Incidental Mutation 'R1873:Spag16'
| ID |
210911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
039895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R1873 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 69935744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113940
|
| SMART Domains |
Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
| 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: ENSMUST00000187159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190833
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
98% (82/84) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,870,781 (GRCm39) |
I124L |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
| Adam34 |
A |
C |
8: 44,104,843 (GRCm39) |
N267K |
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,503,551 (GRCm39) |
D301G |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,536,886 (GRCm39) |
D40Y |
probably damaging |
Het |
| Cacna2d2 |
T |
G |
9: 107,391,071 (GRCm39) |
M400R |
probably damaging |
Het |
| Cd96 |
C |
A |
16: 45,938,335 (GRCm39) |
L43F |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,871,560 (GRCm39) |
E104G |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
| Cfhr4 |
C |
T |
1: 139,702,398 (GRCm39) |
E29K |
probably damaging |
Het |
| Chil4 |
C |
T |
3: 106,113,414 (GRCm39) |
E168K |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,452,590 (GRCm39) |
V631A |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,552,902 (GRCm39) |
A649V |
possibly damaging |
Het |
| Commd9 |
A |
G |
2: 101,727,502 (GRCm39) |
T99A |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
| Cyth3 |
T |
A |
5: 143,683,516 (GRCm39) |
H138Q |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,652,303 (GRCm39) |
V1135A |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,837 (GRCm39) |
H152N |
probably benign |
Het |
| Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
| Gnrhr |
A |
G |
5: 86,330,060 (GRCm39) |
L320P |
probably damaging |
Het |
| Gorasp1 |
A |
T |
9: 119,759,306 (GRCm39) |
S138T |
probably benign |
Het |
| Hars1 |
C |
A |
18: 36,900,294 (GRCm39) |
Q469H |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,286,111 (GRCm39) |
K34E |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,978,823 (GRCm39) |
I198V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,567,057 (GRCm39) |
S39P |
probably damaging |
Het |
| Kcnk12 |
G |
T |
17: 88,053,499 (GRCm39) |
Q388K |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,874,104 (GRCm39) |
I548T |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,261,880 (GRCm39) |
Y351H |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,952 (GRCm39) |
I678F |
probably damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,531 (GRCm39) |
I194N |
probably damaging |
Het |
| Ms4a6d |
A |
G |
19: 11,579,223 (GRCm39) |
S85P |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,145,569 (GRCm39) |
Y1351N |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,322,789 (GRCm39) |
D73G |
probably damaging |
Het |
| Mzt1 |
C |
T |
14: 99,278,097 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
A |
14: 123,521,013 (GRCm39) |
H1631Y |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,661 (GRCm39) |
N213S |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,437,987 (GRCm39) |
T99K |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,749,843 (GRCm39) |
S547G |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,112,587 (GRCm39) |
I190F |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,290,438 (GRCm39) |
|
probably benign |
Het |
| Or2ag12 |
T |
A |
7: 106,277,691 (GRCm39) |
M1L |
probably damaging |
Het |
| Or5b12 |
C |
T |
19: 12,896,852 (GRCm39) |
V274M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,918,767 (GRCm39) |
V948I |
probably damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,264,824 (GRCm39) |
D880G |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
| Polg |
A |
G |
7: 79,106,241 (GRCm39) |
L678S |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,995,350 (GRCm39) |
V1293I |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,442 (GRCm39) |
D195E |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,990 (GRCm39) |
R241W |
probably damaging |
Het |
| Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,621,276 (GRCm39) |
|
probably benign |
Het |
| Sost |
T |
C |
11: 101,855,069 (GRCm39) |
E80G |
probably damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
| Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,606,668 (GRCm39) |
L496Q |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,173,786 (GRCm39) |
I976T |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,390,431 (GRCm39) |
V376D |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,680 (GRCm39) |
D606G |
probably damaging |
Het |
| Tmc2 |
A |
C |
2: 130,090,676 (GRCm39) |
N674T |
possibly damaging |
Het |
| Top3a |
C |
A |
11: 60,638,810 (GRCm39) |
E562* |
probably null |
Het |
| Umodl1 |
A |
T |
17: 31,201,238 (GRCm39) |
D389V |
probably damaging |
Het |
| Uso1 |
T |
C |
5: 92,340,718 (GRCm39) |
|
probably benign |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,223 (GRCm39) |
V293A |
possibly damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,840 (GRCm39) |
T52A |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,479 (GRCm39) |
V461I |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,582,415 (GRCm39) |
I7F |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,271,233 (GRCm39) |
F80S |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,940,647 (GRCm39) |
S258G |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,123 (GRCm39) |
D3G |
probably benign |
Het |
| Zc3hav1 |
C |
T |
6: 38,309,692 (GRCm39) |
V377I |
possibly damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTAGCCTGTCTCATGAG -3'
(R):5'- TAACAAGACGCCAGTGCTG -3'
Sequencing Primer
(F):5'- AATGCATGCATTAAAAGATTCTTGG -3'
(R):5'- AAGACGCCAGTGCTGTTTGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation