Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Spata20'

618257

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: 0.299) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94478904-94486179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94479137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 778 (I778L)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021234] [ENSMUST00000041705]

AlphaFold

Q80YT5

Predicted Effect

probably benign
Transcript: ENSMUST00000021234

SMART Domains

Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Ion_trans	119	394	9.2e-66	PFAM
low complexity region	483	507	N/A	INTRINSIC
low complexity region	535	547	N/A	INTRINSIC
Pfam:Ion_trans	777	963	7.9e-46	PFAM
low complexity region	1040	1051	N/A	INTRINSIC
low complexity region	1063	1090	N/A	INTRINSIC
low complexity region	1111	1127	N/A	INTRINSIC
low complexity region	1193	1204	N/A	INTRINSIC
Pfam:Ion_trans	1290	1514	3e-55	PFAM
coiled coil region	1519	1559	N/A	INTRINSIC
low complexity region	1562	1573	N/A	INTRINSIC
Pfam:Ion_trans	1630	1835	3e-49	PFAM
Pfam:PKD_channel	1688	1842	7.8e-11	PFAM
low complexity region	2180	2211	N/A	INTRINSIC
low complexity region	2230	2246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041705
AA Change: I778L

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: I778L

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	T	1: 105,678,177	I181F	probably damaging	Het
Abcc3	A	G	11: 94,345,992	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,070,397	C3604*	probably null	Het
Alas1	A	G	9: 106,235,522	I545T	probably benign	Het
Anpep	A	C	7: 79,841,898	D118E	probably benign	Het
Arhgef17	A	T	7: 100,929,855	S629T	probably damaging	Het
Arid2	C	T	15: 96,368,744	R558C	probably damaging	Het
Camk2n1	A	G	4: 138,456,745	D65G	probably damaging	Het
Ccdc114	A	G	7: 45,942,852	D352G	probably benign	Het
Ccdc177	T	C	12: 80,758,123	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 135,239,848		probably null	Het
Crb1	T	C	1: 139,237,384	I1062V	probably benign	Het
Decr2	A	G	17: 26,082,988	L256P	probably damaging	Het
Dhx37	T	C	5: 125,424,675	M507V	probably benign	Het
Disp1	A	G	1: 183,089,239	I539T	probably damaging	Het
Dqx1	T	A	6: 83,059,807	V264E	probably damaging	Het
Enpp4	A	G	17: 44,102,245	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,349,011	T476A	probably benign	Het
Fam20b	A	G	1: 156,705,837	W70R	probably damaging	Het
Fbxl13	T	A	5: 21,523,568	N508Y	probably damaging	Het
Fjx1	A	G	2: 102,450,375	L405P	probably damaging	Het
Fn1	G	A	1: 71,590,151	Q2399*	probably null	Het
Foxa2	G	C	2: 148,043,989	T308S	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gm10521	A	G	1: 171,896,185	D21G	unknown	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Herpud1	A	G	8: 94,392,386	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Kctd13	A	G	7: 126,929,242	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,701,059	D125Y	probably damaging	Het
Luzp2	A	G	7: 55,075,075	D128G	probably damaging	Het
Lyve1	A	G	7: 110,859,442	C105R	probably damaging	Het
Mlkl	A	T	8: 111,333,454	V100E	probably damaging	Het
Muc5b	T	C	7: 141,867,741	S4323P	possibly damaging	Het
Myoz3	T	G	18: 60,580,850		probably null	Het
Nlrp9c	T	A	7: 26,371,439	N906Y	possibly damaging	Het
Olfr1132	C	T	2: 87,635,503	M81I	probably benign	Het
Olfr248	A	G	1: 174,391,816	H249R	probably damaging	Het
Olfr564	A	T	7: 102,803,556	H26L	possibly damaging	Het
Olfr913	T	C	9: 38,594,890	F223S	probably benign	Het
Pcsk9	G	A	4: 106,454,339	H232Y	possibly damaging	Het
Plec	A	G	15: 76,179,180	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,146,908	T47S	probably damaging	Het
Rab8a	A	T	8: 72,174,595	I106F	probably damaging	Het
Ros1	A	T	10: 52,165,343	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,942,099	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Taar1	A	T	10: 23,921,135	T244S	probably benign	Het
Tmem229b	C	A	12: 78,965,088	C23F	probably damaging	Het
Ttll4	A	G	1: 74,679,230	Y80C	probably benign	Het
Ube2m	G	A	7: 13,035,639	T176I	probably benign	Het
Zfp790	G	A	7: 29,828,921	A344T	possibly damaging	Het
Zfp90	G	A	8: 106,419,128	V31M	probably benign	Het
Zswim4	C	T	8: 84,223,289	R659Q	probably benign	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
R8060:Spata20	UTSW	11	94482239	missense	probably benign
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'- TCACCACGGGACACTGTTAG -3'
(R):5'- TCTCCCAGGTGACACTTTGTG -3'

Sequencing Primer
(F):5'- CCACGGGACACTGTTAGGTTTATTTC -3'
(R):5'- CCAGGTGACACTTTGTGCTCTG -3'

Posted On

2020-01-23