Mutagenetix > Incidental Mutations

Incidental Mutation 'R8060:Spata16'

619636

Institutional Source

Beutler Lab

Gene Symbol

Spata16

Ensembl Gene

ENSMUSG00000039335

Gene Name

spermatogenesis associated 16

Synonyms

spermatogenesis-related protein, 4921511F01Rik, 4930503K02Rik, Nyd-sp12

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26637620-26983212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26840720 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 306 (L306P)

Ref Sequence

ENSEMBL: ENSMUSP00000043378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047005] [ENSMUST00000108305]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047005
AA Change: L306P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: L306P

Domain	Start	End	E-Value	Type
Pfam:NYD-SP12_N	5	569	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108305
AA Change: L306P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: L306P

Domain	Start	End	E-Value	Type
Pfam:NYD-SP12_N	1	534	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,575,648	Y2*	probably null	Het
Ano5	T	A	7: 51,587,783	V785E	probably benign	Het
Arhgef10	A	T	8: 14,954,446	R399S	probably damaging	Het
Arhgef40	A	G	14: 51,984,995		probably benign	Het
Armc3	G	T	2: 19,288,909	V504L	probably benign	Het
Asb10	T	A	5: 24,533,835	Y408F	probably benign	Het
Catsperb	A	T	12: 101,602,766	N899I	probably damaging	Het
Ccdc112	T	C	18: 46,293,462	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,394,560	S442T	unknown	Het
Cit	G	A	5: 115,908,727	V400M	probably benign	Het
Copg1	T	C	6: 87,909,721	F772L	probably damaging	Het
Cts3	T	A	13: 61,566,766	I242F	probably damaging	Het
Dock1	T	A	7: 135,168,403	D1797E	probably benign	Het
Dock1	T	A	7: 134,990,629		probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,438,610	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,137,285	E87G	probably benign	Het
Has2	T	A	15: 56,669,945	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,034,105	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,748,343	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,682,376		probably benign	Het
Larp1b	T	C	3: 40,985,402	V330A		Het
Mast4	T	C	13: 102,737,676	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,493,903	F284I	probably damaging	Het
Moxd1	A	G	10: 24,301,612	S609G	unknown	Het
Myh1	A	C	11: 67,215,251	M1231L	probably benign	Het
Nup107	T	C	10: 117,763,769	E615G	probably damaging	Het
Olfr1153	A	T	2: 87,896,973	Y258F	probably damaging	Het
Olfr1178	A	G	2: 88,391,504	T86A	probably benign	Het
Olfr1258	A	T	2: 89,930,349	N180I	probably benign	Het
Olfr387-ps1	T	C	11: 73,664,939	I110T	probably benign	Het
Olfr476	A	G	7: 107,967,405	T3A	probably benign	Het
Olfr775	A	C	10: 129,251,046	T171P	possibly damaging	Het
Pln	A	T	10: 53,343,897	I12F	unknown	Het
Pomt2	G	A	12: 87,129,006	A388V	probably damaging	Het
Rbl2	T	A	8: 91,096,869		probably null	Het
Rnpep	T	C	1: 135,266,920	Y459C	probably damaging	Het
Slc23a4	T	C	6: 34,948,401	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,945,010	L338M	possibly damaging	Het
Smco2	C	A	6: 146,866,785	Q221K	probably benign	Het
Snx20	G	T	8: 88,627,645	C152*	probably null	Het
Spata20	A	T	11: 94,482,239	F520L	probably benign	Het
Sptbn1	A	T	11: 30,101,616	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,254,109	T250I	probably benign	Het
Trim34a	G	T	7: 104,260,976	W328C	probably damaging	Het
Trim42	T	G	9: 97,363,479	M423L	probably damaging	Het
Trpm4	T	C	7: 45,305,451	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,674,531	K238*	probably null	Het
Tshr	A	C	12: 91,538,360	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 18,837,862	H560L	possibly damaging	Het

Other mutations in Spata16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Spata16	APN	3	26924262	missense	probably damaging	0.98
IGL01017:Spata16	APN	3	26840722	missense	possibly damaging	0.93
IGL01129:Spata16	APN	3	26913184	splice site	probably benign
IGL01330:Spata16	APN	3	26914715	missense	probably damaging	0.99
IGL02033:Spata16	APN	3	26913334	critical splice donor site	probably null
IGL02069:Spata16	APN	3	26732795	nonsense	probably null
IGL02231:Spata16	APN	3	26913264	missense	probably damaging	1.00
R0084:Spata16	UTSW	3	26667410	missense	possibly damaging	0.95
R0109:Spata16	UTSW	3	26913267	missense	probably damaging	0.97
R0109:Spata16	UTSW	3	26913267	missense	probably damaging	0.97
R0325:Spata16	UTSW	3	26667456	missense	probably damaging	0.98
R0811:Spata16	UTSW	3	26913338	splice site	probably benign
R2061:Spata16	UTSW	3	26924370	missense	probably damaging	0.99
R3148:Spata16	UTSW	3	26878712	critical splice donor site	probably null
R4837:Spata16	UTSW	3	26732932	missense	possibly damaging	0.93
R4972:Spata16	UTSW	3	26840723	missense	possibly damaging	0.93
R5129:Spata16	UTSW	3	26667564	missense	probably damaging	0.98
R5235:Spata16	UTSW	3	26667632	missense	probably benign	0.00
R5458:Spata16	UTSW	3	26777537	missense	probably damaging	0.99
R6578:Spata16	UTSW	3	26667548	nonsense	probably null
R7069:Spata16	UTSW	3	26927334	missense	probably damaging	0.99
R7256:Spata16	UTSW	3	26667867	missense	probably benign	0.25
R7936:Spata16	UTSW	3	26667423	missense	possibly damaging	0.71
R8015:Spata16	UTSW	3	26667659	missense	probably benign
R8161:Spata16	UTSW	3	26840662	missense	probably benign	0.16
R8459:Spata16	UTSW	3	26667527	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCCGGTTAAATGTGTGCATTG -3'
(R):5'- GCATGCCTGGGACATTGTTC -3'

Sequencing Primer
(F):5'- CGGTTAAATGTGTGCATTGTGAAATC -3'
(R):5'- TTGTAAAACTCAAGAACGGGCC -3'

Posted On

2020-01-23