Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Spag1'

230029

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

040091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36178245-36235767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36227287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 648 (L648P)

Ref Sequence

ENSEMBL: ENSMUSP00000132233 (fasta)

Gene Model

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

AlphaFold

Q80ZX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047348
AA Change: L648P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
AA Change: L648P

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 damaging
Transcript: ENSMUST00000171205
AA Change: L648P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
AA Change: L648P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227849

Meta Mutation Damage Score

0.8382

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,767 (GRCm39)	M53T	unknown	Het
Abcb11	T	A	2: 69,089,820 (GRCm39)		probably benign	Het
Acap2	C	G	16: 30,929,763 (GRCm39)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,146,249 (GRCm39)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,954,536 (GRCm39)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,241,944 (GRCm39)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,171,116 (GRCm39)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,734,834 (GRCm39)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,468,304 (GRCm39)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,623,810 (GRCm39)	V37D	probably damaging	Het
Cacna1d	T	C	14: 29,769,314 (GRCm39)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,148,570 (GRCm39)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,349 (GRCm39)	E256G	probably damaging	Het
Cd5	A	G	19: 10,700,620 (GRCm39)	S295P	probably benign	Het
Cenpb	T	C	2: 131,020,517 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 64,942,076 (GRCm39)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,644,786 (GRCm39)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm39)		probably benign	Het
Csnk2a1	A	G	2: 152,096,201 (GRCm39)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,011,733 (GRCm39)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,981,116 (GRCm39)	Q98L	probably null	Het
Dnah11	G	T	12: 118,077,606 (GRCm39)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Eid2b	C	T	7: 27,977,198 (GRCm39)		probably benign	Het
Exoc1	A	T	5: 76,680,693 (GRCm39)	K28*	probably null	Het
Fam114a1	A	G	5: 65,137,402 (GRCm39)	D115G	probably benign	Het
Fam151a	A	T	4: 106,592,760 (GRCm39)		probably null	Het
Gc	T	C	5: 89,586,201 (GRCm39)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 86,926,094 (GRCm39)	Y284H	probably benign	Het
Gm21957	T	A	7: 124,818,878 (GRCm39)		noncoding transcript	Het
Golm1	G	A	13: 59,792,999 (GRCm39)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm39)	V813A	probably damaging	Het
Itih1	C	T	14: 30,659,800 (GRCm39)	A279T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	T	C	17: 68,124,618 (GRCm39)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,657,887 (GRCm39)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,472,642 (GRCm39)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,228,729 (GRCm39)	K316R	probably benign	Het
Mapre3	A	C	5: 31,020,546 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,737,962 (GRCm39)		probably null	Het
Mical2	A	C	7: 111,917,810 (GRCm39)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,711,248 (GRCm39)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nodal	A	T	10: 61,259,077 (GRCm39)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,009,683 (GRCm39)	S537P	probably damaging	Het
Obox6	A	G	7: 15,567,532 (GRCm39)	L305S	probably damaging	Het
Obscn	T	C	11: 58,969,082 (GRCm39)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,494,090 (GRCm39)	S229R	probably benign	Het
Pcca	T	C	14: 122,923,527 (GRCm39)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,334,906 (GRCm39)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,516,044 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,101,619 (GRCm39)	N72S	probably benign	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Pygm	G	A	19: 6,441,511 (GRCm39)		probably null	Het
Rab7	C	T	6: 87,989,300 (GRCm39)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,009,431 (GRCm39)		probably null	Het
Rergl	T	C	6: 139,471,832 (GRCm39)	T106A	probably benign	Het
Rnf17	T	G	14: 56,720,837 (GRCm39)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,633,126 (GRCm39)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,600,280 (GRCm39)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,585,874 (GRCm39)	T140A	possibly damaging	Het
Sbno2	T	A	10: 79,893,690 (GRCm39)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,641,521 (GRCm39)	I68N	probably damaging	Het
Slc35a5	A	G	16: 44,964,628 (GRCm39)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,651,772 (GRCm39)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,593,487 (GRCm39)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Tagap1	T	C	17: 7,224,102 (GRCm39)	D198G	probably benign	Het
Tedc2	T	C	17: 24,436,874 (GRCm39)	E287G	probably damaging	Het
Tjp1	C	A	7: 64,962,669 (GRCm39)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ttc38	T	A	15: 85,722,928 (GRCm39)	D125E	probably benign	Het
Uggt1	C	T	1: 36,231,495 (GRCm39)	R490Q	probably null	Het
Uroc1	T	G	6: 90,321,096 (GRCm39)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,997,455 (GRCm39)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,896,949 (GRCm39)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,857,571 (GRCm39)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm39)	L932P	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
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'- TGTGTAGACATGTGCACATAGG -3'
(R):5'- AACCACTTGTTGCATTTGGAG -3'

Sequencing Primer
(F):5'- AGGTGTCAGATCCCCTACAG -3'
(R):5'- TGGCTGGCTTTCACATTC -3'

Posted On

2014-09-18