Incidental Mutation 'R2330:Spag6l'
| ID |
245852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag6l
|
| Ensembl Gene |
ENSMUSG00000022783 |
| Gene Name |
sperm associated antigen 6-like |
| Synonyms |
PF16, Spag6 |
| MMRRC Submission |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16570880-16647227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16646949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 19
(Q19R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023468]
|
| AlphaFold |
Q9JLI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023468
AA Change: Q19R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023468
Gene: ENSMUSG00000022783
AA Change: Q19R
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
30 |
70 |
2.26e-3 |
SMART |
|
Blast:ARM
|
72 |
112 |
3e-15 |
BLAST |
|
ARM
|
114 |
154 |
3e-8 |
SMART |
|
ARM
|
156 |
196 |
4.91e-4 |
SMART |
|
ARM
|
198 |
238 |
1.03e-6 |
SMART |
|
ARM
|
240 |
280 |
3.13e0 |
SMART |
|
ARM
|
282 |
322 |
4.82e1 |
SMART |
|
ARM
|
323 |
365 |
7.34e-3 |
SMART |
|
Blast:ARM
|
367 |
409 |
7e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154624
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| 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 expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Many homozygotes for a targeted null mutation exhibit reduced growth, hydrocephaly, and lethality by 8 weeks of age. Surviving males have sperm defects and are infertile, while females show reduced fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
| Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
| Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
Het |
|
| Other mutations in Spag6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Spag6l
|
APN |
16 |
16,598,597 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00928:Spag6l
|
APN |
16 |
16,584,877 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL00929:Spag6l
|
APN |
16 |
16,584,877 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01793:Spag6l
|
APN |
16 |
16,599,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Spag6l
|
APN |
16 |
16,581,033 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03271:Spag6l
|
APN |
16 |
16,598,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Spag6l
|
UTSW |
16 |
16,598,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0394:Spag6l
|
UTSW |
16 |
16,598,493 (GRCm39) |
missense |
probably benign |
|
|
R0720:Spag6l
|
UTSW |
16 |
16,584,960 (GRCm39) |
splice site |
probably benign |
|
|
R1205:Spag6l
|
UTSW |
16 |
16,605,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Spag6l
|
UTSW |
16 |
16,598,478 (GRCm39) |
splice site |
probably benign |
|
|
R1707:Spag6l
|
UTSW |
16 |
16,598,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1926:Spag6l
|
UTSW |
16 |
16,580,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2255:Spag6l
|
UTSW |
16 |
16,595,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3755:Spag6l
|
UTSW |
16 |
16,580,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3796:Spag6l
|
UTSW |
16 |
16,580,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Spag6l
|
UTSW |
16 |
16,646,888 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4324:Spag6l
|
UTSW |
16 |
16,605,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4725:Spag6l
|
UTSW |
16 |
16,610,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Spag6l
|
UTSW |
16 |
16,595,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Spag6l
|
UTSW |
16 |
16,599,622 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5753:Spag6l
|
UTSW |
16 |
16,584,831 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5958:Spag6l
|
UTSW |
16 |
16,580,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6107:Spag6l
|
UTSW |
16 |
16,599,652 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6894:Spag6l
|
UTSW |
16 |
16,601,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Spag6l
|
UTSW |
16 |
16,584,883 (GRCm39) |
missense |
probably benign |
|
|
R7634:Spag6l
|
UTSW |
16 |
16,595,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8240:Spag6l
|
UTSW |
16 |
16,580,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Spag6l
|
UTSW |
16 |
16,580,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9207:Spag6l
|
UTSW |
16 |
16,598,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Spag6l
|
UTSW |
16 |
16,646,981 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGCTGATGGGAGTCAGG -3'
(R):5'- CGCATACACAGAGGAACGGATC -3'
Sequencing Primer
(F):5'- CTGATGGGAGTCAGGGGATG -3'
(R):5'- CACTACCAGCTCAACGGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation