Incidental Mutation 'R5834:Spag16'
ID |
449433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
044055-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R5834 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69962873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 340
(M340K)
|
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: M340K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: M340K
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: 98.8%
- 20x: 96.7%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,227,974 (GRCm39) |
|
probably null |
Het |
Adamts20 |
A |
C |
15: 94,251,465 (GRCm39) |
S441A |
probably damaging |
Het |
Aen |
T |
A |
7: 78,557,049 (GRCm39) |
M299K |
probably damaging |
Het |
Akap3 |
T |
C |
6: 126,842,796 (GRCm39) |
S472P |
probably benign |
Het |
Ank3 |
T |
G |
10: 69,658,087 (GRCm39) |
V158G |
probably damaging |
Het |
Arfgap1 |
A |
G |
2: 180,622,955 (GRCm39) |
D324G |
probably benign |
Het |
Aste1 |
A |
T |
9: 105,280,614 (GRCm39) |
R448S |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,308,366 (GRCm39) |
L55Q |
probably benign |
Het |
C1qtnf9 |
G |
A |
14: 61,016,899 (GRCm39) |
G143D |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,208,126 (GRCm39) |
V1122A |
probably benign |
Het |
Cbl |
T |
C |
9: 44,145,076 (GRCm39) |
H37R |
probably damaging |
Het |
Cfap61 |
A |
C |
2: 145,971,069 (GRCm39) |
D893A |
probably benign |
Het |
Chd2 |
T |
A |
7: 73,128,463 (GRCm39) |
I841F |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,723,792 (GRCm39) |
T622A |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,896,391 (GRCm39) |
Y1028H |
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,030,511 (GRCm39) |
I448V |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,083,289 (GRCm39) |
|
probably null |
Het |
Dcaf13 |
C |
T |
15: 39,007,037 (GRCm39) |
R324* |
probably null |
Het |
Dhx37 |
C |
A |
5: 125,502,794 (GRCm39) |
R42L |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,365,662 (GRCm39) |
V450E |
probably damaging |
Het |
Ednrb |
A |
G |
14: 104,058,313 (GRCm39) |
L330P |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,785,170 (GRCm39) |
H778Q |
probably damaging |
Het |
Evx1 |
T |
A |
6: 52,292,975 (GRCm39) |
I227N |
probably damaging |
Het |
G3bp1 |
T |
A |
11: 55,388,766 (GRCm39) |
V326E |
probably benign |
Het |
Gata2 |
T |
C |
6: 88,177,729 (GRCm39) |
V253A |
probably benign |
Het |
Gbp2 |
A |
G |
3: 142,339,138 (GRCm39) |
N397D |
probably damaging |
Het |
Gm14401 |
C |
A |
2: 176,778,696 (GRCm39) |
H261N |
probably benign |
Het |
Hacd4 |
A |
T |
4: 88,316,389 (GRCm39) |
H243Q |
probably benign |
Het |
Hsd3b1 |
C |
A |
3: 98,760,255 (GRCm39) |
K245N |
possibly damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Ift27 |
A |
T |
15: 78,049,443 (GRCm39) |
C86S |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Irs3 |
T |
A |
5: 137,642,821 (GRCm39) |
S206C |
probably damaging |
Het |
Lefty2 |
C |
T |
1: 180,720,716 (GRCm39) |
|
probably benign |
Het |
Mark3 |
A |
G |
12: 111,590,921 (GRCm39) |
I162V |
probably damaging |
Het |
Matcap1 |
G |
A |
8: 106,008,755 (GRCm39) |
Q421* |
probably null |
Het |
Mefv |
A |
C |
16: 3,533,910 (GRCm39) |
D120E |
probably damaging |
Het |
Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,710,953 (GRCm39) |
I45V |
probably benign |
Het |
Mtor |
A |
G |
4: 148,620,993 (GRCm39) |
N1797S |
possibly damaging |
Het |
Nav1 |
A |
C |
1: 135,460,144 (GRCm39) |
M393R |
probably benign |
Het |
Nod2 |
T |
C |
8: 89,391,267 (GRCm39) |
S510P |
possibly damaging |
Het |
Nos2 |
C |
T |
11: 78,819,405 (GRCm39) |
T39I |
probably benign |
Het |
Or2h1b |
A |
T |
17: 37,462,690 (GRCm39) |
Y58N |
probably damaging |
Het |
Or5p54 |
T |
A |
7: 107,554,113 (GRCm39) |
H88Q |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,878,970 (GRCm39) |
S842G |
possibly damaging |
Het |
Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
Plaa |
A |
C |
4: 94,471,706 (GRCm39) |
V10G |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,053,659 (GRCm39) |
|
probably benign |
Het |
Ptprt |
T |
C |
2: 161,402,189 (GRCm39) |
Y994C |
probably damaging |
Het |
Ripply2 |
T |
A |
9: 86,897,943 (GRCm39) |
W37R |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,395,839 (GRCm39) |
D1227G |
probably damaging |
Het |
Scoc |
C |
T |
8: 84,164,260 (GRCm39) |
D10N |
possibly damaging |
Het |
Sdk2 |
A |
T |
11: 113,745,099 (GRCm39) |
I732N |
probably damaging |
Het |
Six2 |
T |
C |
17: 85,995,092 (GRCm39) |
K97E |
probably damaging |
Het |
Slit2 |
A |
C |
5: 48,416,989 (GRCm39) |
N1014H |
probably damaging |
Het |
Smc1b |
A |
C |
15: 84,973,866 (GRCm39) |
L930R |
probably damaging |
Het |
Spata31 |
C |
T |
13: 65,070,480 (GRCm39) |
S876L |
probably benign |
Het |
Spen |
A |
G |
4: 141,199,154 (GRCm39) |
Y3135H |
possibly damaging |
Het |
Spta1 |
A |
T |
1: 174,012,363 (GRCm39) |
|
probably null |
Het |
Stk3 |
G |
A |
15: 34,959,164 (GRCm39) |
T336I |
probably damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,876 (GRCm39) |
T62S |
probably benign |
Het |
Tmprss11d |
A |
G |
5: 86,454,169 (GRCm39) |
M212T |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,923,971 (GRCm39) |
L738P |
probably damaging |
Het |
Ttll8 |
A |
G |
15: 88,801,449 (GRCm39) |
V413A |
possibly damaging |
Het |
Usb1 |
G |
A |
8: 96,060,161 (GRCm39) |
|
probably benign |
Het |
Vmn1r238 |
T |
C |
18: 3,123,168 (GRCm39) |
E82G |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,529,599 (GRCm39) |
T168A |
possibly damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,765,932 (GRCm39) |
P13H |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,030,712 (GRCm39) |
L194P |
probably damaging |
Het |
Zfhx2 |
G |
A |
14: 55,310,787 (GRCm39) |
Q636* |
probably null |
Het |
Zfyve26 |
A |
G |
12: 79,313,311 (GRCm39) |
Y25H |
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 |
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'- CCAGGAACTCAAAAGCCAAAGTTTG -3'
(R):5'- ATTTGACTCATGCTGATGGAGAC -3'
Sequencing Primer
(F):5'- CCTTTAAAACATTTTCTCCATGCAG -3'
(R):5'- ACAAGAGGTCTTCGGTGGTC -3'
|
Posted On |
2016-12-20 |