Mutagenetix > Incidental Mutation

Incidental Mutation 'R9711:Spag1'

730198

Institutional Source

Beutler Lab

Gene Symbol

Spag1

Ensembl Gene

ENSMUSG00000037617

Gene Name

sperm associated antigen 1

Synonyms

TPR-containing protein involved in spermatogenesis, tpis

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R9711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36178245-36235767 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 36190683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000171205]

AlphaFold

Q80ZX8

Predicted Effect

probably null
Transcript: ENSMUST00000047348

SMART Domains

Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617

Domain	Start	End	E-Value	Type
TPR	213	246	1.88e0	SMART
TPR	247	279	3.47e-4	SMART
TPR	280	313	8.23e-6	SMART
low complexity region	383	400	N/A	INTRINSIC
TPR	430	463	5.92e1	SMART
TPR	472	505	2.49e-5	SMART
TPR	506	539	5.31e0	SMART
TPR	606	639	7.63e-1	SMART
TPR	640	673	1.38e-7	SMART
Pfam:RPAP3_C	777	869	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171205

SMART Domains

Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617

Domain	Start	End	E-Value	Type
TPR	213	246	1.88e0	SMART
TPR	247	279	3.47e-4	SMART
TPR	280	313	8.23e-6	SMART
low complexity region	383	400	N/A	INTRINSIC
TPR	430	463	5.92e1	SMART
TPR	472	505	2.49e-5	SMART
TPR	506	539	5.31e0	SMART
TPR	606	639	7.63e-1	SMART
TPR	640	673	1.38e-7	SMART
Pfam:RPAP3_C	777	869	1.7e-18	PFAM

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 expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,275,388 (GRCm39)	D430G	probably damaging	Het
Adgrf1	T	C	17: 43,621,580 (GRCm39)	S606P	possibly damaging	Het
Afap1	A	G	5: 36,141,540 (GRCm39)	N475D	probably damaging	Het
Ahnak2	A	G	12: 112,739,468 (GRCm39)	S1535P	possibly damaging	Het
Akt1	G	T	12: 112,624,885 (GRCm39)	H194N	possibly damaging	Het
Api5	T	A	2: 94,251,812 (GRCm39)	Q396L	possibly damaging	Het
Aplp2	T	C	9: 31,083,303 (GRCm39)	N148S	probably benign	Het
Asb3	A	G	11: 31,031,400 (GRCm39)	Y340C	probably damaging	Het
Bbox1	A	T	2: 110,098,581 (GRCm39)	M332K	probably damaging	Het
Cabin1	A	T	10: 75,579,090 (GRCm39)	S449T	probably benign	Het
Carns1	A	G	19: 4,216,007 (GRCm39)	V725A	possibly damaging	Het
Cdkn1b	A	G	6: 134,898,058 (GRCm39)	K59R	possibly damaging	Het
Cdv3	A	T	9: 103,233,539 (GRCm39)	I212K	probably damaging	Het
Clec14a	T	A	12: 58,314,432 (GRCm39)	I397F	probably damaging	Het
Cnnm1	A	G	19: 43,483,469 (GRCm39)	I950V	possibly damaging	Het
Ddi2	A	G	4: 141,422,734 (GRCm39)	M326T	probably benign	Het
Dhx30	T	C	9: 109,914,103 (GRCm39)	T1065A	probably benign	Het
Eif3c	A	T	7: 126,146,674 (GRCm39)	M808K	possibly damaging	Het
Evi2	G	T	11: 79,406,971 (GRCm39)	H201Q	possibly damaging	Het
Exoc4	A	G	6: 33,452,991 (GRCm39)	T494A	unknown	Het
Fam83f	T	A	15: 80,574,819 (GRCm39)	M242K	probably damaging	Het
Fat4	T	C	3: 39,055,374 (GRCm39)	Y4198H	probably benign	Het
Fcgbp	C	A	7: 27,793,000 (GRCm39)	N1001K	probably benign	Het
Gda	G	T	19: 21,400,449 (GRCm39)	A164E	probably damaging	Het
Gm19410	T	C	8: 36,279,493 (GRCm39)	V1786A	possibly damaging	Het
Gm45871	A	G	18: 90,609,069 (GRCm39)	N82S	probably benign	Het
Gnas	T	A	2: 174,141,392 (GRCm39)	S580T	unknown	Het
Gprin1	G	A	13: 54,886,714 (GRCm39)	P520L	probably benign	Het
Gramd4	C	T	15: 86,014,751 (GRCm39)	R433C	probably damaging	Het
Ighv5-12	T	A	12: 113,665,958 (GRCm39)	T47S	probably benign	Het
Itprid1	T	G	6: 55,864,018 (GRCm39)	S115A	probably damaging	Het
Kdm5a	T	A	6: 120,367,658 (GRCm39)	L451Q	probably damaging	Het
Kif12	T	A	4: 63,084,126 (GRCm39)	R624S	probably benign	Het
Lepr	T	A	4: 101,592,851 (GRCm39)	Y155*	probably null	Het
Lnx2	T	A	5: 146,961,376 (GRCm39)	I519F	probably damaging	Het
Marchf7	T	A	2: 60,060,175 (GRCm39)	S101T	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Morc2a	T	A	11: 3,600,381 (GRCm39)	M1K	probably null	Het
Mtus1	T	C	8: 41,536,222 (GRCm39)	N498S	probably damaging	Het
Mxd1	T	A	6: 86,645,554 (GRCm39)	R46W	probably damaging	Het
Ndufa11	G	C	17: 57,024,843 (GRCm39)	A2P	possibly damaging	Het
Necab2	C	T	8: 120,198,513 (GRCm39)	H362Y	probably damaging	Het
Nphp4	G	A	4: 152,623,434 (GRCm39)	V703I	possibly damaging	Het
Nup54	T	C	5: 92,582,218 (GRCm39)	N31S	unknown	Het
Or13a23-ps1	T	A	7: 140,118,497 (GRCm39)	S22R	probably benign	Het
Or1ad6	T	C	11: 50,860,316 (GRCm39)	L157P	probably damaging	Het
Or1e34	A	T	11: 73,778,696 (GRCm39)	C167*	probably null	Het
Or8b4	A	C	9: 37,830,066 (GRCm39)	T38P	probably damaging	Het
P2rx2	T	C	5: 110,490,388 (GRCm39)	E109G	possibly damaging	Het
Pcdha7	T	C	18: 37,107,409 (GRCm39)	S145P	probably damaging	Het
Pdlim5	A	T	3: 141,948,529 (GRCm39)	V586E	probably damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Plch1	T	A	3: 63,615,176 (GRCm39)	D774V	probably damaging	Het
Plekhg3	A	T	12: 76,611,726 (GRCm39)	D335V	possibly damaging	Het
Pop1	A	G	15: 34,530,227 (GRCm39)	H905R	probably benign	Het
Ppm1k	T	C	6: 57,492,720 (GRCm39)	T189A	probably damaging	Het
Pramel13	A	G	4: 144,122,517 (GRCm39)	L9P	probably damaging	Het
Recql5	A	G	11: 115,784,367 (GRCm39)	V911A	probably damaging	Het
Rnf145	T	A	11: 44,415,830 (GRCm39)	L15*	probably null	Het
Rpl13a	A	G	7: 44,776,673 (GRCm39)	V29A	probably benign	Het
Rps6ka5	A	G	12: 100,540,250 (GRCm39)	V491A	probably benign	Het
Setbp1	T	C	18: 78,900,142 (GRCm39)	H1175R	probably benign	Het
Setd5	T	C	6: 113,093,063 (GRCm39)	S372P	probably damaging	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc36a2	T	C	11: 55,070,169 (GRCm39)	N136S	probably benign	Het
Spon1	A	C	7: 113,387,685 (GRCm39)	T81P	probably damaging	Het
Sv2b	A	T	7: 74,856,238 (GRCm39)	D17E	probably benign	Het
Tasor2	A	G	13: 3,649,667 (GRCm39)	V44A	probably benign	Het
Tax1bp1	C	T	6: 52,704,215 (GRCm39)	T65I	probably damaging	Het
Tenm2	C	A	11: 35,915,341 (GRCm39)	K2065N	probably damaging	Het
Ticam2	T	C	18: 46,693,658 (GRCm39)	D143G	probably damaging	Het
Tmem132d	T	C	5: 127,869,579 (GRCm39)	E585G	possibly damaging	Het
Tnfrsf8	C	T	4: 145,019,668 (GRCm39)		probably null	Het
Trim44	C	T	2: 102,230,813 (GRCm39)	G73R	unknown	Het
Trpc3	C	T	3: 36,692,713 (GRCm39)	D760N	possibly damaging	Het
Tspan9	T	A	6: 127,942,715 (GRCm39)	M171L	probably benign	Het
Ugt2b37	A	G	5: 87,402,532 (GRCm39)	F33S	possibly damaging	Het
Vav2	A	T	2: 27,159,027 (GRCm39)	V734E	probably damaging	Het
Vmn1r214	A	G	13: 23,218,508 (GRCm39)	M1V	probably null	Het
Vmn1r24	A	T	6: 57,932,804 (GRCm39)	V238E	probably damaging	Het
Vmn2r107	A	G	17: 20,577,262 (GRCm39)	Q420R	probably damaging	Het
Vmn2r31	G	A	7: 7,387,085 (GRCm39)	P829S	probably damaging	Het
Xpo6	A	G	7: 125,712,873 (GRCm39)	F703L	probably benign	Het
Zfp442	T	A	2: 150,250,207 (GRCm39)	H565L	possibly damaging	Het
Zfp950	A	T	19: 61,116,000 (GRCm39)	D2E	probably damaging	Het
Zfp992	T	A	4: 146,551,345 (GRCm39)	S355R	probably damaging	Het
Zwilch	A	T	9: 64,063,303 (GRCm39)	F309Y	probably damaging	Het

