Incidental Mutation 'R5212:Spaca6'
| ID |
403212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spaca6
|
| Ensembl Gene |
ENSMUSG00000080316 |
| Gene Name |
sperm acrosome associated 6 |
| Synonyms |
B230206P06Rik, 4930546H06Rik, Ncrna00085 |
| MMRRC Submission |
042786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5212 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18047420-18063271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 18058656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 68
(P68Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003762]
[ENSMUST00000139969]
[ENSMUST00000150302]
[ENSMUST00000172097]
[ENSMUST00000228490]
[ENSMUST00000226899]
|
| AlphaFold |
E9Q8Q8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003762
|
| SMART Domains |
Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
86 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
179 |
387 |
1.1e-21 |
PFAM |
|
Pfam:Glyco_transf_21
|
205 |
386 |
1.2e-8 |
PFAM |
|
Pfam:Chitin_synth_2
|
222 |
394 |
1.6e-16 |
PFAM |
|
Pfam:Glyco_trans_2_3
|
237 |
453 |
5.6e-16 |
PFAM |
|
transmembrane domain
|
464 |
486 |
N/A |
INTRINSIC |
|
transmembrane domain
|
501 |
523 |
N/A |
INTRINSIC |
|
transmembrane domain
|
544 |
566 |
N/A |
INTRINSIC |
|
| 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 benign
Transcript: ENSMUST00000154301
|
| SMART Domains |
Protein: ENSMUSP00000117377
Gene: ENSMUSG00000080316
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
27 |
78 |
2e-32 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172097
AA Change: P285Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: P285Q
| 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: ENSMUST00000179350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177859
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228490
AA Change: P68Q
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226899
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,771,611 (GRCm39) |
S267T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 109,998,052 (GRCm39) |
D1514G |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,584,980 (GRCm39) |
D896V |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
| Arglu1 |
T |
A |
8: 8,733,843 (GRCm39) |
R158W |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,778,388 (GRCm39) |
E46G |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,613,055 (GRCm39) |
V1172A |
probably benign |
Het |
| Bhlhe23 |
T |
A |
2: 180,417,886 (GRCm39) |
K217N |
probably damaging |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Ccp110 |
C |
T |
7: 118,328,919 (GRCm39) |
A845V |
probably damaging |
Het |
| Cd63 |
A |
G |
10: 128,747,722 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,723,072 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
A |
5: 123,768,744 (GRCm39) |
R618S |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,843,739 (GRCm39) |
F1731L |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,390,923 (GRCm39) |
K728Q |
possibly damaging |
Het |
| Emc2 |
A |
G |
15: 43,374,240 (GRCm39) |
E180G |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,440,725 (GRCm39) |
I394F |
probably benign |
Het |
| Fnta |
A |
G |
8: 26,499,735 (GRCm39) |
I155T |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,685 (GRCm39) |
E331V |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,684 (GRCm39) |
E331D |
probably benign |
Het |
| Gas2l1 |
A |
T |
11: 5,011,108 (GRCm39) |
C574S |
probably benign |
Het |
| Ggnbp2 |
T |
A |
11: 84,744,847 (GRCm39) |
|
probably benign |
Het |
| Gm3371 |
A |
C |
14: 44,641,111 (GRCm39) |
|
probably benign |
Het |
| Gm7489 |
T |
A |
15: 53,749,016 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
A |
C |
11: 57,722,273 (GRCm39) |
F114V |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,110,939 (GRCm39) |
H259P |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,262,245 (GRCm39) |
H183L |
probably benign |
Het |
| Kifbp |
A |
T |
10: 62,398,908 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,402 (GRCm39) |
A369D |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,484 (GRCm39) |
S301G |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,678,504 (GRCm39) |
T248A |
probably benign |
Het |
| Madcam1 |
C |
G |
10: 79,504,179 (GRCm39) |
T255S |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,929,775 (GRCm39) |
Y71H |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,455,850 (GRCm39) |
I107V |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,547 (GRCm39) |
F328S |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,944,373 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,063,342 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
A |
T |
14: 76,370,538 (GRCm39) |
N413I |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,178,793 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,698,279 (GRCm39) |
G419R |
probably benign |
Het |
| Rfx1 |
G |
T |
8: 84,793,221 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,839,045 (GRCm39) |
A68V |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,101,212 (GRCm39) |
M776K |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,450,238 (GRCm39) |
Y63N |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,319,178 (GRCm39) |
E320G |
probably damaging |
Het |
| Tdrd3 |
G |
C |
14: 87,743,651 (GRCm39) |
R527P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,377,492 (GRCm39) |
Q202K |
probably benign |
Het |
| Tmprss6 |
A |
G |
15: 78,330,460 (GRCm39) |
V69A |
probably damaging |
Het |
| Trav6-1 |
A |
T |
14: 52,876,161 (GRCm39) |
Q27L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,731,957 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,619,945 (GRCm39) |
I15908V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,628,019 (GRCm39) |
D12931V |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,902 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,578,645 (GRCm39) |
N69S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCTCTACTTTTATCTGAACGG -3'
(R):5'- AGAAGACTTGGGTTGGACTGC -3'
Sequencing Primer
(F):5'- GTACGGGCGGGGTGAGG -3'
(R):5'- GAATAGGTTGCCAAGCGT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation