Incidental Mutation 'IGL02452:Spag5'
ID |
293689 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spag5
|
Ensembl Gene |
ENSMUSG00000002055 |
Gene Name |
sperm associated antigen 5 |
Synonyms |
s17, Astrin, Mastrin, MAP126, Deepest, D11Bhm180e, S17 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02452
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78195449 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 252
(N252S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045026]
|
AlphaFold |
Q7TME2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045026
AA Change: N252S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000045286 Gene: ENSMUSG00000002055 AA Change: N252S
Domain | Start | End | E-Value | Type |
low complexity region
|
405 |
420 |
N/A |
INTRINSIC |
low complexity region
|
477 |
493 |
N/A |
INTRINSIC |
coiled coil region
|
514 |
547 |
N/A |
INTRINSIC |
coiled coil region
|
638 |
700 |
N/A |
INTRINSIC |
coiled coil region
|
743 |
854 |
N/A |
INTRINSIC |
low complexity region
|
898 |
912 |
N/A |
INTRINSIC |
coiled coil region
|
970 |
1006 |
N/A |
INTRINSIC |
coiled coil region
|
1032 |
1068 |
N/A |
INTRINSIC |
coiled coil region
|
1104 |
1140 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146068
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with normal breeding and mating behavio; no abnormalities in male reproductive system anatomy or histology or in spermatogenesis were detectable. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
C |
A |
3: 153,647,607 (GRCm39) |
V11F |
probably damaging |
Het |
Alk |
A |
T |
17: 72,209,620 (GRCm39) |
Y941* |
probably null |
Het |
Blm |
A |
T |
7: 80,153,125 (GRCm39) |
|
probably null |
Het |
Blvrb |
T |
C |
7: 27,158,765 (GRCm39) |
V55A |
possibly damaging |
Het |
Cdh23 |
T |
A |
10: 60,153,721 (GRCm39) |
T2288S |
probably damaging |
Het |
Csnk1g1 |
T |
A |
9: 65,915,067 (GRCm39) |
M242K |
probably damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,676,827 (GRCm39) |
H173L |
probably benign |
Het |
Cyp2g1 |
T |
A |
7: 26,510,871 (GRCm39) |
S131T |
probably benign |
Het |
Dusp29 |
G |
A |
14: 21,752,990 (GRCm39) |
T52I |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,758,900 (GRCm39) |
|
probably benign |
Het |
Espl1 |
T |
C |
15: 102,208,274 (GRCm39) |
S427P |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,699,006 (GRCm39) |
D2424E |
probably benign |
Het |
Flrt2 |
G |
A |
12: 95,746,257 (GRCm39) |
M198I |
probably benign |
Het |
Gen1 |
A |
T |
12: 11,292,576 (GRCm39) |
S404R |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,806 (GRCm39) |
C105S |
unknown |
Het |
Hdlbp |
A |
T |
1: 93,345,233 (GRCm39) |
V714D |
probably damaging |
Het |
Igkv4-80 |
A |
G |
6: 68,993,816 (GRCm39) |
V25A |
probably benign |
Het |
Igkv8-27 |
C |
T |
6: 70,148,925 (GRCm39) |
W76* |
probably null |
Het |
Ikzf1 |
T |
C |
11: 11,698,545 (GRCm39) |
L132P |
probably damaging |
Het |
Kcna6 |
C |
A |
6: 126,715,443 (GRCm39) |
C482F |
possibly damaging |
Het |
Lhx9 |
A |
T |
1: 138,769,580 (GRCm39) |
L47Q |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,304,347 (GRCm39) |
D175E |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,923,815 (GRCm39) |
K451E |
probably damaging |
Het |
Mcm9 |
C |
T |
10: 53,417,653 (GRCm39) |
V17M |
probably damaging |
Het |
Mios |
T |
A |
6: 8,222,492 (GRCm39) |
S475R |
probably benign |
Het |
Mmp24 |
C |
T |
2: 155,657,708 (GRCm39) |
R533C |
probably damaging |
Het |
Moxd1 |
C |
T |
10: 24,158,650 (GRCm39) |
P435S |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,927,670 (GRCm39) |
I497N |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,014,473 (GRCm39) |
V422A |
probably benign |
Het |
Ndufaf1 |
A |
T |
2: 119,486,907 (GRCm39) |
F260Y |
probably damaging |
Het |
Nfasc |
C |
T |
1: 132,548,662 (GRCm39) |
|
probably null |
Het |
Nid1 |
A |
T |
13: 13,683,305 (GRCm39) |
T1128S |
probably benign |
Het |
Odad2 |
C |
T |
18: 7,129,461 (GRCm39) |
E906K |
probably damaging |
Het |
Or51f1d |
A |
G |
7: 102,701,138 (GRCm39) |
D211G |
probably benign |
Het |
Pcdh12 |
G |
A |
18: 38,414,746 (GRCm39) |
P793L |
probably benign |
Het |
Pclo |
A |
T |
5: 14,726,980 (GRCm39) |
|
probably benign |
Het |
Prpf31 |
T |
A |
7: 3,637,185 (GRCm39) |
N161K |
possibly damaging |
Het |
Prpf6 |
T |
G |
2: 181,290,878 (GRCm39) |
N656K |
probably benign |
Het |
Ptprn |
T |
A |
1: 75,234,813 (GRCm39) |
H258L |
probably benign |
Het |
Rab19 |
A |
G |
6: 39,366,732 (GRCm39) |
T216A |
probably benign |
Het |
Ryr3 |
A |
C |
2: 112,664,335 (GRCm39) |
L1652W |
probably damaging |
Het |
Six2 |
A |
C |
17: 85,992,806 (GRCm39) |
S232R |
possibly damaging |
Het |
Spag17 |
T |
C |
3: 99,934,707 (GRCm39) |
V663A |
probably benign |
Het |
Spata31e4 |
A |
T |
13: 50,857,113 (GRCm39) |
H917L |
probably damaging |
Het |
Sptb |
C |
T |
12: 76,655,810 (GRCm39) |
|
probably null |
Het |
Synj1 |
A |
G |
16: 90,758,253 (GRCm39) |
|
probably benign |
Het |
Tekt2 |
T |
C |
4: 126,218,645 (GRCm39) |
H36R |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 64,962,403 (GRCm39) |
M1258K |
probably damaging |
Het |
Txnrd3 |
T |
C |
6: 89,651,777 (GRCm39) |
*502Q |
probably null |
Het |
|
Other mutations in Spag5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01380:Spag5
|
APN |
11 |
78,195,443 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01820:Spag5
|
APN |
11 |
78,195,085 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02066:Spag5
|
APN |
11 |
78,195,358 (GRCm39) |
missense |
probably benign |
|
IGL02140:Spag5
|
APN |
11 |
78,206,459 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02251:Spag5
|
APN |
11 |
78,210,860 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02658:Spag5
|
APN |
11 |
78,212,157 (GRCm39) |
nonsense |
probably null |
|
boyardee
|
UTSW |
11 |
78,204,017 (GRCm39) |
critical splice donor site |
probably null |
|
Franco
|
UTSW |
11 |
78,205,008 (GRCm39) |
nonsense |
probably null |
|
spaghetto
|
UTSW |
11 |
78,204,205 (GRCm39) |
nonsense |
probably null |
|
IGL02991:Spag5
|
UTSW |
11 |
78,205,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R0477:Spag5
|
UTSW |
11 |
78,205,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R0512:Spag5
|
UTSW |
11 |
78,210,412 (GRCm39) |
unclassified |
probably benign |
|
R0535:Spag5
|
UTSW |
11 |
78,195,554 (GRCm39) |
missense |
probably benign |
0.00 |
R0557:Spag5
|
UTSW |
11 |
78,205,037 (GRCm39) |
missense |
probably damaging |
0.99 |
R0584:Spag5
|
UTSW |
11 |
78,194,921 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0666:Spag5
|
UTSW |
11 |
78,204,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R0723:Spag5
|
UTSW |
11 |
78,210,410 (GRCm39) |
unclassified |
probably benign |
|
R1413:Spag5
|
UTSW |
11 |
78,196,143 (GRCm39) |
nonsense |
probably null |
|
R1680:Spag5
|
UTSW |
11 |
78,211,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Spag5
|
UTSW |
11 |
78,195,755 (GRCm39) |
missense |
probably benign |
0.32 |
R1696:Spag5
|
UTSW |
11 |
78,212,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:Spag5
|
UTSW |
11 |
78,205,082 (GRCm39) |
missense |
probably benign |
0.08 |
R1866:Spag5
|
UTSW |
11 |
78,195,281 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1918:Spag5
|
UTSW |
11 |
78,195,002 (GRCm39) |
missense |
probably benign |
0.01 |
R4004:Spag5
|
UTSW |
11 |
78,212,355 (GRCm39) |
missense |
probably benign |
0.22 |
R4005:Spag5
|
UTSW |
11 |
78,212,355 (GRCm39) |
missense |
probably benign |
0.22 |
R4222:Spag5
|
UTSW |
11 |
78,195,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Spag5
|
UTSW |
11 |
78,210,878 (GRCm39) |
missense |
probably benign |
0.00 |
R4771:Spag5
|
UTSW |
11 |
78,195,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Spag5
|
UTSW |
11 |
78,205,199 (GRCm39) |
missense |
probably damaging |
0.97 |
R5360:Spag5
|
UTSW |
11 |
78,205,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R5366:Spag5
|
UTSW |
11 |
78,211,152 (GRCm39) |
splice site |
probably null |
|
R5618:Spag5
|
UTSW |
11 |
78,194,906 (GRCm39) |
missense |
probably benign |
0.00 |
R5668:Spag5
|
UTSW |
11 |
78,195,542 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5762:Spag5
|
UTSW |
11 |
78,194,972 (GRCm39) |
missense |
probably benign |
0.25 |
R5859:Spag5
|
UTSW |
11 |
78,204,360 (GRCm39) |
missense |
probably benign |
0.38 |
R6564:Spag5
|
UTSW |
11 |
78,206,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6571:Spag5
|
UTSW |
11 |
78,212,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Spag5
|
UTSW |
11 |
78,205,008 (GRCm39) |
nonsense |
probably null |
|
R7074:Spag5
|
UTSW |
11 |
78,195,868 (GRCm39) |
critical splice donor site |
probably null |
|
R7091:Spag5
|
UTSW |
11 |
78,204,017 (GRCm39) |
critical splice donor site |
probably null |
|
R7332:Spag5
|
UTSW |
11 |
78,204,205 (GRCm39) |
nonsense |
probably null |
|
R8073:Spag5
|
UTSW |
11 |
78,192,803 (GRCm39) |
missense |
probably benign |
0.22 |
R8709:Spag5
|
UTSW |
11 |
78,192,738 (GRCm39) |
missense |
probably benign |
|
R8723:Spag5
|
UTSW |
11 |
78,212,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R8976:Spag5
|
UTSW |
11 |
78,195,413 (GRCm39) |
missense |
probably benign |
0.01 |
R9053:Spag5
|
UTSW |
11 |
78,212,575 (GRCm39) |
missense |
probably benign |
0.14 |
R9142:Spag5
|
UTSW |
11 |
78,192,823 (GRCm39) |
missense |
possibly damaging |
0.56 |
Z1176:Spag5
|
UTSW |
11 |
78,205,808 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Posted On |
2015-04-16 |