Mutagenetix > Incidental Mutations

Incidental Mutation 'R2196:Spag16'

238332

Institutional Source

Beutler Lab

Gene Symbol

Spag16

Ensembl Gene

ENSMUSG00000053153

Gene Name

sperm associated antigen 16

Synonyms

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

MMRRC Submission

040198-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R2196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69826970-70725132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69858522 bp

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]

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: 12,275,179	T734S	probably damaging	Het
Acvr2a	A	T	2: 48,870,312	T27S	possibly damaging	Het
Ankhd1	T	A	18: 36,648,379	N2161K	probably damaging	Het
Apba3	A	G	10: 81,271,708	Y350C	probably damaging	Het
Bnipl	T	A	3: 95,249,870	R47S	possibly damaging	Het
Cacna1b	C	T	2: 24,761,788	M126I	probably damaging	Het
Cep112	G	A	11: 108,570,361	E329K	probably damaging	Het
Cep55	T	A	19: 38,069,110	Y187N	probably damaging	Het
Cngb3	T	C	4: 19,415,690	I400T	possibly damaging	Het
Csad	T	C	15: 102,187,593	N142D	probably benign	Het
Dars	A	T	1: 128,378,858	I195N	probably damaging	Het
Dmxl1	T	A	18: 49,917,631	L2454Q	probably benign	Het
Emc1	A	T	4: 139,366,530	E650D	probably benign	Het
Enam	A	G	5: 88,502,744	D704G	probably damaging	Het
Fat1	T	A	8: 45,024,646	I2220N	probably damaging	Het
Fat4	T	C	3: 38,981,417	S3073P	probably benign	Het
Fbxl4	T	C	4: 22,403,624	M399T	probably benign	Het
Gcsh	G	A	8: 116,989,170	T58M	possibly damaging	Het
Ghrhr	T	C	6: 55,379,741	Y108H	probably damaging	Het
Gm13757	G	A	2: 88,446,710	T76I	probably benign	Het
Gm5431	A	T	11: 48,889,231	I566N	probably damaging	Het
Gnb5	A	T	9: 75,327,229	D70V	probably damaging	Het
Grin2c	G	T	11: 115,250,666	S875R	probably benign	Het
Itch	A	C	2: 155,202,221	Q482P	probably benign	Het
Krt87	T	C	15: 101,438,433	E113G	probably damaging	Het
Map4	A	G	9: 110,071,048	E934G	probably damaging	Het
Mkx	A	G	18: 7,000,675	L89P	probably damaging	Het
Myo15	T	A	11: 60,510,021	Y2982*	probably null	Het
Nedd4	C	T	9: 72,725,074	L397F	possibly damaging	Het
Nom1	A	G	5: 29,436,021	D353G	probably benign	Het
Notch1	A	T	2: 26,463,804	L1937*	probably null	Het
Nrxn2	A	T	19: 6,490,109	D820V	probably damaging	Het
Nup210	A	T	6: 91,055,244	N47K	probably benign	Het
Olfr214	A	T	6: 116,556,617	Q64L	probably damaging	Het
Olfr340	T	A	2: 36,452,588	M1K	probably null	Het
Pcolce2	A	T	9: 95,694,689	I338F	probably damaging	Het
Pkd1	T	C	17: 24,580,072	M2755T	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Rab3a	T	C	8: 70,757,226	S51P	probably benign	Het
Scn10a	G	A	9: 119,609,004	A1933V	probably benign	Het
Serpina1c	T	A	12: 103,896,111	Y315F	probably damaging	Het
Slc29a4	A	C	5: 142,712,895	I104L	possibly damaging	Het
Spata22	A	G	11: 73,345,834	K322R	probably benign	Het
Sult2a8	T	A	7: 14,427,853	I23L	probably benign	Het
Thoc1	T	A	18: 9,986,300	V344D	probably damaging	Het
Tnn	G	C	1: 160,097,228	Y1185*	probably null	Het
Trpc4	A	G	3: 54,302,193	I660V	probably benign	Het
Urb1	A	G	16: 90,774,256	Y1222H	probably benign	Het
Usp4	A	G	9: 108,373,686	E531G	probably benign	Het
Vmn2r93	C	T	17: 18,305,166	S362L	probably damaging	Het
Zfhx3	G	T	8: 108,800,253	E927D	probably damaging	Het
Zfp644	A	T	5: 106,638,603	M1K	probably null	Het
Zp2	T	C	7: 120,138,306	H252R	probably benign	Het

