Incidental Mutation 'R7508:Spag16'
| ID |
581873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
045581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R7508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69926679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 258
(N258I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065425
AA Change: N258I
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: N258I
| 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: N258I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: N258I
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,174,209 (GRCm39) |
A110T |
probably benign |
Het |
| Adra1a |
A |
C |
14: 66,875,384 (GRCm39) |
I120L |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,740,839 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,547,707 (GRCm39) |
H590R |
probably benign |
Het |
| Cdh12 |
T |
G |
15: 21,583,851 (GRCm39) |
L564V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,713,821 (GRCm39) |
H1900Q |
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,473,164 (GRCm39) |
M918K |
probably benign |
Het |
| Cmtm6 |
A |
G |
9: 114,560,308 (GRCm39) |
E2G |
probably damaging |
Het |
| Ctsg |
A |
G |
14: 56,337,998 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
T |
A |
4: 51,229,256 (GRCm39) |
|
probably null |
Het |
| Dna2 |
A |
G |
10: 62,807,772 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,614,323 (GRCm39) |
R333H |
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,227,414 (GRCm39) |
D239G |
probably benign |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,612 (GRCm39) |
M41T |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,269 (GRCm39) |
D54E |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,636,675 (GRCm39) |
V2159A |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,157 (GRCm39) |
F105L |
probably benign |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,355,715 (GRCm39) |
F57L |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,188 (GRCm39) |
D500G |
probably benign |
Het |
| Ighv1-26 |
G |
A |
12: 114,752,062 (GRCm39) |
S94F |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Klra7 |
A |
T |
6: 130,207,054 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
T |
C |
8: 85,430,929 (GRCm39) |
V277A |
probably benign |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,807,445 (GRCm39) |
L1627P |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,813,249 (GRCm39) |
C218S |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,822,779 (GRCm39) |
I305F |
probably benign |
Het |
| Or8u3-ps |
A |
G |
2: 85,952,282 (GRCm39) |
N5S |
possibly damaging |
Het |
| Pde5a |
A |
G |
3: 122,611,679 (GRCm39) |
D571G |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,045,111 (GRCm39) |
E343G |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,739,040 (GRCm39) |
F667L |
possibly damaging |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,189,896 (GRCm39) |
Q1565* |
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,036,077 (GRCm39) |
N523K |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,719,651 (GRCm39) |
L557P |
probably damaging |
Het |
| Rhobtb3 |
C |
T |
13: 76,026,976 (GRCm39) |
V466I |
probably benign |
Het |
| Rnpep |
A |
G |
1: 135,206,596 (GRCm39) |
V166A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,056,954 (GRCm39) |
K1046R |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,037,465 (GRCm39) |
V525A |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,256,487 (GRCm39) |
I448N |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,089,885 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,443,633 (GRCm39) |
L2076Q |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,436,152 (GRCm39) |
H704L |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,035,947 (GRCm39) |
F148L |
probably damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,202,176 (GRCm39) |
Y12H |
probably benign |
Het |
| Traj6 |
C |
T |
14: 54,450,171 (GRCm39) |
T9M |
|
Het |
| Ttll4 |
A |
G |
1: 74,726,418 (GRCm39) |
N672S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,953,437 (GRCm39) |
H790Q |
possibly damaging |
Het |
| Usp49 |
G |
A |
17: 47,983,205 (GRCm39) |
R70Q |
probably benign |
Het |
| Vmn2r32 |
C |
T |
7: 7,470,373 (GRCm39) |
V515M |
possibly damaging |
Het |
| Wars1 |
A |
G |
12: 108,848,801 (GRCm39) |
S49P |
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,049,604 (GRCm39) |
Q386L |
possibly damaging |
Het |
| Zfp369 |
T |
C |
13: 65,427,087 (GRCm39) |
F10S |
unknown |
Het |
| Zfp512 |
C |
G |
5: 31,630,883 (GRCm39) |
I408M |
possibly damaging |
Het |
| Zfp952 |
A |
G |
17: 33,222,756 (GRCm39) |
I412V |
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 |
|
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 |
|
|
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'- ACACTTCAAATACTTTGTATGGTGG -3'
(R):5'- CCCATCTCACTCTGACCAGG -3'
Sequencing Primer
(F):5'- TTTCTGCTAAAGTTTATGTTCAATGC -3'
(R):5'- GGAGTCTCTCCTCAAACATAGTTTGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation