Mutagenetix > Incidental Mutation

Incidental Mutation 'R1861:Spaca1'

203882

Institutional Source

Beutler Lab

Gene Symbol

Spaca1

Ensembl Gene

ENSMUSG00000028264

Gene Name

sperm acrosome associated 1

Synonyms

1700124L11Rik, 4930540L03Rik

MMRRC Submission

039884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34024874-34050191 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34044206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 96 (V96A)

Ref Sequence

ENSEMBL: ENSMUSP00000029927 (fasta)

Gene Model

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

AlphaFold

Q9DA48

Predicted Effect

probably damaging
Transcript: ENSMUST00000029927
AA Change: V96A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264
AA Change: V96A

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
AA Change: V96A

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264
AA Change: V96A

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

Meta Mutation Damage Score

0.1158

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (117/121)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,783	Y206C	probably damaging	Het
2610507B11Rik	C	T	11: 78,287,929		probably benign	Het
4930579C12Rik	C	A	9: 89,152,831		noncoding transcript	Het
4933417A18Rik	A	T	13: 34,932,507	I80F	possibly damaging	Het
9530053A07Rik	A	G	7: 28,154,732	Y1707C	probably damaging	Het
Abra	C	A	15: 41,869,034	R212L	probably damaging	Het
Actr1a	T	C	19: 46,384,275	E87G	probably damaging	Het
Adam26a	A	G	8: 43,569,541	V304A	possibly damaging	Het
Alg2	T	A	4: 47,471,670	K379N	probably benign	Het
Alk	G	T	17: 71,874,938		probably benign	Het
Arhgef17	A	G	7: 100,882,268	Y331H	probably damaging	Het
Art3	A	G	5: 92,412,235		probably benign	Het
Asap1	G	A	15: 64,135,798		probably benign	Het
Atad2	A	T	15: 58,096,718		probably null	Het
Atp8b5	G	A	4: 43,372,906	R1150H	probably damaging	Het
B020004J07Rik	A	T	4: 101,836,938	D249E	probably benign	Het
Brdt	T	C	5: 107,359,458	S575P	probably benign	Het
Capn3	T	A	2: 120,486,482		probably benign	Het
Casd1	T	A	6: 4,640,951	Y691N	probably damaging	Het
Ccdc127	T	G	13: 74,356,979	H215Q	possibly damaging	Het
Cenpe	T	C	3: 135,268,979	L2300P	probably damaging	Het
Clasp1	T	C	1: 118,570,931	F898L	possibly damaging	Het
Clcn1	C	A	6: 42,313,991	P933Q	possibly damaging	Het
Cntn3	T	A	6: 102,245,071	N489I	probably benign	Het
Col16a1	T	C	4: 130,061,724		probably benign	Het
Col24a1	G	A	3: 145,537,267		probably null	Het
Col8a2	C	T	4: 126,311,624		probably benign	Het
Cpd	T	C	11: 76,784,382		probably benign	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Cyp2c40	T	C	19: 39,786,875	Y311C	probably benign	Het
D230025D16Rik	A	G	8: 105,240,071	E150G	probably null	Het
Dennd5b	T	A	6: 149,068,262	N231I	probably damaging	Het
Dgkh	T	A	14: 78,578,792	H936L	probably benign	Het
Dmtf1	T	C	5: 9,120,347		probably null	Het
Dnaic2	T	C	11: 114,752,951	V481A	possibly damaging	Het
Dpyd	T	G	3: 118,917,131	V396G	probably damaging	Het
Elmo3	A	G	8: 105,308,581	D448G	probably damaging	Het
Emsy	A	T	7: 98,641,615	V100E	probably damaging	Het
Erbb2	T	C	11: 98,412,737		probably null	Het
Faah	T	C	4: 116,008,235	K85R	probably benign	Het
Fam149a	A	T	8: 45,339,362	Y686*	probably null	Het
Fat4	T	C	3: 39,010,484	V4863A	probably benign	Het
Fbxl8	A	G	8: 105,268,929	T358A	probably damaging	Het
Fgfr3	A	G	5: 33,729,746	T165A	probably damaging	Het
Fnbp1l	A	T	3: 122,560,932	H180Q	probably damaging	Het
Gm8180	T	A	14: 43,783,739	H4L	probably benign	Het
Gon4l	T	C	3: 88,895,487	V1135A	probably damaging	Het
Gstcd	G	T	3: 132,983,107	N627K	probably damaging	Het
Gtf2a1l	G	A	17: 88,714,954	V458I	probably damaging	Het
Gtf3c3	T	C	1: 54,438,838	E26G	possibly damaging	Het
Hrct1	A	T	4: 43,727,404	T15S	probably benign	Het
Ift122	C	A	6: 115,891,928	R459S	probably damaging	Het
Irf1	T	A	11: 53,774,357	C187S	possibly damaging	Het
Kcnh7	A	G	2: 62,777,392	V615A	probably damaging	Het
Kif1c	T	C	11: 70,703,342	S61P	probably damaging	Het
Mamdc2	T	C	19: 23,359,153	T331A	probably damaging	Het
Mark2	T	C	19: 7,290,763	D25G	possibly damaging	Het
Me2	T	C	18: 73,785,714	D432G	probably benign	Het
Mfap3	T	C	11: 57,528,206	V64A	probably benign	Het
Nadk2	T	A	15: 9,108,311	M416K	probably benign	Het
Ndufs1	C	T	1: 63,147,417	G631D	probably benign	Het
Nomo1	G	A	7: 46,078,101	V1055I	probably benign	Het
Nuggc	T	A	14: 65,642,001		probably benign	Het
Nwd2	T	C	5: 63,804,854	S594P	probably damaging	Het
Olfr1197	T	G	2: 88,729,330	I90L	probably damaging	Het
Olfr1272	C	A	2: 90,282,158	C139F	probably damaging	Het
Olfr1467	T	A	19: 13,365,341	S238T	possibly damaging	Het
Olfr250	C	T	9: 38,367,606	S10L	probably benign	Het
Olfr273	T	A	4: 52,856,373	I47L	probably benign	Het
Olfr414	T	C	1: 174,431,091	I221T	probably damaging	Het
Palm2	A	G	4: 57,709,468	I138V	probably damaging	Het
Pcyt2	G	A	11: 120,611,142	P332S	probably benign	Het
Phf14	A	T	6: 11,987,611	M630L	probably benign	Het
Piezo1	T	C	8: 122,495,750	N919S	possibly damaging	Het
Pif1	A	T	9: 65,589,453	I283F	probably damaging	Het
Pknox2	G	A	9: 36,923,661	H171Y	probably damaging	Het
Prkg2	T	A	5: 98,947,416	D632V	probably damaging	Het
Prr29	G	A	11: 106,375,438	A6T	probably damaging	Het
Rims1	T	A	1: 22,596,558	Y114F	probably damaging	Het
Ryr1	A	T	7: 29,009,552	D4796E	unknown	Het
Scnn1b	G	A	7: 121,914,261	C399Y	probably damaging	Het
Scp2	T	C	4: 108,091,321	Y153C	probably damaging	Het
Sema3d	A	G	5: 12,497,603	K164R	probably benign	Het
Siglecf	A	G	7: 43,352,224	T153A	probably benign	Het
Siglecf	A	G	7: 43,355,543	N399S	probably benign	Het
Skint2	T	C	4: 112,647,118		probably benign	Het
Slc22a8	G	A	19: 8,606,139	R236H	probably damaging	Het
Slc25a40	T	A	5: 8,442,431		probably null	Het
Slc26a5	T	C	5: 21,816,958	D490G	possibly damaging	Het
Slc26a7	G	T	4: 14,522,873	D482E	probably benign	Het
Smarca2	A	T	19: 26,623,884	M77L	probably benign	Het
Sos2	A	G	12: 69,617,363	L449P	probably damaging	Het
Spata31d1b	T	A	13: 59,717,336	I766N	possibly damaging	Het
Specc1l	T	C	10: 75,309,859	Y1113H	probably damaging	Het
Speg	A	G	1: 75,389,005	R677G	probably damaging	Het
Taf5l	A	T	8: 123,997,990	D363E	probably damaging	Het
Tmem208	A	G	8: 105,334,806	K155E	possibly damaging	Het
Tppp2	A	C	14: 51,920,605	N169T	probably benign	Het
Trrap	T	A	5: 144,815,917		probably null	Het
Ttll6	T	A	11: 96,138,874	Y204*	probably null	Het
Ttn	A	T	2: 76,772,648	I18410K	probably benign	Het
V1rd19	T	A	7: 24,003,724	V205D	probably damaging	Het
Vdac3	A	T	8: 22,580,499	I132K	possibly damaging	Het
Vmn2r95	T	G	17: 18,452,268	C756G	probably damaging	Het
Wdr63	T	C	3: 146,083,046	Y260C	probably damaging	Het
Zc3h15	A	G	2: 83,663,990	T421A	unknown	Het
Zc3hc1	T	C	6: 30,374,838	T235A	probably benign	Het
Zcchc14	A	G	8: 121,609,251		probably benign	Het
Zfp318	T	A	17: 46,411,440	N1456K	possibly damaging	Het
Zfp606	A	G	7: 12,480,931		probably benign	Het
Zfp811	T	A	17: 32,797,425	H546L	probably damaging	Het
Zfp94	A	T	7: 24,309,116	Y33N	probably damaging	Het
Zfyve9	G	T	4: 108,682,295		probably benign	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
FR4342:Spaca1	UTSW	4	34049838	small insertion	probably benign
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
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'- ATCTCCCATCTTTGAACATCTGTGAAG -3'
(R):5'- GAGTGCTCTTAAAGGTTTAGGATTC -3'

Sequencing Primer
(F):5'- GCTAGTTTCTATGCAAAAGTACCTC -3'
(R):5'- AAGACGCTTCTCACTTCTA -3'

Posted On

2014-06-23