Incidental Mutation 'R6131:Spag16'
ID |
501813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag16
|
Ensembl Gene |
ENSMUSG00000053153 |
Gene Name |
sperm associated antigen 16 |
Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
MMRRC Submission |
044278-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R6131 (G1)
|
Quality Score |
138.008 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 70764242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053922]
[ENSMUST00000065425]
[ENSMUST00000161937]
[ENSMUST00000162182]
|
AlphaFold |
Q8K450 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053922
|
SMART Domains |
Protein: ENSMUSP00000058142 Gene: ENSMUSG00000045648
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
VWC
|
53 |
109 |
4.18e0 |
SMART |
VWC
|
116 |
171 |
2.49e-5 |
SMART |
|
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000159205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161310
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161937
|
SMART Domains |
Protein: ENSMUSP00000125014 Gene: ENSMUSG00000045648
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:VWC_def
|
53 |
109 |
2e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162182
|
SMART Domains |
Protein: ENSMUSP00000123819 Gene: ENSMUSG00000045648
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:VWC_def
|
33 |
62 |
4e-12 |
BLAST |
VWC
|
69 |
124 |
2.49e-5 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (50/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,844,793 (GRCm39) |
W75R |
probably damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,776,324 (GRCm39) |
K165R |
possibly damaging |
Het |
Abca15 |
T |
C |
7: 119,939,428 (GRCm39) |
V274A |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,874 (GRCm39) |
S405P |
probably benign |
Het |
Arhgap26 |
G |
T |
18: 39,419,638 (GRCm39) |
G533* |
probably null |
Het |
Atxn2l |
T |
C |
7: 126,102,337 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,907,387 (GRCm39) |
L995H |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,612,756 (GRCm39) |
D255G |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,971,068 (GRCm39) |
H1023R |
possibly damaging |
Het |
Cog5 |
T |
A |
12: 31,936,220 (GRCm39) |
M589K |
possibly damaging |
Het |
Col25a1 |
C |
A |
3: 130,329,114 (GRCm39) |
P337Q |
probably damaging |
Het |
Cyfip1 |
T |
G |
7: 55,523,228 (GRCm39) |
V51G |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,292,626 (GRCm39) |
I3004F |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,671,569 (GRCm39) |
D758V |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,653,534 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,827,510 (GRCm39) |
H573Q |
probably damaging |
Het |
Erp27 |
T |
C |
6: 136,885,201 (GRCm39) |
D199G |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,894,635 (GRCm38) |
Y811C |
possibly damaging |
Het |
G6pd2 |
A |
T |
5: 61,966,593 (GRCm39) |
S123C |
probably benign |
Het |
Gm1818 |
T |
A |
12: 48,602,319 (GRCm39) |
|
noncoding transcript |
Het |
Gm29340 |
C |
T |
2: 116,798,519 (GRCm39) |
|
noncoding transcript |
Het |
H2bc7 |
C |
A |
13: 23,758,310 (GRCm39) |
|
probably benign |
Het |
Hcn2 |
G |
T |
10: 79,569,742 (GRCm39) |
G581W |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,042,313 (GRCm39) |
|
probably null |
Het |
Lonp1 |
T |
C |
17: 56,921,457 (GRCm39) |
E926G |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,396,026 (GRCm39) |
I2415V |
probably benign |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Mmp10 |
A |
G |
9: 7,503,633 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
A |
8: 10,619,877 (GRCm39) |
I1476N |
probably benign |
Het |
Nectin3 |
G |
T |
16: 46,215,515 (GRCm39) |
H76N |
probably damaging |
Het |
Nphs2 |
G |
A |
1: 156,153,521 (GRCm39) |
R204Q |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,940,256 (GRCm39) |
Y59C |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b53 |
T |
A |
9: 38,667,362 (GRCm39) |
I126N |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pate10 |
T |
A |
9: 35,652,840 (GRCm39) |
C27* |
probably null |
Het |
Psme2b |
T |
C |
11: 48,836,752 (GRCm39) |
D65G |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,012,172 (GRCm39) |
K214E |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,630,206 (GRCm39) |
T241S |
probably damaging |
Het |
Samd9l |
C |
G |
6: 3,377,252 (GRCm39) |
G3A |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,720,962 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
A |
13: 65,183,485 (GRCm39) |
D342E |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,719,642 (GRCm39) |
|
probably null |
Het |
Taar7b |
A |
T |
10: 23,876,615 (GRCm39) |
Y260F |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,817,517 (GRCm39) |
I289V |
probably damaging |
Het |
Vmn2r130 |
C |
T |
17: 23,282,629 (GRCm39) |
A103V |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,017,963 (GRCm39) |
V791A |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,644,224 (GRCm39) |
I729F |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,269,137 (GRCm39) |
D93V |
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 |
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'- ACAGTGTGGTGTTTTCCCAC -3'
(R):5'- TTCATCTAGTCTGTCATTAGGCGTC -3'
Sequencing Primer
(F):5'- CCACCTGGGGGAAAATCTGTATTC -3'
(R):5'- CTGTCATTAGGCGTCATTGTAAAGC -3'
|
Posted On |
2017-12-04 |