Incidental Mutation 'R5366:Spag5'
| ID |
429357 |
| 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 |
042944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78192412-78213283 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 78211152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017534]
[ENSMUST00000045026]
[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 null
Transcript: ENSMUST00000045026
|
| SMART Domains |
Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
| 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 null
Transcript: ENSMUST00000045026
|
| SMART Domains |
Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
| 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: ENSMUST00000149711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150016
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (77/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,831,665 (GRCm39) |
N1229S |
possibly damaging |
Het |
| Adgre1 |
G |
A |
17: 57,709,817 (GRCm39) |
C158Y |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,994,099 (GRCm39) |
S5128T |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,542,841 (GRCm39) |
C322* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,207,946 (GRCm39) |
T113S |
possibly damaging |
Het |
| Apeh |
A |
T |
9: 107,969,005 (GRCm39) |
S321T |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,179,948 (GRCm39) |
V273D |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,251,279 (GRCm39) |
D489G |
probably damaging |
Het |
| Cd47 |
T |
C |
16: 49,716,736 (GRCm39) |
F256L |
probably damaging |
Het |
| Cd84 |
A |
T |
1: 171,700,872 (GRCm39) |
D211V |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,230,802 (GRCm39) |
L942P |
probably damaging |
Het |
| Cfh |
A |
C |
1: 140,063,973 (GRCm39) |
C434W |
probably damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,518 (GRCm39) |
D276G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
| Degs1 |
C |
A |
1: 182,106,927 (GRCm39) |
D111Y |
probably benign |
Het |
| Dhps |
T |
A |
8: 85,801,413 (GRCm39) |
D313E |
probably damaging |
Het |
| Dipk1c |
T |
A |
18: 84,748,720 (GRCm39) |
L106Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,815,615 (GRCm39) |
C1645R |
probably damaging |
Het |
| Efcab7 |
A |
C |
4: 99,761,931 (GRCm39) |
D407A |
possibly damaging |
Het |
| Eif3a |
G |
T |
19: 60,767,971 (GRCm39) |
T189N |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,500,301 (GRCm39) |
L57M |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,867,513 (GRCm39) |
I300L |
probably benign |
Het |
| Fzd8 |
T |
C |
18: 9,213,880 (GRCm39) |
S321P |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,941,713 (GRCm39) |
M657K |
possibly damaging |
Het |
| Gm9920 |
T |
A |
15: 54,975,705 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,697,739 (GRCm39) |
I668T |
probably damaging |
Het |
| Irgc |
C |
T |
7: 24,132,851 (GRCm39) |
|
probably benign |
Het |
| Jsrp1 |
G |
T |
10: 80,646,030 (GRCm39) |
S143* |
probably null |
Het |
| Kctd4 |
T |
C |
14: 76,200,259 (GRCm39) |
Y77H |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,329,924 (GRCm39) |
I351N |
probably damaging |
Het |
| Klra17 |
C |
T |
6: 129,851,858 (GRCm39) |
E5K |
possibly damaging |
Het |
| Mapk8 |
A |
T |
14: 33,112,686 (GRCm39) |
V211E |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,326,725 (GRCm39) |
Y1208H |
probably benign |
Het |
| Mrps16 |
A |
T |
14: 20,441,523 (GRCm39) |
S94T |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,361,287 (GRCm39) |
T1533A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,651,518 (GRCm39) |
D287V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,086 (GRCm39) |
T2476A |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,708 (GRCm39) |
T356S |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,823 (GRCm39) |
Y35C |
possibly damaging |
Het |
| P2rx2 |
T |
A |
5: 110,489,694 (GRCm39) |
N108I |
probably damaging |
Het |
| Pbx4 |
A |
T |
8: 70,322,820 (GRCm39) |
T309S |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,704,295 (GRCm39) |
H171Q |
probably benign |
Het |
| Pou4f3 |
A |
G |
18: 42,528,819 (GRCm39) |
E254G |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,052,899 (GRCm39) |
H845Q |
probably damaging |
Het |
| Rgcc |
T |
C |
14: 79,529,123 (GRCm39) |
T111A |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
C |
A |
5: 113,398,905 (GRCm39) |
E722D |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,272,181 (GRCm39) |
D101E |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,068,273 (GRCm39) |
E140D |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,678 (GRCm39) |
S1537T |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
G |
T |
14: 101,845,412 (GRCm39) |
T162K |
possibly damaging |
Het |
| Tmem163 |
A |
C |
1: 127,428,042 (GRCm39) |
|
probably benign |
Het |
| Tmem43 |
T |
C |
6: 91,455,240 (GRCm39) |
V72A |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,429,993 (GRCm39) |
T24I |
possibly damaging |
Het |
| Trerf1 |
A |
T |
17: 47,626,116 (GRCm39) |
|
noncoding transcript |
Het |
| Trim44 |
A |
G |
2: 102,230,476 (GRCm39) |
L185P |
probably damaging |
Het |
| Tspyl1 |
A |
G |
10: 34,158,341 (GRCm39) |
D22G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tyro3 |
G |
A |
2: 119,635,312 (GRCm39) |
R201Q |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,930,741 (GRCm39) |
K206N |
probably benign |
Het |
| Usp17lb |
G |
T |
7: 104,489,615 (GRCm39) |
H436Q |
possibly damaging |
Het |
| Vps9d1 |
A |
G |
8: 123,971,853 (GRCm39) |
I584T |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,022,078 (GRCm39) |
M131K |
possibly damaging |
Het |
| Wdr87-ps |
A |
C |
7: 29,232,964 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp827 |
A |
T |
8: 79,912,333 (GRCm39) |
K986N |
possibly damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,419 (GRCm39) |
M821T |
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 |
|
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'- CAGTCAGAAGTGCTTTGCTC -3'
(R):5'- CAGGAGAATCTGGCATCATTCTC -3'
Sequencing Primer
(F):5'- CAGAAGTGCTTTGCTCTAAAAACCTC -3'
(R):5'- GAGAATCTGGCATCATTCTCATGCTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation