Incidental Mutation 'IGL03352:Spaca6'
| ID |
419784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spaca6
|
| Ensembl Gene |
ENSMUSG00000080316 |
| Gene Name |
sperm acrosome associated 6 |
| Synonyms |
B230206P06Rik, 4930546H06Rik, Ncrna00085 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL03352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
18047420-18063271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18058401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 7
(Y7C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000139969]
[ENSMUST00000150302]
[ENSMUST00000172097]
[ENSMUST00000228490]
[ENSMUST00000226899]
|
| AlphaFold |
E9Q8Q8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000012759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000052338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139969
|
| SMART Domains |
Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:IG
|
151 |
186 |
1e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150302
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154301
AA Change: Y43C
|
| SMART Domains |
Protein: ENSMUSP00000117377
Gene: ENSMUSG00000080316
AA Change: Y43C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
27 |
78 |
2e-32 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155293
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172097
AA Change: Y224C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: Y224C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
IG
|
171 |
260 |
2.08e-1 |
SMART |
|
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177859
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228490
AA Change: Y7C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226899
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgene insertion that inactivates this gene exhibit impaired fertilization and male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoah |
A |
G |
13: 21,184,213 (GRCm39) |
S426G |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,114,355 (GRCm39) |
|
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,866,585 (GRCm39) |
N1029K |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,311,242 (GRCm39) |
M1K |
probably null |
Het |
| Bloc1s6 |
T |
C |
2: 122,584,638 (GRCm39) |
L71P |
probably damaging |
Het |
| Ccer1 |
G |
T |
10: 97,529,439 (GRCm39) |
R34M |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,675,759 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,669,814 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,117,662 (GRCm39) |
E38G |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,013 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,660,689 (GRCm39) |
M343L |
probably benign |
Het |
| Eif3l |
G |
A |
15: 78,961,251 (GRCm39) |
|
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,292,398 (GRCm39) |
L150P |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,801 (GRCm39) |
S610A |
unknown |
Het |
| Grin3b |
C |
T |
10: 79,809,615 (GRCm39) |
R374C |
probably damaging |
Het |
| H2-Oa |
A |
T |
17: 34,313,377 (GRCm39) |
I143F |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,022,556 (GRCm39) |
P924S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,058,602 (GRCm39) |
D2521V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,475,445 (GRCm39) |
M468K |
probably damaging |
Het |
| Laptm4a |
G |
A |
12: 8,981,719 (GRCm39) |
G143D |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,456,726 (GRCm39) |
Y846C |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 4,999,407 (GRCm39) |
S749T |
probably damaging |
Het |
| Nemf |
T |
C |
12: 69,378,679 (GRCm39) |
N548D |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,251 (GRCm39) |
L246Q |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,001,157 (GRCm39) |
C466* |
probably null |
Het |
| Olfm2 |
T |
C |
9: 20,580,019 (GRCm39) |
D252G |
probably damaging |
Het |
| Or10j5 |
A |
C |
1: 172,784,850 (GRCm39) |
M163L |
probably benign |
Het |
| Or14j9 |
T |
A |
17: 37,874,681 (GRCm39) |
I174F |
probably damaging |
Het |
| Or2h1 |
G |
A |
17: 37,404,311 (GRCm39) |
L152F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,292 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb14 |
C |
T |
18: 37,582,057 (GRCm39) |
R388C |
possibly damaging |
Het |
| Piwil1 |
C |
T |
5: 128,828,136 (GRCm39) |
T712I |
probably benign |
Het |
| Piwil4 |
G |
T |
9: 14,637,183 (GRCm39) |
T377K |
probably damaging |
Het |
| Prg3 |
T |
C |
2: 84,823,370 (GRCm39) |
F182L |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,575,666 (GRCm39) |
V19A |
probably damaging |
Het |
| Rpl21-ps4 |
A |
T |
14: 11,227,760 (GRCm38) |
|
noncoding transcript |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,363 (GRCm39) |
V370A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 112,022,883 (GRCm39) |
W459C |
possibly damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,857,611 (GRCm39) |
R573S |
probably benign |
Het |
| Smgc |
T |
C |
15: 91,744,876 (GRCm39) |
S694P |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
| Tepsin |
C |
T |
11: 119,982,703 (GRCm39) |
V456I |
probably benign |
Het |
| Tex261 |
C |
T |
6: 83,748,249 (GRCm39) |
R171Q |
possibly damaging |
Het |
| Tmem184a |
A |
T |
5: 139,798,755 (GRCm39) |
F65I |
probably damaging |
Het |
| Tpm3 |
G |
A |
3: 89,995,052 (GRCm39) |
|
probably null |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,940 (GRCm39) |
H671L |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,237,110 (GRCm39) |
D3393E |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,853,125 (GRCm39) |
M612L |
probably benign |
Het |
| Vmn1r180 |
C |
A |
7: 23,652,077 (GRCm39) |
S80* |
probably null |
Het |
| Vmn1r64 |
C |
T |
7: 5,887,070 (GRCm39) |
V158I |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,894,072 (GRCm39) |
V496I |
possibly damaging |
Het |
| Wee2 |
T |
G |
6: 40,429,589 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
C |
5: 6,820,039 (GRCm39) |
N972S |
probably benign |
Het |
|
| Other mutations in Spaca6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Spaca6
|
APN |
17 |
18,051,429 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02630:Spaca6
|
APN |
17 |
18,051,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Spaca6
|
APN |
17 |
18,058,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0021:Spaca6
|
UTSW |
17 |
18,058,498 (GRCm39) |
nonsense |
probably null |
|
|
R0964:Spaca6
|
UTSW |
17 |
18,058,653 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1941:Spaca6
|
UTSW |
17 |
18,058,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1941:Spaca6
|
UTSW |
17 |
18,058,664 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2197:Spaca6
|
UTSW |
17 |
18,056,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2235:Spaca6
|
UTSW |
17 |
18,058,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4602:Spaca6
|
UTSW |
17 |
18,051,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Spaca6
|
UTSW |
17 |
18,056,307 (GRCm39) |
intron |
probably benign |
|
|
R4672:Spaca6
|
UTSW |
17 |
18,057,005 (GRCm39) |
nonsense |
probably null |
|
|
R5044:Spaca6
|
UTSW |
17 |
18,051,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5212:Spaca6
|
UTSW |
17 |
18,058,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5222:Spaca6
|
UTSW |
17 |
18,058,367 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5528:Spaca6
|
UTSW |
17 |
18,051,344 (GRCm39) |
missense |
probably benign |
|
|
R5854:Spaca6
|
UTSW |
17 |
18,051,509 (GRCm39) |
nonsense |
probably null |
|
|
R6029:Spaca6
|
UTSW |
17 |
18,051,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7041:Spaca6
|
UTSW |
17 |
18,056,358 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7268:Spaca6
|
UTSW |
17 |
18,052,369 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8281:Spaca6
|
UTSW |
17 |
18,052,321 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8840:Spaca6
|
UTSW |
17 |
18,051,365 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8926:Spaca6
|
UTSW |
17 |
18,058,790 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8965:Spaca6
|
UTSW |
17 |
18,058,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9404:Spaca6
|
UTSW |
17 |
18,057,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Spaca6
|
UTSW |
17 |
18,057,829 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9713:Spaca6
|
UTSW |
17 |
18,058,498 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Spaca6
|
UTSW |
17 |
18,051,314 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2016-08-02 |
Incidental Mutation