Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Spag6l'

471312

Institutional Source

Beutler Lab

Gene Symbol

Spag6l

Ensembl Gene

ENSMUSG00000022783

Gene Name

sperm associated antigen 6-like

Synonyms

PF16, Spag6

MMRRC Submission

044145-MU

Accession Numbers

Essential gene?

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

Stock #

R5958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16570880-16647227 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 16580885 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 null
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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Cpb2	T	C	14: 75,520,827 (GRCm39)	I414T	probably damaging	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Epyc	A	T	10: 97,485,704 (GRCm39)	H48L	probably benign	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Meioc	A	T	11: 102,565,979 (GRCm39)	T476S	probably benign	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Or5b24	T	C	19: 12,912,411 (GRCm39)	F103S	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,102,092 (GRCm39)	M722V	possibly damaging	Het
Rad18	T	C	6: 112,673,603 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	probably benign	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
R1496:Spag6l	UTSW	16	16,598,478 (GRCm39)	splice site	probably benign
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
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'- CCTCATGTAGAATTTCAAAGTCCAC -3'
(R):5'- TCGGTAGTAAAACTCTAACTTGGG -3'

Sequencing Primer
(F):5'- GCTGCCTTCAGATCAAGATGTAG -3'
(R):5'- GAAAGAAGAAATGTTGTTTTGTGTGC -3'

Posted On

2017-03-31