Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Spaca1'

511220

Institutional Source

Beutler Lab

Gene Symbol

Spaca1

Ensembl Gene

ENSMUSG00000028264

Gene Name

sperm acrosome associated 1

Synonyms

1700124L11Rik, 4930540L03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4342 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

34024874-34050191 bp(-) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCTCTC to GCTCTCACTCTC at 34049838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029927] [ENSMUST00000084734]

AlphaFold

Q9DA48

Predicted Effect

probably benign
Transcript: ENSMUST00000029927

SMART Domains

Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	46	79	N/A	INTRINSIC
transmembrane domain	228	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084734

SMART Domains

Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	46	79	N/A	INTRINSIC
transmembrane domain	228	250	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice are infertile and display globozoospermia and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 124,839,833		probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,742		probably benign	Het
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
AF366264	G	C	8: 13,837,613	H159Q	probably benign	Het
Ankrd35	TCCCC	TCCC	3: 96,683,515		probably null	Het
Anxa2	CCC	CCCACC	9: 69,480,205		probably benign	Het
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,281,999		probably benign	Homo
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 109,033,418		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,397,793		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,669,524		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,526		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Defa29	C	G	8: 21,326,144	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,738,206		probably null	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 62,843,026		probably benign	Homo
E4f1	GC	GCCCC	17: 24,455,197		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,299,941		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384		probably null	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,378,125		probably benign	Het
Fbxo22	A	C	9: 55,221,070		probably null	Het
Flg	G	A	3: 93,290,513		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,182,743		probably benign	Homo
Gm13103	AA	AATA	4: 143,851,643		probably null	Homo
Gm14496	A	C	2: 181,995,906	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,066		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099		probably benign	Het
Gm7534	G	GCTC	4: 134,202,631		probably benign	Homo
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,178		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Homo
Hist1h1t	TGTGG	TG	13: 23,695,913		probably benign	Homo
Hoxa3	G	GCTT	6: 52,170,130		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Klra10	G	A	6: 130,272,747	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,386,203		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 93,018,247		probably benign	Het
Mak16	T	G,A	8: 31,161,749	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,988		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,275,994		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,419,706		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,599,762		probably benign	Het
Naip1	C	T	13: 100,425,471	R1062K	probably benign	Het
Ndel1	G	A	11: 68,833,409	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 34,854,089		probably benign	Het
Olfr495	A	G	7: 108,395,893	T258A	probably benign	Het
Olfr495	G	A	7: 108,395,898	M259I	probably benign	Het
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
P4ha2	GTGTTGCTG	GTG	11: 54,110,251		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,534,775		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,509		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,479,861		probably benign	Homo
Pramef25	G	A	4: 143,949,742	T264M	probably damaging	Het
Pramef25	AAGAG	AAG	4: 143,949,757		probably null	Het
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Raet1d	A	G	10: 22,371,559	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 84,956,168		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 84,956,178		probably benign	Het
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,569,757		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,587,488		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,249		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 100,056,252		probably benign	Homo
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	TGG	TGGGGG	Y: 2,662,835		probably benign	Het
Sry	GGT	GGTTGT	Y: 2,662,836		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839		probably benign	Homo
Sry	CTGCTGGTG	CTG	Y: 2,663,146		probably benign	Het
Tdpoz3	C	T	3: 93,826,512	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,796,880		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,648,300		probably benign	Homo
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 150,934,394		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Trav6n-5	GCTT	G	14: 53,104,912		probably benign	Homo
Triobp	G	GTCA	15: 78,993,392		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,560,072		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Ubtf	TC	TCCCC	11: 102,306,959		probably benign	Het
Vmn2r125	G	A	4: 156,350,965	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,942,149		probably benign	Het
Zfp28	G	A	7: 6,394,863	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,907,465		probably benign	Het
Zfp335	C	CCCC	2: 164,907,477		probably benign	Het
Zfp428	G	A	7: 24,515,081	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,396,650	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,680,780		probably benign	Het
Zfp93	G	A	7: 24,275,586	R332H	possibly damaging	Het

Other mutations in Spaca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Spaca1	APN	4	34029077	missense	probably damaging	0.99
IGL01871:Spaca1	APN	4	34040894	missense	probably damaging	0.98
F5770:Spaca1	UTSW	4	34039311	missense	probably damaging	0.99
FR4548:Spaca1	UTSW	4	34049856	small insertion	probably benign
FR4737:Spaca1	UTSW	4	34049836	small insertion	probably benign
FR4976:Spaca1	UTSW	4	34049844	small insertion	probably benign
FR4976:Spaca1	UTSW	4	34049849	small insertion	probably benign
R0377:Spaca1	UTSW	4	34044267	splice site	probably null
R1861:Spaca1	UTSW	4	34044206	missense	probably damaging	0.99
R3105:Spaca1	UTSW	4	34028468	missense	probably damaging	1.00
R4930:Spaca1	UTSW	4	34044236	missense	possibly damaging	0.65
R5030:Spaca1	UTSW	4	34039247	missense	possibly damaging	0.65
R5137:Spaca1	UTSW	4	34029095	missense	probably damaging	1.00
R5264:Spaca1	UTSW	4	34049863	missense	possibly damaging	0.53
R6158:Spaca1	UTSW	4	34029176	missense	probably damaging	0.99
R6824:Spaca1	UTSW	4	34049869	missense	probably benign	0.00
R8039:Spaca1	UTSW	4	34044207	missense	probably damaging	0.99
R8094:Spaca1	UTSW	4	34049837	missense	possibly damaging	0.55
R8134:Spaca1	UTSW	4	34042157	splice site	probably null
R9120:Spaca1	UTSW	4	34029168	missense	probably damaging	0.97
RF006:Spaca1	UTSW	4	34049853	small insertion	probably benign
RF017:Spaca1	UTSW	4	34049853	small insertion	probably benign
RF032:Spaca1	UTSW	4	34049854	small insertion	probably benign
RF043:Spaca1	UTSW	4	34049846	small insertion	probably benign
RF044:Spaca1	UTSW	4	34049846	small insertion	probably benign
RF044:Spaca1	UTSW	4	34049854	small insertion	probably benign
RF060:Spaca1	UTSW	4	34049841	small insertion	probably benign
V7580:Spaca1	UTSW	4	34039311	missense	probably damaging	0.99
V7581:Spaca1	UTSW	4	34039311	missense	probably damaging	0.99
V7582:Spaca1	UTSW	4	34039311	missense	probably damaging	0.99
V7583:Spaca1	UTSW	4	34039311	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGCCAGAAAACTCTACAGAAGATG -3'
(R):5'- ACTGTTCGAAGCAGCCTCTC -3'

Sequencing Primer
(F):5'- AAAAGGATGGGCTTCTGG -3'
(R):5'- GAAGCAGCCTCTCCTCCAG -3'

Posted On

2018-04-05