Incidental Mutation 'R4648:Spag16'
ID |
350450 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
041909-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R4648 (G1)
|
Quality Score |
193 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69866194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 11
(R11Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000065425]
[ENSMUST00000113940]
[ENSMUST00000113940]
|
AlphaFold |
Q8K450 |
Predicted Effect |
probably null
Transcript: ENSMUST00000065425
AA Change: R11Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: R11Q
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
coiled coil region
|
146 |
190 |
N/A |
INTRINSIC |
WD40
|
349 |
388 |
7.8e-2 |
SMART |
WD40
|
391 |
430 |
6.23e-10 |
SMART |
WD40
|
433 |
472 |
1.34e-9 |
SMART |
WD40
|
475 |
514 |
1.92e-10 |
SMART |
WD40
|
517 |
556 |
2.38e-6 |
SMART |
WD40
|
559 |
598 |
1.42e2 |
SMART |
WD40
|
600 |
639 |
4.83e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065425
AA Change: R11Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: R11Q
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
coiled coil region
|
146 |
190 |
N/A |
INTRINSIC |
WD40
|
349 |
388 |
7.8e-2 |
SMART |
WD40
|
391 |
430 |
6.23e-10 |
SMART |
WD40
|
433 |
472 |
1.34e-9 |
SMART |
WD40
|
475 |
514 |
1.92e-10 |
SMART |
WD40
|
517 |
556 |
2.38e-6 |
SMART |
WD40
|
559 |
598 |
1.42e2 |
SMART |
WD40
|
600 |
639 |
4.83e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113940
AA Change: R11Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: R11Q
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
coiled coil region
|
146 |
190 |
N/A |
INTRINSIC |
low complexity region
|
342 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113940
AA Change: R11Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: R11Q
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
coiled coil region
|
146 |
190 |
N/A |
INTRINSIC |
low complexity region
|
342 |
347 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161131
|
SMART Domains |
Protein: ENSMUSP00000124372 Gene: ENSMUSG00000053153
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
coiled coil region
|
146 |
190 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190833
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008] PHENOTYPE: Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700031F05Rik |
G |
T |
X: 101,904,515 (GRCm39) |
N132K |
possibly damaging |
Het |
2010315B03Rik |
T |
A |
9: 124,056,228 (GRCm39) |
Y232F |
probably benign |
Het |
2310079G19Rik |
T |
C |
16: 88,424,255 (GRCm39) |
S79G |
probably benign |
Het |
4930568D16Rik |
T |
A |
2: 35,244,458 (GRCm39) |
Y298F |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,482,953 (GRCm39) |
F352L |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,539,580 (GRCm39) |
Y93F |
probably benign |
Het |
Ankrd33b |
T |
C |
15: 31,325,170 (GRCm39) |
*129W |
probably null |
Het |
Atp5pf |
T |
C |
16: 84,625,343 (GRCm39) |
M87V |
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,361,457 (GRCm39) |
S822P |
possibly damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Bbs2 |
A |
T |
8: 94,807,507 (GRCm39) |
V429E |
probably damaging |
Het |
Bccip |
C |
T |
7: 133,316,628 (GRCm39) |
L83F |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,088,895 (GRCm39) |
V198I |
probably benign |
Het |
C1galt1c1 |
A |
T |
X: 37,720,349 (GRCm39) |
S216T |
probably benign |
Het |
Calhm1 |
A |
G |
19: 47,132,240 (GRCm39) |
L125P |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,395,705 (GRCm39) |
Q532L |
possibly damaging |
Het |
Cdh19 |
G |
A |
1: 110,852,907 (GRCm39) |
L343F |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,778,344 (GRCm39) |
S1653P |
possibly damaging |
Het |
Cmtm4 |
A |
G |
8: 105,082,952 (GRCm39) |
I135T |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,230,336 (GRCm39) |
L1584P |
possibly damaging |
Het |
Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
Crp |
A |
G |
1: 172,525,704 (GRCm39) |
M1V |
probably null |
Het |
Csmd1 |
G |
A |
8: 16,048,788 (GRCm39) |
Q2305* |
probably null |
Het |
Cyp2c38 |
T |
A |
19: 39,449,132 (GRCm39) |
I74F |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dcaf1 |
A |
T |
9: 106,742,876 (GRCm39) |
|
probably benign |
Het |
Dhx16 |
C |
G |
17: 36,196,527 (GRCm39) |
A565G |
probably benign |
Het |
Dock7 |
C |
A |
4: 98,857,881 (GRCm39) |
E1448* |
probably null |
Het |
Dpf2 |
C |
T |
19: 5,957,109 (GRCm39) |
R38H |
probably damaging |
Het |
E030030I06Rik |
T |
A |
10: 22,024,744 (GRCm39) |
R56S |
unknown |
Het |
Etnk1 |
A |
G |
6: 143,141,000 (GRCm39) |
Y248C |
probably damaging |
Het |
Ext1 |
A |
G |
15: 52,953,383 (GRCm39) |
S494P |
possibly damaging |
Het |
Gk2 |
T |
C |
5: 97,603,579 (GRCm39) |
S420G |
probably benign |
Het |
Gm26596 |
T |
C |
10: 112,765,064 (GRCm39) |
|
probably benign |
Het |
Gm5414 |
G |
T |
15: 101,536,543 (GRCm39) |
N27K |
possibly damaging |
Het |
Gskip |
A |
G |
12: 105,664,988 (GRCm39) |
D9G |
probably benign |
Het |
H2-K2 |
T |
A |
17: 34,194,989 (GRCm39) |
|
noncoding transcript |
Het |
Hk1 |
T |
G |
10: 62,140,558 (GRCm39) |
S105R |
probably benign |
Het |
Hmg20b |
T |
A |
10: 81,184,416 (GRCm39) |
Q129L |
probably damaging |
Het |
Idnk |
A |
G |
13: 58,310,683 (GRCm39) |
D67G |
probably benign |
Het |
Igfbp5 |
G |
T |
1: 72,903,222 (GRCm39) |
H118N |
probably benign |
Het |
Irf4 |
A |
T |
13: 30,947,580 (GRCm39) |
Y427F |
probably benign |
Het |
Khdc3 |
A |
G |
9: 73,009,868 (GRCm39) |
E26G |
possibly damaging |
Het |
Kif7 |
T |
C |
7: 79,358,939 (GRCm39) |
D512G |
probably damaging |
Het |
Lamb3 |
T |
A |
1: 193,013,665 (GRCm39) |
I513N |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,760,860 (GRCm39) |
L174P |
probably damaging |
Het |
Lnx1 |
C |
T |
5: 74,771,457 (GRCm39) |
V350I |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,668,850 (GRCm39) |
D812G |
probably benign |
Het |
Mast2 |
G |
T |
4: 116,172,036 (GRCm39) |
Y637* |
probably null |
Het |
Matn2 |
T |
C |
15: 34,428,679 (GRCm39) |
I681T |
probably damaging |
Het |
Med18 |
A |
T |
4: 132,190,274 (GRCm39) |
V37D |
possibly damaging |
Het |
Mip |
T |
A |
10: 128,062,922 (GRCm39) |
H122Q |
probably benign |
Het |
Mmp13 |
A |
T |
9: 7,274,233 (GRCm39) |
D180V |
probably damaging |
Het |
Mpg |
C |
A |
11: 32,180,034 (GRCm39) |
C187* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,237,567 (GRCm39) |
E256G |
probably benign |
Het |
Myo7b |
C |
T |
18: 32,100,178 (GRCm39) |
|
probably null |
Het |
Nhsl3 |
G |
T |
4: 129,115,733 (GRCm39) |
T977K |
probably benign |
Het |
Nmt1 |
T |
A |
11: 102,954,743 (GRCm39) |
V425D |
probably damaging |
Het |
Nynrin |
T |
A |
14: 56,110,351 (GRCm39) |
Y1819* |
probably null |
Het |
Or10ak16 |
A |
G |
4: 118,751,147 (GRCm39) |
N289S |
possibly damaging |
Het |
Or4c107 |
T |
A |
2: 88,789,556 (GRCm39) |
F249I |
probably damaging |
Het |
Or5i1 |
T |
C |
2: 87,613,565 (GRCm39) |
V227A |
possibly damaging |
Het |
Otof |
T |
C |
5: 30,540,914 (GRCm39) |
E875G |
possibly damaging |
Het |
Paqr3 |
T |
A |
5: 97,256,069 (GRCm39) |
R102* |
probably null |
Het |
Phc1 |
T |
C |
6: 122,298,872 (GRCm39) |
I699V |
possibly damaging |
Het |
Prkdc |
T |
G |
16: 15,634,638 (GRCm39) |
D3594E |
probably benign |
Het |
Pstpip1 |
A |
T |
9: 56,032,502 (GRCm39) |
D246V |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
Ror2 |
A |
T |
13: 53,439,536 (GRCm39) |
C9* |
probably null |
Het |
Setd1b |
C |
T |
5: 123,286,175 (GRCm39) |
A407V |
unknown |
Het |
Slc26a4 |
T |
G |
12: 31,590,525 (GRCm39) |
D376A |
possibly damaging |
Het |
Smarcad1 |
A |
G |
6: 65,044,073 (GRCm39) |
E215G |
probably benign |
Het |
Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,043,251 (GRCm39) |
C746R |
probably benign |
Het |
Tdh |
A |
G |
14: 63,731,205 (GRCm39) |
L323P |
possibly damaging |
Het |
Tet2 |
A |
T |
3: 133,193,843 (GRCm39) |
M197K |
probably benign |
Het |
Tnn |
T |
C |
1: 159,973,612 (GRCm39) |
M252V |
probably benign |
Het |
Trdn |
G |
T |
10: 33,071,977 (GRCm39) |
E215* |
probably null |
Het |
Trem1 |
G |
A |
17: 48,551,590 (GRCm39) |
V84I |
probably benign |
Het |
Tspan5 |
T |
C |
3: 138,604,076 (GRCm39) |
F154L |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,825,044 (GRCm39) |
R647G |
probably benign |
Het |
Usp50 |
T |
A |
2: 126,619,953 (GRCm39) |
I120F |
probably damaging |
Het |
Vil1 |
T |
C |
1: 74,471,457 (GRCm39) |
M746T |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,410,407 (GRCm39) |
M665K |
possibly damaging |
Het |
Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
probably benign |
Het |
|
Other mutations in Spag16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00793:Spag16
|
APN |
1 |
70,338,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01129:Spag16
|
APN |
1 |
69,935,681 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02117:Spag16
|
APN |
1 |
69,909,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02245:Spag16
|
APN |
1 |
69,897,661 (GRCm39) |
missense |
probably benign |
|
IGL02492:Spag16
|
APN |
1 |
69,926,688 (GRCm39) |
missense |
probably benign |
|
IGL02851:Spag16
|
APN |
1 |
70,304,067 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03271:Spag16
|
APN |
1 |
69,892,511 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03274:Spag16
|
APN |
1 |
69,883,540 (GRCm39) |
splice site |
probably benign |
|
PIT4243001:Spag16
|
UTSW |
1 |
69,892,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Spag16
|
UTSW |
1 |
70,035,998 (GRCm39) |
missense |
probably benign |
0.02 |
R0513:Spag16
|
UTSW |
1 |
70,532,927 (GRCm39) |
splice site |
probably benign |
|
R0653:Spag16
|
UTSW |
1 |
69,909,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1165:Spag16
|
UTSW |
1 |
70,036,036 (GRCm39) |
missense |
probably benign |
0.04 |
R1178:Spag16
|
UTSW |
1 |
69,962,817 (GRCm39) |
splice site |
probably benign |
|
R1180:Spag16
|
UTSW |
1 |
69,962,817 (GRCm39) |
splice site |
probably benign |
|
R1404:Spag16
|
UTSW |
1 |
69,934,439 (GRCm39) |
splice site |
probably benign |
|
R1547:Spag16
|
UTSW |
1 |
69,912,402 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1689:Spag16
|
UTSW |
1 |
70,500,277 (GRCm39) |
missense |
probably benign |
0.01 |
R1699:Spag16
|
UTSW |
1 |
70,036,015 (GRCm39) |
missense |
probably benign |
0.05 |
R1714:Spag16
|
UTSW |
1 |
69,882,164 (GRCm39) |
missense |
probably damaging |
0.97 |
R1724:Spag16
|
UTSW |
1 |
70,532,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Spag16
|
UTSW |
1 |
69,935,744 (GRCm39) |
splice site |
probably benign |
|
R2196:Spag16
|
UTSW |
1 |
69,897,681 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2207:Spag16
|
UTSW |
1 |
70,764,043 (GRCm39) |
missense |
probably benign |
0.00 |
R4058:Spag16
|
UTSW |
1 |
69,892,487 (GRCm39) |
missense |
probably damaging |
0.96 |
R4276:Spag16
|
UTSW |
1 |
69,912,640 (GRCm39) |
intron |
probably benign |
|
R4497:Spag16
|
UTSW |
1 |
70,532,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R4560:Spag16
|
UTSW |
1 |
69,883,455 (GRCm39) |
missense |
probably benign |
0.05 |
R4972:Spag16
|
UTSW |
1 |
70,764,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Spag16
|
UTSW |
1 |
69,962,963 (GRCm39) |
intron |
probably benign |
|
R5032:Spag16
|
UTSW |
1 |
69,892,511 (GRCm39) |
missense |
probably benign |
0.00 |
R5174:Spag16
|
UTSW |
1 |
70,532,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Spag16
|
UTSW |
1 |
69,935,742 (GRCm39) |
critical splice donor site |
probably null |
|
R5537:Spag16
|
UTSW |
1 |
69,866,175 (GRCm39) |
missense |
probably benign |
|
R5706:Spag16
|
UTSW |
1 |
69,909,448 (GRCm39) |
missense |
probably benign |
0.01 |
R5834:Spag16
|
UTSW |
1 |
69,962,873 (GRCm39) |
missense |
probably benign |
0.00 |
R6131:Spag16
|
UTSW |
1 |
70,764,242 (GRCm39) |
splice site |
probably null |
|
R6246:Spag16
|
UTSW |
1 |
69,962,980 (GRCm39) |
missense |
probably benign |
0.45 |
R7164:Spag16
|
UTSW |
1 |
70,764,025 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7261:Spag16
|
UTSW |
1 |
70,338,780 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7298:Spag16
|
UTSW |
1 |
69,958,585 (GRCm39) |
splice site |
probably null |
|
R7358:Spag16
|
UTSW |
1 |
69,883,526 (GRCm39) |
missense |
probably benign |
0.00 |
R7431:Spag16
|
UTSW |
1 |
69,963,031 (GRCm39) |
missense |
unknown |
|
R7508:Spag16
|
UTSW |
1 |
69,926,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7566:Spag16
|
UTSW |
1 |
69,909,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Spag16
|
UTSW |
1 |
70,036,000 (GRCm39) |
missense |
probably benign |
0.00 |
R7598:Spag16
|
UTSW |
1 |
69,909,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Spag16
|
UTSW |
1 |
69,866,247 (GRCm39) |
missense |
probably benign |
0.11 |
R8047:Spag16
|
UTSW |
1 |
69,882,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R8132:Spag16
|
UTSW |
1 |
70,420,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Spag16
|
UTSW |
1 |
69,934,407 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Spag16
|
UTSW |
1 |
70,036,017 (GRCm39) |
missense |
probably benign |
0.05 |
R8930:Spag16
|
UTSW |
1 |
70,338,928 (GRCm39) |
critical splice donor site |
probably null |
|
R8932:Spag16
|
UTSW |
1 |
70,338,928 (GRCm39) |
critical splice donor site |
probably null |
|
R8954:Spag16
|
UTSW |
1 |
70,036,004 (GRCm39) |
missense |
|
|
R8998:Spag16
|
UTSW |
1 |
69,935,706 (GRCm39) |
missense |
probably benign |
0.00 |
R9077:Spag16
|
UTSW |
1 |
70,532,930 (GRCm39) |
splice site |
probably benign |
|
R9144:Spag16
|
UTSW |
1 |
70,420,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R9145:Spag16
|
UTSW |
1 |
70,420,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Spag16
|
UTSW |
1 |
70,420,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R9160:Spag16
|
UTSW |
1 |
69,962,873 (GRCm39) |
missense |
probably benign |
0.00 |
R9192:Spag16
|
UTSW |
1 |
69,963,007 (GRCm39) |
missense |
unknown |
|
R9436:Spag16
|
UTSW |
1 |
69,892,539 (GRCm39) |
missense |
probably damaging |
0.96 |
R9582:Spag16
|
UTSW |
1 |
69,897,717 (GRCm39) |
missense |
probably benign |
0.00 |
R9660:Spag16
|
UTSW |
1 |
69,962,842 (GRCm39) |
missense |
probably benign |
0.03 |
R9666:Spag16
|
UTSW |
1 |
70,764,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R9671:Spag16
|
UTSW |
1 |
69,883,495 (GRCm39) |
missense |
probably benign |
0.29 |
R9728:Spag16
|
UTSW |
1 |
69,962,842 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCTGCAGTCCAAGCTTC -3'
(R):5'- ACACTCCATCAATGGCGTC -3'
Sequencing Primer
(F):5'- CGTCTGGGGTAACTAGGCAAC -3'
(R):5'- TCAATGGCGTCCACAGAC -3'
|
Posted On |
2015-10-08 |