Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:Spata20'

52339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata20

Ensembl Gene

ENSMUSG00000020867

Gene Name

spermatogenesis associated 20

Synonyms

Tisp78

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

94369730-94376136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94374221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 350 (T350A)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

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

AlphaFold

Q80YT5

Predicted Effect

probably benign
Transcript: ENSMUST00000041705
AA Change: T350A

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

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: T350A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151707

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,849,934 (GRCm39)	D167E	probably damaging	Het
Aadat	A	T	8: 60,979,648 (GRCm39)	E170V	probably benign	Het
Acsf2	T	C	11: 94,461,276 (GRCm39)	E300G	probably benign	Het
Agbl3	C	T	6: 34,823,911 (GRCm39)	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,665,118 (GRCm39)		probably benign	Het
Arhgef40	C	A	14: 52,231,803 (GRCm39)	Q730K	probably damaging	Het
Armc3	C	T	2: 19,206,616 (GRCm39)	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,786,490 (GRCm39)	T233S	probably benign	Het
Bnc1	G	A	7: 81,623,455 (GRCm39)	Q591*	probably null	Het
Bsn	A	T	9: 107,993,185 (GRCm39)	F856I	probably damaging	Het
CK137956	T	A	4: 127,829,643 (GRCm39)	T558S	probably benign	Het
Coq8b	G	A	7: 26,939,509 (GRCm39)	V180I	probably damaging	Het
Csmd1	A	T	8: 17,584,944 (GRCm39)	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,496,152 (GRCm39)	S769P	possibly damaging	Het
Diras1	T	A	10: 80,858,249 (GRCm39)	M1L	probably damaging	Het
Fam161b	A	G	12: 84,404,438 (GRCm39)	W81R	probably benign	Het
Fat4	A	T	3: 39,011,418 (GRCm39)	I2173L	probably benign	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Gabrq	G	A	X: 71,880,439 (GRCm39)	D311N	probably benign	Het
Isl2	G	T	9: 55,452,746 (GRCm39)	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,666,052 (GRCm39)	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,735,029 (GRCm39)	M5378V	unknown	Het
Lrrc23	G	T	6: 124,755,782 (GRCm39)	D75E	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Matn1	T	C	4: 130,677,322 (GRCm39)	I177T	possibly damaging	Het
Mtor	T	C	4: 148,537,494 (GRCm39)	S60P	probably benign	Het
Naip6	T	C	13: 100,440,946 (GRCm39)	E278G	probably benign	Het
Nsun6	T	C	2: 15,053,789 (GRCm39)	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,887,076 (GRCm39)	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627 (GRCm39)	Q188*	probably null	Het
Pom121	A	T	5: 135,420,560 (GRCm39)	V287D	unknown	Het
Ptprq	A	T	10: 107,522,079 (GRCm39)	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,024,222 (GRCm39)	T178A	probably benign	Het
Pygm	A	G	19: 6,441,424 (GRCm39)	N473S	probably benign	Het
Ros1	A	T	10: 51,996,905 (GRCm39)	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,832,154 (GRCm39)	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,660,265 (GRCm39)	S6P	possibly damaging	Het
Sgca	T	A	11: 94,863,113 (GRCm39)	Q80L	probably damaging	Het
Skint6	A	G	4: 112,661,879 (GRCm39)	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 131,898,736 (GRCm39)	N600K	probably benign	Het
Syne1	G	T	10: 5,294,921 (GRCm39)	Y1227*	probably null	Het
Unc13c	T	C	9: 73,840,479 (GRCm39)	Y124C	probably benign	Het
Usp40	G	A	1: 87,913,845 (GRCm39)	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,579,571 (GRCm39)	W116R	probably benign	Het
Vps4a	T	C	8: 107,765,851 (GRCm39)		probably benign	Het
Zfyve16	A	G	13: 92,629,030 (GRCm39)	V1469A	probably damaging	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
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
R7441: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

Posted On

2013-06-21