Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03274:Spag16'

415367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spag16

Ensembl Gene

ENSMUSG00000053153

Gene Name

sperm associated antigen 16

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL03274

Quality Score

Status

Chromosome

Chromosomal Location

69866129-70764291 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 69883540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000113940

SMART Domains

Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adissp	A	T	2: 130,995,512 (GRCm39)		probably null	Het
Anln	C	A	9: 22,293,565 (GRCm39)	R26M	probably damaging	Het
Capn15	A	T	17: 26,180,812 (GRCm39)	S753T	probably damaging	Het
Ccdc62	A	G	5: 124,092,743 (GRCm39)	N576S	probably benign	Het
Csmd3	T	C	15: 47,508,900 (GRCm39)	D2895G	probably damaging	Het
Dspp	T	A	5: 104,322,814 (GRCm39)	V37E	probably damaging	Het
Efcab3	A	T	11: 104,611,919 (GRCm39)	D587V	probably benign	Het
Efcab6	T	C	15: 83,752,450 (GRCm39)	D1473G	probably damaging	Het
Ehhadh	T	C	16: 21,582,090 (GRCm39)		probably benign	Het
Fbln1	T	C	15: 85,116,879 (GRCm39)		probably null	Het
Gbp9	A	G	5: 105,230,652 (GRCm39)	V424A	possibly damaging	Het
Gda	T	C	19: 21,394,371 (GRCm39)	Y236C	possibly damaging	Het
Gm4884	A	G	7: 40,693,969 (GRCm39)	E646G	probably damaging	Het
Gm4952	C	A	19: 12,600,960 (GRCm39)		probably benign	Het
Gm5422	G	T	10: 31,126,348 (GRCm39)		noncoding transcript	Het
Grin2b	C	T	6: 135,757,253 (GRCm39)	D403N	possibly damaging	Het
Hsf2bp	G	A	17: 32,226,744 (GRCm39)	R204C	probably damaging	Het
Il16	T	C	7: 83,310,442 (GRCm39)	E488G	probably damaging	Het
Kat6b	G	T	14: 21,659,831 (GRCm39)	D212Y	possibly damaging	Het
Kctd2	A	C	11: 115,320,208 (GRCm39)	I247L	possibly damaging	Het
Kel	T	A	6: 41,664,929 (GRCm39)		probably null	Het
Krt20	A	T	11: 99,320,855 (GRCm39)		probably benign	Het
Litaf	T	C	16: 10,784,433 (GRCm39)	T26A	probably damaging	Het
N4bp2l2	G	T	5: 150,584,931 (GRCm39)	Q350K	probably damaging	Het
Nav2	T	G	7: 49,011,847 (GRCm39)	I26S	probably damaging	Het
Nfya	A	G	17: 48,698,375 (GRCm39)	Y162H	probably damaging	Het
Or2g25	C	T	17: 37,970,646 (GRCm39)	A193T	probably benign	Het
Pbx4	A	T	8: 70,319,200 (GRCm39)	S244C	probably damaging	Het
Pcdhb16	T	C	18: 37,612,285 (GRCm39)	V415A	probably benign	Het
Rbbp8	A	G	18: 11,874,133 (GRCm39)		probably benign	Het
Sp100	T	C	1: 85,635,025 (GRCm39)		probably benign	Het
Star	A	G	8: 26,301,082 (GRCm39)	D138G	possibly 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
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
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

Posted On

2016-08-02