Incidental Mutation 'R9660:Spag16'
ID |
727484 |
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 # |
R9660 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69962842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 330
(R330G)
|
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: R330G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: R330G
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,851,478 (GRCm39) |
M819V |
probably benign |
Het |
Abca5 |
T |
A |
11: 110,168,248 (GRCm39) |
T1461S |
possibly damaging |
Het |
Actl6b |
C |
T |
5: 137,562,766 (GRCm39) |
R161C |
probably damaging |
Het |
Aoc3 |
C |
G |
11: 101,221,914 (GRCm39) |
P50R |
possibly damaging |
Het |
Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
Cdh11 |
C |
T |
8: 103,384,879 (GRCm39) |
G399S |
possibly damaging |
Het |
Chrna10 |
G |
T |
7: 101,761,416 (GRCm39) |
L392I |
probably benign |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,620,627 (GRCm39) |
V453A |
probably benign |
Het |
Dpp9 |
A |
G |
17: 56,494,458 (GRCm39) |
Y834H |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,262,285 (GRCm39) |
I598T |
possibly damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,153 (GRCm39) |
R126C |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,806,426 (GRCm39) |
M196K |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
Gga2 |
A |
T |
7: 121,606,494 (GRCm39) |
M157K |
possibly damaging |
Het |
Gna11 |
T |
C |
10: 81,370,918 (GRCm39) |
N106S |
probably benign |
Het |
Gtf3c1 |
A |
C |
7: 125,262,199 (GRCm39) |
S1116A |
possibly damaging |
Het |
Gucy2d |
C |
A |
7: 98,099,064 (GRCm39) |
D294E |
probably damaging |
Het |
Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,683,617 (GRCm39) |
Y292H |
probably damaging |
Het |
Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,154,184 (GRCm39) |
S1088P |
probably damaging |
Het |
Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
Necab2 |
T |
C |
8: 120,189,403 (GRCm39) |
V191A |
possibly damaging |
Het |
Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
Nr4a3 |
A |
G |
4: 48,051,353 (GRCm39) |
T36A |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,105,402 (GRCm39) |
T1517A |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or4a27 |
T |
C |
2: 88,559,142 (GRCm39) |
K267R |
probably damaging |
Het |
Or4g17 |
T |
G |
2: 111,210,239 (GRCm39) |
I298R |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,872 (GRCm39) |
Y120C |
probably damaging |
Het |
Or51h7 |
C |
T |
7: 102,591,259 (GRCm39) |
C175Y |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,487,592 (GRCm39) |
S1804T |
probably damaging |
Het |
Pdcd11 |
T |
A |
19: 47,082,191 (GRCm39) |
V35D |
possibly damaging |
Het |
Pde10a |
C |
A |
17: 9,170,370 (GRCm39) |
T347K |
probably damaging |
Het |
Rcc1l |
A |
G |
5: 134,182,977 (GRCm39) |
Y432H |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
Ripor3 |
T |
A |
2: 167,831,646 (GRCm39) |
D385V |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,178 (GRCm39) |
K330E |
probably damaging |
Het |
Ryr3 |
T |
G |
2: 112,664,074 (GRCm39) |
D1759A |
probably benign |
Het |
Scube3 |
A |
G |
17: 28,371,414 (GRCm39) |
D43G |
probably benign |
Het |
Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc1a6 |
T |
A |
10: 78,648,698 (GRCm39) |
M473K |
probably benign |
Het |
Spag6 |
C |
A |
2: 18,704,047 (GRCm39) |
Q32K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
Togaram2 |
T |
A |
17: 72,024,365 (GRCm39) |
S850T |
probably damaging |
Het |
Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
Trpm2 |
T |
A |
10: 77,766,389 (GRCm39) |
I877L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,599,152 (GRCm39) |
I19286V |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
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 |
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 |
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'- TTTCAAAGCTCAAATGCCTGTG -3'
(R):5'- TGAGTGTCCCTGTACTTTGC -3'
Sequencing Primer
(F):5'- TTGTTGACCAGGAACTCAAAAGC -3'
(R):5'- ACTTTGCTCTCTTGTGCTAATGGAG -3'
|
Posted On |
2022-10-06 |