Incidental Mutation 'R6246:Spag16'
ID |
505742 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
044436-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R6246 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69962980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 376
(I376F)
|
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
AA Change: I376F
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: I376F
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: ENSMUST00000158720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190833
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (78/78) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,850,999 (GRCm39) |
V2110E |
probably damaging |
Het |
Acaca |
C |
A |
11: 84,206,796 (GRCm39) |
T1552K |
probably benign |
Het |
Aknad1 |
A |
G |
3: 108,659,148 (GRCm39) |
D54G |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,187,462 (GRCm39) |
T435A |
possibly damaging |
Het |
Azgp1 |
A |
G |
5: 137,983,475 (GRCm39) |
D50G |
possibly damaging |
Het |
Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
Ccdc85a |
C |
T |
11: 28,526,897 (GRCm39) |
S209N |
probably damaging |
Het |
Cdca2 |
T |
A |
14: 67,915,277 (GRCm39) |
R661* |
probably null |
Het |
Cdhr2 |
T |
C |
13: 54,867,523 (GRCm39) |
V451A |
probably damaging |
Het |
Cenpt |
C |
T |
8: 106,575,891 (GRCm39) |
G152S |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,659,045 (GRCm39) |
T2A |
probably damaging |
Het |
Chst14 |
G |
A |
2: 118,757,482 (GRCm39) |
C117Y |
probably damaging |
Het |
Cic |
C |
T |
7: 24,971,067 (GRCm39) |
T266M |
probably damaging |
Het |
Clec12a |
A |
T |
6: 129,330,733 (GRCm39) |
N105I |
possibly damaging |
Het |
Cmah |
G |
A |
13: 24,650,773 (GRCm39) |
V525M |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,239,498 (GRCm39) |
L1233H |
probably damaging |
Het |
Cpt1a |
T |
C |
19: 3,426,550 (GRCm39) |
L572P |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,816,657 (GRCm39) |
L1365P |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dlg1 |
G |
A |
16: 31,484,468 (GRCm39) |
S32N |
probably benign |
Het |
Dnah14 |
T |
C |
1: 181,508,453 (GRCm39) |
I1877T |
probably benign |
Het |
Duox1 |
G |
T |
2: 122,157,655 (GRCm39) |
G594C |
probably damaging |
Het |
Eci2 |
T |
C |
13: 35,174,181 (GRCm39) |
N127D |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,811,365 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
C |
3: 38,945,870 (GRCm39) |
S1588P |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,866,902 (GRCm39) |
I1489F |
probably damaging |
Het |
Flrt3 |
A |
G |
2: 140,501,721 (GRCm39) |
Y636H |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,381,529 (GRCm39) |
H62L |
possibly damaging |
Het |
Gm6309 |
A |
T |
5: 146,107,050 (GRCm39) |
Y99N |
probably damaging |
Het |
Gm8225 |
T |
C |
17: 26,762,652 (GRCm39) |
V281A |
probably benign |
Het |
Grep1 |
C |
A |
17: 23,929,465 (GRCm39) |
G315* |
probably null |
Het |
Grsf1 |
A |
G |
5: 88,810,451 (GRCm39) |
L353P |
possibly damaging |
Het |
Gtf2a1l |
A |
G |
17: 88,978,975 (GRCm39) |
R58G |
probably benign |
Het |
Guf1 |
G |
A |
5: 69,715,898 (GRCm39) |
G113R |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,212 (GRCm39) |
F51I |
probably damaging |
Het |
Hibch |
T |
C |
1: 52,943,801 (GRCm39) |
S250P |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,533,631 (GRCm39) |
M509K |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,175,577 (GRCm39) |
