Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Spag6l'

168904

Institutional Source

Beutler Lab

Gene Symbol

Spag6l

Ensembl Gene

ENSMUSG00000022783

Gene Name

sperm associated antigen 6-like

Synonyms

PF16, Spag6

MMRRC Submission

039547-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16570880-16647227 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 16598478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023468]

AlphaFold

Q9JLI7

Predicted Effect

probably benign
Transcript: ENSMUST00000023468

SMART Domains

Protein: ENSMUSP00000023468
Gene: ENSMUSG00000022783

Domain	Start	End	E-Value	Type
ARM	30	70	2.26e-3	SMART
Blast:ARM	72	112	3e-15	BLAST
ARM	114	154	3e-8	SMART
ARM	156	196	4.91e-4	SMART
ARM	198	238	1.03e-6	SMART
ARM	240	280	3.13e0	SMART
ARM	282	322	4.82e1	SMART
ARM	323	365	7.34e-3	SMART
Blast:ARM	367	409	7e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154624

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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 antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Many homozygotes for a targeted null mutation exhibit reduced growth, hydrocephaly, and lethality by 8 weeks of age. Surviving males have sperm defects and are infertile, while females show reduced fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,221,552 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,041,489 (GRCm39)	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,266,298 (GRCm39)	L832Q	probably damaging	Het
Acan	T	A	7: 78,750,552 (GRCm39)	H1774Q	probably benign	Het
Adss2	T	C	1: 177,599,760 (GRCm39)	T275A	probably benign	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Araf	G	T	X: 20,725,943 (GRCm39)	R522L	probably damaging	Het
Arhgef28	C	T	13: 98,102,054 (GRCm39)	V807I	possibly damaging	Het
Bin1	T	C	18: 32,545,757 (GRCm39)	I103T	probably damaging	Het
C4b	C	T	17: 34,958,995 (GRCm39)	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,568,047 (GRCm39)	P1015S	probably benign	Het
Capn1	A	G	19: 6,057,528 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,374,828 (GRCm39)	Q1358R	probably damaging	Het
Cfap126	T	C	1: 170,953,386 (GRCm39)		probably benign	Het
Chn1	T	C	2: 73,509,951 (GRCm39)		probably benign	Het
Cldn8	T	C	16: 88,359,289 (GRCm39)	E212G	probably benign	Het
Cpb1	T	C	3: 20,317,696 (GRCm39)	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,639,412 (GRCm39)	I138F	probably benign	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,021,422 (GRCm39)	M538T	probably benign	Het
Dhrs4	T	G	14: 55,725,107 (GRCm39)	L201V	probably damaging	Het
Dnah12	C	T	14: 26,431,403 (GRCm39)	A407V	probably benign	Het
Elavl3	T	A	9: 21,937,461 (GRCm39)		probably benign	Het
Elp4	T	C	2: 105,662,506 (GRCm39)	H88R	probably benign	Het
Ercc3	T	C	18: 32,394,350 (GRCm39)		probably benign	Het
Eri1	A	G	8: 35,936,335 (GRCm39)	S329P	possibly damaging	Het
Erich2	A	T	2: 70,343,117 (GRCm39)		probably benign	Het
Esyt1	A	G	10: 128,348,297 (GRCm39)	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,557,588 (GRCm39)	E141G	probably damaging	Het
Fat1	A	G	8: 45,486,427 (GRCm39)	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,151,415 (GRCm39)	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,887,094 (GRCm39)	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,495,372 (GRCm39)	D194G	probably damaging	Het
Gpr89	A	G	3: 96,812,526 (GRCm39)	I5T	probably benign	Het
Gpx6	A	T	13: 21,503,090 (GRCm39)	H168L	probably benign	Het
Gusb	T	C	5: 130,027,385 (GRCm39)	T307A	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,477,193 (GRCm39)	D118G	probably benign	Het
Ipcef1	A	T	10: 6,885,173 (GRCm39)		probably null	Het
Kbtbd3	A	T	9: 4,330,276 (GRCm39)	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,374,880 (GRCm39)	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,213,674 (GRCm39)	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Map1lc3b	C	T	8: 122,323,339 (GRCm39)	R70C	possibly damaging	Het
Meiob	T	A	17: 25,032,026 (GRCm39)	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330 (GRCm39)	Y183*	probably null	Het
Mrs2	T	C	13: 25,189,017 (GRCm39)	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,396,387 (GRCm39)	K151R	probably benign	Het
Neb	T	G	2: 52,218,746 (GRCm39)	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,797,944 (GRCm39)	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,893,417 (GRCm39)	T122I	probably damaging	Het
Nuggc	A	T	14: 65,861,582 (GRCm39)	N476I	probably damaging	Het
Obscn	T	A	11: 58,921,862 (GRCm39)	H5978L	probably benign	Het
Oc90	G	T	15: 65,748,370 (GRCm39)	A412D	probably damaging	Het
Or2l13b	T	A	16: 19,349,133 (GRCm39)	D179V	possibly damaging	Het
Or3a4	A	G	11: 73,944,650 (GRCm39)	*312Q	probably null	Het
Or4a76	A	G	2: 89,460,358 (GRCm39)	S295P	possibly damaging	Het
Or5w18	T	G	2: 87,633,212 (GRCm39)	S160A	probably benign	Het
Or7a42	T	A	10: 78,791,682 (GRCm39)	S214R	probably benign	Het
Or8k33	A	T	2: 86,384,096 (GRCm39)	V124E	probably damaging	Het
Pdzrn3	A	T	6: 101,127,930 (GRCm39)	V912E	probably benign	Het
Phactr1	T	A	13: 43,248,466 (GRCm39)	Y387N	probably damaging	Het
Picalm	T	A	7: 89,779,859 (GRCm39)	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,891,077 (GRCm39)	I314F	possibly damaging	Het
Pold2	T	C	11: 5,824,175 (GRCm39)	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,523 (GRCm39)		probably benign	Het
Rac1	G	T	5: 143,493,093 (GRCm39)	A165E	probably damaging	Het
Rpap3	G	T	15: 97,584,364 (GRCm39)	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,357,232 (GRCm39)	T1012I	probably benign	Het
Sdad1	A	G	5: 92,457,682 (GRCm39)	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,903,127 (GRCm39)	K180T	probably damaging	Het
Sgpl1	T	C	10: 60,938,368 (GRCm39)	N475S	probably damaging	Het
Shroom3	T	C	5: 93,090,693 (GRCm39)	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,026,442 (GRCm39)	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489 (GRCm39)	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,251,997 (GRCm39)	I36V	probably benign	Het
Smarca2	C	G	19: 26,608,501 (GRCm39)	P263A	possibly damaging	Het
Sp100	T	C	1: 85,591,242 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,071,498 (GRCm39)	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,245,115 (GRCm39)	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,845,719 (GRCm39)	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,668,313 (GRCm39)		probably null	Het
Tnfrsf9	T	A	4: 151,017,561 (GRCm39)		probably null	Het
Tnni3k	T	C	3: 154,645,295 (GRCm39)	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,989,934 (GRCm39)	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,780,714 (GRCm39)	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,782,071 (GRCm39)	H541P	probably damaging	Het
Zfp84	A	G	7: 29,476,039 (GRCm39)	I244V	possibly damaging	Het
Zyx	A	G	6: 42,333,246 (GRCm39)	Y393C	probably damaging	Het

Other mutations in Spag6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Spag6l	APN	16	16,598,597 (GRCm39)	missense	probably benign	0.20
IGL00928:Spag6l	APN	16	16,584,877 (GRCm39)	missense	possibly damaging	0.52
IGL00929:Spag6l	APN	16	16,584,877 (GRCm39)	missense	possibly damaging	0.52
IGL01793:Spag6l	APN	16	16,599,721 (GRCm39)	missense	probably damaging	1.00
IGL02380:Spag6l	APN	16	16,581,033 (GRCm39)	critical splice acceptor site	probably null
IGL03271:Spag6l	APN	16	16,598,592 (GRCm39)	missense	probably damaging	1.00
R0284:Spag6l	UTSW	16	16,598,630 (GRCm39)	missense	probably damaging	0.99
R0394:Spag6l	UTSW	16	16,598,493 (GRCm39)	missense	probably benign
R0720:Spag6l	UTSW	16	16,584,960 (GRCm39)	splice site	probably benign
R1205:Spag6l	UTSW	16	16,605,171 (GRCm39)	missense	probably damaging	1.00
R1707:Spag6l	UTSW	16	16,598,492 (GRCm39)	missense	probably benign	0.00
R1926:Spag6l	UTSW	16	16,580,921 (GRCm39)	missense	probably benign	0.00
R2255:Spag6l	UTSW	16	16,595,203 (GRCm39)	missense	probably damaging	0.96
R2330:Spag6l	UTSW	16	16,646,949 (GRCm39)	missense	probably benign
R3755:Spag6l	UTSW	16	16,580,884 (GRCm39)	critical splice donor site	probably null
R3796:Spag6l	UTSW	16	16,580,916 (GRCm39)	missense	probably damaging	1.00
R4093:Spag6l	UTSW	16	16,646,888 (GRCm39)	missense	probably benign	0.05
R4324:Spag6l	UTSW	16	16,605,099 (GRCm39)	missense	probably benign	0.00
R4725:Spag6l	UTSW	16	16,610,395 (GRCm39)	missense	probably damaging	1.00
R4766:Spag6l	UTSW	16	16,595,254 (GRCm39)	missense	probably benign	0.03
R4877:Spag6l	UTSW	16	16,599,622 (GRCm39)	missense	possibly damaging	0.47
R5753:Spag6l	UTSW	16	16,584,831 (GRCm39)	critical splice donor site	probably null
R5958:Spag6l	UTSW	16	16,580,885 (GRCm39)	critical splice donor site	probably null
R6107:Spag6l	UTSW	16	16,599,652 (GRCm39)	missense	possibly damaging	0.56
R6894:Spag6l	UTSW	16	16,601,802 (GRCm39)	missense	probably damaging	1.00
R7329:Spag6l	UTSW	16	16,584,883 (GRCm39)	missense	probably benign
R7634:Spag6l	UTSW	16	16,595,278 (GRCm39)	missense	probably damaging	0.97
R8240:Spag6l	UTSW	16	16,580,889 (GRCm39)	missense	probably damaging	1.00
R8464:Spag6l	UTSW	16	16,580,898 (GRCm39)	missense	probably damaging	0.97
R9207:Spag6l	UTSW	16	16,598,492 (GRCm39)	missense	probably benign	0.00
R9682:Spag6l	UTSW	16	16,646,981 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTACCCAAGGAAGGAAGCCATTTG -3'
(R):5'- AGCTGATTGTTAATGCAGGAGGCG -3'

Sequencing Primer
(F):5'- gacgcaactgacttggaac -3'
(R):5'- TTGCATTGGGTCCTGCAA -3'

Posted On

2014-04-13