Incidental Mutation 'R9671:Spag16'
ID |
728025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R9671 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 69883495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 75
(H75N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
AlphaFold |
Q8K450 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065425
AA Change: H75N
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: H75N
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 |
possibly damaging
Transcript: ENSMUST00000113940
AA Change: H75N
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: H75N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,055,948 (GRCm39) |
L228* |
probably null |
Het |
Acsf2 |
T |
C |
11: 94,460,802 (GRCm39) |
D368G |
probably benign |
Het |
Adat2 |
T |
A |
10: 13,438,452 (GRCm39) |
N177K |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,760,795 (GRCm39) |
R830M |
probably damaging |
Het |
Apoh |
G |
A |
11: 108,286,792 (GRCm39) |
W72* |
probably null |
Het |
Bcl2l12 |
G |
T |
7: 44,642,301 (GRCm39) |
P195Q |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,596,282 (GRCm39) |
M470V |
probably benign |
Het |
Ccdc188 |
A |
T |
16: 18,036,268 (GRCm39) |
R79* |
probably null |
Het |
Cd34 |
T |
A |
1: 194,641,501 (GRCm39) |
M309K |
probably damaging |
Het |
Clec4a2 |
A |
T |
6: 123,101,942 (GRCm39) |
K32N |
possibly damaging |
Het |
Csmd3 |
G |
T |
15: 47,845,299 (GRCm39) |
P88H |
|
Het |
Def6 |
A |
G |
17: 28,438,755 (GRCm39) |
S154G |
probably benign |
Het |
Dot1l |
T |
C |
10: 80,620,613 (GRCm39) |
L530P |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,951,014 (GRCm39) |
|
probably null |
Het |
Fat3 |
G |
A |
9: 16,286,871 (GRCm39) |
A884V |
possibly damaging |
Het |
Frem3 |
C |
A |
8: 81,339,134 (GRCm39) |
H476N |
probably benign |
Het |
Gm3404 |
T |
C |
5: 146,463,031 (GRCm39) |
V71A |
probably benign |
Het |
Hnf4g |
T |
G |
3: 3,703,273 (GRCm39) |
S53R |
probably benign |
Het |
Ighv13-2 |
T |
C |
12: 114,321,796 (GRCm39) |
N15D |
probably benign |
Het |
Jak1 |
T |
C |
4: 101,034,926 (GRCm39) |
K339E |
possibly damaging |
Het |
Klhl35 |
C |
G |
7: 99,117,702 (GRCm39) |
P82R |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,743 (GRCm39) |
V301E |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,901,089 (GRCm39) |
N930I |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,603,217 (GRCm39) |
|
probably null |
Het |
Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,086,908 (GRCm39) |
H852R |
probably damaging |
Het |
Or51a6 |
A |
T |
7: 102,604,633 (GRCm39) |
H58Q |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,637,256 (GRCm39) |
D623G |
probably damaging |
Het |
Pramel14 |
A |
C |
4: 143,719,687 (GRCm39) |
I226S |
probably benign |
Het |
Rfxank |
T |
C |
8: 70,588,198 (GRCm39) |
T118A |
probably benign |
Het |
Rxrb |
T |
A |
17: 34,252,020 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
G |
A |
11: 4,025,486 (GRCm39) |
V337M |
probably damaging |
Het |
Sema3e |
A |
G |
5: 14,212,217 (GRCm39) |
T98A |
probably benign |
Het |
Ska1 |
A |
T |
18: 74,333,010 (GRCm39) |
M136K |
probably damaging |
Het |
Slc19a3 |
T |
C |
1: 83,000,297 (GRCm39) |
D240G |
probably benign |
Het |
Snph |
T |
C |
2: 151,436,331 (GRCm39) |
Y199C |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,943,077 (GRCm39) |
I933N |
possibly damaging |
Het |
Spice1 |
C |
T |
16: 44,199,671 (GRCm39) |
R708C |
probably benign |
Het |
Tet3 |
C |
A |
6: 83,381,136 (GRCm39) |
S344I |
possibly damaging |
Het |
Trav5-4 |
A |
G |
14: 53,941,816 (GRCm39) |
E63G |
possibly damaging |
Het |
Trp73 |
G |
A |
4: 154,148,403 (GRCm39) |
P337L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,778,359 (GRCm39) |
F1343L |
unknown |
Het |
Vipas39 |
T |
C |
12: 87,292,985 (GRCm39) |
H320R |
probably benign |
Het |
Vmn2r4 |
T |
C |
3: 64,317,271 (GRCm39) |
I156V |
probably benign |
Het |
Wdr81 |
T |
C |
11: 75,345,189 (GRCm39) |
D26G |
probably damaging |
Het |
Zscan4d |
A |
T |
7: 10,898,945 (GRCm39) |
F111I |
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 |
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 |
R9728:Spag16
|
UTSW |
1 |
69,962,842 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAACTAAACATAGTTTGAAGTACCG -3'
(R):5'- TAGTTGTTGGAAACTCATGTAAGAG -3'
Sequencing Primer
(F):5'- ACATAGTTTGAAGTACCGTTGGATG -3'
(R):5'- GCTAAAGCTCGCTTTAAGTGG -3'
|
Posted On |
2022-10-06 |