V595A |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,972,546 (GRCm39) |
T460A |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,944,657 (GRCm39) |
K459N |
probably damaging |
Het |
Kdm5a |
G |
A |
6: 120,408,871 (GRCm39) |
G1518E |
probably damaging |
Het |
Khsrp |
T |
C |
17: 57,332,324 (GRCm39) |
D289G |
possibly damaging |
Het |
Kif14 |
C |
T |
1: 136,404,162 (GRCm39) |
Q29* |
probably null |
Het |
Krt72 |
T |
C |
15: 101,689,372 (GRCm39) |
K320R |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,970,870 (GRCm39) |
L71P |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,156,136 (GRCm39) |
D1037V |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,713,058 (GRCm39) |
T15A |
unknown |
Het |
Mia3 |
G |
T |
1: 183,126,720 (GRCm39) |
T7N |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,488,363 (GRCm39) |
|
probably null |
Het |
Mup9 |
T |
A |
4: 60,375,809 (GRCm39) |
Y29F |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,894,516 (GRCm39) |
D1105G |
probably damaging |
Het |
Odad1 |
A |
G |
7: 45,585,788 (GRCm39) |
I116V |
probably damaging |
Het |
Oip5 |
T |
C |
2: 119,446,101 (GRCm39) |
T136A |
probably benign |
Het |
Or2a52 |
G |
A |
6: 43,144,436 (GRCm39) |
|
probably null |
Het |
Osbpl10 |
C |
A |
9: 115,055,842 (GRCm39) |
N532K |
probably benign |
Het |
P2ry12 |
C |
T |
3: 59,124,950 (GRCm39) |
V242I |
probably benign |
Het |
Pdhx |
A |
T |
2: 102,877,137 (GRCm39) |
C26S |
probably damaging |
Het |
Pgk2 |
A |
T |
17: 40,518,315 (GRCm39) |
I371K |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,704,495 (GRCm39) |
V238A |
probably damaging |
Het |
Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,791,475 (GRCm39) |
C448* |
probably null |
Het |
Plk1 |
T |
A |
7: 121,768,659 (GRCm39) |
I553N |
probably damaging |
Het |
Ppp1r13l |
T |
A |
7: 19,103,783 (GRCm39) |
I88K |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
Septin7 |
A |
G |
9: 25,218,817 (GRCm39) |
E428G |
probably benign |
Het |
Serpina3j |
G |
A |
12: 104,283,706 (GRCm39) |
G268D |
probably damaging |
Het |
Smc2 |
A |
T |
4: 52,460,289 (GRCm39) |
D555V |
probably damaging |
Het |
Spag6 |
G |
A |
2: 18,703,906 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,289,204 (GRCm39) |
I454V |
probably benign |
Het |
Tlcd3b |
T |
A |
7: 126,426,668 (GRCm39) |
F30L |
probably damaging |
Het |
Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
Traf5 |
C |
T |
1: 191,754,853 (GRCm39) |
E28K |
probably damaging |
Het |
Trav23 |
G |
A |
14: 54,214,885 (GRCm39) |
E33K |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,801 (GRCm39) |
S453P |
probably damaging |
Het |
Tssk1 |
A |
G |
16: 17,713,303 (GRCm39) |
T363A |
probably benign |
Het |
Txnrd3 |
A |
G |
6: 89,628,523 (GRCm39) |
N88S |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,216,246 (GRCm39) |
S182G |
probably benign |
Het |
Vmn2r89 |
A |
T |
14: 51,693,503 (GRCm39) |
R284S |
probably damaging |
Het |
Zbtb14 |
A |
G |
17: 69,694,478 (GRCm39) |
T59A |
possibly damaging |
Het |
Zcchc2 |
T |
A |
1: 105,957,796 (GRCm39) |
S756T |
possibly damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
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 |
|
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'- CAGGAACTCAAAAGCCAAAGTTTG -3'
(R):5'- TGGGAATCTTGGACTCCTTCAG -3'
Sequencing Primer
(F):5'- CCATGCAGATCTTATACTTGTTTGTG -3'
(R):5'- TCCTTCAGGAGTCCAAAAAGAAC -3'
|
Posted On |
2018-02-28 |