Incidental Mutation 'R9077:Spag16'
| ID |
716053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
068898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R9077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 70532930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Alkbh3 |
A |
G |
2: 93,811,925 (GRCm39) |
V235A |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,706,721 (GRCm39) |
I982V |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,500,899 (GRCm39) |
D1117G |
possibly damaging |
Het |
| Arhgap31 |
G |
T |
16: 38,422,730 (GRCm39) |
A1112D |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,824 (GRCm39) |
C27R |
unknown |
Het |
| Bzw1 |
T |
A |
1: 58,438,190 (GRCm39) |
M90K |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,068,277 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,827,511 (GRCm39) |
I459V |
probably benign |
Het |
| Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,516,431 (GRCm39) |
D173G |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,121,029 (GRCm39) |
C1488* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,741,218 (GRCm39) |
K13E |
unknown |
Het |
| Eif3f |
A |
G |
7: 108,539,425 (GRCm39) |
M232V |
probably benign |
Het |
| Gk5 |
C |
A |
9: 96,001,634 (GRCm39) |
T44K |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,763,217 (GRCm39) |
F260S |
probably damaging |
Het |
| Glyctk |
C |
A |
9: 106,032,522 (GRCm39) |
R497L |
probably benign |
Het |
| Gm10153 |
G |
T |
7: 141,743,383 (GRCm39) |
C248* |
probably null |
Het |
| Hand2 |
A |
G |
8: 57,776,836 (GRCm39) |
K199E |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,428,247 (GRCm39) |
C795S |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,670,361 (GRCm39) |
I342M |
probably benign |
Het |
| Itm2b |
G |
T |
14: 73,605,865 (GRCm39) |
D40E |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,927,552 (GRCm39) |
T371A |
probably damaging |
Het |
| Lctl |
C |
A |
9: 64,039,241 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,591,747 (GRCm39) |
P827S |
|
Het |
| Lyst |
T |
C |
13: 13,857,693 (GRCm39) |
I2494T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,226,760 (GRCm39) |
N510S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,469,974 (GRCm39) |
D1308G |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,548 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
G |
A |
7: 139,980,809 (GRCm39) |
P50L |
probably benign |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or56b1 |
A |
G |
7: 104,285,618 (GRCm39) |
T246A |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,148,856 (GRCm39) |
Y490C |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,160,772 (GRCm39) |
E295G |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,414 (GRCm39) |
V23A |
probably damaging |
Het |
| Phactr3 |
A |
T |
2: 177,974,758 (GRCm39) |
|
probably benign |
Het |
| Pip |
G |
A |
6: 41,828,388 (GRCm39) |
S74N |
probably damaging |
Het |
| Plau |
G |
A |
14: 20,889,949 (GRCm39) |
E265K |
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,807,865 (GRCm39) |
D230N |
probably damaging |
Het |
| Siglec15 |
A |
G |
18: 78,091,983 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Spta1 |
G |
T |
1: 174,045,170 (GRCm39) |
D1506Y |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,635,711 (GRCm39) |
Y305F |
probably benign |
Het |
| Tcstv7a |
T |
C |
13: 120,289,885 (GRCm39) |
M104V |
probably benign |
Het |
| Vmn1r83 |
G |
A |
7: 12,055,571 (GRCm39) |
T162M |
probably damaging |
Het |
| Vmn2r116 |
G |
T |
17: 23,604,956 (GRCm39) |
D90Y |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,364,608 (GRCm39) |
N304S |
probably benign |
Het |
| Wee1 |
G |
A |
7: 109,725,963 (GRCm39) |
V358I |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,401,468 (GRCm39) |
P4084S |
unknown |
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 |
|
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'- ACCATTACAAGTTCATAGGAGTCG -3'
(R):5'- GTTCATCAGGTGCCAATAGTGAAAC -3'
Sequencing Primer
(F):5'- CAAGTTCATAGGAGTCGAATTAAGTG -3'
(R):5'- TCAGGTGCCAATAGTGAAACAAAAC -3'
|
| Posted On |
2022-07-05 |
Incidental Mutation