Incidental Mutation 'IGL02117:Spag16'
ID |
280422 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
IGL02117
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69909479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 192
(H192L)
|
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: H192L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: H192L
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: H192L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: H192L
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
A |
2: 151,315,466 (GRCm39) |
M71L |
probably benign |
Het |
Abcb11 |
A |
G |
2: 69,154,169 (GRCm39) |
|
probably benign |
Het |
Ago4 |
T |
C |
4: 126,410,645 (GRCm39) |
T249A |
probably benign |
Het |
Ahr |
A |
T |
12: 35,562,922 (GRCm39) |
C92* |
probably null |
Het |
Arhgap17 |
G |
A |
7: 122,885,996 (GRCm39) |
|
probably benign |
Het |
Arid1a |
G |
T |
4: 133,420,126 (GRCm39) |
T992K |
unknown |
Het |
Camk2a |
A |
G |
18: 61,111,061 (GRCm39) |
I83M |
probably damaging |
Het |
Ccdc154 |
T |
C |
17: 25,386,792 (GRCm39) |
|
probably null |
Het |
Chtf18 |
T |
C |
17: 25,941,177 (GRCm39) |
H607R |
possibly damaging |
Het |
Col25a1 |
T |
C |
3: 130,313,422 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
C |
T |
1: 24,276,574 (GRCm39) |
Q530* |
probably null |
Het |
Cryl1 |
G |
T |
14: 57,523,904 (GRCm39) |
D219E |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,300,781 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
A |
17: 46,851,301 (GRCm39) |
R373L |
probably benign |
Het |
Exo1 |
A |
G |
1: 175,721,309 (GRCm39) |
Y316C |
possibly damaging |
Het |
Fam114a1 |
G |
A |
5: 65,187,465 (GRCm39) |
V408M |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,347,185 (GRCm39) |
S4792C |
possibly damaging |
Het |
Hps5 |
A |
G |
7: 46,432,940 (GRCm39) |
F260S |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,155,477 (GRCm39) |
S339P |
probably benign |
Het |
Ist1 |
A |
T |
8: 110,405,584 (GRCm39) |
L152Q |
probably damaging |
Het |
Marco |
A |
G |
1: 120,418,683 (GRCm39) |
V190A |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,709,364 (GRCm39) |
V1711A |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,791,644 (GRCm39) |
Y179C |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,742 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
G |
T |
7: 47,671,371 (GRCm39) |
C125* |
probably null |
Het |
Msh6 |
A |
G |
17: 88,298,234 (GRCm39) |
|
probably benign |
Het |
Myot |
C |
A |
18: 44,488,177 (GRCm39) |
R441S |
probably benign |
Het |
Or11g7 |
A |
G |
14: 50,691,399 (GRCm39) |
R297G |
possibly damaging |
Het |
Paf1 |
A |
G |
7: 28,098,115 (GRCm39) |
|
probably benign |
Het |
Pde11a |
A |
G |
2: 75,821,606 (GRCm39) |
L891P |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,596,460 (GRCm39) |
I135N |
probably damaging |
Het |
Rap1gap |
C |
T |
4: 137,454,355 (GRCm39) |
T646M |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,088,087 (GRCm39) |
D229G |
possibly damaging |
Het |
Rhobtb3 |
C |
T |
13: 76,025,547 (GRCm39) |
S523N |
probably damaging |
Het |
Setd7 |
A |
T |
3: 51,428,826 (GRCm39) |
Y335N |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Socs4 |
T |
C |
14: 47,528,264 (GRCm39) |
Y400H |
probably damaging |
Het |
Ssh1 |
A |
T |
5: 114,084,541 (GRCm39) |
C566* |
probably null |
Het |
Stap1 |
T |
G |
5: 86,234,552 (GRCm39) |
I98S |
possibly damaging |
Het |
Tgs1 |
C |
T |
4: 3,585,836 (GRCm39) |
H238Y |
probably damaging |
Het |
Tifab |
T |
C |
13: 56,324,275 (GRCm39) |
Y56C |
probably benign |
Het |
Tssk2 |
A |
G |
16: 17,717,653 (GRCm39) |
E352G |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,049,874 (GRCm39) |
V625D |
probably benign |
Het |
Wbp1l |
T |
C |
19: 46,632,876 (GRCm39) |
Y75H |
probably benign |
Het |
Wnt5a |
T |
C |
14: 28,228,077 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-04-16 |