Other mutations in Spag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Spag1	APN	15	36,195,562 (GRCm39)	nonsense	probably null
IGL00465:Spag1	APN	15	36,183,967 (GRCm39)	unclassified	probably benign
IGL00694:Spag1	APN	15	36,227,317 (GRCm39)	missense	possibly damaging	0.94
IGL01479:Spag1	APN	15	36,233,345 (GRCm39)	splice site	probably benign
IGL01830:Spag1	APN	15	36,221,705 (GRCm39)	missense	probably benign	0.01
IGL02072:Spag1	APN	15	36,190,658 (GRCm39)	missense	probably damaging	1.00
IGL02232:Spag1	APN	15	36,221,710 (GRCm39)	missense	probably benign	0.00
IGL02727:Spag1	APN	15	36,234,964 (GRCm39)	missense	probably damaging	1.00
IGL02810:Spag1	APN	15	36,234,693 (GRCm39)	missense	probably damaging	1.00
IGL03010:Spag1	APN	15	36,233,419 (GRCm39)	missense	probably benign	0.15
IGL03069:Spag1	APN	15	36,224,245 (GRCm39)	splice site	probably benign
IGL03244:Spag1	APN	15	36,234,529 (GRCm39)	missense	probably benign	0.00
FR4737:Spag1	UTSW	15	36,197,879 (GRCm39)	critical splice acceptor site	probably benign
R0863:Spag1	UTSW	15	36,192,193 (GRCm39)	missense	probably damaging	1.00
R1177:Spag1	UTSW	15	36,234,913 (GRCm39)	missense	probably benign	0.21
R1878:Spag1	UTSW	15	36,181,916 (GRCm39)	missense	probably damaging	1.00
R1879:Spag1	UTSW	15	36,181,916 (GRCm39)	missense	probably damaging	1.00
R2086:Spag1	UTSW	15	36,227,287 (GRCm39)	missense	probably damaging	0.98
R2093:Spag1	UTSW	15	36,224,276 (GRCm39)	missense	probably damaging	1.00
R2231:Spag1	UTSW	15	36,191,313 (GRCm39)	missense	probably benign	0.01
R4030:Spag1	UTSW	15	36,234,447 (GRCm39)	missense	probably damaging	0.99
R4893:Spag1	UTSW	15	36,197,992 (GRCm39)	critical splice donor site	probably null
R5047:Spag1	UTSW	15	36,195,588 (GRCm39)	missense	probably damaging	1.00
R5505:Spag1	UTSW	15	36,234,772 (GRCm39)	missense	probably damaging	0.99
R5741:Spag1	UTSW	15	36,183,849 (GRCm39)	missense	possibly damaging	0.79
R5805:Spag1	UTSW	15	36,200,430 (GRCm39)	missense	probably damaging	1.00
R6221:Spag1	UTSW	15	36,197,949 (GRCm39)	missense	probably benign	0.30
R6236:Spag1	UTSW	15	36,211,281 (GRCm39)	missense	probably damaging	1.00
R6556:Spag1	UTSW	15	36,195,553 (GRCm39)	missense	probably damaging	1.00
R6800:Spag1	UTSW	15	36,197,895 (GRCm39)	nonsense	probably null
R7737:Spag1	UTSW	15	36,210,856 (GRCm39)	missense	probably benign	0.01
R8397:Spag1	UTSW	15	36,197,895 (GRCm39)	nonsense	probably null
R9164:Spag1	UTSW	15	36,216,399 (GRCm39)	missense	probably damaging	1.00
R9486:Spag1	UTSW	15	36,181,954 (GRCm39)	missense	probably damaging	1.00
R9773:Spag1	UTSW	15	36,234,711 (GRCm39)	missense	probably benign	0.33
Z1177:Spag1	UTSW	15	36,186,822 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACACTGGAGTTCTTTTAACCCC -3'
(R):5'- CCTGGGACAAACTCTAAGCC -3'

Sequencing Primer
(F):5'- GGAGTTCTTTTAACCCCACAGG -3'
(R):5'- CAAATATCGCCTGGTCTATAGAGCG -3'

Posted On

2022-10-06