Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Spag16'

585677

Institutional Source

Beutler Lab

Gene Symbol

Spag16

Ensembl Gene

ENSMUSG00000053153

Gene Name

sperm associated antigen 16

Synonyms

4921511D23Rik, Wdr29, Pf20, 4930524F24Rik, 4930585K05Rik

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69866129-70764291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70036000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 343 (V343I)

Ref Sequence

ENSEMBL: ENSMUSP00000069821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065425]

AlphaFold

Q8K450

Predicted Effect

probably benign
Transcript: ENSMUST00000065425
AA Change: V343I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: V343I

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,911,591 (GRCm39)	T613I	probably benign	Het
Ajuba	T	C	14: 54,813,859 (GRCm39)	E288G	probably damaging	Het
Ankrd12	C	T	17: 66,292,355 (GRCm39)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,307,674 (GRCm39)	T274A	probably benign	Het
Arid4a	A	T	12: 71,109,916 (GRCm39)	R86*	probably null	Het
Asnsd1	C	T	1: 53,387,417 (GRCm39)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,116,797 (GRCm39)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,085,715 (GRCm39)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,104,183 (GRCm39)	I209F	possibly damaging	Het
Bsn	T	C	9: 107,990,742 (GRCm39)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,288,210 (GRCm39)	I121F	probably benign	Het
Cd209a	T	G	8: 3,794,151 (GRCm39)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,353,954 (GRCm39)	S456L	possibly damaging	Het
Chd9	C	T	8: 91,721,208 (GRCm39)	H999Y	unknown	Het
Col5a1	G	A	2: 27,841,395 (GRCm39)	V339M	unknown	Het
Cr2	G	A	1: 194,851,648 (GRCm39)	R115*	probably null	Het
Cyb561	A	T	11: 105,828,470 (GRCm39)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,393,187 (GRCm39)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,848,342 (GRCm39)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,244,932 (GRCm39)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,303,356 (GRCm39)	S296P	probably benign	Het
Dmxl1	T	A	18: 50,027,024 (GRCm39)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,347,098 (GRCm39)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,126,413 (GRCm39)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,438,712 (GRCm39)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,518,619 (GRCm39)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,855,642 (GRCm39)	D147G	probably damaging	Het
Drap1	T	C	19: 5,473,380 (GRCm39)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,660,837 (GRCm39)	V392E	possibly damaging	Het
Dxo	A	G	17: 35,056,616 (GRCm39)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,828,645 (GRCm39)	T11K	probably benign	Het
Esyt1	A	G	10: 128,354,801 (GRCm39)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,443,338 (GRCm39)	C307*	probably null	Het
Fam114a1	T	A	5: 65,187,402 (GRCm39)		probably null	Het
Fam3c	T	A	6: 22,326,404 (GRCm39)		probably benign	Het
Fbn1	G	T	2: 125,239,772 (GRCm39)	T305K	probably benign	Het
Ggt1	A	T	10: 75,421,428 (GRCm39)	I484F	probably damaging	Het
Gpatch1	T	C	7: 34,993,237 (GRCm39)	D536G	probably damaging	Het
Gpx4	T	C	10: 79,890,875 (GRCm39)	I189T	probably damaging	Het
Gsr	T	A	8: 34,159,193 (GRCm39)	C85S	probably damaging	Het
Gsta5	A	T	9: 78,211,751 (GRCm39)	D171V	possibly damaging	Het
Havcr1	T	A	11: 46,661,369 (GRCm39)		probably null	Het
Heatr4	T	C	12: 84,026,418 (GRCm39)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,313,923 (GRCm39)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,312,556 (GRCm39)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,432,358 (GRCm39)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,227,439 (GRCm39)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,404,803 (GRCm39)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,528 (GRCm39)	I512V	probably benign	Het
Lamc1	A	T	1: 153,119,021 (GRCm39)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,223,687 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,028,658 (GRCm39)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,723,367 (GRCm39)	I491L	probably benign	Het
Mitd1	T	C	1: 37,929,273 (GRCm39)	E40G	probably damaging	Het
Mpzl3	A	G	9: 44,981,985 (GRCm39)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,316,827 (GRCm39)	S77P	probably benign	Het
Mup5	C	T	4: 61,752,911 (GRCm39)	W37*	probably null	Het
Myh14	T	C	7: 44,281,850 (GRCm39)	I803V	probably benign	Het
Ncor2	T	A	5: 125,107,153 (GRCm39)	T744S		Het
Ndufv3	A	G	17: 31,746,596 (GRCm39)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,006,150 (GRCm39)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,469,807 (GRCm39)	E1288A	probably benign	Het
Or4c11c	A	G	2: 88,661,472 (GRCm39)	N4D	possibly damaging	Het
Or51b6b	C	A	7: 103,310,088 (GRCm39)	R123L	probably damaging	Het
Or52h1	T	A	7: 103,828,955 (GRCm39)	Y220F	probably damaging	Het
Or8g55	A	T	9: 39,784,751 (GRCm39)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,312,737 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,720,381 (GRCm39)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 65,683,646 (GRCm39)	T754A	probably benign	Het
Pde2a	A	T	7: 101,152,041 (GRCm39)	N326I	probably benign	Het
Plekhg4	T	C	8: 106,105,316 (GRCm39)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,977,065 (GRCm39)	D135G	probably damaging	Het
Plin4	A	T	17: 56,413,776 (GRCm39)	M283K	probably benign	Het
Ppfia3	T	C	7: 44,990,172 (GRCm39)		probably null	Het
Prdm9	T	C	17: 15,775,914 (GRCm39)	N179S	probably benign	Het
Prrt3	T	C	6: 113,471,449 (GRCm39)	S908G	probably damaging	Het
Psg22	C	A	7: 18,456,660 (GRCm39)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,269,023 (GRCm39)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm39)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,046,396 (GRCm39)	M172L	probably benign	Het
Rtbdn	T	C	8: 85,679,556 (GRCm39)	L110P	probably damaging	Het
Ryr1	T	A	7: 28,778,010 (GRCm39)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,211,299 (GRCm39)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,358,965 (GRCm39)		probably null	Het
Serpina1a	A	T	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 81,934,285 (GRCm39)	M262T	probably benign	Het
Sos2	G	A	12: 69,637,654 (GRCm39)	T1052M	probably damaging	Het
Spocd1	T	G	4: 129,823,957 (GRCm39)	D251E		Het
Stc2	G	T	11: 31,317,798 (GRCm39)	N74K	probably damaging	Het
Tasor2	A	G	13: 3,623,621 (GRCm39)	Y2110H	probably damaging	Het
Thbs3	C	T	3: 89,126,359 (GRCm39)	Q227*	probably null	Het
Tmem92	A	C	11: 94,669,816 (GRCm39)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm39)	N20K	probably benign	Het
Tns1	T	C	1: 73,992,638 (GRCm39)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,337 (GRCm39)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,658,980 (GRCm39)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,224,919 (GRCm39)	T572S	probably benign	Het
Usp17la	A	T	7: 104,509,604 (GRCm39)	T70S	probably damaging	Het
Usp31	C	T	7: 121,274,186 (GRCm39)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,806,463 (GRCm39)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,416,366 (GRCm39)		probably benign	Het
Zfp110	T	A	7: 12,583,267 (GRCm39)	N638K	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,455 (GRCm39)	S216C	probably benign	Het
Zfp820	T	C	17: 22,037,994 (GRCm39)	T445A	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
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'- CCCAAAGTTGCAGTGGAATATGAG -3'
(R):5'- TTGCTGTGAGAAGCTAAAGCATC -3'

Sequencing Primer
(F):5'- TTGCAGTGGAATATGAGGAATTG -3'
(R):5'- AGAAGCTAAAGCATCTATTTTCACAG -3'

Posted On

2019-10-17