Incidental Mutation 'R5854:Spaca6'
| ID |
454840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spaca6
|
| Ensembl Gene |
ENSMUSG00000080316 |
| Gene Name |
sperm acrosome associated 6 |
| Synonyms |
B230206P06Rik, 4930546H06Rik, Ncrna00085 |
| MMRRC Submission |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18047420-18063271 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 18051509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 82
(K82*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000139969]
[ENSMUST00000150302]
[ENSMUST00000172097]
[ENSMUST00000226899]
[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 null
Transcript: ENSMUST00000139969
AA Change: K62*
|
| SMART Domains |
Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
AA Change: K62*
| 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: ENSMUST00000172097
AA Change: K82*
|
| SMART Domains |
Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: K82*
| 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: ENSMUST00000177859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226899
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228490
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
R5528:Spaca6
|
UTSW |
17 |
18,051,344 (GRCm39) |
missense |
probably benign |
|
|
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'- TATCTTCTCCTCAGACCCGG -3'
(R):5'- GTCTCCACCCCACTCTGGA -3'
Sequencing Primer
(F):5'- ACCCGGAGACCCTCTGTTATG -3'
(R):5'- ACCCCACTCTGGACCTGTTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation