Incidental Mutation 'R8930:Spag16'
| ID |
680219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
068774-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R8930 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 70338928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065425
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,629,693 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,402 (GRCm39) |
T435A |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Ass1 |
T |
A |
2: 31,382,387 (GRCm39) |
M186K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,507,182 (GRCm39) |
D312G |
probably benign |
Het |
| Btg3 |
T |
A |
16: 78,170,298 (GRCm39) |
N3I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,294,882 (GRCm39) |
F649L |
probably damaging |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,110,780 (GRCm39) |
V27E |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,580,665 (GRCm39) |
S1512T |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,217,623 (GRCm39) |
T79A |
probably benign |
Het |
| Defa24 |
T |
C |
8: 22,225,373 (GRCm39) |
Y88H |
probably benign |
Het |
| Dgkz |
C |
T |
2: 91,769,915 (GRCm39) |
R389Q |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,718 (GRCm39) |
D796E |
probably damaging |
Het |
| Dyrk3 |
G |
T |
1: 131,057,293 (GRCm39) |
D293E |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,854,767 (GRCm39) |
D606G |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,453,844 (GRCm39) |
G18S |
probably benign |
Het |
| Fam8a1 |
C |
T |
13: 46,827,868 (GRCm39) |
T352M |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,835 (GRCm39) |
L52Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,910,819 (GRCm39) |
H1728Y |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,662,868 (GRCm39) |
V39A |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,030 (GRCm39) |
V484A |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,842,571 (GRCm39) |
Q492R |
possibly damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,318 (GRCm39) |
H36R |
possibly damaging |
Het |
| Insyn2a |
A |
G |
7: 134,500,881 (GRCm39) |
I408T |
probably damaging |
Het |
| Insyn2b |
T |
C |
11: 34,352,707 (GRCm39) |
S250P |
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,798,513 (GRCm39) |
I214V |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,544,010 (GRCm39) |
P853L |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,822,022 (GRCm39) |
T746A |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,234,377 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,300,628 (GRCm39) |
S1469P |
possibly damaging |
Het |
| Mrps30 |
C |
T |
13: 118,523,695 (GRCm39) |
A26T |
probably benign |
Het |
| Mup10 |
T |
A |
4: 60,536,708 (GRCm39) |
T92S |
possibly damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,239 (GRCm39) |
D514G |
possibly damaging |
Het |
| Pacs1 |
T |
A |
19: 5,185,030 (GRCm39) |
S932C |
probably damaging |
Het |
| Pbx2 |
C |
T |
17: 34,813,563 (GRCm39) |
R188C |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,762,989 (GRCm39) |
P536S |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,672,269 (GRCm39) |
I377N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,041 (GRCm39) |
K758E |
possibly damaging |
Het |
| Pramel34 |
T |
G |
5: 93,785,944 (GRCm39) |
D112A |
probably benign |
Het |
| Ptprm |
C |
T |
17: 67,263,846 (GRCm39) |
R467H |
probably benign |
Het |
| Scnn1b |
C |
T |
7: 121,502,067 (GRCm39) |
R242C |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,908,134 (GRCm39) |
S19P |
possibly damaging |
Het |
| Slc28a1 |
T |
A |
7: 80,817,715 (GRCm39) |
V528D |
probably benign |
Het |
| Slc6a17 |
G |
T |
3: 107,379,507 (GRCm39) |
Q554K |
probably benign |
Het |
| Spata31d1e |
C |
T |
13: 59,890,015 (GRCm39) |
E184K |
possibly damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,623,117 (GRCm39) |
N377K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,304,895 (GRCm39) |
S296P |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,740,359 (GRCm39) |
I1178F |
probably damaging |
Het |
| Tomt |
C |
T |
7: 101,550,350 (GRCm39) |
A139T |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,974,967 (GRCm39) |
Q75R |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,583,468 (GRCm39) |
K58E |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,834,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,998 (GRCm39) |
T149A |
probably benign |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,127 (GRCm39) |
V96M |
probably benign |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,666 (GRCm39) |
I247N |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,932,241 (GRCm39) |
C138R |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,940,226 (GRCm39) |
V837E |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,312,707 (GRCm39) |
H59Y |
possibly damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,568,434 (GRCm39) |
D883E |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,368 (GRCm39) |
D187E |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,442 (GRCm39) |
V148A |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,780,692 (GRCm39) |
D180G |
possibly damaging |
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 |
|
R4648:Spag16
|
UTSW |
1 |
69,866,194 (GRCm39) |
missense |
probably null |
0.99 |
|
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 |
|
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'- CTACCTCAAGTGGTGACAGC -3'
(R):5'- TTAACACAGGCTTGGTCTTGTTC -3'
Sequencing Primer
(F):5'- TCAAGTGGTGACAGCACAATC -3'
(R):5'- GTCTTGTTCTAGATGCTCAGAAAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation