Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Spag1'

377430

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

042498-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36178245-36235767 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 36197992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132233 (fasta)

Gene Model

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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227524

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Acss1	C	A	2: 150,471,786 (GRCm39)	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,867,586 (GRCm39)	S100P	probably damaging	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cstf1	C	T	2: 172,222,444 (GRCm39)	R401C	probably damaging	Het
Cul3	A	G	1: 80,266,567 (GRCm39)	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,429 (GRCm39)	T1114A	probably benign	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Pusl1	G	A	4: 155,973,998 (GRCm39)	T252I	probably benign	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	possibly 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
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
R9711:Spag1	UTSW	15	36,190,683 (GRCm39)	critical splice donor site	probably null
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'- ACTGTGTTGACGCTCTCATG -3'
(R):5'- AAAAGCGATGGACTCACCTC -3'

Sequencing Primer
(F):5'- GAGACGAGCCACTACATAT -3'
(R):5'- AAGACTGAAGCCCCGTTTTG -3'

Posted On

2016-03-17