Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01129:Spag16'

50320

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: 0.129) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

69866129-70764291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69935681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 303 (S303C)

Ref Sequence

ENSEMBL: ENSMUSP00000109573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065425] [ENSMUST00000113940]

AlphaFold

Q8K450

Predicted Effect

probably benign
Transcript: ENSMUST00000065425
AA Change: S303C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153
AA Change: S303C

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
AA Change: S303C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109573
Gene: ENSMUSG00000053153
AA Change: S303C

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: 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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 66,964,210 (GRCm39)	F216L	possibly damaging	Het
Bace2	T	G	16: 97,209,630 (GRCm39)	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ckap2	C	T	8: 22,659,774 (GRCm39)	G569D	probably damaging	Het
Col11a1	T	C	3: 113,979,522 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,535,846 (GRCm39)	D939N	unknown	Het
Creb3l2	A	T	6: 37,330,569 (GRCm39)		probably benign	Het
Cuedc1	T	A	11: 88,074,080 (GRCm39)	S205T	possibly damaging	Het
Cux1	G	A	5: 136,333,572 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,035,089 (GRCm39)	M256V	probably benign	Het
Gzf1	C	A	2: 148,532,916 (GRCm39)	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,815,335 (GRCm39)	D575E	probably benign	Het
Lypd3	A	G	7: 24,340,018 (GRCm39)	M362V	probably benign	Het
Mppe1	C	A	18: 67,370,515 (GRCm39)	G61*	probably null	Het
Nr2c2	T	A	6: 92,135,397 (GRCm39)	D328E	probably benign	Het
Or6b9	T	C	7: 106,555,634 (GRCm39)	N170D	probably damaging	Het
Pfn4	T	A	12: 4,825,505 (GRCm39)	V114E	probably damaging	Het
Rab14	T	C	2: 35,073,398 (GRCm39)		probably benign	Het
Slc30a9	G	T	5: 67,499,486 (GRCm39)	G315C	probably damaging	Het
Spata16	C	T	3: 26,967,333 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,120,823 (GRCm39)	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,297,593 (GRCm39)		probably benign	Het
Vmn1r18	A	T	6: 57,367,482 (GRCm39)	F24Y	probably benign	Het
Vmn1r78	A	T	7: 11,887,165 (GRCm39)	T259S	probably benign	Het
Zc3h13	G	A	14: 75,573,439 (GRCm39)	D1527N	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
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
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

2013-06-21