Incidental Mutation 'R1714:Spag16'
ID |
190827 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
039747-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R1714 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69882164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 52
(E52G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
AlphaFold |
Q8K450 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065425
AA Change: E52G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: E52G
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 damaging
Transcript: ENSMUST00000113940
AA Change: E52G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: E52G
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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,464,479 (GRCm39) |
T892I |
possibly damaging |
Het |
Abcb11 |
A |
C |
2: 69,136,925 (GRCm39) |
F179V |
probably damaging |
Het |
Adgrg6 |
G |
T |
10: 14,315,514 (GRCm39) |
Q597K |
possibly damaging |
Het |
Ankmy1 |
G |
T |
1: 92,812,916 (GRCm39) |
Y464* |
probably null |
Het |
Apba1 |
G |
A |
19: 23,922,316 (GRCm39) |
E795K |
possibly damaging |
Het |
Aqp12 |
T |
A |
1: 92,934,681 (GRCm39) |
V186D |
possibly damaging |
Het |
Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
Cdc42se2 |
A |
T |
11: 54,631,112 (GRCm39) |
S2R |
possibly damaging |
Het |
Chd9 |
A |
C |
8: 91,760,853 (GRCm39) |
|
probably benign |
Het |
Clk4 |
C |
T |
11: 51,171,245 (GRCm39) |
H219Y |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 95,984,559 (GRCm39) |
Y417H |
probably damaging |
Het |
Cr2 |
A |
T |
1: 194,833,994 (GRCm39) |
F932I |
possibly damaging |
Het |
Cxxc1 |
C |
A |
18: 74,352,934 (GRCm39) |
R415S |
probably damaging |
Het |
Dclk2 |
G |
A |
3: 86,813,400 (GRCm39) |
A182V |
probably benign |
Het |
Ddx11 |
T |
G |
17: 66,455,754 (GRCm39) |
W718G |
probably damaging |
Het |
Dmd |
A |
C |
X: 83,008,356 (GRCm39) |
T2069P |
probably benign |
Het |
Dnai1 |
T |
C |
4: 41,632,164 (GRCm39) |
F533L |
probably benign |
Het |
Dnajc5b |
A |
T |
3: 19,633,265 (GRCm39) |
R163* |
probably null |
Het |
Dynll2 |
T |
A |
11: 87,874,838 (GRCm39) |
|
probably null |
Het |
Ercc5 |
A |
G |
1: 44,206,499 (GRCm39) |
T471A |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,016,435 (GRCm39) |
D563G |
probably benign |
Het |
Fbxo34 |
A |
G |
14: 47,766,658 (GRCm39) |
Y6C |
probably damaging |
Het |
Fcrl5 |
T |
A |
3: 87,353,713 (GRCm39) |
S353T |
probably damaging |
Het |
Gabrb3 |
A |
T |
7: 57,415,176 (GRCm39) |
Y82F |
probably damaging |
Het |
Gm20939 |
C |
A |
17: 95,183,234 (GRCm39) |
P157T |
probably damaging |
Het |
H2bc1 |
T |
C |
13: 24,117,935 (GRCm39) |
T69A |
probably benign |
Het |
Haus3 |
A |
T |
5: 34,321,041 (GRCm39) |
H468Q |
probably benign |
Het |
Il20ra |
T |
C |
10: 19,631,576 (GRCm39) |
V259A |
probably damaging |
Het |
Isg15 |
A |
T |
4: 156,284,414 (GRCm39) |
V38E |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,871,912 (GRCm39) |
S586P |
probably benign |
Het |
Kl |
A |
T |
5: 150,876,798 (GRCm39) |
Y206F |
probably benign |
Het |
Klk1b24 |
C |
A |
7: 43,840,939 (GRCm39) |
D122E |
probably damaging |
Het |
Kmt2d |
A |
C |
15: 98,760,831 (GRCm39) |
S840A |
unknown |
Het |
Krt34 |
A |
G |
11: 99,930,953 (GRCm39) |
S150P |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,830,769 (GRCm39) |
K1502R |
probably benign |
Het |
Letm1 |
G |
T |
5: 33,918,228 (GRCm39) |
R306S |
possibly damaging |
Het |
Lnx1 |
C |
T |
5: 74,768,398 (GRCm39) |
G397S |
probably null |
Het |
Lrrc8c |
A |
G |
5: 105,755,157 (GRCm39) |
T311A |
possibly damaging |
Het |
Mpeg1 |
A |
T |
19: 12,440,198 (GRCm39) |
D552V |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,054,232 (GRCm39) |
|
probably null |
Het |
Ndufa9 |
T |
C |
6: 126,799,154 (GRCm39) |
|
probably null |
Het |
Or4e5 |
A |
C |
14: 52,727,871 (GRCm39) |
|
probably null |
Het |
Or4f4b |
A |
T |
2: 111,314,008 (GRCm39) |
I78F |
probably damaging |
Het |
Or8s8 |
G |
A |
15: 98,354,614 (GRCm39) |
C141Y |
probably damaging |
Het |
Polr3d |
A |
C |
14: 70,678,755 (GRCm39) |
M117R |
possibly damaging |
Het |
Ppp5c |
T |
C |
7: 16,742,628 (GRCm39) |
I237V |
probably benign |
Het |
Prrc2c |
G |
A |
1: 162,504,945 (GRCm39) |
T2632M |
probably damaging |
Het |
Ptprg |
C |
A |
14: 12,213,697 (GRCm38) |
Q1022K |
probably damaging |
Het |
Pus10 |
T |
A |
11: 23,675,542 (GRCm39) |
H471Q |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,689,174 (GRCm39) |
V1928A |
probably damaging |
Het |
Rbpms2 |
CACT |
CACTACT |
9: 65,558,947 (GRCm39) |
|
probably benign |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
T |
G |
7: 5,113,357 (GRCm39) |
T269P |
probably benign |
Het |
Rgs10 |
A |
G |
7: 128,004,946 (GRCm39) |
V72A |
probably damaging |
Het |
Rsph1 |
T |
C |
17: 31,474,190 (GRCm39) |
N289S |
probably benign |
Het |
Sbk2 |
T |
C |
7: 4,966,121 (GRCm39) |
D21G |
probably benign |
Het |
Shbg |
A |
T |
11: 69,507,983 (GRCm39) |
D127E |
possibly damaging |
Het |
Ssh2 |
G |
A |
11: 77,344,850 (GRCm39) |
G945D |
possibly damaging |
Het |
Sstr3 |
A |
T |
15: 78,424,473 (GRCm39) |
D91E |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,101,713 (GRCm39) |
A669E |
probably benign |
Het |
Traf3 |
A |
G |
12: 111,208,907 (GRCm39) |
I109V |
probably benign |
Het |
Ube2j1 |
A |
G |
4: 33,049,886 (GRCm39) |
T295A |
probably damaging |
Het |
Usp46 |
A |
G |
5: 74,163,828 (GRCm39) |
V276A |
probably benign |
Het |
Vmn1r200 |
T |
C |
13: 22,579,640 (GRCm39) |
S139P |
possibly damaging |
Het |
Ydjc |
G |
A |
16: 16,965,663 (GRCm39) |
V143M |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,652,330 (GRCm39) |
E29G |
probably benign |
Het |
Zfp292 |
A |
G |
4: 34,808,935 (GRCm39) |
S1370P |
probably damaging |
Het |
Zfp763 |
C |
T |
17: 33,238,591 (GRCm39) |
D185N |
probably damaging |
Het |
Zfp827 |
A |
T |
8: 79,787,202 (GRCm39) |
N123Y |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,698,442 (GRCm39) |
I89N |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,080,583 (GRCm39) |
L419P |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCTTTGCACCTGTTATGAGAGGG -3'
(R):5'- CATAAGCAGTGATGCTGAGGGAACC -3'
Sequencing Primer
(F):5'- ACTGATGCCCTTCTAGCCAG -3'
(R):5'- GCAGATGTCCTAGACAGTGC -3'
|
Posted On |
2014-05-14 |