Incidental Mutation 'R1941:Spaca6'
ID |
214036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spaca6
|
Ensembl Gene |
ENSMUSG00000080316 |
Gene Name |
sperm acrosome associated 6 |
Synonyms |
B230206P06Rik, 4930546H06Rik, Ncrna00085 |
MMRRC Submission |
039959-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R1941 (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 G
at 18058692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 80
(E80G)
|
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 |
possibly damaging
Transcript: ENSMUST00000172097
AA Change: E297G
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128732 Gene: ENSMUSG00000080316 AA Change: E297G
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: ENSMUST00000155293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178056
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228490
AA Change: E80G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
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: ENSMUST00000226899
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.8%
- 20x: 91.1%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Art2b |
A |
C |
7: 101,229,524 (GRCm39) |
F125C |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,159,612 (GRCm39) |
Y1616C |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,082,048 (GRCm39) |
I1286L |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,703,697 (GRCm39) |
|
probably null |
Het |
Col11a2 |
T |
A |
17: 34,263,925 (GRCm39) |
S247T |
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,952,209 (GRCm39) |
D563A |
probably benign |
Het |
Crebbp |
C |
T |
16: 3,997,555 (GRCm39) |
M176I |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,295,256 (GRCm39) |
N454S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,024 (GRCm39) |
|
probably null |
Het |
Dock7 |
G |
A |
4: 98,872,952 (GRCm39) |
L1165F |
probably benign |
Het |
Fam117a |
A |
T |
11: 95,271,624 (GRCm39) |
N399Y |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,488 (GRCm39) |
K396R |
unknown |
Het |
Foxk1 |
T |
A |
5: 142,442,429 (GRCm39) |
V693E |
possibly damaging |
Het |
Gml |
A |
G |
15: 74,689,020 (GRCm39) |
L10P |
probably damaging |
Het |
Gpx8 |
A |
G |
13: 113,182,809 (GRCm39) |
L34P |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,684,162 (GRCm39) |
L689P |
possibly damaging |
Het |
Mt4 |
G |
A |
8: 94,864,874 (GRCm39) |
C16Y |
possibly damaging |
Het |
Naa15 |
C |
A |
3: 51,363,355 (GRCm39) |
Y346* |
probably null |
Het |
Ntrk3 |
C |
T |
7: 77,897,010 (GRCm39) |
V676I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,423 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,447 (GRCm39) |
F294I |
probably damaging |
Het |
Or6c215 |
T |
A |
10: 129,638,281 (GRCm39) |
M38L |
probably benign |
Het |
Or6c8 |
T |
G |
10: 128,915,823 (GRCm39) |
N3T |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,246 (GRCm39) |
S223F |
probably damaging |
Het |
Or7g20 |
A |
C |
9: 18,947,162 (GRCm39) |
T248P |
possibly damaging |
Het |
Otud7a |
C |
T |
7: 63,379,574 (GRCm39) |
R273* |
probably null |
Het |
Pcare |
T |
G |
17: 72,059,063 (GRCm39) |
T205P |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,121,594 (GRCm39) |
R329Q |
probably benign |
Het |
Pga5 |
G |
T |
19: 10,646,820 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,441,528 (GRCm39) |
|
probably null |
Het |
Pus10 |
A |
G |
11: 23,661,198 (GRCm39) |
Q262R |
possibly damaging |
Het |
Rbm17 |
T |
C |
2: 11,593,885 (GRCm39) |
K241R |
possibly damaging |
Het |
Rp1l1 |
T |
G |
14: 64,259,701 (GRCm39) |
D114E |
probably damaging |
Het |
Safb |
T |
A |
17: 56,905,992 (GRCm39) |
|
probably benign |
Het |
Sgpl1 |
T |
C |
10: 60,939,086 (GRCm39) |
Y371C |
probably damaging |
Het |
Siglec1 |
C |
A |
2: 130,920,051 (GRCm39) |
A827S |
possibly damaging |
Het |
Smg5 |
T |
A |
3: 88,252,687 (GRCm39) |
S158T |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Steap1 |
C |
A |
5: 5,790,541 (GRCm39) |
A136S |
probably damaging |
Het |
Supv3l1 |
G |
C |
10: 62,285,391 (GRCm39) |
P25R |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,268,458 (GRCm39) |
K108R |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,933,201 (GRCm39) |
Y688H |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,677,704 (GRCm39) |
E30K |
possibly damaging |
Het |
Tnrc18 |
G |
T |
5: 142,800,905 (GRCm39) |
P18T |
probably damaging |
Het |
Ttk |
T |
G |
9: 83,735,179 (GRCm39) |
S422A |
probably benign |
Het |
Ubap1 |
A |
G |
4: 41,378,968 (GRCm39) |
K61E |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,284,952 (GRCm39) |
R522H |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,616,242 (GRCm39) |
E1185D |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,244,547 (GRCm39) |
T194A |
probably benign |
Het |
Zfp36 |
A |
G |
7: 28,077,071 (GRCm39) |
V279A |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,101,778 (GRCm39) |
R517L |
possibly 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 |
18,058,664 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGGCTCTACTTTTATCTGAACG -3'
(R):5'- GAAGACTTGGGTTGGACTGC -3'
Sequencing Primer
(F):5'- CGGGCGGGGTGAGGATATG -3'
(R):5'- TCACCACACTAGCAGAGTA -3'
|
Posted On |
2014-07-14 |