Incidental Mutation 'R9666:Spag16'
| ID |
735686 |
| 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 # |
R9666 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70764072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 631
(S631P)
|
| 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 damaging
Transcript: ENSMUST00000065425
AA Change: S631P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: S631P
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcb5 |
C |
A |
12: 118,838,422 (GRCm39) |
V1047L |
probably damaging |
Het |
| Akap6 |
G |
A |
12: 53,188,318 (GRCm39) |
A1911T |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,726,838 (GRCm39) |
K819* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,147,183 (GRCm39) |
R746G |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,988,345 (GRCm39) |
I268T |
probably benign |
Het |
| Bysl |
A |
G |
17: 47,914,865 (GRCm39) |
I206T |
probably benign |
Het |
| Ccdc70 |
A |
C |
8: 22,463,357 (GRCm39) |
E49A |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,955,976 (GRCm39) |
H525L |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,496,670 (GRCm39) |
E442G |
unknown |
Het |
| Cpd |
G |
A |
11: 76,693,133 (GRCm39) |
P718S |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,107,461 (GRCm39) |
I1391N |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,501,946 (GRCm39) |
T541A |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,218,947 (GRCm39) |
Q1796* |
probably null |
Het |
| Gm10267 |
T |
C |
18: 44,291,397 (GRCm39) |
I25V |
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,061,441 (GRCm39) |
R744Q |
probably benign |
Het |
| Gm37240 |
T |
C |
3: 84,422,952 (GRCm39) |
Y139C |
probably damaging |
Het |
| Gm39115 |
A |
G |
7: 141,689,255 (GRCm39) |
C173R |
unknown |
Het |
| Grm6 |
T |
G |
11: 50,750,877 (GRCm39) |
V680G |
probably damaging |
Het |
| Grxcr2 |
C |
T |
18: 42,131,956 (GRCm39) |
D38N |
probably damaging |
Het |
| Iah1 |
G |
A |
12: 21,366,587 (GRCm39) |
R52H |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,131,920 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,588 (GRCm39) |
I334V |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,897,692 (GRCm39) |
Q958L |
possibly damaging |
Het |
| Il4i1 |
G |
A |
7: 44,489,263 (GRCm39) |
A343T |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,748,217 (GRCm39) |
I1128V |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,111,588 (GRCm39) |
G7V |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,818,896 (GRCm39) |
R312G |
possibly damaging |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
T |
17: 71,529,065 (GRCm39) |
N108Y |
probably damaging |
Het |
| Man2a1 |
A |
T |
17: 64,943,557 (GRCm39) |
E204V |
possibly damaging |
Het |
| Megf8 |
A |
G |
7: 25,030,166 (GRCm39) |
T434A |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,072 (GRCm39) |
S442T |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,567,285 (GRCm39) |
T1745A |
unknown |
Het |
| Mycbp2 |
G |
T |
14: 103,371,474 (GRCm39) |
P4135T |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,857,045 (GRCm39) |
V398A |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,885 (GRCm39) |
I255T |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5w11 |
C |
T |
2: 87,459,152 (GRCm39) |
A115V |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,099 (GRCm39) |
S323T |
probably benign |
Het |
| Or6e1 |
G |
T |
14: 54,520,342 (GRCm39) |
N3K |
probably damaging |
Het |
| Or6f1 |
A |
G |
7: 85,970,444 (GRCm39) |
S239P |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,964,294 (GRCm39) |
N653S |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,945,346 (GRCm39) |
F18L |
probably benign |
Het |
| Pnoc |
A |
G |
14: 65,639,247 (GRCm39) |
I206T |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,049,129 (GRCm39) |
M1V |
probably null |
Het |
| Pramel21 |
A |
G |
4: 143,341,699 (GRCm39) |
T43A |
probably benign |
Het |
| Psg22 |
T |
C |
7: 18,458,248 (GRCm39) |
V313A |
probably benign |
Het |
| Ptk2b |
G |
T |
14: 66,409,546 (GRCm39) |
P497T |
probably damaging |
Het |
| Rer1 |
A |
G |
4: 155,160,044 (GRCm39) |
|
probably null |
Het |
| Rnf130 |
A |
G |
11: 49,986,618 (GRCm39) |
T321A |
probably benign |
Het |
| Rnf207 |
A |
T |
4: 152,397,717 (GRCm39) |
F346I |
probably damaging |
Het |
| Rraga |
T |
A |
4: 86,494,574 (GRCm39) |
I140N |
possibly damaging |
Het |
| Rusc2 |
A |
T |
4: 43,416,262 (GRCm39) |
M523L |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,792,622 (GRCm39) |
V495D |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,945,926 (GRCm39) |
L153P |
probably benign |
Het |
| Syne1 |
A |
C |
10: 4,984,937 (GRCm39) |
L747R |
probably damaging |
Het |
| Tac1 |
A |
G |
6: 7,555,675 (GRCm39) |
E21G |
probably benign |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,542,957 (GRCm39) |
D1344G |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,926,045 (GRCm39) |
E912K |
probably damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,037 (GRCm39) |
T38A |
probably benign |
Het |
| Trbv15 |
T |
A |
6: 41,118,364 (GRCm39) |
L40Q |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,973,455 (GRCm39) |
I288V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,604,941 (GRCm39) |
I18331N |
probably damaging |
Het |
| Tubgcp2 |
A |
T |
7: 139,587,836 (GRCm39) |
I263N |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,870 (GRCm39) |
T904A |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,323 (GRCm39) |
T106M |
probably damaging |
Het |
| Zfp617 |
A |
G |
8: 72,686,539 (GRCm39) |
T290A |
probably benign |
Het |
| Zfp809 |
T |
C |
9: 22,149,863 (GRCm39) |
V120A |
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 |
|
|
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 |
|
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'- TGAGTCTCTTGAATCACAACCG -3'
(R):5'- GGTCCATATATTATTCACCCAAAGC -3'
Sequencing Primer
(F):5'- GTGACTGCTTGAGATAAACCTCC -3'
(R):5'- TTCACCCAAAGCTTGTTTTAAAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation