Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Spata20'

183261

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?

Possibly non essential (E-score: 0.286) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

94478904-94486179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94483463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 327 (D327V)

Ref Sequence

ENSEMBL: ENSMUSP00000042572 (fasta)

Gene Model

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

AlphaFold

Q80YT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041705
AA Change: D327V

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

SMART Domains

Protein: ENSMUSP00000042572
Gene: ENSMUSG00000020867
AA Change: D327V

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,176,101	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750		probably benign	Het
Abcf1	T	C	17: 35,962,062	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695		probably benign	Het
Atr	T	A	9: 95,881,420		probably benign	Het
Bdp1	A	G	13: 100,023,827	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,560,966	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924	S218G	probably null	Het
Cand2	T	C	6: 115,803,638	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,580,960	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920	M794T	probably damaging	Het
F11	G	T	8: 45,250,095	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685	P535L	probably benign	Het
Hspa9	G	A	18: 34,947,975	R218*	probably null	Het
Ikbip	G	A	10: 91,093,257		probably null	Het
Kcnb2	C	T	1: 15,710,809	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,978,279	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,570,957	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,385,151	S334R	probably benign	Het
Notch2	A	T	3: 98,147,296	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278		probably null	Het
Pcyox1	A	G	6: 86,392,268	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309		probably benign	Het
Rom1	T	A	19: 8,928,004	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140	I393V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232		probably benign	Het
Zmiz1	A	G	14: 25,656,879	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369	E358G	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
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
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

Posted On

2014-05-07