Incidental Mutation 'R9192:Spag16'
| ID |
697716 |
| 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 # |
R9192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69963007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 385
(T385A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000113940
AA Change: T385A
|
| SMART Domains |
Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: T385A
| 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 |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,354,249 (GRCm39) |
M71K |
probably benign |
Het |
| Angptl4 |
C |
T |
17: 34,000,285 (GRCm39) |
A28T |
probably benign |
Het |
| Baz1b |
T |
G |
5: 135,239,648 (GRCm39) |
N249K |
possibly damaging |
Het |
| BC035947 |
A |
T |
1: 78,475,877 (GRCm39) |
Y218* |
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,408,333 (GRCm39) |
I211V |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,299,889 (GRCm39) |
E365G |
probably benign |
Het |
| E2f7 |
G |
T |
10: 110,599,851 (GRCm39) |
R202L |
probably damaging |
Het |
| Fscb |
A |
C |
12: 64,520,890 (GRCm39) |
I192S |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,844 (GRCm39) |
I4526V |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,127,303 (GRCm39) |
F57I |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,003,354 (GRCm39) |
C50S |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,321,413 (GRCm39) |
V1267I |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,227,142 (GRCm39) |
D845E |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,070,679 (GRCm39) |
T473S |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,499 (GRCm39) |
I327N |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,854,442 (GRCm39) |
L235P |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,204,181 (GRCm39) |
E486K |
possibly damaging |
Het |
| Lhx6 |
A |
T |
2: 35,981,145 (GRCm39) |
W266R |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,810 (GRCm39) |
L65* |
probably null |
Het |
| Mocos |
A |
G |
18: 24,812,594 (GRCm39) |
Q496R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,203,847 (GRCm39) |
S285G |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,582,611 (GRCm39) |
N613S |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,138,386 (GRCm39) |
R10Q |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,352,430 (GRCm39) |
L55P |
probably damaging |
Het |
| Or4x13 |
C |
A |
2: 90,231,716 (GRCm39) |
T237N |
probably damaging |
Het |
| Or51i2 |
A |
T |
7: 103,689,875 (GRCm39) |
I291F |
possibly damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,996,294 (GRCm39) |
C119R |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,274 (GRCm39) |
V144A |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,862 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,527 (GRCm39) |
T719A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,084 (GRCm39) |
N900D |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,163 (GRCm39) |
Q73L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,204 (GRCm39) |
K835E |
unknown |
Het |
| Psmd2 |
T |
A |
16: 20,473,412 (GRCm39) |
Y158N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,243,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Rhoq |
A |
T |
17: 87,304,405 (GRCm39) |
I179F |
|
Het |
| Rnf26rt |
T |
C |
6: 76,473,566 (GRCm39) |
D350G |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,381 (GRCm39) |
I257M |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,124 (GRCm39) |
A268V |
probably benign |
Het |
| Serinc4 |
G |
A |
2: 121,287,250 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,429,807 (GRCm39) |
M605K |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,133,649 (GRCm39) |
Y516H |
probably damaging |
Het |
| Stat6 |
G |
A |
10: 127,493,479 (GRCm39) |
R600H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,786,344 (GRCm39) |
V40A |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,224,755 (GRCm39) |
I185L |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,156,703 (GRCm39) |
L2115H |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,492 (GRCm39) |
E160G |
probably benign |
Het |
| Tle1 |
G |
T |
4: 72,036,753 (GRCm39) |
T727K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,764 (GRCm39) |
D61E |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,773,602 (GRCm39) |
R409L |
|
Het |
| Tnrc6a |
C |
A |
7: 122,789,176 (GRCm39) |
P1665Q |
probably damaging |
Het |
| Tns2 |
C |
A |
15: 102,021,416 (GRCm39) |
P1027Q |
probably damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,745,255 (GRCm39) |
S5265P |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,935,737 (GRCm39) |
Y399* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,172,394 (GRCm39) |
I504N |
probably damaging |
Het |
| Vmn2r5 |
G |
T |
3: 64,398,938 (GRCm39) |
C680* |
probably null |
Het |
| Zfp644 |
G |
C |
5: 106,785,829 (GRCm39) |
S239R |
probably benign |
Het |
| Zfp954 |
C |
T |
7: 7,118,933 (GRCm39) |
G204S |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,769,588 (GRCm39) |
T1265I |
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 |
|
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 |
|
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'- AAGAGGGTCCAACCGAGT -3'
(R):5'- AAATAAGAGTCATTTGTGAACAGCA -3'
Sequencing Primer
(F):5'- GAGTCCAACAGAGTCTCATATGGTC -3'
(R):5'- CTTCAGCTGCATATATAGCAGAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation