Incidental Mutation 'IGL02630:Spaca6'
ID |
301256 |
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 # |
IGL02630
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
18047420-18063271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18051351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 9
(L9Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000139969]
[ENSMUST00000172097]
[ENSMUST00000228490]
[ENSMUST00000226899]
[ENSMUST00000150302]
|
AlphaFold |
E9Q8Q8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000012759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083462
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083545
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133912
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137228
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139969
AA Change: L9Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119658 Gene: ENSMUSG00000080316 AA Change: L9Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:IG
|
151 |
186 |
1e-17 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172097
AA Change: L29Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128732 Gene: ENSMUSG00000080316 AA Change: L29Q
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: ENSMUST00000196737
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178408
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150302
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
Chka |
T |
A |
19: 3,942,112 (GRCm39) |
H355Q |
possibly damaging |
Het |
Ctsj |
C |
T |
13: 61,149,214 (GRCm39) |
A277T |
probably damaging |
Het |
Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
Nt5c2 |
T |
A |
19: 46,912,749 (GRCm39) |
M69L |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,143,586 (GRCm39) |
V750A |
possibly damaging |
Het |
Sycp1 |
T |
C |
3: 102,786,080 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,659,404 (GRCm39) |
D176E |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
probably damaging |
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 |
IGL03010:Spaca6
|
APN |
17 |
18,058,667 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03352:Spaca6
|
APN |
17 |
18,058,401 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |