Incidental Mutation 'R8723:Spag5'
| ID |
662234 |
| 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 |
068615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78212215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1081
(I1081N)
|
| 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: I1081N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: I1081N
| 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 |
|
| Meta Mutation Damage Score |
0.1094 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,897 (GRCm39) |
H465Q |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,324,513 (GRCm39) |
H647R |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,582,282 (GRCm39) |
R285S |
probably benign |
Het |
| Alkbh1 |
A |
G |
12: 87,485,278 (GRCm39) |
V115A |
probably benign |
Het |
| Ankrd50 |
A |
C |
3: 38,511,453 (GRCm39) |
F305V |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,686 (GRCm39) |
S414P |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,986,206 (GRCm39) |
I282V |
probably benign |
Het |
| Aoah |
T |
G |
13: 21,184,180 (GRCm39) |
Y415D |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,548,510 (GRCm39) |
V1188A |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,462,907 (GRCm39) |
I1651T |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
G |
A |
2: 84,450,384 (GRCm39) |
P279S |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,891,685 (GRCm39) |
E3298V |
probably damaging |
Het |
| Ear14 |
C |
T |
14: 51,441,513 (GRCm39) |
T123I |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,185,385 (GRCm39) |
L43P |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,397,092 (GRCm39) |
|
probably benign |
Het |
| Figla |
A |
G |
6: 85,997,724 (GRCm39) |
T151A |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,647,001 (GRCm39) |
E56G |
unknown |
Het |
| Gm49359 |
A |
T |
13: 62,602,410 (GRCm39) |
H263Q |
probably damaging |
Het |
| Gprc6a |
A |
T |
10: 51,491,518 (GRCm39) |
C744S |
probably damaging |
Het |
| Grhl1 |
G |
A |
12: 24,662,244 (GRCm39) |
|
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Itih3 |
T |
A |
14: 30,630,761 (GRCm39) |
Q850L |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,575,591 (GRCm39) |
V285A |
probably damaging |
Het |
| Klc4 |
T |
G |
17: 46,951,626 (GRCm39) |
E165A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,316,648 (GRCm39) |
Y2111C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,887,342 (GRCm39) |
E3057G |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,910 (GRCm39) |
Q4006* |
probably null |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,055 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,272,407 (GRCm39) |
F1466S |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,553 (GRCm39) |
D668G |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,583,501 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k3 |
A |
T |
2: 86,058,786 (GRCm39) |
H176Q |
probably damaging |
Het |
| P2rx1 |
C |
A |
11: 72,899,756 (GRCm39) |
N120K |
probably benign |
Het |
| Pif1 |
T |
A |
9: 65,501,673 (GRCm39) |
M569K |
probably damaging |
Het |
| Prkd2 |
G |
A |
7: 16,591,702 (GRCm39) |
V578I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,101 (GRCm39) |
Y284C |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,410,757 (GRCm39) |
T164A |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,802 (GRCm39) |
T559A |
probably benign |
Het |
| Sag |
G |
A |
1: 87,751,175 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
G |
A |
12: 81,182,586 (GRCm39) |
V138I |
possibly damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,666 (GRCm39) |
I203T |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,941,863 (GRCm39) |
V611E |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,856,911 (GRCm39) |
D54V |
probably damaging |
Het |
| Tacr2 |
A |
G |
10: 62,094,107 (GRCm39) |
D188G |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,145,731 (GRCm39) |
Y358N |
probably damaging |
Het |
| Trim27 |
A |
C |
13: 21,374,807 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,698,149 (GRCm39) |
E139G |
probably benign |
Het |
| Ttc39a |
T |
A |
4: 109,300,700 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,671,899 (GRCm39) |
I781N |
probably damaging |
Het |
| Uqcc1 |
C |
T |
2: 155,729,100 (GRCm39) |
W21* |
probably null |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,343 (GRCm39) |
W355R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,910 (GRCm39) |
V420A |
probably benign |
Het |
| Zdhhc21 |
A |
T |
4: 82,762,439 (GRCm39) |
I52K |
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 |
|
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 |
|
|
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'- GAACCTCTGAGTACTGTTGGG -3'
(R):5'- GCTTCTGTGGTGGAAGGAAAC -3'
Sequencing Primer
(F):5'- AACCTCTGAGTACTGTTGGGTTATC -3'
(R):5'- AGAACTGCTTACATGGCTCAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation