Incidental Mutation 'R9713:Spaca6'
| ID |
730334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spaca6
|
| Ensembl Gene |
ENSMUSG00000080316 |
| Gene Name |
sperm acrosome associated 6 |
| Synonyms |
B230206P06Rik, 4930546H06Rik, Ncrna00085 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R9713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18047420-18063271 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 18058498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 39
(Y39*)
|
| 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 |
probably null
Transcript: ENSMUST00000154301
AA Change: Y75*
|
| SMART Domains |
Protein: ENSMUSP00000117377
Gene: ENSMUSG00000080316
AA Change: Y75*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
27 |
78 |
2e-32 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155293
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172097
AA Change: Y256*
|
| SMART Domains |
Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: Y256*
| 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: ENSMUST00000179350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228490
AA Change: Y39*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226899
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
T |
14: 41,820,060 (GRCm39) |
I107F |
probably benign |
Het |
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,528,556 (GRCm39) |
I277N |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,885,560 (GRCm39) |
Y851F |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,801,751 (GRCm39) |
S731P |
probably damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,176,730 (GRCm39) |
S221P |
possibly damaging |
Het |
| Dact3 |
A |
T |
7: 16,620,292 (GRCm39) |
I596F |
unknown |
Het |
| Eya4 |
A |
T |
10: 23,027,870 (GRCm39) |
Y287* |
probably null |
Het |
| Folr2 |
T |
C |
7: 101,489,809 (GRCm39) |
D153G |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,866,409 (GRCm39) |
I37L |
probably benign |
Het |
| H2ac8 |
G |
A |
13: 23,755,041 (GRCm39) |
P81L |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,823,328 (GRCm39) |
M1027T |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,342 (GRCm39) |
|
probably null |
Het |
| Igkv4-74 |
A |
G |
6: 69,161,993 (GRCm39) |
Y59H |
probably damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,489 (GRCm39) |
V70A |
probably benign |
Het |
| Klrh1 |
A |
G |
6: 129,752,359 (GRCm39) |
V52A |
possibly damaging |
Het |
| Ly9 |
A |
C |
1: 171,428,756 (GRCm39) |
I288S |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,678 (GRCm39) |
E3208G |
probably benign |
Het |
| Myo1b |
G |
A |
1: 51,818,766 (GRCm39) |
T503I |
possibly damaging |
Het |
| Ntm |
T |
A |
9: 29,090,327 (GRCm39) |
I131F |
possibly damaging |
Het |
| Odad1 |
T |
G |
7: 45,578,562 (GRCm39) |
V45G |
probably damaging |
Het |
| Or1p4-ps1 |
A |
G |
11: 74,208,078 (GRCm39) |
T76A |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,633 (GRCm39) |
*317Q |
probably null |
Het |
| Or52ae7 |
C |
T |
7: 103,119,914 (GRCm39) |
L223F |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,727 (GRCm39) |
Y232F |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,488,041 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,828,123 (GRCm39) |
S1317P |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,244,331 (GRCm39) |
R235C |
unknown |
Het |
| Sycp2l |
C |
A |
13: 41,326,183 (GRCm39) |
A746D |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,867,229 (GRCm39) |
E158G |
possibly damaging |
Het |
| Trim26 |
A |
T |
17: 37,168,307 (GRCm39) |
D324V |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,353,475 (GRCm39) |
S42P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,682,434 (GRCm39) |
E952* |
probably null |
Het |
| Ulk4 |
C |
A |
9: 120,873,862 (GRCm39) |
E1190* |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,458 (GRCm39) |
S229T |
probably damaging |
Het |
| Wwc1 |
C |
A |
11: 35,766,576 (GRCm39) |
A560S |
probably benign |
Het |
| Zfp787 |
A |
G |
7: 6,146,059 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Z1177:Spaca6
|
UTSW |
17 |
18,051,314 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTCCCGGTGCATTTAAGC -3'
(R):5'- TAAGTAGTTCGCCTAGGCTGGG -3'
Sequencing Primer
(F):5'- GCATTTAAGCACTTCAGCCTCAG -3'
(R):5'- GCCTAGGCTGGGGCTCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation