Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02891:Spata5'

363179

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata5

Ensembl Gene

ENSMUSG00000027722

Gene Name

spermatogenesis associated 5

Synonyms

C78064, 2510048F20Rik, Spaf

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02891

Quality Score

Status

Chromosome

Chromosomal Location

37419896-37579096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37426192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 130 (V130D)

Ref Sequence

ENSEMBL: ENSMUSP00000143349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]

AlphaFold

Q3UMC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029277
AA Change: V129D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: V129D

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	135	2.47e-1	SMART
low complexity region	276	287	N/A	INTRINSIC
AAA	385	524	4.96e-21	SMART
Blast:AAA	553	622	9e-21	BLAST
AAA	659	797	2.48e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108112
AA Change: V130D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: V130D

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	136	1.14e0	SMART
low complexity region	277	288	N/A	INTRINSIC
AAA	386	525	4.96e-21	SMART
Blast:AAA	554	623	9e-21	BLAST
AAA	660	798	2.48e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147687

Predicted Effect

probably damaging
Transcript: ENSMUST00000198968
AA Change: V130D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: V130D

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	136	8.6e-5	SMART
low complexity region	277	288	N/A	INTRINSIC
AAA	386	525	8.2e-23	SMART
Blast:AAA	554	623	7e-21	BLAST
AAA	660	798	4e-23	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	C	T	3: 108,464,392	R672Q	probably benign	Het
Abca17	A	G	17: 24,281,366	S1284P	probably damaging	Het
Adgrf1	T	C	17: 43,311,161	V763A	probably damaging	Het
Adhfe1	T	A	1: 9,558,171	M256K	probably benign	Het
Chit1	A	G	1: 134,145,310	S125G	probably benign	Het
Clu	T	A	14: 65,975,984	F273Y	probably damaging	Het
Dgki	T	C	6: 36,913,741	D869G	probably benign	Het
Emx1	T	C	6: 85,204,085		probably benign	Het
Ercc2	T	G	7: 19,393,286	F316C	probably damaging	Het
Fam81a	A	G	9: 70,110,276	L129P	probably damaging	Het
Fat4	T	A	3: 38,951,273	N1940K	probably damaging	Het
Fbxl13	G	A	5: 21,522,100		probably benign	Het
Kcnt2	T	A	1: 140,574,806	D879E	probably damaging	Het
Kti12	T	G	4: 108,848,533	S215A	probably benign	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Ntn5	G	T	7: 45,686,224	L26F	probably damaging	Het
Nwd2	A	G	5: 63,725,227	N74S	possibly damaging	Het
Olfr109	T	A	17: 37,466,944	V246E	probably damaging	Het
Olfr709-ps1	A	G	7: 106,927,081	V126A	probably damaging	Het
Phactr4	T	C	4: 132,387,023	D20G	probably damaging	Het
Ptpn23	G	A	9: 110,388,020	Q923*	probably null	Het
Rfx6	T	A	10: 51,723,846	S333T	possibly damaging	Het
Skint10	T	A	4: 112,728,826	I198F	probably benign	Het
Taf3	G	A	2: 9,921,227	P647L	probably damaging	Het
Tbcb	T	C	7: 30,233,434		probably benign	Het
Tmem63c	T	C	12: 87,071,268	F216L	probably benign	Het
Ttc30b	C	T	2: 75,937,060	V450M	possibly damaging	Het
Uba5	A	G	9: 104,054,193		probably benign	Het
Usp34	C	A	11: 23,487,166	Q217K	probably benign	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn2r99	G	A	17: 19,378,690	W212*	probably null	Het
Zfp687	G	T	3: 95,011,946	P172T	probably damaging	Het

Other mutations in Spata5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Spata5	APN	3	37451802	missense	possibly damaging	0.60
IGL00472:Spata5	APN	3	37436644	missense	probably benign
IGL02664:Spata5	APN	3	37436665	missense	probably damaging	1.00
IGL02797:Spata5	APN	3	37458316	splice site	probably benign
IGL02869:Spata5	APN	3	37464545	missense	probably damaging	1.00
IGL03065:Spata5	APN	3	37432179	missense	possibly damaging	0.75
IGL03121:Spata5	APN	3	37464651	missense	probably damaging	1.00
IGL03178:Spata5	APN	3	37578783	missense	probably damaging	1.00
R0494:Spata5	UTSW	3	37432163	missense	possibly damaging	0.79
R0621:Spata5	UTSW	3	37432029	missense	probably benign	0.06
R0908:Spata5	UTSW	3	37431623	splice site	probably null
R1773:Spata5	UTSW	3	37439185	missense	probably damaging	0.99
R2016:Spata5	UTSW	3	37578762	missense	possibly damaging	0.48
R3714:Spata5	UTSW	3	37433209	missense	probably benign
R3836:Spata5	UTSW	3	37433643	missense	possibly damaging	0.91
R4548:Spata5	UTSW	3	37432027	missense	probably benign	0.03
R4695:Spata5	UTSW	3	37458325	missense	probably damaging	1.00
R4758:Spata5	UTSW	3	37433236	missense	probably benign	0.01
R5009:Spata5	UTSW	3	37433277	splice site	probably benign
R5839:Spata5	UTSW	3	37464654	missense	probably damaging	1.00
R6437:Spata5	UTSW	3	37528198	missense	probably damaging	1.00
R7067:Spata5	UTSW	3	37431698	nonsense	probably null
R7450:Spata5	UTSW	3	37456785	missense	probably damaging	1.00
R7889:Spata5	UTSW	3	37578810	missense	probably benign	0.01
R7898:Spata5	UTSW	3	37420471	missense	probably benign	0.04
R8108:Spata5	UTSW	3	37431782	missense	probably benign	0.25
R8511:Spata5	UTSW	3	37436748	missense	probably damaging	0.99
R8870:Spata5	UTSW	3	37448512	missense	probably benign	0.35
R8941:Spata5	UTSW	3	37431993	missense	probably damaging	0.97
R9475:Spata5	UTSW	3	37431909	missense	probably benign
R9605:Spata5	UTSW	3	37451781	missense	probably damaging	1.00
Z1176:Spata5	UTSW	3	37431750	missense	possibly damaging	0.67

Posted On

2015-12-18