Incidental Mutation 'R5032:Spag16'
ID |
391723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
042623-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R5032 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 69892511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 97
(N97K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000065425]
[ENSMUST00000113940]
[ENSMUST00000113940]
|
AlphaFold |
Q8K450 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065425
AA Change: N97K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: N97K
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: ENSMUST00000065425
AA Change: N97K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000069821 Gene: ENSMUSG00000053153 AA Change: N97K
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: N97K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: N97K
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 |
probably benign
Transcript: ENSMUST00000113940
AA Change: N97K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000109573 Gene: ENSMUSG00000053153 AA Change: N97K
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.0%
|
Validation Efficiency |
97% (77/79) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Actl9 |
A |
G |
17: 33,653,062 (GRCm39) |
N374S |
probably benign |
Het |
Adam34l |
T |
C |
8: 44,079,508 (GRCm39) |
N239D |
probably damaging |
Het |
Ahcyl2 |
T |
A |
6: 29,768,555 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,720,464 (GRCm39) |
M1501T |
probably benign |
Het |
Asb17 |
A |
T |
3: 153,550,175 (GRCm39) |
D69V |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,082,202 (GRCm39) |
Y877C |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,894,271 (GRCm39) |
Q64R |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,505,730 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
G |
T |
5: 16,564,068 (GRCm39) |
R893L |
probably damaging |
Het |
Ccdc138 |
C |
T |
10: 58,409,458 (GRCm39) |
R596C |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,288,628 (GRCm39) |
Y353C |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,400,330 (GRCm39) |
Y1015H |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,312,543 (GRCm39) |
Y339H |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,136,744 (GRCm39) |
W190R |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,167,798 (GRCm39) |
R1027H |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,593,326 (GRCm39) |
Q1198* |
probably null |
Het |
Ecel1 |
G |
A |
1: 87,081,975 (GRCm39) |
S246L |
probably damaging |
Het |
Fam228b |
T |
G |
12: 4,813,042 (GRCm39) |
R109S |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,799,245 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,939,159 (GRCm39) |
R814G |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,897,746 (GRCm39) |
K233E |
probably benign |
Het |
Gramd1c |
A |
G |
16: 43,811,026 (GRCm39) |
Y438H |
probably damaging |
Het |
Gsdmc |
A |
T |
15: 63,673,882 (GRCm39) |
D134E |
possibly damaging |
Het |
Gxylt2 |
A |
G |
6: 100,760,142 (GRCm39) |
I226V |
probably benign |
Het |
Hc |
T |
C |
2: 34,903,544 (GRCm39) |
I1037V |
probably benign |
Het |
Hspa4 |
T |
G |
11: 53,179,950 (GRCm39) |
R69S |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,829,354 (GRCm39) |
S508P |
probably damaging |
Het |
Krt7 |
G |
A |
15: 101,310,428 (GRCm39) |
R25H |
probably benign |
Het |
Lhfpl6 |
T |
A |
3: 52,950,854 (GRCm39) |
S43T |
possibly damaging |
Het |
Lrrc7 |
T |
A |
3: 157,887,217 (GRCm39) |
K394N |
possibly damaging |
Het |
Lypd4 |
A |
T |
7: 24,566,240 (GRCm39) |
L28Q |
probably damaging |
Het |
Mdc1 |
A |
G |
17: 36,161,481 (GRCm39) |
E798G |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,097,145 (GRCm39) |
|
probably null |
Het |
Mtg2 |
A |
T |
2: 179,725,183 (GRCm39) |
Q132L |
possibly damaging |
Het |
Myh1 |
G |
T |
11: 67,096,874 (GRCm39) |
E382* |
probably null |
Het |
Myo3a |
T |
C |
2: 22,287,413 (GRCm39) |
L175P |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,904,786 (GRCm39) |
F144L |
possibly damaging |
Het |
Nfrkb |
T |
A |
9: 31,300,351 (GRCm39) |
|
probably null |
Het |
Nmt2 |
C |
T |
2: 3,285,429 (GRCm39) |
P5L |
probably benign |
Het |
Nsmf |
T |
C |
2: 24,945,073 (GRCm39) |
|
probably null |
Het |
Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
Or5a1 |
T |
A |
19: 12,097,420 (GRCm39) |
I219F |
probably benign |
Het |
Pcdhgc3 |
T |
A |
18: 37,940,638 (GRCm39) |
N346K |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,190,911 (GRCm39) |
P2791S |
probably benign |
Het |
Pdia3 |
A |
G |
2: 121,244,620 (GRCm39) |
N11S |
probably benign |
Het |
Pik3c2g |
A |
T |
6: 139,841,928 (GRCm39) |
T778S |
probably benign |
Het |
Pik3ip1 |
T |
A |
11: 3,283,520 (GRCm39) |
I75N |
probably damaging |
Het |
Pla2g4d |
A |
T |
2: 120,112,176 (GRCm39) |
Y118* |
probably null |
Het |
Ppargc1b |
A |
G |
18: 61,440,336 (GRCm39) |
S845P |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,905,937 (GRCm39) |
L50* |
probably null |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pxdn |
G |
A |
12: 30,053,140 (GRCm39) |
V926I |
probably benign |
Het |
Rab11fip2 |
A |
T |
19: 59,925,799 (GRCm39) |
N139K |
probably damaging |
Het |
Rcn2 |
T |
A |
9: 55,960,300 (GRCm39) |
M189K |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,113,570 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
A |
3: 88,152,441 (GRCm39) |
G368C |
probably damaging |
Het |
Rnf214 |
A |
G |
9: 45,811,042 (GRCm39) |
|
probably null |
Het |
Sf3a3 |
T |
C |
4: 124,618,959 (GRCm39) |
S307P |
probably benign |
Het |
Slc6a18 |
T |
A |
13: 73,814,442 (GRCm39) |
Y494F |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,412,163 (GRCm39) |
V114A |
possibly damaging |
Het |
Urb1 |
G |
T |
16: 90,553,059 (GRCm39) |
P1901T |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,419,459 (GRCm39) |
T601A |
probably damaging |
Het |
Wdtc1 |
G |
T |
4: 133,036,162 (GRCm39) |
T126K |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,356,014 (GRCm39) |
Y3592H |
possibly damaging |
Het |
Xylt2 |
A |
T |
11: 94,560,842 (GRCm39) |
V232E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCACTAAATGAAGGGGTCC -3'
(R):5'- GCCCTCAGTACTGTAAAGTTCTTC -3'
Sequencing Primer
(F):5'- TGGTAACATTTCTCAGCTCTGTAG -3'
(R):5'- TGGAAGCAGTCCAGAGTT -3'
|
Posted On |
2016-06-06 |