Mutagenetix > Incidental Mutations

Incidental Mutation 'R1773:Spata5'

196786

Institutional Source

Beutler Lab

Gene Symbol

Spata5

Ensembl Gene

ENSMUSG00000027722

Gene Name

spermatogenesis associated 5

Synonyms

C78064, 2510048F20Rik, Spaf

MMRRC Submission

039804-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37419896-37579096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37439185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 515 (F515L)

Ref Sequence

ENSEMBL: ENSMUSP00000103747 (fasta)

Gene Model

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

AlphaFold

Q3UMC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029277
AA Change: F514L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: F514L

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 damaging
Transcript: ENSMUST00000108112
AA Change: F515L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: F515L

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: ENSMUST00000124347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142199

Predicted Effect

probably damaging
Transcript: ENSMUST00000198968
AA Change: F515L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: F515L

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,580,595	K334E	probably damaging	Het
Abca12	A	G	1: 71,288,596	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,757,557	T79A	probably benign	Het
Adipoq	A	C	16: 23,155,238	Q26P	unknown	Het
Akap13	T	A	7: 75,683,451	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,779,096	T133A	probably benign	Het
Anks3	T	C	16: 4,947,294	T418A	probably benign	Het
Ano3	A	C	2: 110,761,455	L37R	probably damaging	Het
Ano9	A	G	7: 141,108,378	F178L	possibly damaging	Het
Arhgef12	A	G	9: 43,005,542		probably null	Het
Arl16	T	A	11: 120,465,763	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,319,931	S959T	possibly damaging	Het
C530008M17Rik	G	T	5: 76,867,205	A42S	possibly damaging	Het
Ccdc27	C	T	4: 154,041,765	R89Q	unknown	Het
Cd109	A	C	9: 78,703,724	Q1207H	probably benign	Het
Cd14	A	T	18: 36,725,304	V366D	possibly damaging	Het
Cep290	G	A	10: 100,510,573	V538I	probably benign	Het
Cep57	G	A	9: 13,816,068	A202V	probably damaging	Het
Chl1	T	C	6: 103,647,331		probably null	Het
Cmah	T	G	13: 24,417,299	F29L	probably benign	Het
Crybg1	A	G	10: 43,992,548	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,470,722	K227R	probably benign	Het
D130043K22Rik	T	G	13: 24,882,602	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,599,902	T645S	probably benign	Het
Dhcr7	C	T	7: 143,847,458	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,752,363	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,193,961	D860E	probably benign	Het
Dnah7a	T	C	1: 53,432,887		probably null	Het
Dst	A	G	1: 34,291,899	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,507,107	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,446,584	G328V	probably damaging	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Espn	G	T	4: 152,128,229	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,584,334	P185L	possibly damaging	Het
Fam71f1	T	C	6: 29,334,153	S335P	possibly damaging	Het
Fn1	T	A	1: 71,637,383	D563V	probably damaging	Het
Gad2	A	G	2: 22,690,207	Y540C	probably benign	Het
Gdf11	T	C	10: 128,891,294	D131G	probably damaging	Het
Gm19965	T	A	1: 116,821,259	Y223*	probably null	Het
H2-M10.6	A	G	17: 36,812,184	K3R	probably benign	Het
Hid1	A	G	11: 115,348,510	Y776H	probably damaging	Het
Hivep3	A	T	4: 120,098,837	K1450I	probably damaging	Het
Icam5	T	C	9: 21,033,525	L128P	possibly damaging	Het
Idnk	T	C	13: 58,157,712	V9A	probably damaging	Het
Il4ra	A	T	7: 125,567,182	T33S	possibly damaging	Het
Ino80	A	G	2: 119,418,409	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,785,570		probably benign	Het
Lrrk2	A	G	15: 91,779,981	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,471,160	A369V	probably benign	Het
Nek6	A	G	2: 38,582,419	M252V	probably benign	Het
Nfasc	T	A	1: 132,610,839	I443F	probably damaging	Het
Nme8	T	G	13: 19,697,036	M1L	probably damaging	Het
Npnt	T	A	3: 132,904,693	Q423L	possibly damaging	Het
Nup133	A	T	8: 123,930,983	C404*	probably null	Het
Olfr1232	A	G	2: 89,325,742	V146A	probably benign	Het
Olfr1307	A	G	2: 111,944,859	V199A	possibly damaging	Het
Olfr1535	T	C	13: 21,555,812	D70G	probably damaging	Het
Olfr262	T	C	19: 12,241,659	M1V	probably null	Het
Olfr684	T	C	7: 105,156,983	E233G	probably benign	Het
Olfr806	A	G	10: 129,738,443	L158S	probably damaging	Het
Otog	T	A	7: 46,288,159	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,363,452	I127M	probably benign	Het
P4hb	C	A	11: 120,572,726	V28F	probably damaging	Het
Pbld2	C	T	10: 63,054,371	A186V	probably benign	Het
Pdzph1	G	T	17: 58,974,813	T158K	probably damaging	Het
Pgm1	T	A	5: 64,107,851		probably null	Het
Phip	A	T	9: 82,876,189	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,246,370	S923P	probably benign	Het
Pikfyve	T	C	1: 65,192,271	L100P	probably damaging	Het
Pla2g4e	A	G	2: 120,244,721	S63P	probably benign	Het
Plekhh2	A	G	17: 84,599,265	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,318	Y192*	probably null	Het
Pten	T	A	19: 32,798,072	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 180,281,194	L202P	probably benign	Het
Ripor2	T	A	13: 24,701,254	S491T	probably benign	Het
Robo1	A	T	16: 73,004,511	I1008F	probably benign	Het
Scg2	T	C	1: 79,435,635	N417S	probably benign	Het
Scn8a	A	G	15: 101,039,615	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,594,229	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,471,465	T416S	possibly damaging	Het
Spata32	T	A	11: 103,208,818	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,075,352	G196D	probably damaging	Het
Tgm5	G	T	2: 121,077,650	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,826,501		probably null	Het
Tmem177	T	C	1: 119,910,576	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,435,901	F34S	probably damaging	Het
Tsn	T	C	1: 118,305,239	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,776	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,469,073	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,650,224	R583W	probably damaging	Het
Wnt1	T	C	15: 98,791,757	S142P	probably damaging	Het
Wrn	A	T	8: 33,343,561	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,072,891	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,007,106	T539A	probably damaging	Het
Zswim8	T	A	14: 20,711,530	M177K	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
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
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
Z1176:Spata5	UTSW	3	37431750	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- ccactgcctggctAAAGTTAATAAATGTCT -3'
(R):5'- ACCTGCCTCATTACACAACGCTTTC -3'

Sequencing Primer
(F):5'- aaatccacctgtctctgcc -3'
(R):5'- TACACAACGCTTTCAAGTCTG -3'

Posted On

2014-05-23