Mutagenetix > Incidental Mutations

Incidental Mutation 'H8930:Spata1'

542

Institutional Source

Beutler Lab

Gene Symbol

Spata1

Ensembl Gene

ENSMUSG00000028188

Gene Name

spermatogenesis associated 1

Synonyms

SP-2, 4921536I21Rik

Accession Numbers

Genbank: NM_027617

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

H8930 (G3) of strain frazz

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146457196-146499753 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 146487271 bp

Zygosity

Homozygous

Amino Acid Change

Leucine to Stop codon at position 155 (L155*)

Ref Sequence

ENSEMBL: ENSMUSP00000142800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000093951] [ENSMUST00000197980]

Predicted Effect

probably null
Transcript: ENSMUST00000029839
AA Change: L155*

SMART Domains

Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: L155*

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:SPATA1_C	279	428	1.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093951

SMART Domains

Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197684

Predicted Effect

probably null
Transcript: ENSMUST00000197980
AA Change: L155*

SMART Domains

Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: L155*

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
SCOP:d1eq1a_	267	365	8e-5	SMART

Meta Mutation Damage Score

0.9223

Coding Region Coverage

1x: 77.1%
3x: 50.6%

Het Detection Efficiency

25.5%

Validation Efficiency

74% (89/120)

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc20b	A	T	13: 113,083,966	I460F	probably damaging	Homo
Ddx4	A	C	13: 112,613,833		probably null	Homo
Ick	T	A	9: 78,150,619	I150N	possibly damaging	Het
Malt1	T	G	18: 65,462,815	Y442*	probably null	Het
Mtr	A	G	13: 12,235,460	S346P	probably damaging	Het
Nup155	T	C	15: 8,157,658	V1357A	possibly damaging	Het
Prl3c1	T	A	13: 27,200,706	L46*	probably null	Het

Other mutations in Spata1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Spata1	APN	3	146476242	missense	possibly damaging	0.94
IGL01306:Spata1	APN	3	146487399	nonsense	probably null
IGL01537:Spata1	APN	3	146489803	splice site	probably benign
IGL02363:Spata1	APN	3	146487364	missense	possibly damaging	0.96
IGL02873:Spata1	APN	3	146487367	missense	possibly damaging	0.86
IGL02898:Spata1	APN	3	146475339	missense	possibly damaging	0.71
IGL03071:Spata1	APN	3	146475334	missense	possibly damaging	0.93
IGL03204:Spata1	APN	3	146488679	missense	probably benign	0.18
ANU23:Spata1	UTSW	3	146487399	nonsense	probably null
R0414:Spata1	UTSW	3	146476188	splice site	probably null
R1109:Spata1	UTSW	3	146475298	missense	possibly damaging	0.51
R1742:Spata1	UTSW	3	146469623	critical splice donor site	probably null
R1816:Spata1	UTSW	3	146481207	missense	probably damaging	0.98
R2006:Spata1	UTSW	3	146493683	missense	probably benign	0.18
R2851:Spata1	UTSW	3	146487540	missense	possibly damaging	0.96
R2852:Spata1	UTSW	3	146487540	missense	possibly damaging	0.96
R3416:Spata1	UTSW	3	146487508	splice site	probably benign
R3911:Spata1	UTSW	3	146475324	missense	probably damaging	0.99
R4856:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R4859:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R4886:Spata1	UTSW	3	146469774	missense	probably damaging	0.99
R6902:Spata1	UTSW	3	146475323	missense	possibly damaging	0.77
R7459:Spata1	UTSW	3	146476222	missense	possibly damaging	0.86
R7532:Spata1	UTSW	3	146468191	missense	possibly damaging	0.86
R7997:Spata1	UTSW	3	146476280	missense	probably benign	0.44
R8194:Spata1	UTSW	3	146489859	missense	possibly damaging	0.72

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 699 of the Spata1 transcript in exon 6 of 15 total exons. Three transcripts of the Spata1 gene are displayed on Ensembl and Vega. The mutated nucleotide introduces a premature stop codon at leucine 155 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Spata1 gene encodes a 444 amino acid protein that may have a role in spermatogenesis. Two isoforms are produced by alternative splicing. Isoform 2 contains an alternative C-terminus and truncates at amino acid 114 (Uniprot Q9D5R4).

The premature stop introduced by the Frazz mutation in the Spata1 gene truncates 290 amino acids from the C-terminus of the protein. This allele is likely null.

Posted On

2010-11-11