Mutagenetix > Incidental Mutation

Incidental Mutation 'R8094:Spaca1'

630053

Institutional Source

Beutler Lab

Gene Symbol

Spaca1

Ensembl Gene

ENSMUSG00000028264

Gene Name

sperm acrosome associated 1

Synonyms

1700124L11Rik, 4930540L03Rik

MMRRC Submission

067526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8094 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34024874-34050191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34049837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 54 (E54K)

Ref Sequence

ENSEMBL: ENSMUSP00000029927 (fasta)

Gene Model

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

AlphaFold

Q9DA48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029927
AA Change: E54K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264
AA Change: E54K

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

possibly damaging
Transcript: ENSMUST00000084734
AA Change: E54K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264
AA Change: E54K

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.0%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	T	A	8: 12,279,824 (GRCm38)	L93H	unknown	Het
A2ml1	A	G	6: 128,572,082 (GRCm38)	Y246H	probably damaging	Het
Akap11	C	A	14: 78,512,973 (GRCm38)	C658F		Het
Akap2	A	G	4: 57,886,319 (GRCm38)	T859A	possibly damaging	Het
Arid2	T	G	15: 96,368,711 (GRCm38)	S547A	possibly damaging	Het
Atf1	C	A	15: 100,245,289 (GRCm38)	D46E	probably damaging	Het
Brca2	T	A	5: 150,536,169 (GRCm38)	F303Y	possibly damaging	Het
Btbd18	T	A	2: 84,667,916 (GRCm38)	S633T	possibly damaging	Het
Btg4	T	G	9: 51,119,145 (GRCm38)	F182V	probably benign	Het
Cacna1e	G	A	1: 154,561,770 (GRCm38)	S340F	probably damaging	Het
Camta2	A	G	11: 70,686,077 (GRCm38)	W41R	probably damaging	Het
Cbl	A	T	9: 44,163,399 (GRCm38)	D455E	probably benign	Het
Ccdc162	A	T	10: 41,612,868 (GRCm38)	D1208E	probably benign	Het
Cd177	A	T	7: 24,744,417 (GRCm38)	M752K	probably damaging	Het
Cep290	A	T	10: 100,544,931 (GRCm38)	H100L	possibly damaging	Het
Chrnb2	T	A	3: 89,761,391 (GRCm38)	I206F	probably damaging	Het
Cyp2c40	T	A	19: 39,802,571 (GRCm38)	Y272F	probably benign	Het
Cyp2c40	A	G	19: 39,802,565 (GRCm38)	L274S	probably benign	Het
Cyp2d22	C	A	15: 82,374,355 (GRCm38)	A102S	probably benign	Het
Cyp51	C	T	5: 4,086,490 (GRCm38)	E435K	probably benign	Het
Dchs2	T	C	3: 83,355,622 (GRCm38)	F3066L	probably benign	Het
Disp1	C	A	1: 183,087,628 (GRCm38)	R1076L	probably damaging	Het
Dkk2	C	T	3: 132,086,040 (GRCm38)	A3V	probably benign	Het
Dnah7b	T	C	1: 46,126,804 (GRCm38)	F543S	probably benign	Het
Dpt	A	T	1: 164,796,912 (GRCm38)	S61C	probably damaging	Het
Drg2	A	T	11: 60,462,270 (GRCm38)	Y243F	probably damaging	Het
Dsg2	A	G	18: 20,583,004 (GRCm38)		probably benign	Het
Dst	T	G	1: 34,188,959 (GRCm38)	L1878V	possibly damaging	Het
F5	A	G	1: 164,208,940 (GRCm38)	Y1890C	probably benign	Het
Fat1	T	C	8: 44,952,702 (GRCm38)	V830A	probably damaging	Het
Fat2	C	T	11: 55,296,139 (GRCm38)	D1294N	probably benign	Het
Fbxo15	A	G	18: 84,965,493 (GRCm38)	Y322C	probably benign	Het
Fhit	A	T	14: 10,751,666 (GRCm38)	N7K	unknown	Het
Fuk	A	G	8: 110,895,972 (GRCm38)	F108S	probably damaging	Het
Gabrb2	A	G	11: 42,597,543 (GRCm38)	I279V	probably damaging	Het
Galk2	T	C	2: 125,931,269 (GRCm38)	F207S	probably damaging	Het
Gm16486	T	C	8: 70,709,418 (GRCm38)	V420A	probably benign	Het
Gtpbp3	C	T	8: 71,488,836 (GRCm38)	L17F	possibly damaging	Het
Gucy2c	T	A	6: 136,737,448 (GRCm38)	D460V	probably benign	Het
Herc1	G	A	9: 66,493,180 (GRCm38)	V4329I	probably damaging	Het
Kirrel3	G	A	9: 35,035,164 (GRCm38)	V740M	probably damaging	Het
Macf1	C	A	4: 123,369,867 (GRCm38)	V6956L	probably damaging	Het
Mill1	C	T	7: 18,255,910 (GRCm38)	A39V	probably benign	Het
Mkln1	T	A	6: 31,492,653 (GRCm38)	Y599*	probably null	Het
Mrpl14	T	A	17: 45,698,113 (GRCm38)	L46Q	possibly damaging	Het
Myom2	G	T	8: 15,069,418 (GRCm38)	R103L	possibly damaging	Het
Naip2	A	C	13: 100,161,782 (GRCm38)	I582S	probably benign	Het
Ndst2	A	T	14: 20,728,164 (GRCm38)	V449D	probably damaging	Het
Nell1	T	A	7: 50,120,587 (GRCm38)	H131Q	probably benign	Het
Nos3	G	C	5: 24,367,220 (GRCm38)	R97P	probably benign	Het
Npc1	A	T	18: 12,194,240 (GRCm38)	F1099L	probably benign	Het
Nxpe5	T	A	5: 138,251,540 (GRCm38)	W531R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Olfr1215	T	C	2: 89,002,368 (GRCm38)		probably benign	Het
Olfr1450	A	T	19: 12,954,002 (GRCm38)	T138S	probably benign	Het
Olfr3	A	T	2: 36,812,318 (GRCm38)	L258H	probably damaging	Het
Olfr800	A	G	10: 129,660,064 (GRCm38)	D86G	probably damaging	Het
Osmr	T	C	15: 6,815,621 (GRCm38)	N889S	possibly damaging	Het
Oxct2b	A	G	4: 123,116,508 (GRCm38)	I74V	possibly damaging	Het
Phldb3	C	A	7: 24,626,709 (GRCm38)	A572D	probably damaging	Het
Pigr	A	G	1: 130,846,510 (GRCm38)	E409G	probably damaging	Het
Ptprs	T	C	17: 56,428,947 (GRCm38)	E674G	probably benign	Het
Ptpru	G	A	4: 131,793,592 (GRCm38)	T801I	possibly damaging	Het
Ralgapa1	T	A	12: 55,782,846 (GRCm38)	D200V	probably damaging	Het
Rb1cc1	A	T	1: 6,263,224 (GRCm38)	R1429*	probably null	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rnpep	A	T	1: 135,283,776 (GRCm38)	L78Q	probably damaging	Het
Rtn2	A	T	7: 19,293,866 (GRCm38)	I394F	probably damaging	Het
Satb2	A	T	1: 56,831,464 (GRCm38)	V572D	possibly damaging	Het
Sds	T	C	5: 120,478,936 (GRCm38)		probably benign	Het
Serpina10	TTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCC	12: 103,628,773 (GRCm38)		probably benign	Het
Sgo2a	T	C	1: 58,017,141 (GRCm38)	I828T	possibly damaging	Het
Slc25a33	T	A	4: 149,756,152 (GRCm38)	K79N	probably benign	Het
Slc25a51	A	C	4: 45,399,783 (GRCm38)	F136V	probably benign	Het
Slfn14	T	A	11: 83,283,293 (GRCm38)	K291*	probably null	Het
Sp100	A	G	1: 85,697,098 (GRCm38)	K403E	possibly damaging	Het
Sympk	T	G	7: 19,053,448 (GRCm38)		probably null	Het
Syne1	A	T	10: 5,117,031 (GRCm38)	V7078D	probably damaging	Het
Tas2r121	T	A	6: 132,700,809 (GRCm38)	I67L	probably benign	Het
Tha1	T	C	11: 117,868,497 (GRCm38)	K389E	probably benign	Het
Thbs2	T	A	17: 14,680,322 (GRCm38)	Q541L	probably benign	Het
Tmem161b	C	A	13: 84,222,418 (GRCm38)		probably benign	Het
Tmem94	T	C	11: 115,788,392 (GRCm38)		probably null	Het
Tnfsf13	A	G	11: 69,685,157 (GRCm38)	C35R	probably damaging	Het
Trcg1	C	A	9: 57,242,281 (GRCm38)	Q379K	probably benign	Het
Ubr4	T	C	4: 139,440,696 (GRCm38)	S1507P	probably damaging	Het
Uckl1	A	G	2: 181,573,256 (GRCm38)	I268T	probably damaging	Het
Uvrag	T	C	7: 98,991,967 (GRCm38)	K289E	possibly damaging	Het
Vmn2r104	C	A	17: 20,030,221 (GRCm38)	C596F	possibly damaging	Het
Vmn2r11	A	T	5: 109,053,760 (GRCm38)	F293I	probably damaging	Het
Vps13b	T	A	15: 35,668,906 (GRCm38)		probably null	Het
Wipf1	G	A	2: 73,437,535 (GRCm38)	P173L	possibly damaging	Het
Zfp217	G	A	2: 170,119,651 (GRCm38)	S252F	possibly damaging	Het
Zscan4f	T	A	7: 11,401,227 (GRCm38)	C187S	possibly damaging	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
R8134:Spaca1	UTSW	4	34,042,157 (GRCm38)	splice site	probably null
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'- GATGTGAATGCCAGAAAACTCTAC -3'
(R):5'- ACTGTTCGAAGCAGCCTCTC -3'

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

Posted On

2020-06-30