Incidental Mutation 'R5366:Spag5'
| ID |
429357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag5
|
| Ensembl Gene |
ENSMUSG00000002055 |
| Gene Name |
sperm associated antigen 5 |
| Synonyms |
D11Bhm180e, Astrin, MAP126, Deepest, Mastrin, S17, 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 |
78301529-78322457 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 78320326 bp (GRCm38)
|
| 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: ENSMUST00000148689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149711
|
| 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: 118,867,930 (GRCm38) |
N1229S |
possibly damaging |
Het |
| Adgre1 |
G |
A |
17: 57,402,817 (GRCm38) |
C158Y |
probably benign |
Het |
| Ahnak |
T |
A |
19: 9,016,735 (GRCm38) |
S5128T |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,592,841 (GRCm38) |
C322* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,654,209 (GRCm38) |
T113S |
possibly damaging |
Het |
| Apeh |
A |
T |
9: 108,091,806 (GRCm38) |
S321T |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,268,652 (GRCm38) |
V273D |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,274,318 (GRCm38) |
D489G |
probably damaging |
Het |
| Cd47 |
T |
C |
16: 49,896,373 (GRCm38) |
F256L |
probably damaging |
Het |
| Cd84 |
A |
T |
1: 171,873,305 (GRCm38) |
D211V |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,650,886 (GRCm38) |
L942P |
probably damaging |
Het |
| Cfh |
A |
C |
1: 140,136,235 (GRCm38) |
C434W |
probably damaging |
Het |
| Chst2 |
T |
C |
9: 95,405,465 (GRCm38) |
D276G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,037,099 (GRCm38) |
T258A |
probably benign |
Het |
| Degs1 |
C |
A |
1: 182,279,362 (GRCm38) |
D111Y |
probably benign |
Het |
| Dhps |
T |
A |
8: 85,074,784 (GRCm38) |
D313E |
probably damaging |
Het |
| Dipk1c |
T |
A |
18: 84,730,595 (GRCm38) |
L106Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,578,203 (GRCm38) |
C1645R |
probably damaging |
Het |
| Efcab7 |
A |
C |
4: 99,904,734 (GRCm38) |
D407A |
possibly damaging |
Het |
| Eif3a |
G |
T |
19: 60,779,533 (GRCm38) |
T189N |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,616,100 (GRCm38) |
L57M |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,890,531 (GRCm38) |
I300L |
probably benign |
Het |
| Fzd8 |
T |
C |
18: 9,213,880 (GRCm38) |
S321P |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 34,242,288 (GRCm38) |
M657K |
possibly damaging |
Het |
| Gm9920 |
T |
A |
15: 55,112,309 (GRCm38) |
|
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,720,741 (GRCm38) |
I668T |
probably damaging |
Het |
| Irgc |
C |
T |
7: 24,433,426 (GRCm38) |
|
probably benign |
Het |
| Jsrp1 |
G |
T |
10: 80,810,196 (GRCm38) |
S143* |
probably null |
Het |
| Kctd4 |
T |
C |
14: 75,962,819 (GRCm38) |
Y77H |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,283,150 (GRCm38) |
I351N |
probably damaging |
Het |
| Klra17 |
C |
T |
6: 129,874,895 (GRCm38) |
E5K |
possibly damaging |
Het |
| Mapk8 |
A |
T |
14: 33,390,729 (GRCm38) |
V211E |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm38) |
P2542L |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,321,914 (GRCm38) |
Y1208H |
probably benign |
Het |
| Mrps16 |
A |
T |
14: 20,391,455 (GRCm38) |
S94T |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,807,550 (GRCm38) |
T1533A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,760,692 (GRCm38) |
D287V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,080,260 (GRCm38) |
T2476A |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,668,412 (GRCm38) |
T356S |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 112,072,478 (GRCm38) |
Y35C |
possibly damaging |
Het |
| P2rx2 |
T |
A |
5: 110,341,828 (GRCm38) |
N108I |
probably damaging |
Het |
| Pbx4 |
A |
T |
8: 69,870,170 (GRCm38) |
T309S |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,466,855 (GRCm38) |
H171Q |
probably benign |
Het |
| Pou4f3 |
A |
G |
18: 42,395,754 (GRCm38) |
E254G |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,002,900 (GRCm38) |
H845Q |
probably damaging |
Het |
| Rgcc |
T |
C |
14: 79,291,683 (GRCm38) |
T111A |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,843,713 (GRCm38) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,759,662 (GRCm38) |
|
probably null |
Het |
| Sgsm1 |
C |
A |
5: 113,251,039 (GRCm38) |
E722D |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,444,611 (GRCm38) |
D101E |
probably benign |
Het |
| Spata31 |
A |
T |
13: 64,920,459 (GRCm38) |
E140D |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 23,818,704 (GRCm38) |
S1537T |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,736,293 (GRCm38) |
|
probably benign |
Het |
| Tbc1d4 |
G |
T |
14: 101,607,976 (GRCm38) |
T162K |
possibly damaging |
Het |
| Tmem163 |
A |
C |
1: 127,500,305 (GRCm38) |
|
probably benign |
Het |
| Tmem43 |
T |
C |
6: 91,478,258 (GRCm38) |
V72A |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,282,134 (GRCm38) |
T24I |
possibly damaging |
Het |
| Trerf1 |
A |
T |
17: 47,315,190 (GRCm38) |
|
noncoding transcript |
Het |
| Trim44 |
A |
G |
2: 102,400,131 (GRCm38) |
L185P |
probably damaging |
Het |
| Tspyl1 |
A |
G |
10: 34,282,345 (GRCm38) |
D22G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Tyro3 |
G |
A |
2: 119,804,831 (GRCm38) |
R201Q |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,880,741 (GRCm38) |
K206N |
probably benign |
Het |
| Usp17lb |
G |
T |
7: 104,840,408 (GRCm38) |
H436Q |
possibly damaging |
Het |
| Vps9d1 |
A |
G |
8: 123,245,114 (GRCm38) |
I584T |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,055,819 (GRCm38) |
M131K |
possibly damaging |
Het |
| Wdr87-ps |
A |
C |
7: 29,533,539 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp827 |
A |
T |
8: 79,185,704 (GRCm38) |
K986N |
possibly damaging |
Het |
| Zswim4 |
A |
G |
8: 84,212,790 (GRCm38) |
M821T |
probably benign |
Het |
|
| Other mutations in Spag5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Spag5
|
APN |
11 |
78,304,617 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL01820:Spag5
|
APN |
11 |
78,304,259 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02066:Spag5
|
APN |
11 |
78,304,532 (GRCm38) |
missense |
probably benign |
|
|
IGL02140:Spag5
|
APN |
11 |
78,315,633 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL02251:Spag5
|
APN |
11 |
78,320,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02452:Spag5
|
APN |
11 |
78,304,623 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02658:Spag5
|
APN |
11 |
78,321,331 (GRCm38) |
nonsense |
probably null |
|
|
boyardee
|
UTSW |
11 |
78,313,191 (GRCm38) |
critical splice donor site |
probably null |
|
|
Franco
|
UTSW |
11 |
78,314,182 (GRCm38) |
nonsense |
probably null |
|
|
spaghetto
|
UTSW |
11 |
78,313,379 (GRCm38) |
nonsense |
probably null |
|
|
IGL02991:Spag5
|
UTSW |
11 |
78,314,251 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0477:Spag5
|
UTSW |
11 |
78,314,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0512:Spag5
|
UTSW |
11 |
78,319,586 (GRCm38) |
unclassified |
probably benign |
|
|
R0535:Spag5
|
UTSW |
11 |
78,304,728 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0557:Spag5
|
UTSW |
11 |
78,314,211 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0584:Spag5
|
UTSW |
11 |
78,304,095 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0666:Spag5
|
UTSW |
11 |
78,313,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Spag5
|
UTSW |
11 |
78,319,584 (GRCm38) |
unclassified |
probably benign |
|
|
R1413:Spag5
|
UTSW |
11 |
78,305,317 (GRCm38) |
nonsense |
probably null |
|
|
R1680:Spag5
|
UTSW |
11 |
78,320,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1687:Spag5
|
UTSW |
11 |
78,304,929 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1696:Spag5
|
UTSW |
11 |
78,321,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1831:Spag5
|
UTSW |
11 |
78,314,256 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1866:Spag5
|
UTSW |
11 |
78,304,455 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1918:Spag5
|
UTSW |
11 |
78,304,176 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4004:Spag5
|
UTSW |
11 |
78,321,529 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4005:Spag5
|
UTSW |
11 |
78,321,529 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4222:Spag5
|
UTSW |
11 |
78,304,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4750:Spag5
|
UTSW |
11 |
78,320,052 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4771:Spag5
|
UTSW |
11 |
78,304,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4928:Spag5
|
UTSW |
11 |
78,314,373 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5360:Spag5
|
UTSW |
11 |
78,314,762 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5618:Spag5
|
UTSW |
11 |
78,304,080 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5668:Spag5
|
UTSW |
11 |
78,304,716 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5762:Spag5
|
UTSW |
11 |
78,304,146 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5859:Spag5
|
UTSW |
11 |
78,313,534 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6564:Spag5
|
UTSW |
11 |
78,315,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6571:Spag5
|
UTSW |
11 |
78,321,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6573:Spag5
|
UTSW |
11 |
78,314,182 (GRCm38) |
nonsense |
probably null |
|
|
R7074:Spag5
|
UTSW |
11 |
78,305,042 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7091:Spag5
|
UTSW |
11 |
78,313,191 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7332:Spag5
|
UTSW |
11 |
78,313,379 (GRCm38) |
nonsense |
probably null |
|
|
R8073:Spag5
|
UTSW |
11 |
78,301,977 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8709:Spag5
|
UTSW |
11 |
78,301,912 (GRCm38) |
missense |
probably benign |
|
|
R8723:Spag5
|
UTSW |
11 |
78,321,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8976:Spag5
|
UTSW |
11 |
78,304,587 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9053:Spag5
|
UTSW |
11 |
78,321,749 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9142:Spag5
|
UTSW |
11 |
78,301,997 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
Z1176:Spag5
|
UTSW |
11 |
78,314,982 (GRCm38) |
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