Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Spag1'

211339

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

039899-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R1878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36178245-36235767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36181916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 25 (E25K)

Ref Sequence

ENSEMBL: ENSMUSP00000132233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000057177] [ENSMUST00000171205] [ENSMUST00000180159] [ENSMUST00000227623]

AlphaFold

Q80ZX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047348
AA Change: E25K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
AA Change: E25K

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: ENSMUST00000057177

SMART Domains

Protein: ENSMUSP00000051968
Gene: ENSMUSG00000045996

Domain	Start	End	E-Value	Type
RPOLCX	56	99	6.19e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171205
AA Change: E25K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
AA Change: E25K

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: ENSMUST00000180159

SMART Domains

Protein: ENSMUSP00000136975
Gene: ENSMUSG00000045996

Domain	Start	End	E-Value	Type
RPOLCX	15	58	6.19e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227623
AA Change: E25K

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,825,564 (GRCm39)		probably null	Het
Abcb9	A	G	5: 124,228,199 (GRCm39)	V14A	probably benign	Het
Adcy4	T	C	14: 56,007,362 (GRCm39)	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,603,074 (GRCm39)	D828G	possibly damaging	Het
Ak2	T	A	4: 128,895,960 (GRCm39)	V79D	probably damaging	Het
Arhgap29	T	C	3: 121,805,020 (GRCm39)	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,134,363 (GRCm39)	K1222E	probably damaging	Het
Armc1	A	T	3: 19,211,708 (GRCm39)	D37E	probably damaging	Het
Cenpm	A	T	15: 82,118,616 (GRCm39)	M166K	probably benign	Het
Cep97	G	T	16: 55,725,589 (GRCm39)	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,356,476 (GRCm39)	D672E	probably benign	Het
Col6a2	T	C	10: 76,450,622 (GRCm39)	D103G	probably benign	Het
Ddi2	T	C	4: 141,411,460 (GRCm39)	E484G	probably benign	Het
Dph1	T	C	11: 75,075,053 (GRCm39)	D100G	probably damaging	Het
Dsp	A	T	13: 38,348,831 (GRCm39)	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,034,042 (GRCm39)		probably null	Het
Folh1	A	T	7: 86,420,950 (GRCm39)	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,615,212 (GRCm39)	D428E	probably benign	Het
Gfus	A	G	15: 75,797,218 (GRCm39)	S306P	probably benign	Het
Gm11564	A	T	11: 99,706,266 (GRCm39)	C55S	unknown	Het
Gne	T	C	4: 44,040,434 (GRCm39)	I577V	probably damaging	Het
Gpr4	A	G	7: 18,957,049 (GRCm39)	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,286,319 (GRCm39)	N542I	possibly damaging	Het
Ice2	T	C	9: 69,335,858 (GRCm39)		probably null	Het
Irgm1	C	T	11: 48,756,897 (GRCm39)	V305I	probably benign	Het
Itgal	C	A	7: 126,909,843 (GRCm39)	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857 (GRCm39)	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,140,878 (GRCm39)	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,522,938 (GRCm39)		probably null	Het
Mcc	T	C	18: 44,601,467 (GRCm39)	R621G	possibly damaging	Het
Myd88	T	A	9: 119,167,686 (GRCm39)	Q140L	probably benign	Het
Mylk3	A	T	8: 86,082,028 (GRCm39)	N323K	possibly damaging	Het
Myrip	C	T	9: 120,253,721 (GRCm39)	R265W	probably damaging	Het
N4bp1	A	T	8: 87,588,169 (GRCm39)	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,400,027 (GRCm39)	S418A	probably damaging	Het
Nlrp9b	A	G	7: 19,762,489 (GRCm39)	T269A	probably benign	Het
Nmt1	A	G	11: 102,943,077 (GRCm39)	N144S	probably benign	Het
Npvf	G	A	6: 50,631,303 (GRCm39)	T24I	probably benign	Het
Obscn	T	G	11: 58,886,379 (GRCm39)	Y2347S	probably damaging	Het
Or10d5	T	A	9: 39,862,053 (GRCm39)	T5S	probably benign	Het
Or14j1	T	C	17: 38,146,253 (GRCm39)	V121A	probably benign	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or2aj5	G	T	16: 19,424,501 (GRCm39)	Q306K	probably benign	Het
Or2n1c	T	C	17: 38,519,265 (GRCm39)	I43T	probably benign	Het
Or4c105	A	G	2: 88,647,805 (GRCm39)	T97A	probably benign	Het
Or51v8	A	C	7: 103,319,389 (GRCm39)	M283R	probably damaging	Het
Or7a42	T	A	10: 78,791,639 (GRCm39)	M200K	possibly damaging	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,278,215 (GRCm39)	K398N	possibly damaging	Het
Pcnp	A	T	16: 55,838,850 (GRCm39)	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,503,639 (GRCm39)	I71V	probably benign	Het
Ppp4c	G	T	7: 126,386,779 (GRCm39)	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,179,911 (GRCm39)	M1L	probably damaging	Het
Recql5	A	T	11: 115,785,927 (GRCm39)	D615E	probably benign	Het
Robo3	T	C	9: 37,333,461 (GRCm39)	E728G	probably damaging	Het
Rps27l	T	A	9: 66,854,911 (GRCm39)		probably null	Het
Scube3	T	A	17: 28,371,387 (GRCm39)	V34E	probably benign	Het
Sez6l	A	G	5: 112,623,089 (GRCm39)	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,411,381 (GRCm39)	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,289,398 (GRCm39)	V36A	probably benign	Het
Snapc4	A	G	2: 26,266,165 (GRCm39)		probably null	Het
Sohlh2	C	A	3: 55,115,064 (GRCm39)	R350S	probably damaging	Het
Sspo	G	A	6: 48,436,300 (GRCm39)	A1217T	possibly damaging	Het
Stil	T	C	4: 114,898,423 (GRCm39)	S1018P	probably damaging	Het
Strn	T	C	17: 78,984,755 (GRCm39)	E117G	possibly damaging	Het
Syt17	A	T	7: 118,033,468 (GRCm39)	M180K	probably benign	Het
Trem1	T	C	17: 48,548,516 (GRCm39)	S18P	possibly damaging	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc80	A	C	1: 66,548,561 (GRCm39)	H611P	probably damaging	Het
Zfp1004	T	A	2: 150,034,989 (GRCm39)	C437S	probably damaging	Het
Zfp709	A	G	8: 72,643,891 (GRCm39)	E440G	probably damaging	Het
Zfp764	C	A	7: 127,004,214 (GRCm39)	A306S	probably benign	Het
Zfp949	T	A	9: 88,451,356 (GRCm39)	S309T	probably damaging	Het
Zswim4	T	C	8: 84,939,405 (GRCm39)	N826D	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
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
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'- CACTCAGGACTACCTAGATTGAGC -3'
(R):5'- TCAGGGACCTATGTACTGACTTC -3'

Sequencing Primer
(F):5'- catacatatatacatatacatgtgtg -3'
(R):5'- TTGTCTCCCTGAAGGCAA -3'

Posted On

2014-06-30