Incidental Mutation 'R7261:Spag16'
| ID |
564593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
045387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R7261 (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 C
at 70338780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 426
(I426T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065425
AA Change: I426T
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: I426T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
99% (84/85) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,259,526 (GRCm39) |
F1954L |
probably damaging |
Het |
| Acmsd |
T |
G |
1: 127,687,561 (GRCm39) |
I281R |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,677,424 (GRCm39) |
M742L |
possibly damaging |
Het |
| Adgrf4 |
G |
A |
17: 42,978,326 (GRCm39) |
T339I |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,976,245 (GRCm39) |
S448P |
probably damaging |
Het |
| Agbl2 |
A |
T |
2: 90,619,288 (GRCm39) |
S38C |
possibly damaging |
Het |
| Akap7 |
C |
T |
10: 25,147,416 (GRCm39) |
D105N |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,885,177 (GRCm39) |
F677L |
probably benign |
Het |
| Atf6b |
G |
T |
17: 34,869,792 (GRCm39) |
V271F |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,588,123 (GRCm39) |
Y114C |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,424,765 (GRCm39) |
D161E |
probably benign |
Het |
| Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,549,831 (GRCm39) |
P155T |
unknown |
Het |
| Champ1 |
A |
G |
8: 13,928,517 (GRCm39) |
D225G |
possibly damaging |
Het |
| Chrng |
A |
T |
1: 87,134,962 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
T |
C |
4: 133,963,084 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
G |
A |
4: 47,269,088 (GRCm39) |
G582D |
probably benign |
Het |
| Cwc25 |
A |
G |
11: 97,648,585 (GRCm39) |
V81A |
possibly damaging |
Het |
| Ddhd1 |
A |
G |
14: 45,894,688 (GRCm39) |
Y261H |
probably damaging |
Het |
| Defa29 |
A |
G |
8: 21,816,818 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
A |
C |
14: 87,202,893 (GRCm39) |
C666G |
probably benign |
Het |
| Dlx2 |
A |
G |
2: 71,375,019 (GRCm39) |
Y282H |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,814 (GRCm39) |
Y369* |
probably null |
Het |
| Dtwd1 |
A |
G |
2: 126,000,424 (GRCm39) |
N120S |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,169,992 (GRCm39) |
S1761N |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,416 (GRCm39) |
N46K |
probably damaging |
Het |
| Epha7 |
T |
A |
4: 28,813,418 (GRCm39) |
I12N |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,328,900 (GRCm39) |
N620Y |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,896,308 (GRCm39) |
S112G |
unknown |
Het |
| Gfpt2 |
A |
T |
11: 49,714,078 (GRCm39) |
E278D |
possibly damaging |
Het |
| Gm3285 |
A |
G |
10: 77,698,244 (GRCm39) |
Q131R |
unknown |
Het |
| Gpcpd1 |
A |
C |
2: 132,410,619 (GRCm39) |
C23G |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,037,954 (GRCm39) |
H228Q |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,704,415 (GRCm39) |
V500A |
probably benign |
Het |
| Hykk |
T |
G |
9: 54,828,010 (GRCm39) |
M83R |
possibly damaging |
Het |
| Idi1 |
A |
G |
13: 8,936,931 (GRCm39) |
I101V |
probably benign |
Het |
| Irs2 |
A |
T |
8: 11,057,018 (GRCm39) |
H471Q |
possibly damaging |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,288,385 (GRCm39) |
I1079V |
possibly damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,282,255 (GRCm39) |
R80H |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
| Lgr5 |
A |
T |
10: 115,423,370 (GRCm39) |
L10Q |
possibly damaging |
Het |
| Lnx1 |
G |
T |
5: 74,838,175 (GRCm39) |
S29* |
probably null |
Het |
| Lpcat3 |
T |
A |
6: 124,675,050 (GRCm39) |
F57I |
probably benign |
Het |
| Manf |
T |
C |
9: 106,769,088 (GRCm39) |
T4A |
probably benign |
Het |
| Map2k3 |
G |
A |
11: 60,836,393 (GRCm39) |
|
probably null |
Het |
| Myh14 |
G |
A |
7: 44,273,761 (GRCm39) |
Q1329* |
probably null |
Het |
| Myocd |
T |
C |
11: 65,078,422 (GRCm39) |
S458G |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,187,143 (GRCm39) |
|
probably null |
Het |
| Ndufs8 |
A |
T |
19: 3,961,606 (GRCm39) |
N23K |
probably benign |
Het |
| Nkx6-1 |
T |
C |
5: 101,812,006 (GRCm39) |
K32R |
unknown |
Het |
| Nlrp3 |
T |
G |
11: 59,439,272 (GRCm39) |
V283G |
possibly damaging |
Het |
| Nme3 |
A |
G |
17: 25,116,037 (GRCm39) |
|
probably null |
Het |
| Or1o3 |
A |
G |
17: 37,574,076 (GRCm39) |
F160L |
probably benign |
Het |
| Or8g23 |
C |
T |
9: 38,971,504 (GRCm39) |
V153M |
possibly damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Peg10 |
T |
A |
6: 4,756,591 (GRCm39) |
M389K |
unknown |
Het |
| Phf23 |
G |
T |
11: 69,890,091 (GRCm39) |
C340F |
possibly damaging |
Het |
| Piwil2 |
A |
G |
14: 70,611,860 (GRCm39) |
Y929H |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,369 (GRCm39) |
D203G |
probably damaging |
Het |
| Prss54 |
G |
T |
8: 96,286,367 (GRCm39) |
D235E |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,815,117 (GRCm39) |
M1015K |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,838,799 (GRCm39) |
I160T |
probably damaging |
Het |
| Rxylt1 |
A |
T |
10: 121,924,822 (GRCm39) |
D293E |
probably benign |
Het |
| Scn10a |
C |
A |
9: 119,438,790 (GRCm39) |
C1692F |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,648,899 (GRCm39) |
D55N |
probably damaging |
Het |
| Secisbp2 |
G |
T |
13: 51,836,498 (GRCm39) |
V768F |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,261,698 (GRCm39) |
T138A |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,427,011 (GRCm39) |
V250M |
possibly damaging |
Het |
| Strbp |
A |
T |
2: 37,531,149 (GRCm39) |
|
probably null |
Het |
| Sv2c |
C |
T |
13: 96,224,809 (GRCm39) |
V167M |
probably damaging |
Het |
| Tdpoz1 |
G |
A |
3: 93,577,794 (GRCm39) |
S330L |
not run |
Het |
| Tigd2 |
T |
A |
6: 59,188,052 (GRCm39) |
D306E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,782,287 (GRCm39) |
P3278S |
possibly damaging |
Het |
| Vdac1 |
A |
T |
11: 52,265,761 (GRCm39) |
K28N |
probably damaging |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,069 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,518 (GRCm39) |
K615* |
probably null |
Het |
| Vps11 |
A |
G |
9: 44,265,800 (GRCm39) |
L493P |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,754,179 (GRCm39) |
I35V |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,667 (GRCm39) |
M123K |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,627,470 (GRCm39) |
D1576E |
possibly 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 |
|
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'- ACAGTAGCGGTTTATCTCAAAGC -3'
(R):5'- ACTCTATTCCCACAAATGTCTAGC -3'
Sequencing Primer
(F):5'- GCGGTTTATCTCAAAGCATGAATTC -3'
(R):5'- TGTCTAGCAGTATAAAAGAATGACG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation