Incidental Mutation 'IGL02245:Spag16'
ID |
286151 |
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: 0.140)
|
Stock # |
IGL02245
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69897661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 137
(D137G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
AlphaFold |
Q8K450 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065425
AA Change: D137G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: D137G
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: D137G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: D137G
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,381,772 (GRCm39) |
I1398V |
probably benign |
Het |
Abca5 |
G |
A |
11: 110,188,995 (GRCm39) |
Q821* |
probably null |
Het |
Bcl9 |
A |
T |
3: 97,116,009 (GRCm39) |
L895Q |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,844,357 (GRCm39) |
D41G |
probably damaging |
Het |
Daxx |
A |
G |
17: 34,131,351 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
A |
G |
15: 95,522,628 (GRCm39) |
Y360H |
probably damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,607,321 (GRCm39) |
T47A |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,040,174 (GRCm39) |
V512A |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,090,842 (GRCm39) |
D254G |
probably benign |
Het |
Gtpbp1 |
G |
T |
15: 79,575,127 (GRCm39) |
R7L |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,706,201 (GRCm39) |
I500N |
probably benign |
Het |
H2ac6 |
A |
T |
13: 23,867,783 (GRCm39) |
Y40N |
probably damaging |
Het |
H2ac6 |
G |
T |
13: 23,867,784 (GRCm39) |
N39K |
possibly damaging |
Het |
Hormad2 |
T |
C |
11: 4,358,580 (GRCm39) |
|
probably benign |
Het |
Impg2 |
A |
G |
16: 56,089,445 (GRCm39) |
Q1130R |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,150,903 (GRCm39) |
D836E |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,427,797 (GRCm39) |
T456S |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
Mre11a |
C |
T |
9: 14,726,572 (GRCm39) |
|
probably benign |
Het |
Myh1 |
A |
C |
11: 67,102,313 (GRCm39) |
E868A |
possibly damaging |
Het |
Nlrp4e |
T |
G |
7: 23,020,300 (GRCm39) |
S262R |
probably damaging |
Het |
Nlrp9a |
C |
T |
7: 26,257,318 (GRCm39) |
T223I |
probably benign |
Het |
Nosip |
A |
G |
7: 44,723,466 (GRCm39) |
D44G |
probably benign |
Het |
Nr6a1 |
C |
T |
2: 38,630,565 (GRCm39) |
M217I |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,649,601 (GRCm39) |
T1111A |
probably benign |
Het |
Or6c6c |
T |
A |
10: 129,541,608 (GRCm39) |
I287N |
probably damaging |
Het |
Pms1 |
A |
G |
1: 53,246,519 (GRCm39) |
L340P |
probably damaging |
Het |
Prmt7 |
T |
C |
8: 106,963,937 (GRCm39) |
V277A |
probably benign |
Het |
Pxmp4 |
T |
C |
2: 154,429,870 (GRCm39) |
Y173C |
probably damaging |
Het |
Rbm11 |
G |
T |
16: 75,389,896 (GRCm39) |
V21L |
possibly damaging |
Het |
Rims1 |
A |
G |
1: 22,416,712 (GRCm39) |
S1123P |
probably damaging |
Het |
Rnf220 |
C |
T |
4: 117,156,734 (GRCm39) |
|
probably benign |
Het |
Rnf41 |
T |
G |
10: 128,273,196 (GRCm39) |
*123G |
probably null |
Het |
Samhd1 |
C |
T |
2: 156,952,475 (GRCm39) |
D426N |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,501,218 (GRCm39) |
W189R |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,055,150 (GRCm39) |
F265L |
probably damaging |
Het |
Srsf12 |
G |
A |
4: 33,209,103 (GRCm39) |
|
probably benign |
Het |
Suclg2 |
A |
G |
6: 95,572,722 (GRCm39) |
I81T |
possibly damaging |
Het |
Tmc1 |
C |
T |
19: 20,776,556 (GRCm39) |
R601H |
probably damaging |
Het |
Trim33 |
T |
C |
3: 103,254,086 (GRCm39) |
|
probably null |
Het |
Vit |
A |
G |
17: 78,932,480 (GRCm39) |
D529G |
probably damaging |
Het |
Wbp1l |
C |
T |
19: 46,643,057 (GRCm39) |
H353Y |
possibly damaging |
Het |
Wdr70 |
A |
T |
15: 8,075,965 (GRCm39) |
V170D |
possibly damaging |
Het |
Ythdc2 |
T |
A |
18: 44,995,751 (GRCm39) |
I947N |
possibly damaging |
Het |
Zfp280b |
T |
C |
10: 75,875,197 (GRCm39) |
S359P |
probably benign |
Het |
Zfp936 |
T |
C |
7: 42,836,722 (GRCm39) |
|
probably null |
Het |
Zscan4d |
T |
A |
7: 10,896,716 (GRCm39) |
Y218F |
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 |
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 |