Other mutations in Spag16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Spag16	APN	1	70299650	missense	probably damaging	1.00
IGL01129:Spag16	APN	1	69896522	missense	probably benign	0.01
IGL02117:Spag16	APN	1	69870320	missense	probably damaging	1.00
IGL02245:Spag16	APN	1	69858502	missense	probably benign
IGL02492:Spag16	APN	1	69887529	missense	probably benign
IGL02851:Spag16	APN	1	70264908	missense	possibly damaging	0.76
IGL03271:Spag16	APN	1	69853352	missense	probably benign	0.00
IGL03274:Spag16	APN	1	69844381	splice site	probably benign
PIT4243001:Spag16	UTSW	1	69853381	missense	probably damaging	1.00
R0084:Spag16	UTSW	1	69996839	missense	probably benign	0.02
R0513:Spag16	UTSW	1	70493768	splice site	probably benign
R0653:Spag16	UTSW	1	69870345	missense	probably damaging	1.00
R1165:Spag16	UTSW	1	69996877	missense	probably benign	0.04
R1178:Spag16	UTSW	1	69923658	splice site	probably benign
R1180:Spag16	UTSW	1	69923658	splice site	probably benign
R1404:Spag16	UTSW	1	69895280	splice site	probably benign
R1547:Spag16	UTSW	1	69873243	missense	possibly damaging	0.51
R1689:Spag16	UTSW	1	70461118	missense	probably benign	0.01
R1699:Spag16	UTSW	1	69996856	missense	probably benign	0.05
R1714:Spag16	UTSW	1	69843005	missense	probably damaging	0.97
R1724:Spag16	UTSW	1	70493782	missense	probably damaging	1.00
R1873:Spag16	UTSW	1	69896585	splice site	probably benign
R2207:Spag16	UTSW	1	70724884	missense	probably benign	0.00
R4058:Spag16	UTSW	1	69853328	missense	probably damaging	0.96
R4276:Spag16	UTSW	1	69873481	intron	probably benign
R4497:Spag16	UTSW	1	70493830	missense	probably damaging	1.00
R4560:Spag16	UTSW	1	69844296	missense	probably benign	0.05
R4648:Spag16	UTSW	1	69827035	missense	probably null	0.99
R4972:Spag16	UTSW	1	70724928	missense	probably damaging	1.00
R5027:Spag16	UTSW	1	69923804	intron	probably benign
R5032:Spag16	UTSW	1	69853352	missense	probably benign	0.00
R5174:Spag16	UTSW	1	70493796	missense	probably damaging	1.00
R5276:Spag16	UTSW	1	69896583	critical splice donor site	probably null
R5537:Spag16	UTSW	1	69827016	missense	probably benign
R5706:Spag16	UTSW	1	69870289	missense	probably benign	0.01
R5834:Spag16	UTSW	1	69923714	missense	probably benign	0.00
R6131:Spag16	UTSW	1	70725083	utr 3 prime	probably null
R6246:Spag16	UTSW	1	69923821	missense	probably benign	0.45
R7164:Spag16	UTSW	1	70724866	missense	possibly damaging	0.88
R7261:Spag16	UTSW	1	70299621	missense	possibly damaging	0.56
R7358:Spag16	UTSW	1	69844367	missense	probably benign	0.00
R7431:Spag16	UTSW	1	69923872	missense	unknown
R7508:Spag16	UTSW	1	69887520	missense	possibly damaging	0.93
R7566:Spag16	UTSW	1	69870328	missense	probably damaging	1.00
R7570:Spag16	UTSW	1	69996841	missense	probably benign	0.00

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