Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Spag8'

167255

Institutional Source

Beutler Lab

Gene Symbol

Spag8

Ensembl Gene

ENSMUSG00000066196

Gene Name

sperm associated antigen 8

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43651335-43653594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43652777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 228 (Y228C)

Ref Sequence

ENSEMBL: ENSMUSP00000103502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000030192] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]

AlphaFold

Q3V0Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000030191

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	1.9e-45	PFAM
Pfam:Pkinase_Tyr	518	786	4.7e-39	PFAM
Pfam:Pkinase	535	785	1.2e-32	PFAM
CYCc	825	1019	3.28e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030192

SMART Domains

Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DcpS_C	53	159	7.1e-25	PFAM
Pfam:HIT	61	158	1.5e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084646
AA Change: Y228C

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196
AA Change: Y228C

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107870
AA Change: Y228C

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196
AA Change: Y228C

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107874

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	5.7e-56	PFAM
Pfam:Pkinase_Tyr	518	786	4.1e-39	PFAM
Pfam:Pkinase	533	785	3.8e-34	PFAM
CYCc	825	989	4.37e-57	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123883

Predicted Effect

probably benign
Transcript: ENSMUST00000128549

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Pkinase_Tyr	84	352	1e-39	PFAM
Pfam:Pkinase	101	351	2.6e-33	PFAM
CYCc	391	585	3.28e-111	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143160

Predicted Effect

probably benign
Transcript: ENSMUST00000149575

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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 encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Abhd5	T	C	9: 122,208,079 (GRCm39)		probably null	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Actn1	T	C	12: 80,251,852 (GRCm39)	E75G	probably damaging	Het
Adam4	A	T	12: 81,467,651 (GRCm39)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm39)	R689W	probably damaging	Het
Anxa2	T	C	9: 69,392,523 (GRCm39)	I124T	probably damaging	Het
Aph1c	T	C	9: 66,740,547 (GRCm39)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Baz2b	C	T	2: 59,778,598 (GRCm39)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,857,607 (GRCm39)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm39)	L83F	probably damaging	Het
Ccdc168	A	G	1: 44,096,130 (GRCm39)	V1656A	probably benign	Het
Cdh23	A	T	10: 60,215,122 (GRCm39)	Y1403N	possibly damaging	Het
Cic	A	T	7: 24,993,235 (GRCm39)		probably null	Het
Coro1b	T	A	19: 4,200,583 (GRCm39)	V200D	possibly damaging	Het
Csl	T	A	10: 99,593,817 (GRCm39)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 145,938,257 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,399,875 (GRCm39)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,838,016 (GRCm39)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,026,031 (GRCm39)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,772,587 (GRCm39)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,845,536 (GRCm39)	S236L	unknown	Het
Frs3	A	G	17: 48,013,903 (GRCm39)	T199A	probably benign	Het
Fsd1	A	G	17: 56,300,870 (GRCm39)	N243S	probably benign	Het
Gabra5	A	C	7: 57,058,641 (GRCm39)	L369R	probably benign	Het
Gask1b	A	G	3: 79,848,771 (GRCm39)	N506D	possibly damaging	Het
Gins4	A	G	8: 23,724,792 (GRCm39)	V54A	probably benign	Het
Gli1	T	C	10: 127,170,138 (GRCm39)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,798,594 (GRCm39)	V633A	probably damaging	Het
Gpr83	T	A	9: 14,779,493 (GRCm39)	C182S	probably null	Het
Gspt1	A	G	16: 11,038,719 (GRCm39)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,427,040 (GRCm39)	C722R	probably benign	Het
Jak1	C	T	4: 101,020,119 (GRCm39)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,027,137 (GRCm39)	V287A	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Kmo	A	G	1: 175,484,368 (GRCm39)	E366G	probably damaging	Het
Lepr	A	T	4: 101,646,541 (GRCm39)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,739,425 (GRCm39)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,690,461 (GRCm39)	Q351L	probably benign	Het
Matcap2	T	G	9: 22,341,671 (GRCm39)	L114R	probably benign	Het
Mgam	T	C	6: 40,638,617 (GRCm39)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,465,373 (GRCm39)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,077,526 (GRCm39)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm39)	I70K	probably benign	Het
Or14a257	A	G	7: 86,138,333 (GRCm39)	M142T	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Otud7a	A	G	7: 63,408,391 (GRCm39)	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,623,945 (GRCm39)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,315,982 (GRCm39)	L733*	probably null	Het
Prdm2	A	T	4: 142,862,153 (GRCm39)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Riok3	A	G	18: 12,270,363 (GRCm39)	D167G	probably damaging	Het
Rnf215	G	T	11: 4,085,451 (GRCm39)	R60L	probably damaging	Het
Scart1	G	A	7: 139,808,069 (GRCm39)	V747I	probably benign	Het
Sdk1	A	T	5: 141,985,705 (GRCm39)	H779L	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,045,519 (GRCm39)	K387*	probably null	Het
Slc13a2	T	C	11: 78,288,572 (GRCm39)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,722,386 (GRCm39)		probably null	Het
Slc32a1	T	C	2: 158,456,497 (GRCm39)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,241,025 (GRCm39)	N454D	probably benign	Het
Spata31e4	G	A	13: 50,854,443 (GRCm39)		probably null	Het
Spc25	T	C	2: 69,030,431 (GRCm39)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,846,178 (GRCm39)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,174 (GRCm39)	K481N	probably benign	Het
Tll2	G	T	19: 41,074,839 (GRCm39)	N908K	probably benign	Het
Tmem236	T	C	2: 14,197,091 (GRCm39)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,596,076 (GRCm39)	S949N	probably benign	Het
Triobp	A	G	15: 78,857,938 (GRCm39)	T1180A	probably benign	Het
Trip11	A	C	12: 101,852,419 (GRCm39)	D548E	probably benign	Het
Trpv2	T	A	11: 62,480,652 (GRCm39)		probably null	Het
Ulbp3	A	G	10: 3,075,230 (GRCm39)		noncoding transcript	Het
Vmn1r12	T	A	6: 57,136,540 (GRCm39)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,837,884 (GRCm39)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,623,876 (GRCm39)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,053 (GRCm39)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,322 (GRCm39)	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,128,933 (GRCm39)	T403A	probably benign	Het
Xirp2	A	G	2: 67,346,023 (GRCm39)	I2755V	probably benign	Het
Yjefn3	A	G	8: 70,341,729 (GRCm39)	V153A	probably benign	Het
Zfp677	C	A	17: 21,617,499 (GRCm39)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,365,273 (GRCm39)	V134I	probably benign	Het

Other mutations in Spag8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Spag8	APN	4	43,652,890 (GRCm39)	nonsense	probably null
IGL01766:Spag8	APN	4	43,653,209 (GRCm39)	unclassified	probably benign
IGL02043:Spag8	APN	4	43,653,134 (GRCm39)	unclassified	probably benign
IGL02324:Spag8	APN	4	43,651,781 (GRCm39)	missense	probably damaging	1.00
IGL02812:Spag8	APN	4	43,651,755 (GRCm39)	missense	probably damaging	0.96
IGL03336:Spag8	APN	4	43,652,114 (GRCm39)	splice site	probably benign
R1799:Spag8	UTSW	4	43,653,345 (GRCm39)	unclassified	probably benign
R1799:Spag8	UTSW	4	43,653,087 (GRCm39)	unclassified	probably benign
R2212:Spag8	UTSW	4	43,651,606 (GRCm39)	missense	probably damaging	1.00
R2338:Spag8	UTSW	4	43,652,826 (GRCm39)	missense	probably benign	0.06
R3412:Spag8	UTSW	4	43,651,606 (GRCm39)	missense	probably damaging	1.00
R3413:Spag8	UTSW	4	43,651,606 (GRCm39)	missense	probably damaging	1.00
R3414:Spag8	UTSW	4	43,651,606 (GRCm39)	missense	probably damaging	1.00
R4666:Spag8	UTSW	4	43,653,408 (GRCm39)	unclassified	probably benign
R4670:Spag8	UTSW	4	43,653,378 (GRCm39)	unclassified	probably benign
R4745:Spag8	UTSW	4	43,651,636 (GRCm39)	missense	probably damaging	0.98
R4795:Spag8	UTSW	4	43,652,035 (GRCm39)	missense	possibly damaging	0.55
R5409:Spag8	UTSW	4	43,653,134 (GRCm39)	unclassified	probably benign
R5992:Spag8	UTSW	4	43,651,534 (GRCm39)	missense	probably benign	0.06
R6192:Spag8	UTSW	4	43,652,458 (GRCm39)	missense	probably damaging	1.00
R6333:Spag8	UTSW	4	43,653,186 (GRCm39)	unclassified	probably benign
R7216:Spag8	UTSW	4	43,652,034 (GRCm39)	missense	possibly damaging	0.55
R8923:Spag8	UTSW	4	43,651,471 (GRCm39)	missense	probably damaging	0.99
R8996:Spag8	UTSW	4	43,651,998 (GRCm39)	missense	probably damaging	1.00
R9116:Spag8	UTSW	4	43,653,231 (GRCm39)	missense	unknown
R9705:Spag8	UTSW	4	43,652,366 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGTCCGTGTCGGAAGAAGTAACTC -3'
(R):5'- AGTTCAGCACCTGCATTCCTCAAG -3'

Sequencing Primer
(F):5'- GAAGTAACTCTCAGAGCCATCTTG -3'
(R):5'- TGCATTCCTCAAGGGTACAG -3'

Posted On

2014-04-13