R8852:Acr
|
UTSW |
15 |
89,458,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R8860:Acr
|
UTSW |
15 |
89,458,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R9683:Acr
|
UTSW |
15 |
89,457,440 (GRCm39) |
nonsense |
probably null |
|
Z1177:Acr
|
UTSW |
15 |
89,454,082 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2013-11-18 |