Incidental Mutation 'R9160:Spag16'
ID |
695622 |
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 # |
R9160 (G1)
|
Quality Score |
225.009 |
Status
|
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (53/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
G |
A |
16: 20,379,246 (GRCm39) |
R704H |
possibly damaging |
Het |
Akap13 |
T |
C |
7: 75,385,526 (GRCm39) |
F533L |
possibly damaging |
Het |
Ank3 |
G |
A |
10: 69,838,304 (GRCm39) |
V1771I |
unknown |
Het |
Aspm |
T |
C |
1: 139,417,862 (GRCm39) |
L2911S |
probably damaging |
Het |
Atp2b4 |
T |
C |
1: 133,660,143 (GRCm39) |
I380V |
probably benign |
Het |
C2cd3 |
T |
A |
7: 100,075,236 (GRCm39) |
L739I |
|
Het |
Cacng6 |
T |
C |
7: 3,483,406 (GRCm39) |
S245P |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,469,916 (GRCm39) |
S1830G |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,641,538 (GRCm39) |
M660T |
probably benign |
Het |
Dnajc6 |
G |
A |
4: 101,470,258 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,857,962 (GRCm39) |
S1451P |
unknown |
Het |
Ehd4 |
A |
G |
2: 119,967,440 (GRCm39) |
V118A |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,206,953 (GRCm39) |
D139G |
probably damaging |
Het |
Fer1l6 |
G |
A |
15: 58,515,715 (GRCm39) |
E1601K |
possibly damaging |
Het |
Fermt3 |
A |
T |
19: 6,991,785 (GRCm39) |
L142Q |
probably damaging |
Het |
Gfral |
A |
T |
9: 76,104,372 (GRCm39) |
N213K |
possibly damaging |
Het |
Gria4 |
A |
G |
9: 4,424,412 (GRCm39) |
F818L |
probably damaging |
Het |
H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
Hoxd9 |
A |
G |
2: 74,529,761 (GRCm39) |
D339G |
unknown |
Het |
Hpn |
G |
T |
7: 30,808,402 (GRCm39) |
P78T |
probably benign |
Het |
Inpp4b |
T |
A |
8: 82,610,782 (GRCm39) |
V175E |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,276,099 (GRCm39) |
L736P |
probably damaging |
Het |
Klhl6 |
G |
T |
16: 19,775,772 (GRCm39) |
P262Q |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Mc5r |
A |
T |
18: 68,472,205 (GRCm39) |
Y188F |
probably damaging |
Het |
Mob1b |
T |
C |
5: 88,904,017 (GRCm39) |
S218P |
probably benign |
Het |
Mrgprb2 |
T |
C |
7: 48,201,982 (GRCm39) |
I248V |
possibly damaging |
Het |
Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
Or1e29 |
A |
T |
11: 73,667,881 (GRCm39) |
S91T |
probably benign |
Het |
Or2ah1 |
T |
A |
2: 85,653,318 (GRCm39) |
M1K |
probably null |
Het |
Or2o1 |
G |
T |
11: 49,051,261 (GRCm39) |
W140L |
probably damaging |
Het |
Or5j3 |
A |
T |
2: 86,128,330 (GRCm39) |
T57S |
probably benign |
Het |
Pcdhga8 |
T |
A |
18: 37,860,465 (GRCm39) |
I507N |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,087,933 (GRCm39) |
D868E |
probably benign |
Het |
Ptpn6 |
G |
C |
6: 124,705,135 (GRCm39) |
R264G |
possibly damaging |
Het |
Rnf10 |
T |
A |
5: 115,398,249 (GRCm39) |
M95L |
probably benign |
Het |
Rnf40 |
C |
T |
7: 127,190,993 (GRCm39) |
T326I |
probably damaging |
Het |
Rp1 |
G |
T |
1: 4,416,720 (GRCm39) |
T1464K |
probably benign |
Het |
Satb1 |
T |
C |
17: 52,047,053 (GRCm39) |
E723G |
probably benign |
Het |
Scgb3a2 |
T |
A |
18: 43,900,445 (GRCm39) |
|
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
A |
T |
19: 50,213,658 (GRCm39) |
C690S |
probably damaging |
Het |
Stk3 |
A |
G |
15: 35,099,611 (GRCm39) |
V107A |
probably damaging |
Het |
Tlr1 |
T |
A |
5: 65,083,653 (GRCm39) |
H308L |
probably benign |
Het |
Tmx2 |
A |
G |
2: 84,503,907 (GRCm39) |
F162S |
probably damaging |
Het |
Vmn2r57 |
C |
T |
7: 41,076,159 (GRCm39) |
S451N |
possibly damaging |
Het |
Zbtb49 |
T |
A |
5: 38,363,246 (GRCm39) |
I446F |
probably damaging |
Het |
Zdhhc17 |
A |
T |
10: 110,783,189 (GRCm39) |
I493N |
probably damaging |
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 |
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'- AATTGTTGACCAGGAACTCAAAAGC -3'
(R):5'- TTGACTCATGCTGATGGAGAC -3'
Sequencing Primer
(F):5'- CAGGAACTCAAAAGCCAAAGTTTG -3'
(R):5'- ACAAGAGGTCTTCGGTGGTC -3'
|
Posted On |
2022-01-20 |