Incidental Mutation 'R9120:Spaca1'
| ID |
692718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spaca1
|
| Ensembl Gene |
ENSMUSG00000028264 |
| Gene Name |
sperm acrosome associated 1 |
| Synonyms |
1700124L11Rik, 4930540L03Rik |
| MMRRC Submission |
068923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
34024872-34050067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34029168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 220
(S220P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029927]
[ENSMUST00000084734]
[ENSMUST00000108148]
|
| AlphaFold |
Q9DA48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029927
AA Change: S220P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264
AA Change: S220P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
79 |
N/A |
INTRINSIC |
|
transmembrane domain
|
228 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084734
AA Change: S220P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264
AA Change: S220P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
79 |
N/A |
INTRINSIC |
|
transmembrane domain
|
228 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108148
AA Change: S102P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103783
Gene: ENSMUSG00000028264
AA Change: S102P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice are infertile and display globozoospermia and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,209,141 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
A |
G |
4: 129,906,302 (GRCm39) |
N910S |
possibly damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,016 (GRCm39) |
I411F |
probably benign |
Het |
| BC030500 |
T |
A |
8: 59,365,911 (GRCm39) |
L15Q |
unknown |
Het |
| BC051665 |
A |
G |
13: 60,932,916 (GRCm39) |
V15A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,776,862 (GRCm39) |
D732G |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,692 (GRCm39) |
I71V |
probably benign |
Het |
| Btnl1 |
A |
T |
17: 34,598,681 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Castor1 |
T |
A |
11: 4,170,767 (GRCm39) |
V196D |
possibly damaging |
Het |
| Col9a2 |
G |
T |
4: 120,900,951 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,871,986 (GRCm39) |
D625V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,187,535 (GRCm39) |
D1327V |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,275,458 (GRCm39) |
V543A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,768,545 (GRCm39) |
D714E |
probably benign |
Het |
| Dlk1 |
A |
G |
12: 109,424,051 (GRCm39) |
D105G |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,802,133 (GRCm39) |
F557L |
probably benign |
Het |
| Gm28042 |
C |
T |
2: 119,869,462 (GRCm39) |
L609F |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,458,434 (GRCm39) |
I473V |
probably damaging |
Het |
| Jag1 |
A |
T |
2: 136,930,354 (GRCm39) |
M730K |
probably benign |
Het |
| Kazald1 |
A |
T |
19: 45,065,211 (GRCm39) |
T31S |
probably benign |
Het |
| Ldhb |
A |
G |
6: 142,439,935 (GRCm39) |
W202R |
probably damaging |
Het |
| Lrrcc1 |
C |
T |
3: 14,615,489 (GRCm39) |
Q528* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,733,305 (GRCm39) |
K525I |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,218 (GRCm39) |
I703V |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,701,814 (GRCm39) |
M1516L |
probably damaging |
Het |
| Mpzl2 |
T |
A |
9: 44,958,583 (GRCm39) |
S186R |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,483,951 (GRCm39) |
M208T |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,436,464 (GRCm39) |
V873A |
probably benign |
Het |
| Or10ac1 |
A |
C |
6: 42,515,583 (GRCm39) |
Y124* |
probably null |
Het |
| Or1j4 |
T |
A |
2: 36,740,143 (GRCm39) |
Y28* |
probably null |
Het |
| Or5d38 |
A |
G |
2: 87,955,123 (GRCm39) |
S69P |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,608,735 (GRCm39) |
F309S |
probably benign |
Het |
| Pgap4 |
A |
G |
4: 49,587,093 (GRCm39) |
V25A |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,424,380 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
A |
C |
13: 55,528,792 (GRCm39) |
D311A |
probably damaging |
Het |
| Rin1 |
C |
A |
19: 5,103,048 (GRCm39) |
P446T |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,822,835 (GRCm39) |
K909E |
possibly damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,685 (GRCm39) |
L570P |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,355,026 (GRCm39) |
E347G |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,200,233 (GRCm39) |
T2798K |
|
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Trim63 |
G |
A |
4: 134,055,003 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
C |
A |
16: 18,067,722 (GRCm39) |
R132S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,768,716 (GRCm39) |
E2952G |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,936 (GRCm39) |
F244I |
probably damaging |
Het |
| Vmn2r86 |
T |
G |
10: 130,289,677 (GRCm39) |
S73R |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,152,846 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,317,596 (GRCm39) |
N756S |
probably benign |
Het |
| Zfp57 |
G |
A |
17: 37,320,650 (GRCm39) |
R168H |
probably benign |
Het |
|
| Other mutations in Spaca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Spaca1
|
APN |
4 |
34,029,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01871:Spaca1
|
APN |
4 |
34,040,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
F5770:Spaca1
|
UTSW |
4 |
34,039,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4342:Spaca1
|
UTSW |
4 |
34,049,838 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Spaca1
|
UTSW |
4 |
34,049,856 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Spaca1
|
UTSW |
4 |
34,049,836 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Spaca1
|
UTSW |
4 |
34,049,849 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Spaca1
|
UTSW |
4 |
34,049,844 (GRCm39) |
small insertion |
probably benign |
|
|
R0377:Spaca1
|
UTSW |
4 |
34,044,267 (GRCm39) |
splice site |
probably null |
|
|
R1861:Spaca1
|
UTSW |
4 |
34,044,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3105:Spaca1
|
UTSW |
4 |
34,028,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Spaca1
|
UTSW |
4 |
34,044,236 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5030:Spaca1
|
UTSW |
4 |
34,039,247 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5137:Spaca1
|
UTSW |
4 |
34,029,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Spaca1
|
UTSW |
4 |
34,049,863 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6158:Spaca1
|
UTSW |
4 |
34,029,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6824:Spaca1
|
UTSW |
4 |
34,049,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8039:Spaca1
|
UTSW |
4 |
34,044,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8094:Spaca1
|
UTSW |
4 |
34,049,837 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8134:Spaca1
|
UTSW |
4 |
34,042,157 (GRCm39) |
splice site |
probably null |
|
|
RF006:Spaca1
|
UTSW |
4 |
34,049,853 (GRCm39) |
small insertion |
probably benign |
|
|
RF017:Spaca1
|
UTSW |
4 |
34,049,853 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Spaca1
|
UTSW |
4 |
34,049,854 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Spaca1
|
UTSW |
4 |
34,049,846 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Spaca1
|
UTSW |
4 |
34,049,854 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Spaca1
|
UTSW |
4 |
34,049,846 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Spaca1
|
UTSW |
4 |
34,049,841 (GRCm39) |
small insertion |
probably benign |
|
|
V7580:Spaca1
|
UTSW |
4 |
34,039,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7581:Spaca1
|
UTSW |
4 |
34,039,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7582:Spaca1
|
UTSW |
4 |
34,039,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7583:Spaca1
|
UTSW |
4 |
34,039,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAAATGCGTGGGGATTG -3'
(R):5'- ATACAGCCAGGATAGTCTGTTTGAG -3'
Sequencing Primer
(F):5'- TTGAGGAAGATGTCAGTCTAAGGTG -3'
(R):5'- CCAGGATAGTCTGTTTGAGAAAGTCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation