Incidental Mutation 'R4222:Spag5'
ID |
319413 |
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 |
041042-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78195337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 215
(V215I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045026]
|
AlphaFold |
Q7TME2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045026
AA Change: V215I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045286 Gene: ENSMUSG00000002055 AA Change: V215I
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
|
Meta Mutation Damage Score |
0.0723 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
91% (49/54) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
A |
G |
17: 56,092,121 (GRCm39) |
Y127C |
probably damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Alkal1 |
A |
G |
1: 6,458,839 (GRCm39) |
K76R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,391,969 (GRCm39) |
S1807G |
probably benign |
Het |
Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
Brd10 |
A |
T |
19: 29,696,149 (GRCm39) |
S1115T |
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,797,276 (GRCm39) |
Y368N |
probably damaging |
Het |
Gar1 |
A |
T |
3: 129,624,455 (GRCm39) |
|
probably benign |
Het |
Gm5265 |
A |
T |
1: 169,281,370 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
H1f5 |
A |
T |
13: 21,964,147 (GRCm39) |
|
probably benign |
Het |
Hapln4 |
T |
A |
8: 70,539,610 (GRCm39) |
W214R |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,372,010 (GRCm39) |
Y200C |
probably damaging |
Het |
Irgq |
C |
A |
7: 24,233,050 (GRCm39) |
A297D |
possibly damaging |
Het |
Kri1 |
T |
C |
9: 21,192,359 (GRCm39) |
E145G |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Mrpl22 |
T |
A |
11: 58,062,693 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
A |
7: 97,722,436 (GRCm39) |
Q1163L |
possibly damaging |
Het |
Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
Nrxn3 |
G |
T |
12: 89,499,762 (GRCm39) |
G718* |
probably null |
Het |
Olfm3 |
C |
T |
3: 114,883,820 (GRCm39) |
Q41* |
probably null |
Het |
Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
Or8u8 |
G |
T |
2: 86,012,341 (GRCm39) |
T38K |
probably damaging |
Het |
Parm1 |
G |
A |
5: 91,741,726 (GRCm39) |
M31I |
probably benign |
Het |
Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
Pkn2 |
A |
T |
3: 142,499,627 (GRCm39) |
L950* |
probably null |
Het |
Plec |
C |
T |
15: 76,061,519 (GRCm39) |
R2671H |
probably damaging |
Het |
Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,885,389 (GRCm39) |
M679K |
probably benign |
Het |
Ptx3 |
C |
T |
3: 66,132,127 (GRCm39) |
T216I |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,383,229 (GRCm39) |
I346V |
possibly damaging |
Het |
Rsrc1 |
A |
G |
3: 66,901,900 (GRCm39) |
K17E |
unknown |
Het |
Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
Semp2l2a |
T |
C |
8: 13,888,061 (GRCm39) |
E10G |
probably benign |
Het |
Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,944,199 (GRCm39) |
Y535C |
probably damaging |
Het |
Tbc1d14 |
A |
T |
5: 36,650,452 (GRCm39) |
S395T |
probably benign |
Het |
Tlr11 |
C |
T |
14: 50,599,306 (GRCm39) |
P431S |
probably damaging |
Het |
Trerf1 |
G |
T |
17: 47,625,727 (GRCm39) |
|
noncoding transcript |
Het |
Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
Vmn1r49 |
A |
G |
6: 90,049,228 (GRCm39) |
F258S |
probably benign |
Het |
Vmn1r-ps103 |
C |
A |
13: 22,626,198 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
Zbtb5 |
A |
G |
4: 44,993,855 (GRCm39) |
|
probably null |
Het |
Zfp35 |
T |
G |
18: 24,136,246 (GRCm39) |
F197V |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCACTTAGATACCACAGCAG -3'
(R):5'- GAGACGGCTTCTGCATTTGC -3'
Sequencing Primer
(F):5'- TTAGATACCACAGCAGAGAGAAC -3'
(R):5'- GCAGGTGCTTGGTCTCC -3'
|
Posted On |
2015-06-10 |