Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Spag6l'

190182

Institutional Source

Beutler Lab

Gene Symbol

Spag6l

Ensembl Gene

ENSMUSG00000022783

Gene Name

sperm associated antigen 6-like

Synonyms

PF16, Spag6

MMRRC Submission

039740-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16570880-16647227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16598492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 333 (I333N)

Ref Sequence

ENSEMBL: ENSMUSP00000023468 (fasta)

Gene Model

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

AlphaFold

Q9JLI7

Predicted Effect

probably benign
Transcript: ENSMUST00000023468
AA Change: I333N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023468
Gene: ENSMUSG00000022783
AA Change: I333N

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

0.0694

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 159,898,372 (GRCm39)		probably benign	Het
4931429P17Rik	A	G	13: 48,114,481 (GRCm39)		noncoding transcript	Het
Acox3	T	A	5: 35,758,908 (GRCm39)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,401,192 (GRCm39)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,062,215 (GRCm39)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 103,039,953 (GRCm39)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,164,758 (GRCm39)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,291,600 (GRCm39)	D62A	probably damaging	Het
Asb14	T	G	14: 26,623,079 (GRCm39)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,357,635 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 57,675,169 (GRCm39)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,147,098 (GRCm39)		probably benign	Het
Cc2d2a	T	A	5: 43,881,030 (GRCm39)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm39)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,303,168 (GRCm39)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,383 (GRCm39)	S717L	probably benign	Het
Cip2a	A	C	16: 48,838,767 (GRCm39)	Q861H	probably damaging	Het
Colgalt2	C	T	1: 152,276,114 (GRCm39)	R76W	probably damaging	Het
Copg1	A	T	6: 87,882,192 (GRCm39)	T596S	probably benign	Het
Cpb1	G	A	3: 20,329,655 (GRCm39)	R24W	probably damaging	Het
Csad	T	A	15: 102,088,407 (GRCm39)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,034,912 (GRCm39)		probably benign	Het
Ddb2	A	G	2: 91,064,554 (GRCm39)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,582,655 (GRCm39)	S317T	probably damaging	Het
Dlc1	A	G	8: 37,404,763 (GRCm39)	V342A	probably benign	Het
Dpp4	G	A	2: 62,189,679 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,206,727 (GRCm39)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,695,150 (GRCm39)	M989V	probably benign	Het
Entr1	T	A	2: 26,277,618 (GRCm39)	N69Y	probably damaging	Het
Gm5422	G	A	10: 31,124,458 (GRCm39)		noncoding transcript	Het
Gm9944	A	G	4: 144,179,833 (GRCm39)		probably benign	Het
Gtf2ird2	T	C	5: 134,245,829 (GRCm39)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,859,658 (GRCm39)	V217G	probably damaging	Het
Hunk	C	T	16: 90,183,295 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,285,799 (GRCm39)		probably null	Het
Ints11	T	G	4: 155,959,655 (GRCm39)	D87E	probably benign	Het
Intu	T	A	3: 40,595,073 (GRCm39)	S21T	probably benign	Het
Intu	C	A	3: 40,637,931 (GRCm39)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm39)	N45K	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,613,729 (GRCm39)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,802,141 (GRCm39)		probably null	Het
Magi2	T	G	5: 20,420,491 (GRCm39)	M309R	probably damaging	Het
Magohb	G	A	6: 131,261,600 (GRCm39)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,454,095 (GRCm39)	D203G	probably damaging	Het
Mvp	C	T	7: 126,600,744 (GRCm39)	V86I	probably benign	Het
Naip5	A	T	13: 100,379,363 (GRCm39)	F226I	probably damaging	Het
Nasp	T	A	4: 116,476,133 (GRCm39)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,426,430 (GRCm39)	F1594I	probably damaging	Het
Nod2	A	C	8: 89,397,104 (GRCm39)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,640,316 (GRCm39)	S214N	probably damaging	Het
Or2l13b	T	C	16: 19,348,927 (GRCm39)	T248A	probably benign	Het
Or8c9	T	A	9: 38,241,197 (GRCm39)	F105I	probably damaging	Het
Parp14	A	C	16: 35,678,219 (GRCm39)	L583R	probably damaging	Het
Pclo	T	C	5: 14,763,238 (GRCm39)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,621,064 (GRCm39)		probably benign	Het
Plaat1	A	G	16: 29,046,978 (GRCm39)	K166E	probably damaging	Het
Polr1e	A	C	4: 45,027,469 (GRCm39)	D233A	probably damaging	Het
Prr29	T	C	11: 106,267,509 (GRCm39)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,129,028 (GRCm39)	V197E	probably damaging	Het
Rgma	A	T	7: 73,067,707 (GRCm39)	T415S	unknown	Het
Sacs	G	T	14: 61,447,211 (GRCm39)	V3086L	probably benign	Het
Sash1	A	G	10: 8,606,141 (GRCm39)	S750P	probably benign	Het
Scpppq1	T	A	5: 104,222,099 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,512 (GRCm39)	S372T	probably benign	Het
Sis	A	G	3: 72,816,420 (GRCm39)		probably benign	Het
Skint8	T	A	4: 111,796,769 (GRCm39)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,371,377 (GRCm39)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,490,793 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,454,811 (GRCm39)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,216,221 (GRCm39)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,537,892 (GRCm39)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,283,089 (GRCm39)	S293N	probably benign	Het
Tmed3	G	A	9: 89,584,833 (GRCm39)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,086,843 (GRCm39)	T320K	possibly damaging	Het
Tnn	T	C	1: 159,972,714 (GRCm39)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,620,430 (GRCm39)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,741,049 (GRCm39)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,933,497 (GRCm39)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,581,504 (GRCm39)	V268E	probably damaging	Het
Xirp1	A	T	9: 119,847,841 (GRCm39)	H347Q	possibly 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
R1496:Spag6l	UTSW	16	16,598,478 (GRCm39)	splice site	probably benign
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'- GGAAGCATGGTGACAAGTACTGAACTC -3'
(R):5'- AGGTTCTTCACAGTGACTGTAAACAGC -3'

Sequencing Primer
(F):5'- TGGTGACAAGTACTGAACTCAACAG -3'
(R):5'- CAGTCCTAAATAAAGTGTAGTCAAGC -3'

Posted On

2014-05-14