Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Spaca1'

651988

Institutional Source

Beutler Lab

Gene Symbol

Spaca1

Ensembl Gene

ENSMUSG00000028264

Gene Name

sperm acrosome associated 1

Synonyms

1700124L11Rik, 4930540L03Rik

MMRRC Submission

067562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34024874-34050191 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34042157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081785 (fasta)

Gene Model

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

AlphaFold

Q9DA48

Predicted Effect

probably null
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 null
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 benign
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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353 (GRCm38)	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064 (GRCm38)	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581 (GRCm38)	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458 (GRCm38)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222 (GRCm38)		probably null	Het
Bard1	A	T	1: 71,067,138 (GRCm38)	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673 (GRCm38)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504 (GRCm38)	I487F		Het
Cadm4	A	G	7: 24,503,605 (GRCm38)	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075 (GRCm38)	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035 (GRCm38)	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448 (GRCm38)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920 (GRCm38)	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516 (GRCm38)	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786 (GRCm38)	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042 (GRCm38)	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550 (GRCm38)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471 (GRCm38)	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495 (GRCm38)	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839 (GRCm38)	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136 (GRCm38)	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557 (GRCm38)	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380 (GRCm38)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704 (GRCm38)	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986 (GRCm38)	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660 (GRCm38)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892 (GRCm38)	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236 (GRCm38)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,577,977 (GRCm38)	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615 (GRCm38)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369 (GRCm38)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834 (GRCm38)		probably benign	Het
Lrrn3	T	C	12: 41,453,048 (GRCm38)	I423M	probably damaging	Het
Magi2	T	A	5: 20,391,394 (GRCm38)	D283E	probably benign	Het
Magi2	T	G	5: 20,391,367 (GRCm38)	F274L	probably damaging	Het
Map3k19	A	C	1: 127,823,755 (GRCm38)	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888 (GRCm38)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249 (GRCm38)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759 (GRCm38)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314 (GRCm38)	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627 (GRCm38)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,667,767 (GRCm38)	I153N	possibly damaging	Het
Or2bd2	T	C	7: 6,438,923 (GRCm38)		probably benign	Het
Pcdhgc3	G	A	18: 37,806,863 (GRCm38)	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471 (GRCm38)	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318 (GRCm38)	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469 (GRCm38)	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163 (GRCm38)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542 (GRCm38)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420 (GRCm38)		probably benign	Het
Scaf11	T	C	15: 96,420,711 (GRCm38)	N324S	probably damaging	Het
Sun3	G	T	11: 9,029,346 (GRCm38)	D118E	probably benign	Het
Svop	C	T	5: 114,042,931 (GRCm38)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569 (GRCm38)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173 (GRCm38)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422 (GRCm38)	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374 (GRCm38)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490 (GRCm38)		probably null	Het
Vps13a	A	G	19: 16,654,354 (GRCm38)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651 (GRCm38)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741 (GRCm38)	V92E	probably benign	Het

Other mutations in Spaca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Spaca1	APN	4	34,029,077 (GRCm38)	missense	probably damaging	0.99
IGL01871:Spaca1	APN	4	34,040,894 (GRCm38)	missense	probably damaging	0.98
F5770:Spaca1	UTSW	4	34,039,311 (GRCm38)	missense	probably damaging	0.99
FR4342:Spaca1	UTSW	4	34,049,838 (GRCm38)	small insertion	probably benign
FR4548:Spaca1	UTSW	4	34,049,856 (GRCm38)	small insertion	probably benign
FR4737:Spaca1	UTSW	4	34,049,836 (GRCm38)	small insertion	probably benign
FR4976:Spaca1	UTSW	4	34,049,849 (GRCm38)	small insertion	probably benign
FR4976:Spaca1	UTSW	4	34,049,844 (GRCm38)	small insertion	probably benign
R0377:Spaca1	UTSW	4	34,044,267 (GRCm38)	splice site	probably null
R1861:Spaca1	UTSW	4	34,044,206 (GRCm38)	missense	probably damaging	0.99
R3105:Spaca1	UTSW	4	34,028,468 (GRCm38)	missense	probably damaging	1.00
R4930:Spaca1	UTSW	4	34,044,236 (GRCm38)	missense	possibly damaging	0.65
R5030:Spaca1	UTSW	4	34,039,247 (GRCm38)	missense	possibly damaging	0.65
R5137:Spaca1	UTSW	4	34,029,095 (GRCm38)	missense	probably damaging	1.00
R5264:Spaca1	UTSW	4	34,049,863 (GRCm38)	missense	possibly damaging	0.53
R6158:Spaca1	UTSW	4	34,029,176 (GRCm38)	missense	probably damaging	0.99
R6824:Spaca1	UTSW	4	34,049,869 (GRCm38)	missense	probably benign	0.00
R8039:Spaca1	UTSW	4	34,044,207 (GRCm38)	missense	probably damaging	0.99
R8094:Spaca1	UTSW	4	34,049,837 (GRCm38)	missense	possibly damaging	0.55
R9120:Spaca1	UTSW	4	34,029,168 (GRCm38)	missense	probably damaging	0.97
RF006:Spaca1	UTSW	4	34,049,853 (GRCm38)	small insertion	probably benign
RF017:Spaca1	UTSW	4	34,049,853 (GRCm38)	small insertion	probably benign
RF032:Spaca1	UTSW	4	34,049,854 (GRCm38)	small insertion	probably benign
RF043:Spaca1	UTSW	4	34,049,846 (GRCm38)	small insertion	probably benign
RF044:Spaca1	UTSW	4	34,049,854 (GRCm38)	small insertion	probably benign
RF044:Spaca1	UTSW	4	34,049,846 (GRCm38)	small insertion	probably benign
RF060:Spaca1	UTSW	4	34,049,841 (GRCm38)	small insertion	probably benign
V7580:Spaca1	UTSW	4	34,039,311 (GRCm38)	missense	probably damaging	0.99
V7581:Spaca1	UTSW	4	34,039,311 (GRCm38)	missense	probably damaging	0.99
V7582:Spaca1	UTSW	4	34,039,311 (GRCm38)	missense	probably damaging	0.99
V7583:Spaca1	UTSW	4	34,039,311 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACTTGGATTCACCTCCAGG -3'
(R):5'- CCCAACTCTGAAAATTTCCATGATC -3'

Sequencing Primer
(F):5'- TGGATTCACCTCCAGGGCATC -3'
(R):5'- TTATTGGCTTTAGGAAGCATA -3'

Posted On

2020-09-18