Incidental Mutation 'IGL02043:Spag8'
ID |
184840 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spag8
|
Ensembl Gene |
ENSMUSG00000066196 |
Gene Name |
sperm associated antigen 8 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL02043
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43651335-43653594 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 43653134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000030192]
[ENSMUST00000084646]
[ENSMUST00000107870]
[ENSMUST00000107874]
|
AlphaFold |
Q3V0Q6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030191
|
SMART Domains |
Protein: ENSMUSP00000030191 Gene: ENSMUSG00000028469
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
44 |
399 |
1.9e-45 |
PFAM |
Pfam:Pkinase_Tyr
|
518 |
786 |
4.7e-39 |
PFAM |
Pfam:Pkinase
|
535 |
785 |
1.2e-32 |
PFAM |
CYCc
|
825 |
1019 |
3.28e-111 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030192
|
SMART Domains |
Protein: ENSMUSP00000030192 Gene: ENSMUSG00000028470
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:DcpS_C
|
53 |
159 |
7.1e-25 |
PFAM |
Pfam:HIT
|
61 |
158 |
1.5e-30 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000084646
AA Change: H109L
|
SMART Domains |
Protein: ENSMUSP00000081696 Gene: ENSMUSG00000066196 AA Change: H109L
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
148 |
175 |
N/A |
INTRINSIC |
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000107870
AA Change: H109L
|
SMART Domains |
Protein: ENSMUSP00000103502 Gene: ENSMUSG00000066196 AA Change: H109L
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
148 |
175 |
N/A |
INTRINSIC |
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107874
|
SMART Domains |
Protein: ENSMUSP00000103506 Gene: ENSMUSG00000028469
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
44 |
399 |
5.7e-56 |
PFAM |
Pfam:Pkinase_Tyr
|
518 |
786 |
4.1e-39 |
PFAM |
Pfam:Pkinase
|
533 |
785 |
3.8e-34 |
PFAM |
CYCc
|
825 |
989 |
4.37e-57 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130093
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145817
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149575
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128549
|
SMART Domains |
Protein: ENSMUSP00000114385 Gene: ENSMUSG00000028469
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
84 |
352 |
1e-39 |
PFAM |
Pfam:Pkinase
|
101 |
351 |
2.6e-33 |
PFAM |
CYCc
|
391 |
585 |
3.28e-111 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1b2 |
T |
C |
11: 69,496,102 (GRCm39) |
T33A |
probably benign |
Het |
Brd2 |
A |
T |
17: 34,331,590 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,208,299 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
A |
T |
15: 16,856,318 (GRCm39) |
D786V |
probably damaging |
Het |
Cep128 |
A |
C |
12: 91,233,504 (GRCm39) |
|
probably benign |
Het |
Cep85 |
T |
C |
4: 133,883,038 (GRCm39) |
T284A |
probably benign |
Het |
Chrna1 |
C |
T |
2: 73,398,450 (GRCm39) |
E330K |
probably benign |
Het |
Clec2l |
T |
C |
6: 38,653,785 (GRCm39) |
Y104H |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,616,664 (GRCm39) |
K226N |
probably damaging |
Het |
Cmip |
T |
A |
8: 118,172,067 (GRCm39) |
D467E |
probably benign |
Het |
Cpne3 |
A |
T |
4: 19,543,340 (GRCm39) |
|
probably null |
Het |
Crisp4 |
A |
G |
1: 18,204,324 (GRCm39) |
V46A |
probably damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,116,070 (GRCm39) |
Y261H |
probably damaging |
Het |
Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
Czib |
T |
G |
4: 107,752,065 (GRCm39) |
|
probably benign |
Het |
Depdc7 |
T |
C |
2: 104,560,626 (GRCm39) |
T123A |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,547,661 (GRCm39) |
T384A |
probably damaging |
Het |
F8 |
C |
T |
X: 74,376,247 (GRCm39) |
M377I |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,021,367 (GRCm39) |
|
probably null |
Het |
Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
Gm4841 |
A |
C |
18: 60,404,037 (GRCm39) |
S19A |
probably benign |
Het |
Gm4862 |
T |
A |
3: 138,834,396 (GRCm39) |
|
noncoding transcript |
Het |
Hk3 |
T |
A |
13: 55,162,908 (GRCm39) |
Q44L |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,757,642 (GRCm39) |
L56F |
probably damaging |
Het |
Ldlr |
A |
G |
9: 21,644,795 (GRCm39) |
T108A |
probably benign |
Het |
Lgr4 |
T |
A |
2: 109,841,635 (GRCm39) |
M516K |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,587,537 (GRCm39) |
N3906S |
probably null |
Het |
Lrrtm4 |
A |
G |
6: 79,998,845 (GRCm39) |
N86D |
possibly damaging |
Het |
Map3k2 |
A |
G |
18: 32,340,587 (GRCm39) |
D198G |
probably damaging |
Het |
Mapkapk3 |
C |
T |
9: 107,139,621 (GRCm39) |
|
probably null |
Het |
Mvp |
A |
T |
7: 126,592,790 (GRCm39) |
Y374N |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,404,776 (GRCm39) |
S711P |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,497,986 (GRCm39) |
K189E |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
Nlrp10 |
T |
C |
7: 108,524,709 (GRCm39) |
E257G |
probably damaging |
Het |
Nptn |
T |
G |
9: 58,548,012 (GRCm39) |
M139R |
possibly damaging |
Het |
Nrk |
T |
G |
X: 137,889,544 (GRCm39) |
M1105R |
possibly damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,046 (GRCm39) |
C189* |
probably null |
Het |
Or10d4 |
T |
G |
9: 39,580,374 (GRCm39) |
V7G |
probably damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,477 (GRCm39) |
Y218* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,612,248 (GRCm39) |
T403A |
probably benign |
Het |
Pcyt1b |
A |
G |
X: 92,745,722 (GRCm39) |
E50G |
possibly damaging |
Het |
Pigg |
C |
T |
5: 108,492,190 (GRCm39) |
T892I |
probably damaging |
Het |
Ppig |
T |
G |
2: 69,566,327 (GRCm39) |
|
probably null |
Het |
Prr12 |
A |
G |
7: 44,699,429 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
G |
T |
8: 71,345,073 (GRCm39) |
A78E |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,364,095 (GRCm39) |
M436R |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,690 (GRCm39) |
M39L |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,068,556 (GRCm39) |
S3077P |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,371 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
C |
T |
1: 180,800,353 (GRCm39) |
T714I |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,193,028 (GRCm39) |
L535P |
probably damaging |
Het |
Tuba8 |
A |
C |
6: 121,197,470 (GRCm39) |
N44T |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,926,039 (GRCm39) |
|
probably benign |
Het |
Zfp654 |
A |
T |
16: 64,605,391 (GRCm39) |
I396K |
probably benign |
Het |
|
Other mutations in Spag8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Spag8
|
APN |
4 |
43,652,890 (GRCm39) |
nonsense |
probably null |
|
IGL01766:Spag8
|
APN |
4 |
43,653,209 (GRCm39) |
unclassified |
probably benign |
|
IGL02324:Spag8
|
APN |
4 |
43,651,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Spag8
|
APN |
4 |
43,651,755 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03336:Spag8
|
APN |
4 |
43,652,114 (GRCm39) |
splice site |
probably benign |
|
R1519:Spag8
|
UTSW |
4 |
43,652,777 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1799:Spag8
|
UTSW |
4 |
43,653,345 (GRCm39) |
unclassified |
probably benign |
|
R1799:Spag8
|
UTSW |
4 |
43,653,087 (GRCm39) |
unclassified |
probably benign |
|
R2212:Spag8
|
UTSW |
4 |
43,651,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R2338:Spag8
|
UTSW |
4 |
43,652,826 (GRCm39) |
missense |
probably benign |
0.06 |
R3412:Spag8
|
UTSW |
4 |
43,651,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R3413:Spag8
|
UTSW |
4 |
43,651,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R3414:Spag8
|
UTSW |
4 |
43,651,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Spag8
|
UTSW |
4 |
43,653,408 (GRCm39) |
unclassified |
probably benign |
|
R4670:Spag8
|
UTSW |
4 |
43,653,378 (GRCm39) |
unclassified |
probably benign |
|
R4745:Spag8
|
UTSW |
4 |
43,651,636 (GRCm39) |
missense |
probably damaging |
0.98 |
R4795:Spag8
|
UTSW |
4 |
43,652,035 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5409:Spag8
|
UTSW |
4 |
43,653,134 (GRCm39) |
unclassified |
probably benign |
|
R5992:Spag8
|
UTSW |
4 |
43,651,534 (GRCm39) |
missense |
probably benign |
0.06 |
R6192:Spag8
|
UTSW |
4 |
43,652,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R6333:Spag8
|
UTSW |
4 |
43,653,186 (GRCm39) |
unclassified |
probably benign |
|
R7216:Spag8
|
UTSW |
4 |
43,652,034 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8923:Spag8
|
UTSW |
4 |
43,651,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R8996:Spag8
|
UTSW |
4 |
43,651,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R9116:Spag8
|
UTSW |
4 |
43,653,231 (GRCm39) |
missense |
unknown |
|
R9705:Spag8
|
UTSW |
4 |
43,652,366 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2014-05-07 |