Incidental Mutation 'R7598:Spag16'
| ID |
587818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
045641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R7598 (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 69909467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 188
(F188S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065425
AA Change: F188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: F188S
| 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: F188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: F188S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,480,370 (GRCm39) |
S234G |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,077 (GRCm39) |
N176K |
possibly damaging |
Het |
| AI661453 |
T |
C |
17: 47,777,045 (GRCm39) |
V257A |
unknown |
Het |
| Alpk2 |
T |
A |
18: 65,437,637 (GRCm39) |
K1252M |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,445 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,576,308 (GRCm39) |
N447S |
probably benign |
Het |
| Apoc4 |
A |
G |
7: 19,415,265 (GRCm39) |
V14A |
probably benign |
Het |
| Arfgef2 |
A |
C |
2: 166,698,444 (GRCm39) |
Q638P |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,761,090 (GRCm39) |
F980L |
possibly damaging |
Het |
| Arhgap27 |
G |
A |
11: 103,224,879 (GRCm39) |
R459* |
probably null |
Het |
| Arhgef15 |
A |
T |
11: 68,837,236 (GRCm39) |
L785Q |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,500 (GRCm39) |
F249L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,278 (GRCm39) |
E233G |
possibly damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,349,006 (GRCm39) |
Q279K |
probably benign |
Het |
| Cilp2 |
A |
G |
8: 70,338,682 (GRCm39) |
C134R |
probably benign |
Het |
| Clec4b1 |
G |
A |
6: 123,048,427 (GRCm39) |
W187* |
probably null |
Het |
| Ddx11 |
G |
A |
17: 66,437,541 (GRCm39) |
|
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,279 (GRCm39) |
|
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,921,435 (GRCm39) |
H1387Q |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,235 (GRCm39) |
N148S |
probably damaging |
Het |
| Hs6st3 |
T |
A |
14: 120,106,750 (GRCm39) |
V386E |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,639,334 (GRCm39) |
R413Q |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,965 (GRCm39) |
N5S |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,275,878 (GRCm39) |
L155* |
probably null |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,272 (GRCm39) |
G234* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,412 (GRCm39) |
F503L |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,389,735 (GRCm39) |
I463L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,999 (GRCm39) |
T1982A |
unknown |
Het |
| Myo18a |
A |
T |
11: 77,738,172 (GRCm39) |
T1705S |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,372,977 (GRCm39) |
S1090G |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,358 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,234 (GRCm39) |
C127F |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,833 (GRCm39) |
F323S |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,966,767 (GRCm39) |
T561S |
probably damaging |
Het |
| Phip |
A |
C |
9: 82,787,711 (GRCm39) |
S817R |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,941 (GRCm39) |
M40L |
unknown |
Het |
| Pip4k2a |
T |
A |
2: 18,877,098 (GRCm39) |
L212F |
possibly damaging |
Het |
| Proc |
T |
A |
18: 32,268,929 (GRCm39) |
I19L |
probably benign |
Het |
| Rbm4 |
T |
C |
19: 4,842,539 (GRCm39) |
E100G |
possibly damaging |
Het |
| Rhobtb3 |
T |
C |
13: 76,059,021 (GRCm39) |
Y259C |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,124,884 (GRCm39) |
D168G |
probably null |
Het |
| Sdk1 |
T |
G |
5: 141,595,753 (GRCm39) |
Y136* |
probably null |
Het |
| Slk |
G |
A |
19: 47,624,901 (GRCm39) |
E1041K |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,973 (GRCm39) |
R378* |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,838 (GRCm39) |
C198R |
probably damaging |
Het |
| Tor1a |
A |
C |
2: 30,857,796 (GRCm39) |
I24S |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,263,569 (GRCm39) |
T1598K |
probably benign |
Het |
| Uncx |
G |
A |
5: 139,529,809 (GRCm39) |
V21M |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,803,342 (GRCm39) |
F53I |
possibly damaging |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp654 |
T |
A |
16: 64,606,297 (GRCm39) |
E94V |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,840 (GRCm39) |
L64P |
probably benign |
Het |
| Zfyve28 |
A |
C |
5: 34,393,461 (GRCm39) |
N68K |
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 |
|
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 |
|
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'- TGTAGAGTAAGACCCCGTCC -3'
(R):5'- CACACCTTAATAGTGTGAATATGGC -3'
Sequencing Primer
(F):5'- ATGCCTGAAATGCTGGGCTC -3'
(R):5'- ATGGCTTCAATTCAAGGGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation