Incidental Mutation 'R8976:Spag5'
| ID |
683451 |
| 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 |
068810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8976 (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 C
at 78195413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 240
(V240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045026]
|
| AlphaFold |
Q7TME2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045026
AA Change: V240A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000045286
Gene: ENSMUSG00000002055
AA Change: V240A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (60/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
A |
G |
3: 87,635,321 (GRCm39) |
I906V |
probably benign |
Het |
| Atad2b |
T |
A |
12: 4,967,923 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,772,819 (GRCm39) |
D1243E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,223,117 (GRCm39) |
H73Q |
probably benign |
Het |
| Bdp1 |
C |
A |
13: 100,197,407 (GRCm39) |
G993* |
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,118 (GRCm39) |
I883F |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Crem |
A |
G |
18: 3,268,088 (GRCm39) |
V80A |
possibly damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,479,399 (GRCm39) |
K62E |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,917,666 (GRCm39) |
I4132F |
probably damaging |
Het |
| Dnm3 |
G |
A |
1: 162,135,505 (GRCm39) |
P423S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,969 (GRCm39) |
V572L |
probably benign |
Het |
| F12 |
T |
A |
13: 55,569,777 (GRCm39) |
|
probably benign |
Het |
| F2 |
A |
G |
2: 91,466,738 (GRCm39) |
S2P |
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,329,451 (GRCm39) |
E436G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,484,332 (GRCm39) |
V3190A |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,901,882 (GRCm38) |
|
probably null |
Het |
| Frs3 |
A |
T |
17: 48,009,546 (GRCm39) |
D9V |
probably benign |
Het |
| Galnt17 |
T |
G |
5: 130,935,543 (GRCm39) |
E380A |
probably benign |
Het |
| Glrb |
A |
C |
3: 80,758,363 (GRCm39) |
V350G |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,486 (GRCm39) |
K1336M |
possibly damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,650 (GRCm39) |
V159E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,659 (GRCm39) |
E310G |
probably damaging |
Het |
| Il2rb |
C |
T |
15: 78,370,681 (GRCm39) |
D145N |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,692,005 (GRCm39) |
I535V |
probably benign |
Het |
| Keap1 |
A |
C |
9: 21,142,663 (GRCm39) |
L531V |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,957 (GRCm39) |
W456R |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,329 (GRCm39) |
H1910Q |
probably damaging |
Het |
| Mybphl |
G |
A |
3: 108,272,334 (GRCm39) |
E8K |
probably damaging |
Het |
| Odad3 |
T |
A |
9: 21,903,334 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,363 (GRCm39) |
S26G |
probably benign |
Het |
| Or10a4 |
T |
C |
7: 106,697,466 (GRCm39) |
S265P |
possibly damaging |
Het |
| Or5p73 |
T |
A |
7: 108,064,630 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,885 (GRCm39) |
V284A |
probably damaging |
Het |
| Or7a38 |
T |
C |
10: 78,753,418 (GRCm39) |
I248T |
possibly damaging |
Het |
| Or7g22 |
T |
A |
9: 19,049,141 (GRCm39) |
M284K |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,651,396 (GRCm39) |
|
probably benign |
Het |
| Plekha8 |
A |
T |
6: 54,607,521 (GRCm39) |
E376V |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,638,037 (GRCm39) |
V144A |
possibly damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,977 (GRCm39) |
N101I |
probably damaging |
Het |
| Prr18 |
T |
C |
17: 8,560,047 (GRCm39) |
S68P |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,461,669 (GRCm39) |
R1153H |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,922,789 (GRCm39) |
F293L |
possibly damaging |
Het |
| Shank3 |
A |
G |
15: 89,442,381 (GRCm39) |
E1758G |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,057,851 (GRCm39) |
I167N |
probably damaging |
Het |
| Ski |
A |
G |
4: 155,242,411 (GRCm39) |
S663P |
probably damaging |
Het |
| Slc49a3 |
A |
C |
5: 108,589,897 (GRCm39) |
S502A |
probably benign |
Het |
| Spa17 |
C |
T |
9: 37,523,254 (GRCm39) |
R11Q |
possibly damaging |
Het |
| Srl |
A |
T |
16: 4,300,894 (GRCm39) |
Y726N |
probably damaging |
Het |
| Ssbp4 |
A |
T |
8: 71,052,336 (GRCm39) |
|
probably null |
Het |
| Surf1 |
A |
T |
2: 26,805,767 (GRCm39) |
C48S |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
| Tmem176b |
A |
G |
6: 48,812,600 (GRCm39) |
S122P |
probably damaging |
Het |
| Trim23 |
G |
T |
13: 104,328,545 (GRCm39) |
L355F |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,545,110 (GRCm39) |
T32664M |
probably damaging |
Het |
| Ulk3 |
T |
A |
9: 57,502,220 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,511,169 (GRCm39) |
H59R |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,719 (GRCm39) |
I91V |
probably benign |
Het |
| Vmn2r10 |
T |
A |
5: 109,145,479 (GRCm39) |
N543Y |
probably damaging |
Het |
| Zbtb14 |
G |
A |
17: 69,694,752 (GRCm39) |
R150H |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,079 (GRCm39) |
Y585H |
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 |
|
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 |
|
|
R8723:Spag5
|
UTSW |
11 |
78,212,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACCTTGTGTGGAAGACAGC -3'
(R):5'- GGAATCCTACTGGCGTCTTC -3'
Sequencing Primer
(F):5'- CCTTGTGTGGAAGACAGCCTAAC -3'
(R):5'- GGAATCCTACTGGCGTCTTCTACTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation