Incidental Mutation 'R6571:Spag5'
ID |
526242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag5
|
Ensembl Gene |
ENSMUSG00000002055 |
Gene Name |
sperm associated antigen 5 |
Synonyms |
s17, Astrin, Mastrin, MAP126, Deepest, D11Bhm180e, S17 |
MMRRC Submission |
044695-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6571 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 78212095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 1041
(R1041I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017534]
[ENSMUST00000045026]
[ENSMUST00000102478]
|
AlphaFold |
Q7TME2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017534
|
SMART Domains |
Protein: ENSMUSP00000017534 Gene: ENSMUSG00000017390
Domain | Start | End | E-Value | Type |
Pfam:Glycolytic
|
15 |
363 |
2.6e-185 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045026
AA Change: R1041I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045286 Gene: ENSMUSG00000002055 AA Change: R1041I
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 |
probably benign
Transcript: ENSMUST00000102478
|
SMART Domains |
Protein: ENSMUSP00000099536 Gene: ENSMUSG00000017390
Domain | Start | End | E-Value | Type |
Pfam:Glycolytic
|
15 |
363 |
5.5e-179 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149711
|
Meta Mutation Damage Score |
0.1573 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
94% (31/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,216,390 (GRCm39) |
I161V |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,065,187 (GRCm39) |
F24S |
probably benign |
Het |
Bche |
G |
T |
3: 73,608,824 (GRCm39) |
Q201K |
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,829,512 (GRCm39) |
D757E |
possibly damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dab2ip |
T |
C |
2: 35,602,902 (GRCm39) |
S399P |
probably damaging |
Het |
Fbxo40 |
A |
T |
16: 36,789,668 (GRCm39) |
C481S |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,665,349 (GRCm39) |
T923S |
probably damaging |
Het |
Gm11437 |
T |
C |
11: 84,047,038 (GRCm39) |
D147G |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,937,999 (GRCm39) |
E427G |
probably damaging |
Het |
Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
Inpp4a |
T |
C |
1: 37,426,839 (GRCm39) |
M600T |
probably damaging |
Het |
Itgb6 |
T |
C |
2: 60,458,800 (GRCm39) |
E374G |
probably damaging |
Het |
Lrba |
A |
C |
3: 86,267,367 (GRCm39) |
S1686R |
probably damaging |
Het |
Map3k4 |
T |
C |
17: 12,461,579 (GRCm39) |
D1200G |
possibly damaging |
Het |
Mmp25 |
T |
C |
17: 23,858,870 (GRCm39) |
H227R |
probably benign |
Het |
Or6c38 |
A |
C |
10: 128,928,990 (GRCm39) |
N284K |
probably damaging |
Het |
Papss2 |
G |
A |
19: 32,629,342 (GRCm39) |
|
probably null |
Het |
Rasal2 |
T |
A |
1: 156,988,749 (GRCm39) |
R718S |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,620,707 (GRCm39) |
D394G |
probably benign |
Het |
Rngtt |
T |
A |
4: 33,379,413 (GRCm39) |
D438E |
probably damaging |
Het |
S1pr1 |
A |
G |
3: 115,505,452 (GRCm39) |
S381P |
possibly damaging |
Het |
Septin8 |
A |
G |
11: 53,427,990 (GRCm39) |
E268G |
probably damaging |
Het |
Slc6a21 |
A |
G |
7: 44,930,303 (GRCm39) |
K234R |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,783,737 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,433,752 (GRCm39) |
|
probably benign |
Het |
Spata31d1b |
A |
T |
13: 59,865,269 (GRCm39) |
M806L |
probably benign |
Het |
Tnfrsf18 |
T |
A |
4: 156,112,776 (GRCm39) |
L154* |
probably null |
Het |
Trib2 |
T |
C |
12: 15,844,060 (GRCm39) |
E194G |
probably damaging |
Het |
Vmn2r33 |
A |
G |
7: 7,566,668 (GRCm39) |
V148A |
probably benign |
Het |
Wiz |
G |
A |
17: 32,578,298 (GRCm39) |
R405W |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,984,310 (GRCm39) |
|
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 |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGGGCAAATAGACAAG -3'
(R):5'- ATGTCCACGTTAATAGGGGC -3'
Sequencing Primer
(F):5'- GCAAATAGACAAGAGCGGCC -3'
(R):5'- TGTCCACGTTAATAGGGGCATAGC -3'
|
Posted On |
2018-06-22 |