Incidental Mutation 'IGL02140:Spag5'
| ID |
281499 |
| 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 # |
IGL02140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78206459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 817
(D817V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045026]
|
| AlphaFold |
Q7TME2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045026
AA Change: D817V
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: D817V
| 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: ENSMUST00000125477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150016
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,195,034 (GRCm39) |
V144I |
probably benign |
Het |
| B3gat1 |
A |
G |
9: 26,669,043 (GRCm39) |
K325E |
possibly damaging |
Het |
| Cd36 |
T |
A |
5: 18,033,766 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
A |
G |
8: 105,782,263 (GRCm39) |
E325G |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,639 (GRCm39) |
G136D |
unknown |
Het |
| Cyp3a25 |
T |
G |
5: 145,946,273 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,039,690 (GRCm39) |
L321P |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,095,391 (GRCm39) |
S34P |
probably damaging |
Het |
| Defa27 |
A |
T |
8: 21,805,674 (GRCm39) |
K13* |
probably null |
Het |
| Disp2 |
T |
C |
2: 118,621,350 (GRCm39) |
F694S |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,437,732 (GRCm39) |
A454S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,147,791 (GRCm39) |
D946E |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,791,379 (GRCm39) |
E880G |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,308,992 (GRCm39) |
V371A |
probably benign |
Het |
| Frem3 |
G |
T |
8: 81,340,736 (GRCm39) |
V1010F |
possibly damaging |
Het |
| Gm13283 |
G |
A |
4: 88,679,272 (GRCm39) |
V88I |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,945 (GRCm39) |
V260I |
probably benign |
Het |
| Grhl2 |
A |
G |
15: 37,270,830 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,820,920 (GRCm39) |
W1090R |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,293,570 (GRCm39) |
V3506I |
probably benign |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Iglv3 |
T |
A |
16: 19,060,160 (GRCm39) |
Q56L |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,079,831 (GRCm39) |
M436K |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,359,113 (GRCm39) |
K1110N |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,959,776 (GRCm39) |
E694G |
probably damaging |
Het |
| Nup37 |
A |
C |
10: 87,994,791 (GRCm39) |
K118T |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,366,481 (GRCm39) |
M1T |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,420,586 (GRCm39) |
E291G |
probably damaging |
Het |
| P3h1 |
A |
G |
4: 119,095,062 (GRCm39) |
D273G |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,311,843 (GRCm39) |
D178G |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,406,660 (GRCm39) |
K53R |
probably damaging |
Het |
| Pkp3 |
T |
G |
7: 140,669,249 (GRCm39) |
L697R |
probably damaging |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,866 (GRCm39) |
V429A |
probably benign |
Het |
| Rgl2 |
A |
G |
17: 34,152,098 (GRCm39) |
N295S |
probably damaging |
Het |
| Tas2r117 |
C |
A |
6: 132,780,558 (GRCm39) |
T232K |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
| Timd4 |
T |
A |
11: 46,710,841 (GRCm39) |
S248T |
possibly damaging |
Het |
| Tmem207 |
A |
T |
16: 26,335,490 (GRCm39) |
N82K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,538,557 (GRCm39) |
T34714S |
possibly damaging |
Het |
| Vmn1r194 |
G |
A |
13: 22,428,706 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,757,631 (GRCm39) |
S166R |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,696 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,505 (GRCm39) |
Q739L |
probably benign |
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 |
|
|
IGL02251:Spag5
|
APN |
11 |
78,210,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Spag5
|
APN |
11 |
78,195,449 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
Incidental Mutation