Mutagenetix > Incidental Mutation

Incidental Mutation 'R7441:Spata20'

576966

Institutional Source

Beutler Lab

Gene Symbol

Spata20

Ensembl Gene

ENSMUSG00000020867

Gene Name

spermatogenesis associated 20

Synonyms

Tisp78

MMRRC Submission

045517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R7441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94369730-94376136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94374867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 245 (A245V)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

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

AlphaFold

Q80YT5

Predicted Effect

probably benign
Transcript: ENSMUST00000041705
AA Change: A245V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: A245V

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,845 (GRCm39)	S278A	possibly damaging	Het
Adamts20	T	C	15: 94,251,554 (GRCm39)	D411G	probably damaging	Het
Adgrl3	A	G	5: 81,871,987 (GRCm39)	I894V	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Anpep	A	G	7: 79,477,392 (GRCm39)	V725A	possibly damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arhgef2	A	G	3: 88,551,262 (GRCm39)	R808G	probably damaging	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bahcc1	T	C	11: 120,177,132 (GRCm39)	S2007P	probably damaging	Het
Cyfip2	A	T	11: 46,087,254 (GRCm39)	I1212N	possibly damaging	Het
Dnajc16	A	T	4: 141,491,124 (GRCm39)	D675E	probably damaging	Het
Dram2	T	C	3: 106,462,503 (GRCm39)	F4L	probably damaging	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Efhb	A	T	17: 53,708,549 (GRCm39)	I707N	possibly damaging	Het
Eif2ak4	A	G	2: 118,302,377 (GRCm39)	T1555A	probably benign	Het
Erc1	G	A	6: 119,801,912 (GRCm39)	T35I	possibly damaging	Het
Esr2	C	A	12: 76,188,168 (GRCm39)	M363I	probably benign	Het
Etl4	A	T	2: 20,749,000 (GRCm39)	N446I	possibly damaging	Het
Evpl	T	A	11: 116,113,782 (GRCm39)	K1303*	probably null	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fam186b	A	G	15: 99,177,970 (GRCm39)	L452P	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Gtf3c3	G	A	1: 54,459,607 (GRCm39)	T385M	probably benign	Het
Iqgap2	C	A	13: 95,764,584 (GRCm39)	M1553I	probably benign	Het
Kcnk1	G	T	8: 126,722,307 (GRCm39)	G37C	probably damaging	Het
Kifc3	T	C	8: 95,864,615 (GRCm39)	M32V	probably benign	Het
Krt81	C	A	15: 101,359,251 (GRCm39)	K222N	possibly damaging	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Mybbp1a	T	A	11: 72,342,101 (GRCm39)	V1279E	probably benign	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Or11g26	A	T	14: 50,752,853 (GRCm39)	Y64F	probably damaging	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pramel12	A	G	4: 143,145,410 (GRCm39)	Y293C	probably benign	Het
Ptpn18	T	C	1: 34,512,416 (GRCm39)	V407A	probably benign	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Scn11a	C	T	9: 119,587,692 (GRCm39)	V1351I	probably benign	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Timd5	G	A	11: 46,419,382 (GRCm39)	W66*	probably null	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Zfp426	T	C	9: 20,382,147 (GRCm39)	E280G	possibly damaging	Het
Zfp810	C	A	9: 22,190,568 (GRCm39)	E78*	probably null	Het
Zfp937	GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT	G	2: 150,080,630 (GRCm39)		probably null	Het

Other mutations in Spata20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Spata20	APN	11	94,369,943 (GRCm39)	missense	probably damaging	1.00
IGL01123:Spata20	APN	11	94,374,221 (GRCm39)	missense	probably benign
IGL02008:Spata20	APN	11	94,374,289 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Spata20	UTSW	11	94,375,434 (GRCm39)	missense	probably damaging	1.00
R0136:Spata20	UTSW	11	94,371,435 (GRCm39)	missense	probably damaging	1.00
R0243:Spata20	UTSW	11	94,372,472 (GRCm39)	missense	probably benign
R0557:Spata20	UTSW	11	94,376,048 (GRCm39)	missense	probably benign	0.00
R0657:Spata20	UTSW	11	94,371,435 (GRCm39)	missense	probably damaging	1.00
R1712:Spata20	UTSW	11	94,371,340 (GRCm39)	missense	probably benign
R2166:Spata20	UTSW	11	94,369,930 (GRCm39)	missense	probably benign	0.25
R4298:Spata20	UTSW	11	94,373,914 (GRCm39)	missense	probably damaging	0.99
R4740:Spata20	UTSW	11	94,375,404 (GRCm39)	missense	possibly damaging	0.94
R4791:Spata20	UTSW	11	94,375,412 (GRCm39)	missense	probably damaging	0.99
R4980:Spata20	UTSW	11	94,375,435 (GRCm39)	missense	probably damaging	1.00
R5894:Spata20	UTSW	11	94,374,444 (GRCm39)	missense	probably damaging	0.98
R6373:Spata20	UTSW	11	94,374,226 (GRCm39)	missense	probably benign
R7400:Spata20	UTSW	11	94,374,226 (GRCm39)	missense	probably benign
R7439:Spata20	UTSW	11	94,374,867 (GRCm39)	missense	probably benign	0.02
R7562:Spata20	UTSW	11	94,373,379 (GRCm39)	missense	probably benign	0.31
R7974:Spata20	UTSW	11	94,374,966 (GRCm39)	missense	possibly damaging	0.66
R8036:Spata20	UTSW	11	94,369,963 (GRCm39)	missense	probably benign	0.17
R8060:Spata20	UTSW	11	94,373,065 (GRCm39)	missense	probably benign
R8335:Spata20	UTSW	11	94,373,369 (GRCm39)	missense	probably benign	0.05
R8447:Spata20	UTSW	11	94,373,080 (GRCm39)	missense	probably damaging	1.00
R8676:Spata20	UTSW	11	94,372,607 (GRCm39)	missense	probably damaging	1.00
R9492:Spata20	UTSW	11	94,374,444 (GRCm39)	missense	probably damaging	0.98
Z1176:Spata20	UTSW	11	94,371,361 (GRCm39)	missense	probably benign	0.45
Z1177:Spata20	UTSW	11	94,373,965 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGAGTCAGAGGTCAGAATATCAGC -3'
(R):5'- TGCAGGTTGAGAGACCACAG -3'

Sequencing Primer
(F):5'- GGTCAGAATATCAGCCCACAGG -3'
(R):5'- GGTTGAGAGACCACAGCCACC -3'

Posted On

2019-10-07