Incidental Mutation 'R0653:Spag16'
ID |
62352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
038838-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R0653 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 69909504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 200
(K200N)
|
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: K200N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: K200N
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: K200N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: K200N
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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
A |
11: 72,066,371 (GRCm39) |
R612* |
probably null |
Het |
Adgra1 |
A |
G |
7: 139,456,063 (GRCm39) |
T564A |
probably damaging |
Het |
Akr1c18 |
A |
T |
13: 4,195,307 (GRCm39) |
D50E |
probably damaging |
Het |
Atg9a |
C |
A |
1: 75,166,972 (GRCm39) |
L26F |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,893,343 (GRCm39) |
T899A |
probably damaging |
Het |
Atxn2 |
A |
G |
5: 121,910,841 (GRCm39) |
E358G |
probably damaging |
Het |
Bmp3 |
A |
G |
5: 99,019,970 (GRCm39) |
Y131C |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,043,484 (GRCm39) |
E360G |
possibly damaging |
Het |
Casd1 |
A |
T |
6: 4,608,075 (GRCm39) |
I76L |
probably benign |
Het |
Casq2 |
G |
A |
3: 102,020,482 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
T |
A |
1: 182,575,129 (GRCm39) |
Q520L |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,392,183 (GRCm39) |
K550E |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,262,418 (GRCm39) |
S521P |
probably damaging |
Het |
Clstn2 |
A |
T |
9: 97,340,257 (GRCm39) |
V705E |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,225,789 (GRCm39) |
Y792H |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,950,995 (GRCm39) |
C73S |
probably benign |
Het |
Egflam |
A |
G |
15: 7,279,509 (GRCm39) |
|
probably null |
Het |
Farp1 |
T |
C |
14: 121,471,258 (GRCm39) |
|
probably null |
Het |
Fos |
A |
G |
12: 85,522,790 (GRCm39) |
E234G |
probably benign |
Het |
Gtf3c5 |
A |
T |
2: 28,468,008 (GRCm39) |
M151K |
probably benign |
Het |
Hgs |
G |
A |
11: 120,359,904 (GRCm39) |
R36H |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,937,653 (GRCm39) |
Q279* |
probably null |
Het |
Lysmd4 |
T |
A |
7: 66,875,788 (GRCm39) |
D150E |
probably benign |
Het |
Mex3b |
A |
G |
7: 82,518,242 (GRCm39) |
K186E |
probably damaging |
Het |
Myo9a |
A |
C |
9: 59,832,274 (GRCm39) |
Q2601P |
probably damaging |
Het |
Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
Nr5a2 |
A |
G |
1: 136,876,543 (GRCm39) |
V40A |
probably benign |
Het |
Obscn |
C |
A |
11: 58,898,534 (GRCm39) |
|
probably benign |
Het |
Or2y1d |
C |
A |
11: 49,322,078 (GRCm39) |
Y258* |
probably null |
Het |
Or4c114 |
A |
G |
2: 88,904,808 (GRCm39) |
I209T |
possibly damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,934 (GRCm39) |
N84S |
probably benign |
Het |
Pclo |
T |
A |
5: 14,732,269 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,118,228 (GRCm39) |
I2939V |
probably benign |
Het |
Rtn4 |
A |
T |
11: 29,657,256 (GRCm39) |
K470I |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,524,955 (GRCm39) |
I1050T |
possibly damaging |
Het |
Scaf11 |
G |
T |
15: 96,316,522 (GRCm39) |
S17* |
probably null |
Het |
Scn9a |
A |
T |
2: 66,363,721 (GRCm39) |
N841K |
probably damaging |
Het |
Slc35e3 |
C |
A |
10: 117,576,711 (GRCm39) |
E207* |
probably null |
Het |
Slc6a20b |
A |
G |
9: 123,426,377 (GRCm39) |
F503L |
probably damaging |
Het |
Supt6 |
G |
T |
11: 78,116,841 (GRCm39) |
Q604K |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,469,550 (GRCm39) |
|
probably null |
Het |
Tjp1 |
A |
T |
7: 64,964,503 (GRCm39) |
H889Q |
probably damaging |
Het |
Tmed6 |
A |
T |
8: 107,792,283 (GRCm39) |
|
probably null |
Het |
Tsen54 |
A |
T |
11: 115,705,887 (GRCm39) |
E68V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,559,878 (GRCm39) |
S21181P |
probably damaging |
Het |
Ube3d |
A |
T |
9: 86,334,043 (GRCm39) |
M33K |
possibly damaging |
Het |
Umodl1 |
C |
A |
17: 31,203,002 (GRCm39) |
Q452K |
probably benign |
Het |
Wif1 |
G |
T |
10: 120,935,704 (GRCm39) |
A354S |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,210,492 (GRCm39) |
F1788L |
possibly damaging |
Het |
Zfhx3 |
A |
T |
8: 109,673,440 (GRCm39) |
I1497F |
possibly damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp30 |
G |
A |
7: 29,492,178 (GRCm39) |
R225Q |
probably damaging |
Het |
Zfp87 |
T |
C |
13: 74,520,190 (GRCm39) |
E296G |
probably damaging |
Het |
Zfp874b |
A |
G |
13: 67,623,052 (GRCm39) |
F86S |
possibly damaging |
Het |
Zfyve19 |
A |
G |
2: 119,041,696 (GRCm39) |
S88G |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGATGTAGAGTAAGACCCCGTCC -3'
(R):5'- TGCTCATACCAGACTACCAAGGCTG -3'
Sequencing Primer
(F):5'- CAGCAGAGTACCATATCTTCTATGC -3'
(R):5'- GCTGTGTCTTGAATGACAAAGC -3'
|
Posted On |
2013-07-30 |