Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Spata16'

14200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata16

Ensembl Gene

ENSMUSG00000039335

Gene Name

spermatogenesis associated 16

Synonyms

spermatogenesis-related protein, 4921511F01Rik, 4930503K02Rik, Nyd-sp12

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

26637620-26983212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26924262 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 459 (E459V)

Ref Sequence

ENSEMBL: ENSMUSP00000103941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047005] [ENSMUST00000108305]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047005
AA Change: E459V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: E459V

Domain	Start	End	E-Value	Type
Pfam:NYD-SP12_N	5	569	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108305
AA Change: E459V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: E459V

Domain	Start	End	E-Value	Type
Pfam:NYD-SP12_N	1	534	N/A	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977		probably benign	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Gsg1	A	T	6: 135,244,092	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Spata16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Spata16	APN	3	26840722	missense	possibly damaging	0.93
IGL01129:Spata16	APN	3	26913184	splice site	probably benign
IGL01330:Spata16	APN	3	26914715	missense	probably damaging	0.99
IGL02033:Spata16	APN	3	26913334	critical splice donor site	probably null
IGL02069:Spata16	APN	3	26732795	nonsense	probably null
IGL02231:Spata16	APN	3	26913264	missense	probably damaging	1.00
R0084:Spata16	UTSW	3	26667410	missense	possibly damaging	0.95
R0109:Spata16	UTSW	3	26913267	missense	probably damaging	0.97
R0109:Spata16	UTSW	3	26913267	missense	probably damaging	0.97
R0325:Spata16	UTSW	3	26667456	missense	probably damaging	0.98
R0811:Spata16	UTSW	3	26913338	splice site	probably benign
R2061:Spata16	UTSW	3	26924370	missense	probably damaging	0.99
R3148:Spata16	UTSW	3	26878712	critical splice donor site	probably null
R4837:Spata16	UTSW	3	26732932	missense	possibly damaging	0.93
R4972:Spata16	UTSW	3	26840723	missense	possibly damaging	0.93
R5129:Spata16	UTSW	3	26667564	missense	probably damaging	0.98
R5235:Spata16	UTSW	3	26667632	missense	probably benign	0.00
R5458:Spata16	UTSW	3	26777537	missense	probably damaging	0.99
R6578:Spata16	UTSW	3	26667548	nonsense	probably null
R7069:Spata16	UTSW	3	26927334	missense	probably damaging	0.99
R7256:Spata16	UTSW	3	26667867	missense	probably benign	0.25
R8015:Spata16	UTSW	3	26667659	missense	not run
R8060:Spata16	UTSW	3	26840720	missense	not run

Posted On

2012-12-06