Incidental Mutation 'R2196:Spag16'
| ID |
238332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag16
|
| Ensembl Gene |
ENSMUSG00000053153 |
| Gene Name |
sperm associated antigen 16 |
| Synonyms |
4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik |
| MMRRC Submission |
040198-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R2196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
69866129-70764291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69897681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 144
(V144I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065425]
[ENSMUST00000113940]
|
| AlphaFold |
Q8K450 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065425
AA Change: V144I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: V144I
| 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 |
possibly damaging
Transcript: ENSMUST00000113940
AA Change: V144I
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: V144I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161131
|
| SMART Domains |
Protein: ENSMUSP00000124372
Gene: ENSMUSG00000053153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
|
coiled coil region
|
146 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190833
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
| Acvr2a |
A |
T |
2: 48,760,324 (GRCm39) |
T27S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,781,432 (GRCm39) |
N2161K |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,107,542 (GRCm39) |
Y350C |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,157,181 (GRCm39) |
R47S |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
| Cep112 |
G |
A |
11: 108,461,187 (GRCm39) |
E329K |
probably damaging |
Het |
| Cep55 |
T |
A |
19: 38,057,558 (GRCm39) |
Y187N |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
| Csad |
T |
C |
15: 102,096,028 (GRCm39) |
N142D |
probably benign |
Het |
| Dars1 |
A |
T |
1: 128,306,595 (GRCm39) |
I195N |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,050,698 (GRCm39) |
L2454Q |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,093,841 (GRCm39) |
E650D |
probably benign |
Het |
| Enam |
A |
G |
5: 88,650,603 (GRCm39) |
D704G |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,683 (GRCm39) |
I2220N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,566 (GRCm39) |
S3073P |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
| Gcsh |
G |
A |
8: 117,715,909 (GRCm39) |
T58M |
possibly damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,726 (GRCm39) |
Y108H |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,780,058 (GRCm39) |
I566N |
probably damaging |
Het |
| Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
| Grin2c |
G |
T |
11: 115,141,492 (GRCm39) |
S875R |
probably benign |
Het |
| Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,336,314 (GRCm39) |
E113G |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,900,116 (GRCm39) |
E934G |
probably damaging |
Het |
| Mkx |
A |
G |
18: 7,000,675 (GRCm39) |
L89P |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,400,847 (GRCm39) |
Y2982* |
probably null |
Het |
| Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
| Nom1 |
A |
G |
5: 29,641,019 (GRCm39) |
D353G |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,353,816 (GRCm39) |
L1937* |
probably null |
Het |
| Nrxn2 |
A |
T |
19: 6,540,139 (GRCm39) |
D820V |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,032,226 (GRCm39) |
N47K |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,342,600 (GRCm39) |
M1K |
probably null |
Het |
| Or4p21 |
G |
A |
2: 88,277,054 (GRCm39) |
T76I |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,533,578 (GRCm39) |
Q64L |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,576,742 (GRCm39) |
I338F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,046 (GRCm39) |
M2755T |
possibly damaging |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,209,872 (GRCm39) |
S51P |
probably benign |
Het |
| Scn10a |
G |
A |
9: 119,438,070 (GRCm39) |
A1933V |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,370 (GRCm39) |
Y315F |
probably damaging |
Het |
| Slc29a4 |
A |
C |
5: 142,698,650 (GRCm39) |
I104L |
possibly damaging |
Het |
| Spata22 |
A |
G |
11: 73,236,660 (GRCm39) |
K322R |
probably benign |
Het |
| Sult2a8 |
T |
A |
7: 14,161,778 (GRCm39) |
I23L |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,986,300 (GRCm39) |
V344D |
probably damaging |
Het |
| Tnn |
G |
C |
1: 159,924,798 (GRCm39) |
Y1185* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,209,614 (GRCm39) |
I660V |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
| Usp4 |
A |
G |
9: 108,250,885 (GRCm39) |
E531G |
probably benign |
Het |
| Vmn2r93 |
C |
T |
17: 18,525,428 (GRCm39) |
S362L |
probably damaging |
Het |
| Zfhx3 |
G |
T |
8: 109,526,885 (GRCm39) |
E927D |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,469 (GRCm39) |
M1K |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
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 |
|
|
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 |
|
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'- GGAACATACATGTCCCATTGC -3'
(R):5'- TAAGTTTCTCAGAGTGGGTTACAAG -3'
Sequencing Primer
(F):5'- ACATGTCCCATTGCATTTTAAAAATC -3'
(R):5'- CTCAGAGTGGGTTACAAGTATCATCC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation