Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Spata20'

619664

Institutional Source

Beutler Lab

Gene Symbol

Spata20

Ensembl Gene

ENSMUSG00000020867

Gene Name

spermatogenesis associated 20

Synonyms

Tisp78

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94478904-94486179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94482239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 520 (F520L)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041705]

AlphaFold

Q80YT5

Predicted Effect

probably benign
Transcript: ENSMUST00000041705
AA Change: F520L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: F520L

Domain	Start	End	E-Value	Type
Pfam:Thioredox_DsbH	66	228	2.9e-75	PFAM
Pfam:Thioredoxin_7	86	176	1.5e-13	PFAM
SCOP:d1fp3a_	464	686	8e-48	SMART

Coding Region Coverage

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

Validation Efficiency

98% (50/51)

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: 134,990,629		probably benign	Het
Dock1	T	A	7: 135,168,403	D1797E	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
Spata16	T	C	3: 26,840,720	L306P	probably damaging	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 Spata20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Spata20	APN	11	94479117	missense	probably damaging	1.00
IGL01123:Spata20	APN	11	94483395	missense	probably benign
IGL02008:Spata20	APN	11	94483463	missense	probably damaging	1.00
PIT4458001:Spata20	UTSW	11	94484608	missense	probably damaging	1.00
R0136:Spata20	UTSW	11	94480609	missense	probably damaging	1.00
R0243:Spata20	UTSW	11	94481646	missense	probably benign
R0557:Spata20	UTSW	11	94485222	missense	probably benign	0.00
R0657:Spata20	UTSW	11	94480609	missense	probably damaging	1.00
R1712:Spata20	UTSW	11	94480514	missense	probably benign
R2166:Spata20	UTSW	11	94479104	missense	probably benign	0.25
R4298:Spata20	UTSW	11	94483088	missense	probably damaging	0.99
R4740:Spata20	UTSW	11	94484578	missense	possibly damaging	0.94
R4791:Spata20	UTSW	11	94484586	missense	probably damaging	0.99
R4980:Spata20	UTSW	11	94484609	missense	probably damaging	1.00
R5894:Spata20	UTSW	11	94483618	missense	probably damaging	0.98
R6373:Spata20	UTSW	11	94483400	missense	probably benign
R7400:Spata20	UTSW	11	94483400	missense	probably benign
R7439:Spata20	UTSW	11	94484041	missense	probably benign	0.02
R7441:Spata20	UTSW	11	94484041	missense	probably benign	0.02
R7562:Spata20	UTSW	11	94482553	missense	probably benign	0.31
R7974:Spata20	UTSW	11	94484140	missense	possibly damaging	0.66
R8036:Spata20	UTSW	11	94479137	missense	probably benign	0.17
R8335:Spata20	UTSW	11	94482543	missense	probably benign	0.05
R8447:Spata20	UTSW	11	94482254	missense	probably damaging	1.00
R8676:Spata20	UTSW	11	94481781	missense	probably damaging	1.00
R9492:Spata20	UTSW	11	94483618	missense	probably damaging	0.98
Z1176:Spata20	UTSW	11	94480535	missense	probably benign	0.45
Z1177:Spata20	UTSW	11	94483139	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAATGGCCTCATGGTCTGC -3'
(R):5'- AGCTCTATTTGCCAAGCCC -3'

Sequencing Primer
(F):5'- TGGTCTGCCCAGCCTCC -3'
(R):5'- CTTCATAGGCCTTTTGAAATTTTGAC -3'

Posted On

2020-01-23