Mutagenetix > Incidental Mutation

Incidental Mutation 'R8447:Spata20'

654563

Institutional Source

Beutler Lab

Gene Symbol

Spata20

Ensembl Gene

ENSMUSG00000020867

Gene Name

spermatogenesis associated 20

Synonyms

Tisp78

MMRRC Submission

067902-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94478904-94486179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94482254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 515 (L515F)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

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

AlphaFold

Q80YT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041705
AA Change: L515F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: L515F

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,907,278	T136P	probably damaging	Het
Abcc3	A	T	11: 94,364,060	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,748,118	N289K	probably damaging	Het
Akap12	A	G	10: 4,356,289	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,598,794	L167F	probably damaging	Het
Cars	T	C	7: 143,570,029	K506E	possibly damaging	Het
Cfap46	C	A	7: 139,680,986	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Clec16a	C	A	16: 10,741,623	T920K	probably benign	Het
Coro2b	C	T	9: 62,426,560	E351K	probably damaging	Het
Diablo	T	C	5: 123,517,766	E163G	probably damaging	Het
Dnah6	A	G	6: 73,138,774	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,983,893	D37E	probably benign	Het
Eml4	A	T	17: 83,448,227	Q408L	probably damaging	Het
F2rl3	T	C	8: 72,763,335	*397R	probably null	Het
Fance	T	A	17: 28,326,181	L127Q	unknown	Het
Fat4	T	C	3: 38,979,675	V2492A	possibly damaging	Het
Gatsl3	T	C	11: 4,220,165	V81A	probably damaging	Het
Ggta1	C	T	2: 35,402,561	D245N	probably damaging	Het
Gli1	T	C	10: 127,330,237	N1049S	probably benign	Het
Grin2c	A	G	11: 115,257,389	V354A	probably benign	Het
Kank4	T	A	4: 98,778,492	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,611,897	V376A	probably benign	Het
Kndc1	T	C	7: 139,901,205	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,421,602	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,498,630	V99D	probably damaging	Het
Lepr	T	C	4: 101,814,491	V904A	probably benign	Het
Lipe	G	T	7: 25,380,592	N710K	probably damaging	Het
Med1	C	A	11: 98,169,414	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,941,000	I96K	probably benign	Het
Obox1	A	T	7: 15,555,616	Q110L	probably damaging	Het
Olfr1101	T	A	2: 86,988,541	I212F	probably benign	Het
Olfr1281	T	A	2: 111,328,962	I181N	possibly damaging	Het
Olfr1289	T	A	2: 111,483,756	Y137N	probably damaging	Het
Olfr1410	C	A	1: 92,607,772		probably benign	Het
Olfr745	T	C	14: 50,642,551	V84A	probably benign	Het
Olfr809	T	G	10: 129,776,502	M211R	possibly damaging	Het
Pah	T	C	10: 87,581,965		probably null	Het
Pate1	A	T	9: 35,686,335	N40K	probably benign	Het
Pclo	C	A	5: 14,681,409	D182E		Het
Prl7a2	A	T	13: 27,665,958	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,172,039	D894V	probably benign	Het
Ripor2	T	A	13: 24,723,788	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,701,029		probably null	Het
Sh2d3c	A	G	2: 32,752,659	T706A	probably damaging	Het
Slc17a2	T	C	13: 23,822,326	F445S	possibly damaging	Het
Tcf20	G	A	15: 82,853,236	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,139,768	P236Q	probably damaging	Het
Tmem135	T	C	7: 89,154,032	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261	Q548R	probably benign	Het
Tmem94	G	T	11: 115,797,197	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,797,870	R1301H	probably benign	Het
Zp3	G	A	5: 135,984,390	G192E	probably 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
R8060:Spata20	UTSW	11	94482239	missense	probably benign
R8335:Spata20	UTSW	11	94482543	missense	probably benign	0.05
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'- AAATGGCCTCATGGTCTGC -3'
(R):5'- AGCTCTATTTGCCAAGCCCC -3'

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

Posted On

2020-10-20