Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Spag6l'

358429

Institutional Source

Beutler Lab

Gene Symbol

Spag6l

Ensembl Gene

ENSMUSG00000022783

Gene Name

sperm associated antigen 6-like

Synonyms

PF16, Spag6

MMRRC Submission

041960-MU

Accession Numbers

Essential gene?

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

Stock #

R4725 (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 16610395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 85 (L85H)

Ref Sequence

ENSEMBL: ENSMUSP00000023468 (fasta)

Gene Model

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

AlphaFold

Q9JLI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023468
AA Change: L85H

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

SMART Domains

Protein: ENSMUSP00000023468
Gene: ENSMUSG00000022783
AA Change: L85H

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: ENSMUST00000147539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154624

Meta Mutation Damage Score

0.6689

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,769 (GRCm39)		probably benign	Het
Adamts20	T	C	15: 94,249,643 (GRCm39)	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,914,052 (GRCm39)	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,617,445 (GRCm39)	M459K	probably benign	Het
Bmal1	C	A	7: 112,903,566 (GRCm39)	P454Q	possibly damaging	Het
Camta1	A	G	4: 151,232,953 (GRCm39)	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,834,481 (GRCm39)	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,494,602 (GRCm39)	V870A	probably benign	Het
Cep192	A	C	18: 67,949,837 (GRCm39)	Q307P	probably benign	Het
Cep63	T	C	9: 102,467,755 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Ctdsp1	G	A	1: 74,433,823 (GRCm39)	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,414,759 (GRCm39)	G761A	probably damaging	Het
Dennd5b	A	G	6: 148,946,277 (GRCm39)	Y445H	probably damaging	Het
Dock1	T	A	7: 134,346,743 (GRCm39)	L225*	probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Dysf	A	T	6: 84,074,738 (GRCm39)	N527I	probably damaging	Het
Erbb2	A	G	11: 98,315,970 (GRCm39)	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,655,689 (GRCm39)		probably null	Het
Ganc	T	C	2: 120,265,754 (GRCm39)	I434T	probably damaging	Het
Gm5830	T	A	1: 78,945,549 (GRCm39)		noncoding transcript	Het
Gm6096	G	T	7: 33,950,484 (GRCm39)	E8*	probably null	Het
Gne	A	G	4: 44,066,806 (GRCm39)	F63S	probably benign	Het
Gpat2	T	C	2: 127,273,902 (GRCm39)	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,070,892 (GRCm39)	L49P	probably damaging	Het
Heatr1	C	T	13: 12,439,543 (GRCm39)	Q1374*	probably null	Het
Hivep1	A	G	13: 42,316,887 (GRCm39)	I2032V	probably benign	Het
Igkv2-112	A	C	6: 68,197,450 (GRCm39)	I40L	probably benign	Het
Kcnab3	A	G	11: 69,221,294 (GRCm39)	N204D	probably benign	Het
Kcnj10	T	A	1: 172,196,726 (GRCm39)	F80Y	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Loxhd1	T	A	18: 77,483,153 (GRCm39)	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Mast1	A	G	8: 85,655,635 (GRCm39)	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,487,956 (GRCm39)	L322P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,143,475 (GRCm39)	V1D	probably damaging	Het
Pah	T	A	10: 87,390,238 (GRCm39)	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,243,596 (GRCm39)		probably null	Het
Pira13	A	C	7: 3,824,547 (GRCm39)	S611A	probably benign	Het
Plekha6	C	A	1: 133,211,058 (GRCm39)	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,658,362 (GRCm39)	S839T	probably damaging	Het
Rusc1	A	G	3: 88,998,736 (GRCm39)	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,742,217 (GRCm39)		noncoding transcript	Het
Scimp	A	G	11: 70,691,539 (GRCm39)	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sgip1	A	G	4: 102,823,419 (GRCm39)	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,259,691 (GRCm39)	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,472,489 (GRCm39)	T95A	probably damaging	Het
Sucla2	T	A	14: 73,806,429 (GRCm39)	Y167N	possibly damaging	Het
Svop	G	T	5: 114,203,546 (GRCm39)		probably benign	Het
Tnxb	A	T	17: 34,918,041 (GRCm39)	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,112,332 (GRCm39)	D43G	probably benign	Het
Ubn2	A	G	6: 38,499,240 (GRCm39)		probably benign	Het
Ufsp1	T	C	5: 137,293,569 (GRCm39)	I173T	probably damaging	Het
Zbtb40	A	G	4: 136,746,072 (GRCm39)		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
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'- ACGGAGAGAAGCTGCTACCA -3'
(R):5'- CACTGTAGTTAGTGTCTGGCTTTCA -3'

Sequencing Primer
(F):5'- AGAGAAGCTGCTACCAAGTTC -3'
(R):5'- TCACAGACAGTTGTAAGCTGC -3'

Posted On

2015-11-11