Mutagenetix > Incidental Mutation

Incidental Mutation 'R8108:Spata5'

630713

Institutional Source

Beutler Lab

Gene Symbol

Spata5

Ensembl Gene

ENSMUSG00000027722

Gene Name

spermatogenesis associated 5

Synonyms

C78064, 2510048F20Rik, Spaf

MMRRC Submission

067537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37419896-37579096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37431782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 218 (S218P)

Ref Sequence

ENSEMBL: ENSMUSP00000103747 (fasta)

Gene Model

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

AlphaFold

Q3UMC0

Predicted Effect

probably benign
Transcript: ENSMUST00000029277
AA Change: S217P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: S217P

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

probably benign
Transcript: ENSMUST00000108112
AA Change: S218P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: S218P

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

possibly damaging
Transcript: ENSMUST00000198968
AA Change: S218P

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: S218P

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

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,017,361	H414Q	probably benign	Het
Actrt2	A	T	4: 154,667,036	D214E	probably benign	Het
Ccdc7a	T	C	8: 128,980,153	T332A	unknown	Het
Chd9	C	T	8: 90,933,224	H271Y	unknown	Het
Depdc5	T	G	5: 32,945,049	D966E	probably benign	Het
Dolpp1	A	G	2: 30,396,246	Y119C	probably benign	Het
Dscam	G	C	16: 96,643,879	D1537E	probably benign	Het
Dusp16	A	G	6: 134,739,873	I157T	probably benign	Het
Dyrk2	T	C	10: 118,859,829	D508G	probably benign	Het
Endov	T	C	11: 119,507,411	V334A	probably benign	Het
Ep400	A	T	5: 110,687,883	V1956E	unknown	Het
Erich3	A	T	3: 154,720,115	Y83F	possibly damaging	Het
Fbrsl1	T	C	5: 110,378,379		probably null	Het
Gm1110	T	C	9: 26,920,661	I65V	probably damaging	Het
Gm28374	A	G	19: 6,082,200	V19A		Het
Gm436	A	T	4: 144,670,669	N164K	probably benign	Het
Gpr107	C	A	2: 31,184,869	H336Q	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Grm1	C	A	10: 10,720,132	R584L	probably benign	Het
Gse1	T	C	8: 120,229,810	S347P	unknown	Het
Ier3ip1	T	A	18: 76,940,525	I69K	possibly damaging	Het
Impact	T	G	18: 12,984,331	L154V	probably benign	Het
Katnb1	T	C	8: 95,093,945	F141S	possibly damaging	Het
Kifap3	T	A	1: 163,797,362	N162K	probably damaging	Het
Klhl5	A	G	5: 65,148,587		probably null	Het
Klre1	A	G	6: 129,584,222	D182G	probably benign	Het
Krt42	T	A	11: 100,266,957	Y227F	probably benign	Het
Lhcgr	T	A	17: 88,742,050	K683*	probably null	Het
Lrrc37a	G	A	11: 103,503,057	S514F	probably benign	Het
Lrrc9	G	T	12: 72,454,059	L186F	probably damaging	Het
Metrn	A	G	17: 25,795,030	V274A	probably benign	Het
Mettl25	A	T	10: 105,823,179	F414L	possibly damaging	Het
Mixl1	A	G	1: 180,696,702	V104A	probably damaging	Het
Myo9b	T	A	8: 71,348,342	M1047K	probably damaging	Het
Nbea	G	A	3: 55,819,315	A2081V	probably benign	Het
Ndufs1	A	T	1: 63,150,012	D551E	possibly damaging	Het
Nectin3	T	C	16: 46,464,121	T67A	possibly damaging	Het
Nme8	C	T	13: 19,650,960	V519I	probably benign	Het
Npat	G	T	9: 53,571,129	G1379V	probably benign	Het
Obscn	T	A	11: 59,061,634	T3870S	probably benign	Het
Olfr1000	T	C	2: 85,608,749	R54G	possibly damaging	Het
Olfr1288	T	C	2: 111,479,234	V150A	possibly damaging	Het
Olfr177	T	C	16: 58,872,236	M305V	probably benign	Het
Olfr379-ps1	T	A	11: 73,433,854	H124L	unknown	Het
Olfr871	T	A	9: 20,212,451	M34K	possibly damaging	Het
Olfr910	A	G	9: 38,539,410	N172D	probably damaging	Het
Parp8	A	T	13: 116,867,073	Y769*	probably null	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,506	S2181L	probably benign	Het
Phldb1	T	C	9: 44,711,161	E65G	probably damaging	Het
Ppif	C	T	14: 25,698,326	T157M	probably damaging	Het
Ppp3ca	T	A	3: 136,932,225		probably null	Het
Proser1	T	A	3: 53,472,088		probably null	Het
Reg3d	T	A	6: 78,376,079	K174*	probably null	Het
Rubcn	A	T	16: 32,856,950	L55Q	probably damaging	Het
Sec14l3	T	C	11: 4,066,198	L39P	probably damaging	Het
Ska3	A	G	14: 57,826,102	I4T	probably damaging	Het
Slc30a10	A	G	1: 185,464,154	I338V	possibly damaging	Het
Slc35g1	C	G	19: 38,402,829	S186R	probably damaging	Het
Slc35g1	T	A	19: 38,402,831	L187H	probably damaging	Het
Tbc1d5	T	C	17: 50,742,086	I659V	probably benign	Het
Tbl3	G	T	17: 24,700,916	D751E	probably benign	Het
Tdrd3	T	A	14: 87,486,266	D311E	possibly damaging	Het
Tenm4	T	C	7: 96,854,728	F1335S	probably benign	Het
Tm2d1	A	T	4: 98,375,023	C83S	probably damaging	Het
Tnfrsf22	A	T	7: 143,638,373	V192D	unknown	Het
Trpm6	A	G	19: 18,811,790	T575A	probably damaging	Het
Uri1	T	C	7: 37,981,673	D102G	possibly damaging	Het
Vmn2r1	T	A	3: 64,103,050	C570S	probably damaging	Het
Vps13a	C	T	19: 16,640,787	V2906I	probably damaging	Het
Zfp472	T	C	17: 32,978,003	Y351H	possibly damaging	Het
Zfp874a	G	T	13: 67,443,234	Y110*	probably null	Het
Zfp986	T	A	4: 145,899,305	N178K	probably benign	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
IGL02891:Spata5	APN	3	37426192	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- CTGATACTGTGTGATATATGCCCTC -3'
(R):5'- TAGGGCTCTGTGTGACATCC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTTGAGAGGC -3'
(R):5'- TCTGTGTGACATCCAACAAAACTTC -3'

Posted On

2020-06-30