Mutagenetix > Incidental Mutation

Incidental Mutation 'R7216:Spag8'

561444

Institutional Source

Beutler Lab

Gene Symbol

Spag8

Ensembl Gene

ENSMUSG00000066196

Gene Name

sperm associated antigen 8

Synonyms

MMRRC Submission

045288-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43651335-43653594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43652034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 350 (V350A)

Ref Sequence

ENSEMBL: ENSMUSP00000081696 (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: V350A

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196
AA Change: V350A

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: V350A

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196
AA Change: V350A

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,240 (GRCm39)	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,324,090 (GRCm39)	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,822,839 (GRCm39)	C165S	probably benign	Het
Atp2c1	A	T	9: 105,344,930 (GRCm39)	D102E	probably benign	Het
Capn8	C	A	1: 182,426,363 (GRCm39)	R233S	possibly damaging	Het
Cd48	T	C	1: 171,523,390 (GRCm39)	S78P	probably damaging	Het
Clasp1	T	A	1: 118,475,648 (GRCm39)	D944E	probably benign	Het
Clip2	A	G	5: 134,531,771 (GRCm39)	M678T	probably benign	Het
Clmp	T	C	9: 40,672,205 (GRCm39)	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,845,694 (GRCm39)	V356D	probably damaging	Het
Copg2	A	T	6: 30,862,535 (GRCm39)	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,197,928 (GRCm39)	P229S	unknown	Het
Dgke	T	C	11: 88,941,163 (GRCm39)	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,615,736 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,186,706 (GRCm39)	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Efcab3	A	T	11: 104,771,375 (GRCm39)	K2633N	possibly damaging	Het
Egln2	T	C	7: 26,859,254 (GRCm39)	D365G	probably damaging	Het
Epha4	T	C	1: 77,421,621 (GRCm39)	D287G	probably damaging	Het
Fat4	A	G	3: 38,945,192 (GRCm39)	T1362A	probably damaging	Het
Flt4	A	G	11: 49,525,508 (GRCm39)	T685A	possibly damaging	Het
Fras1	T	C	5: 96,887,173 (GRCm39)	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,547,005 (GRCm39)	E52G	possibly damaging	Het
Gm5093	A	T	17: 46,751,014 (GRCm39)	D4E	not run	Het
Gm6370	A	T	5: 146,430,723 (GRCm39)	T303S	probably benign	Het
Gpr161	A	G	1: 165,134,115 (GRCm39)	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038 (GRCm39)	L254P	probably damaging	Het
H2-M9	C	T	17: 36,951,594 (GRCm39)	V294I	probably benign	Het
Insr	T	A	8: 3,253,034 (GRCm39)	N375I	possibly damaging	Het
Ints1	T	C	5: 139,754,739 (GRCm39)	N600S	possibly damaging	Het
Ints10	A	G	8: 69,274,809 (GRCm39)	N628S	probably damaging	Het
Irf2	A	G	8: 47,246,591 (GRCm39)	T20A	probably benign	Het
Irs1	T	A	1: 82,267,476 (GRCm39)	T247S	probably damaging	Het
Islr	C	T	9: 58,064,250 (GRCm39)	S419N	unknown	Het
Kcna2	T	A	3: 107,012,109 (GRCm39)	I230N	probably damaging	Het
Kif3c	C	A	12: 3,416,126 (GRCm39)	A49E	probably benign	Het
Kifap3	A	T	1: 163,623,558 (GRCm39)	K108N	probably damaging	Het
Lama3	T	A	18: 12,563,057 (GRCm39)	F527I	probably damaging	Het
Layn	A	G	9: 50,988,352 (GRCm39)		probably benign	Het
Lims2	G	T	18: 32,090,315 (GRCm39)	W276L	probably damaging	Het
Lsp1	T	C	7: 142,042,179 (GRCm39)	L133S	probably damaging	Het
Map3k6	T	G	4: 132,974,211 (GRCm39)	V536G	probably damaging	Het
Med7	T	A	11: 46,331,681 (GRCm39)	L92H	probably damaging	Het
Mllt1	A	G	17: 57,234,042 (GRCm39)	V48A	probably damaging	Het
Mtcl2	T	C	2: 156,860,290 (GRCm39)	R1650G	possibly damaging	Het
Neurl4	T	A	11: 69,801,088 (GRCm39)	V1153E	probably damaging	Het
Nkx2-1	A	C	12: 56,581,587 (GRCm39)	C87G	probably damaging	Het
Nsun7	T	C	5: 66,436,000 (GRCm39)	S291P	probably damaging	Het
Or10n1	A	T	9: 39,525,790 (GRCm39)	Q309L	probably benign	Het
Or13a18	A	T	7: 140,190,373 (GRCm39)	N90I	possibly damaging	Het
Or1p1c	A	T	11: 74,160,550 (GRCm39)	I112F	probably damaging	Het
Or4e1	G	A	14: 52,700,945 (GRCm39)	P174S	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pals1	G	A	12: 78,844,006 (GRCm39)	R70H	probably damaging	Het
Pbrm1	A	G	14: 30,767,379 (GRCm39)	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,719,273 (GRCm39)	T539S	probably benign	Het
Plch2	T	G	4: 155,068,685 (GRCm39)	T1314P	probably benign	Het
Polk	T	C	13: 96,644,728 (GRCm39)	S133G	probably benign	Het
Pramel27	A	G	4: 143,578,399 (GRCm39)	I220V	probably damaging	Het
Prdm5	A	T	6: 65,904,967 (GRCm39)	K533*	probably null	Het
Prmt1	T	A	7: 44,632,997 (GRCm39)	Q35H	probably benign	Het
Pum3	A	T	19: 27,401,625 (GRCm39)	W142R	probably damaging	Het
Rest	G	A	5: 77,430,455 (GRCm39)	R958H	probably benign	Het
Rictor	C	T	15: 6,798,782 (GRCm39)	T343M	probably damaging	Het
Ripor2	G	A	13: 24,855,886 (GRCm39)	G109R	probably damaging	Het
Sec62	C	T	3: 30,872,978 (GRCm39)	Q354*	probably null	Het
Snx14	T	C	9: 88,263,844 (GRCm39)	Y847C	probably damaging	Het
Sox7	A	T	14: 64,185,438 (GRCm39)	D158V	probably benign	Het
Syngr1	A	T	15: 79,995,934 (GRCm39)	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,511,979 (GRCm39)	V238L	probably benign	Het
Tex15	T	C	8: 34,063,014 (GRCm39)	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,612,793 (GRCm39)	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,718 (GRCm39)	I836T	probably benign	Het
Trim30b	C	A	7: 104,006,569 (GRCm39)	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,383,106 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,031,822 (GRCm39)	H418N	probably benign	Het
Uap1	G	T	1: 169,986,472 (GRCm39)	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,691,606 (GRCm39)	V141A	not run	Het
Vmn1r54	T	A	6: 90,246,647 (GRCm39)	I187K	probably damaging	Het
Vmp1	C	T	11: 86,492,859 (GRCm39)	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,500,511 (GRCm39)	K366R	probably benign	Het
Zfp207	C	T	11: 80,286,004 (GRCm39)	P415L	unknown	Het
Zfp263	A	G	16: 3,562,435 (GRCm39)	E66G	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp985	T	A	4: 147,667,913 (GRCm39)	H260Q	probably damaging	Het
Zmiz1	GCC	GC	14: 25,576,624 (GRCm39)		probably null	Het
Zmiz1	A	G	14: 25,576,633 (GRCm39)	R47G	probably damaging	Het
Zmiz1	A	C	14: 25,576,631 (GRCm39)	Q46P	probably damaging	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
R1519:Spag8	UTSW	4	43,652,777 (GRCm39)	missense	possibly damaging	0.88
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
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'- GGAAGAGGTACTGAACTCCTGG -3'
(R):5'- GCTCAACTCATTTCTGACGC -3'

Sequencing Primer
(F):5'- GGCACTCTCTAAACTTCCAGGATTG -3'
(R):5'- ATTTCTGACGCTAGTTCCTGAC -3'

Posted On

2019-06-26