Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Spaca1'

218521

Institutional Source

Beutler Lab

Gene Symbol

Spaca1

Ensembl Gene

ENSMUSG00000028264

Gene Name

sperm acrosome associated 1

Synonyms

1700124L11Rik, 4930540L03Rik

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0377 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34024872-34050067 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34044267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029927] [ENSMUST00000084734] [ENSMUST00000108148]

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

Predicted Effect

probably null
Transcript: ENSMUST00000108148

SMART Domains

Protein: ENSMUSP00000103783
Gene: ENSMUSG00000028264

Domain	Start	End	E-Value	Type
transmembrane domain	109	131	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Spaca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Spaca1	APN	4	34,029,077 (GRCm39)	missense	probably damaging	0.99
IGL01871:Spaca1	APN	4	34,040,894 (GRCm39)	missense	probably damaging	0.98
F5770:Spaca1	UTSW	4	34,039,311 (GRCm39)	missense	probably damaging	0.99
FR4342:Spaca1	UTSW	4	34,049,838 (GRCm39)	small insertion	probably benign
FR4548:Spaca1	UTSW	4	34,049,856 (GRCm39)	small insertion	probably benign
FR4737:Spaca1	UTSW	4	34,049,836 (GRCm39)	small insertion	probably benign
FR4976:Spaca1	UTSW	4	34,049,849 (GRCm39)	small insertion	probably benign
FR4976:Spaca1	UTSW	4	34,049,844 (GRCm39)	small insertion	probably benign
R1861:Spaca1	UTSW	4	34,044,206 (GRCm39)	missense	probably damaging	0.99
R3105:Spaca1	UTSW	4	34,028,468 (GRCm39)	missense	probably damaging	1.00
R4930:Spaca1	UTSW	4	34,044,236 (GRCm39)	missense	possibly damaging	0.65
R5030:Spaca1	UTSW	4	34,039,247 (GRCm39)	missense	possibly damaging	0.65
R5137:Spaca1	UTSW	4	34,029,095 (GRCm39)	missense	probably damaging	1.00
R5264:Spaca1	UTSW	4	34,049,863 (GRCm39)	missense	possibly damaging	0.53
R6158:Spaca1	UTSW	4	34,029,176 (GRCm39)	missense	probably damaging	0.99
R6824:Spaca1	UTSW	4	34,049,869 (GRCm39)	missense	probably benign	0.00
R8039:Spaca1	UTSW	4	34,044,207 (GRCm39)	missense	probably damaging	0.99
R8094:Spaca1	UTSW	4	34,049,837 (GRCm39)	missense	possibly damaging	0.55
R8134:Spaca1	UTSW	4	34,042,157 (GRCm39)	splice site	probably null
R9120:Spaca1	UTSW	4	34,029,168 (GRCm39)	missense	probably damaging	0.97
RF006:Spaca1	UTSW	4	34,049,853 (GRCm39)	small insertion	probably benign
RF017:Spaca1	UTSW	4	34,049,853 (GRCm39)	small insertion	probably benign
RF032:Spaca1	UTSW	4	34,049,854 (GRCm39)	small insertion	probably benign
RF043:Spaca1	UTSW	4	34,049,846 (GRCm39)	small insertion	probably benign
RF044:Spaca1	UTSW	4	34,049,854 (GRCm39)	small insertion	probably benign
RF044:Spaca1	UTSW	4	34,049,846 (GRCm39)	small insertion	probably benign
RF060:Spaca1	UTSW	4	34,049,841 (GRCm39)	small insertion	probably benign
V7580:Spaca1	UTSW	4	34,039,311 (GRCm39)	missense	probably damaging	0.99
V7581:Spaca1	UTSW	4	34,039,311 (GRCm39)	missense	probably damaging	0.99
V7582:Spaca1	UTSW	4	34,039,311 (GRCm39)	missense	probably damaging	0.99
V7583:Spaca1	UTSW	4	34,039,311 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGAATGCATCTGCTAGATCCACTG -3'
(R):5'- TGCAAGGAGCAACTTTGCTTTCCTG -3'

Sequencing Primer
(F):5'- ATCTGCTAGATCCACTGAAGATCTC -3'
(R):5'- GGACAATTACTCGACCCCTT -3'

Posted On

2014-08-14