Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02630:Spaca6'

301256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spaca6

Ensembl Gene

ENSMUSG00000080316

Gene Name

sperm acrosome associated 6

Synonyms

B230206P06Rik, 4930546H06Rik, Ncrna00085

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02630

Quality Score

Status

Chromosome

Chromosomal Location

17827158-17843009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17831089 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 9 (L9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000139969] [ENSMUST00000150302] [ENSMUST00000172097] [ENSMUST00000226899] [ENSMUST00000228490]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000012759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137228

Predicted Effect

probably damaging
Transcript: ENSMUST00000139969
AA Change: L9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
AA Change: L9Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:IG	151	186	1e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000150302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155293

Predicted Effect

probably damaging
Transcript: ENSMUST00000172097
AA Change: L29Q

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

SMART Domains

Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: L29Q

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
IG	171	260	2.08e-1	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196737

Predicted Effect

probably benign
Transcript: ENSMUST00000226899

Predicted Effect

probably benign
Transcript: ENSMUST00000228490

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgene insertion that inactivates this gene exhibit impaired fertilization and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 9,012,077	V3575E	probably damaging	Het
Arfgef3	G	A	10: 18,661,392		probably benign	Het
Arhgap23	A	G	11: 97,454,297	T631A	probably benign	Het
Chka	T	A	19: 3,892,112	H355Q	possibly damaging	Het
Ctsj	C	T	13: 61,001,400	A277T	probably damaging	Het
Ddx49	T	C	8: 70,301,018	D67G	probably damaging	Het
Dennd4b	T	C	3: 90,272,977	S716P	probably benign	Het
Enpp5	G	T	17: 44,082,875	D321Y	probably damaging	Het
Espl1	A	G	15: 102,296,818	E17G	probably benign	Het
Fam161b	G	A	12: 84,353,914	P428L	probably benign	Het
Fbxw7	T	C	3: 84,965,279	L256S	probably damaging	Het
Fgfr2	G	T	7: 130,228,795		probably null	Het
Foxred2	C	T	15: 77,947,162	V484I	probably benign	Het
Gm4744	T	A	6: 40,950,469		probably benign	Het
Gm5724	T	C	6: 141,723,110	Y532C	probably damaging	Het
Hipk2	T	C	6: 38,818,521	N271S	possibly damaging	Het
Hist1h3a	C	T	13: 23,762,248	V36M	probably benign	Het
Ifna1	A	G	4: 88,850,259	D58G	possibly damaging	Het
Igkv4-80	A	T	6: 69,016,696	Y70*	probably null	Het
Ivns1abp	G	A	1: 151,359,635	R218H	probably damaging	Het
Kng1	A	T	16: 23,079,845		probably benign	Het
Lars	T	C	18: 42,257,169	D11G	probably damaging	Het
Lgals12	T	C	19: 7,601,242		probably benign	Het
Lpar4	T	A	X: 106,931,211	F334I	probably benign	Het
Muc5b	G	A	7: 141,863,231	G3305S	probably benign	Het
Nalcn	T	C	14: 123,317,879	D864G	probably benign	Het
Ndor1	T	C	2: 25,255,287	E22G	probably damaging	Het
Nt5c2	T	A	19: 46,924,310	M69L	probably benign	Het
Olfr1054	T	C	2: 86,332,868	I163V	probably benign	Het
Olfr599	A	C	7: 103,338,429	Y125S	probably damaging	Het
Pde12	A	T	14: 26,666,397	H455Q	probably damaging	Het
Pdia6	A	G	12: 17,274,421	H91R	probably benign	Het
Pdk4	A	T	6: 5,491,671	I179K	possibly damaging	Het
Prl2c1	T	C	13: 27,857,497		probably benign	Het
Rasgrf2	C	T	13: 92,131,392	E35K	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sash1	T	A	10: 8,744,535	M454L	probably benign	Het
Secisbp2	C	A	13: 51,678,906	T608K	possibly damaging	Het
Slmap	A	G	14: 26,422,431	V750A	possibly damaging	Het
Sycp1	T	C	3: 102,878,764		probably benign	Het
Sycp2	A	T	2: 178,401,919	D131E	probably damaging	Het
Tc2n	A	T	12: 101,693,145	D176E	probably damaging	Het
Thoc7	T	C	14: 13,953,154	I83V	probably damaging	Het
Trank1	T	C	9: 111,373,075	V1590A	possibly damaging	Het
Tyrp1	T	C	4: 80,840,757	V289A	possibly damaging	Het
Ube2dnl1	T	A	X: 114,905,786	C119*	probably null	Het
Vmn1r191	T	A	13: 22,179,261	I108F	possibly damaging	Het
Zfp710	T	A	7: 80,082,041	I322N	probably damaging	Het

Other mutations in Spaca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Spaca6	APN	17	17831167	missense	probably benign	0.41
IGL03010:Spaca6	APN	17	17838405	missense	probably benign	0.01
IGL03352:Spaca6	APN	17	17838139	missense	probably damaging	1.00
R0021:Spaca6	UTSW	17	17838236	nonsense	probably null
R0964:Spaca6	UTSW	17	17838391	missense	possibly damaging	0.46
R1941:Spaca6	UTSW	17	17838402	missense	probably benign	0.05
R1941:Spaca6	UTSW	17	17838430	missense	probably damaging	0.99
R2197:Spaca6	UTSW	17	17836154	critical splice donor site	probably null
R2235:Spaca6	UTSW	17	17838245	critical splice donor site	probably null
R4602:Spaca6	UTSW	17	17831125	missense	probably damaging	0.99
R4645:Spaca6	UTSW	17	17836045	intron	probably benign
R4672:Spaca6	UTSW	17	17836743	nonsense	probably null
R5044:Spaca6	UTSW	17	17831196	missense	probably benign	0.00
R5212:Spaca6	UTSW	17	17838394	missense	probably benign	0.01
R5222:Spaca6	UTSW	17	17838105	missense	probably benign	0.02
R5528:Spaca6	UTSW	17	17831082	missense	probably benign
R5854:Spaca6	UTSW	17	17831247	nonsense	probably null
R6029:Spaca6	UTSW	17	17831196	missense	probably benign	0.00
R7041:Spaca6	UTSW	17	17836096	missense	probably benign	0.14
R7268:Spaca6	UTSW	17	17832107	missense	probably benign	0.09
R8281:Spaca6	UTSW	17	17832059	missense	possibly damaging	0.78
Z1177:Spaca6	UTSW	17	17831052	missense	probably benign	0.18

Posted On

2015-04-16