Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Spaca1'

489688

Institutional Source

Beutler Lab

Gene Symbol

Spaca1

Ensembl Gene

ENSMUSG00000028264

Gene Name

sperm acrosome associated 1

Synonyms

1700124L11Rik, 4930540L03Rik

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34024872-34050067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34029176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 99 (M99T)

Ref Sequence

ENSEMBL: ENSMUSP00000103783 (fasta)

Gene Model

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

AlphaFold

Q9DA48

Predicted Effect

probably damaging
Transcript: ENSMUST00000029927
AA Change: M217T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264
AA Change: M217T

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 damaging
Transcript: ENSMUST00000084734
AA Change: M217T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264
AA Change: M217T

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 damaging
Transcript: ENSMUST00000108148
AA Change: M99T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103783
Gene: ENSMUSG00000028264
AA Change: M99T

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

Meta Mutation Damage Score

0.1317

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,217,410 (GRCm39)	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,246,599 (GRCm39)	T32A	probably benign	Het
Adprhl1	C	T	8: 13,274,977 (GRCm39)	V594M	possibly damaging	Het
Ano3	A	T	2: 110,496,220 (GRCm39)	Y845N	probably damaging	Het
Arhgap24	A	T	5: 103,040,778 (GRCm39)	I575L	probably benign	Het
Aurka	A	C	2: 172,205,516 (GRCm39)		probably null	Het
C1qtnf5	A	T	9: 44,020,267 (GRCm39)		probably benign	Het
Cacnb2	A	G	2: 14,990,412 (GRCm39)	D454G	possibly damaging	Het
Chchd5	T	C	2: 128,972,437 (GRCm39)	L87P	probably damaging	Het
Col7a1	G	T	9: 108,793,671 (GRCm39)	R1377L	unknown	Het
Cpne8	A	C	15: 90,456,191 (GRCm39)	S191A	probably damaging	Het
Dhx30	A	T	9: 109,916,098 (GRCm39)	I671N	probably damaging	Het
Dnah12	A	T	14: 26,495,642 (GRCm39)	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,148,556 (GRCm39)	M272V	probably damaging	Het
Fat4	A	T	3: 39,037,411 (GRCm39)	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401 (GRCm39)	L1407F	probably damaging	Het
Fry	T	C	5: 150,378,037 (GRCm39)	S410P	probably damaging	Het
Gm11565	T	A	11: 99,805,744 (GRCm39)	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311 (GRCm39)	R30*	probably null	Het
Htt	T	C	5: 35,064,430 (GRCm39)	I2943T	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lmo7	T	A	14: 102,137,573 (GRCm39)	D247E	probably benign	Het
Mastl	G	T	2: 23,022,784 (GRCm39)	N646K	possibly damaging	Het
Mei4	G	T	9: 81,809,629 (GRCm39)	L237F	probably damaging	Het
Mettl27	C	T	5: 134,969,430 (GRCm39)	P170S	possibly damaging	Het
Mgam	T	A	6: 40,734,648 (GRCm39)	I896K	probably damaging	Het
Mix23	T	A	16: 35,910,299 (GRCm39)	V118D	probably damaging	Het
Moxd1	T	A	10: 24,160,675 (GRCm39)	C443S	probably damaging	Het
Myo18b	A	T	5: 113,022,038 (GRCm39)	N451K	probably benign	Het
Myo7b	T	C	18: 32,121,602 (GRCm39)	I768V	probably benign	Het
Nos1	A	C	5: 118,005,639 (GRCm39)	I120L	probably benign	Het
Nsd1	T	C	13: 55,393,434 (GRCm39)	V345A	probably benign	Het
Or1j15	A	T	2: 36,459,128 (GRCm39)	T173S	probably benign	Het
Or2aj5	C	A	16: 19,424,675 (GRCm39)	V248F	probably damaging	Het
Or4c11c	T	C	2: 88,661,490 (GRCm39)	F10L	probably damaging	Het
Or5t15	A	G	2: 86,681,859 (GRCm39)	L61P	possibly damaging	Het
Or8g50	C	T	9: 39,648,372 (GRCm39)	T87I	probably benign	Het
Pdzph1	T	G	17: 59,280,622 (GRCm39)	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,824,940 (GRCm39)	L546*	probably null	Het
Pla2g4f	T	C	2: 120,131,552 (GRCm39)	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,266,596 (GRCm39)	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,679,767 (GRCm39)	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,694,565 (GRCm39)	D35G	probably damaging	Het
Rock2	A	G	12: 17,004,919 (GRCm39)	D424G	probably benign	Het
Scg2	A	T	1: 79,413,117 (GRCm39)	D495E	probably damaging	Het
Slc39a2	G	A	14: 52,131,681 (GRCm39)		probably null	Het
Snrnp48	T	A	13: 38,394,212 (GRCm39)	Y100*	probably null	Het
Specc1	T	G	11: 62,008,950 (GRCm39)	F235L	probably damaging	Het
St13	A	T	15: 81,283,802 (GRCm39)		probably null	Het
Swap70	T	A	7: 109,869,230 (GRCm39)	M341K	probably damaging	Het
Synj2	A	G	17: 6,036,487 (GRCm39)	D67G	probably benign	Het
Tmem135	T	A	7: 88,805,652 (GRCm39)	I251F	probably benign	Het
Tmem87a	A	T	2: 120,190,584 (GRCm39)		probably null	Het
Tom1l2	C	T	11: 60,123,753 (GRCm39)	D128N	probably damaging	Het
Tpx2	C	A	2: 152,715,024 (GRCm39)	H82N	probably benign	Het
Trip12	A	T	1: 84,738,733 (GRCm39)	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,128,561 (GRCm39)	T153A	probably benign	Het
Utrn	C	T	10: 12,566,566 (GRCm39)	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,013,274 (GRCm39)	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,583,104 (GRCm39)	D37V	probably damaging	Het
Vwce	C	T	19: 10,621,585 (GRCm39)	R206C	possibly damaging	Het
Wrn	G	T	8: 33,809,200 (GRCm39)	F265L	probably damaging	Het
Zfp472	T	A	17: 33,197,363 (GRCm39)	C479*	probably null	Het
Zfp831	A	T	2: 174,485,651 (GRCm39)	T109S	possibly damaging	Het
Znfx1	G	T	2: 166,898,646 (GRCm39)	Q93K	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
R0377:Spaca1	UTSW	4	34,044,267 (GRCm39)	splice site	probably null
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
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'- TTTCACTGCAAATGCGTGGG -3'
(R):5'- CCAGGATAGTCTGTTTGAGAAAGTC -3'

Sequencing Primer
(F):5'- ACTGCAAATGCGTGGGGATTG -3'
(R):5'- GAGAAAGTCCTCTTCCCAGCTTG -3'

Posted On

2017-10-10