Incidental Mutation 'IGL03271:Spag16'
| ID |
415278 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
IGL03271
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69892511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 97
(N97K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065425
AA Change: N97K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: N97K
| 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 benign
Transcript: ENSMUST00000113940
AA Change: N97K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: N97K
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,392,408 (GRCm39) |
V248L |
probably benign |
Het |
| Actl6b |
T |
A |
5: 137,564,246 (GRCm39) |
I256N |
probably damaging |
Het |
| Agl |
G |
T |
3: 116,572,776 (GRCm39) |
T825K |
probably benign |
Het |
| Arid5b |
A |
T |
10: 67,933,287 (GRCm39) |
S629T |
possibly damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,727,708 (GRCm39) |
I495T |
possibly damaging |
Het |
| Bcl6 |
G |
T |
16: 23,788,756 (GRCm39) |
H537Q |
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,586,539 (GRCm39) |
E786G |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,373,663 (GRCm39) |
N1307K |
probably benign |
Het |
| Cops3 |
A |
T |
11: 59,723,889 (GRCm39) |
N89K |
probably damaging |
Het |
| Cyp4a29 |
T |
C |
4: 115,111,705 (GRCm39) |
V494A |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,676,710 (GRCm39) |
H675R |
possibly damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,365,274 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,483,126 (GRCm39) |
K2107N |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,386,275 (GRCm39) |
L382* |
probably null |
Het |
| Faxc |
A |
C |
4: 21,948,757 (GRCm39) |
K156N |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gapvd1 |
C |
A |
2: 34,617,219 (GRCm39) |
|
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,382,076 (GRCm39) |
Y717H |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,699 (GRCm39) |
T223S |
probably benign |
Het |
| Gstm3 |
C |
A |
3: 107,873,513 (GRCm39) |
V153F |
possibly damaging |
Het |
| H2-M10.5 |
G |
T |
17: 37,084,243 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,474,175 (GRCm39) |
H4756N |
possibly damaging |
Het |
| Ift140 |
C |
A |
17: 25,306,880 (GRCm39) |
R872S |
probably damaging |
Het |
| Lars2 |
T |
A |
9: 123,288,549 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
G |
7: 27,029,240 (GRCm39) |
V149A |
unknown |
Het |
| Mpp2 |
A |
T |
11: 101,954,249 (GRCm39) |
|
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,334,744 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
C |
A |
9: 48,304,345 (GRCm39) |
P144Q |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,982 (GRCm39) |
I126N |
probably damaging |
Het |
| Or5p6 |
C |
T |
7: 107,630,714 (GRCm39) |
V279M |
probably damaging |
Het |
| Parp4 |
C |
A |
14: 56,823,082 (GRCm39) |
N67K |
probably benign |
Het |
| Pdk1 |
G |
T |
2: 71,710,374 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
T |
9: 82,766,877 (GRCm39) |
|
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,658,883 (GRCm39) |
S202P |
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,943,874 (GRCm39) |
Y36C |
probably benign |
Het |
| Pole |
T |
C |
5: 110,466,185 (GRCm39) |
S1296P |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,610,014 (GRCm39) |
S4P |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sec61a2 |
A |
T |
2: 5,887,745 (GRCm39) |
L79* |
probably null |
Het |
| Slc2a5 |
T |
C |
4: 150,220,040 (GRCm39) |
L152P |
probably damaging |
Het |
| Smu1 |
C |
T |
4: 40,738,408 (GRCm39) |
G442D |
probably benign |
Het |
| Spag6l |
C |
T |
16: 16,598,592 (GRCm39) |
D300N |
probably damaging |
Het |
| Sult3a1 |
A |
G |
10: 33,739,997 (GRCm39) |
T19A |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,047,513 (GRCm39) |
H704R |
probably benign |
Het |
| Uba1 |
T |
A |
X: 20,541,956 (GRCm39) |
D569E |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,205,473 (GRCm39) |
Y689* |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,734,762 (GRCm39) |
|
probably benign |
Het |
| Utp15 |
C |
A |
13: 98,390,202 (GRCm39) |
V282F |
probably damaging |
Het |
| Vmn1r184 |
A |
G |
7: 25,967,034 (GRCm39) |
Y260C |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,596 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation