Incidental Mutation 'R5528:Spaca6'
ID |
433551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spaca6
|
Ensembl Gene |
ENSMUSG00000080316 |
Gene Name |
sperm acrosome associated 6 |
Synonyms |
B230206P06Rik, 4930546H06Rik, Ncrna00085 |
MMRRC Submission |
043086-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R5528 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18047420-18063271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 18051344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 27
(I27L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000139969]
[ENSMUST00000172097]
[ENSMUST00000226899]
[ENSMUST00000150302]
[ENSMUST00000228490]
|
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 benign
Transcript: ENSMUST00000139969
AA Change: I7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119658 Gene: ENSMUSG00000080316 AA Change: I7L
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: ENSMUST00000172097
AA Change: I27L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128732 Gene: ENSMUSG00000080316 AA Change: I27L
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: ENSMUST00000178408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196737
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150302
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228490
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,772,260 (GRCm39) |
L483P |
probably benign |
Het |
4930519G04Rik |
T |
G |
5: 115,012,415 (GRCm39) |
|
probably null |
Het |
Ablim2 |
C |
T |
5: 36,013,510 (GRCm39) |
Q148* |
probably null |
Het |
Ap3s2 |
A |
T |
7: 79,530,234 (GRCm39) |
*194R |
probably null |
Het |
Arpp21 |
C |
T |
9: 111,978,421 (GRCm39) |
A235T |
probably benign |
Het |
C9orf72 |
T |
C |
4: 35,213,556 (GRCm39) |
D198G |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,936,078 (GRCm39) |
D939G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,320,610 (GRCm39) |
I734N |
probably damaging |
Het |
Clcn1 |
C |
A |
6: 42,277,275 (GRCm39) |
N455K |
probably benign |
Het |
Cpne8 |
C |
T |
15: 90,503,893 (GRCm39) |
V91I |
possibly damaging |
Het |
Cstdc7 |
A |
G |
18: 42,306,727 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,279,295 (GRCm39) |
V448A |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Eeig1 |
G |
A |
2: 32,456,339 (GRCm39) |
A334T |
probably damaging |
Het |
Eif2a |
G |
T |
3: 58,455,933 (GRCm39) |
D311Y |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,258,419 (GRCm39) |
E512K |
probably damaging |
Het |
Esp15 |
A |
T |
17: 39,955,640 (GRCm39) |
Y69F |
probably benign |
Het |
Gucy1a1 |
A |
T |
3: 82,016,380 (GRCm39) |
Y203N |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,562,321 (GRCm39) |
Q248R |
probably damaging |
Het |
Ifit2 |
T |
A |
19: 34,550,937 (GRCm39) |
V159E |
possibly damaging |
Het |
Il17rd |
T |
C |
14: 26,810,024 (GRCm39) |
V20A |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,897,027 (GRCm39) |
D291V |
probably damaging |
Het |
Klf11 |
A |
T |
12: 24,704,929 (GRCm39) |
M111L |
probably benign |
Het |
Lama5 |
T |
A |
2: 179,836,356 (GRCm39) |
H1165L |
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,139,522 (GRCm39) |
N702S |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,307,736 (GRCm39) |
V323A |
probably damaging |
Het |
Mkrn3 |
T |
C |
7: 62,068,735 (GRCm39) |
E352G |
possibly damaging |
Het |
Ms4a19 |
T |
C |
19: 11,118,999 (GRCm39) |
S37G |
possibly damaging |
Het |
Mtf2 |
T |
A |
5: 108,242,023 (GRCm39) |
L277Q |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,775,918 (GRCm39) |
N370D |
probably benign |
Het |
Nlrp4e |
A |
C |
7: 23,036,316 (GRCm39) |
K723T |
probably benign |
Het |
Nsun3 |
A |
G |
16: 62,555,689 (GRCm39) |
V279A |
possibly damaging |
Het |
Pde6b |
A |
G |
5: 108,571,424 (GRCm39) |
D459G |
probably benign |
Het |
Phgdh |
T |
C |
3: 98,235,655 (GRCm39) |
I121V |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,386,803 (GRCm39) |
C811R |
probably damaging |
Het |
Trmt1l |
G |
A |
1: 151,330,746 (GRCm39) |
V588I |
probably benign |
Het |
Tshr |
A |
G |
12: 91,503,967 (GRCm39) |
N302D |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,689,961 (GRCm39) |
D279G |
probably damaging |
Het |
Wnt3a |
T |
C |
11: 59,166,106 (GRCm39) |
N58S |
probably damaging |
Het |
Zkscan8 |
A |
G |
13: 21,704,895 (GRCm39) |
V276A |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGGGATTTCAGGTGACCCC -3'
(R):5'- CTTGGAGTAGCTCAAGGAATCTC -3'
Sequencing Primer
(F):5'- GTGACCCCTGGCAACCTTC -3'
(R):5'- AGGGGCTCCTCACTGATTTTCATG -3'
|
Posted On |
2016-10-06 |