Mutagenetix > Incidental Mutations

Incidental Mutation 'R0109:Spata16'

64190

Institutional Source

Beutler Lab

Gene Symbol

Spata16

Ensembl Gene

ENSMUSG00000039335

Gene Name

spermatogenesis associated 16

Synonyms

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

MMRRC Submission

038395-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0109 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

26637620-26983212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26913267 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 389 (F389I)

Ref Sequence

ENSEMBL: ENSMUSP00000103941 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000047005
AA Change: F389I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: F389I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108305
AA Change: F389I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: F389I

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

Meta Mutation Damage Score

0.1354

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,318,762	K1496*	probably null	Het
Anapc1	C	A	2: 128,634,693	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,578,294	S203T	probably benign	Het
Astn1	C	T	1: 158,664,104	T41I	possibly damaging	Het
Avil	A	G	10: 127,013,644	N603S	probably benign	Het
Brca1	T	C	11: 101,531,090	D149G	possibly damaging	Het
Col19a1	A	C	1: 24,559,768		probably null	Het
Cps1	T	C	1: 67,229,418	V1435A	possibly damaging	Het
Cyp2j6	A	T	4: 96,518,157	I459N	probably damaging	Het
Cyth1	T	C	11: 118,182,306	E242G	probably damaging	Het
Dclk3	T	G	9: 111,467,670	L94R	possibly damaging	Het
Dsg3	T	C	18: 20,540,134	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487	D309V	probably damaging	Het
Efhd2	A	G	4: 141,874,567	F101L	probably benign	Het
Fgd5	T	A	6: 91,988,235	M325K	possibly damaging	Het
Fras1	T	C	5: 96,710,077	S2077P	probably benign	Het
Frmpd1	A	T	4: 45,279,340	E688D	probably benign	Het
Hspg2	T	C	4: 137,562,201	V3824A	probably benign	Het
Kctd16	A	G	18: 40,259,151	E264G	probably benign	Het
Mapk15	A	T	15: 75,996,077	K153*	probably null	Het
Miox	G	A	15: 89,335,581	V91I	probably benign	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Olfr1241	A	G	2: 89,482,803	F111L	probably benign	Het
Olfr1442	C	A	19: 12,674,860	F218L	probably benign	Het
Olfr646	T	C	7: 104,106,605	S109P	probably damaging	Het
Parp9	T	C	16: 35,948,341	I64T	probably damaging	Het
Pfkfb4	T	C	9: 108,998,889	V43A	probably benign	Het
Pgap1	A	T	1: 54,494,825	V643E	probably damaging	Het
Pip5k1b	T	A	19: 24,379,047	M176L	probably benign	Het
Ppfia4	A	T	1: 134,324,217		probably null	Het
Prdx2	G	A	8: 84,970,251	G4S	probably benign	Het
Rin3	A	G	12: 102,313,081	I50V	possibly damaging	Het
Rtl1	G	A	12: 109,595,407		probably benign	Het
Sgsm3	G	C	15: 81,009,466	D434H	probably damaging	Het
Shank2	T	C	7: 144,410,577	S634P	possibly damaging	Het
Sik2	A	G	9: 50,899,475	M447T	possibly damaging	Het
Sla2	A	G	2: 156,883,587		probably null	Het
Srebf1	G	A	11: 60,201,804	A793V	probably benign	Het
Tmed11	T	A	5: 108,777,412	D178V	probably damaging	Het
Traf7	A	G	17: 24,513,926	F110L	probably benign	Het
Ttn	T	A	2: 76,725,564	I30366F	probably damaging	Het
Ubqlnl	C	T	7: 104,150,192	V33M	probably damaging	Het
Vmn1r194	A	G	13: 22,245,047	Y278C	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r114	A	T	17: 23,310,575	Y184*	probably null	Het
Vmn2r53	C	T	7: 12,582,066	A609T	probably damaging	Het
Vps13b	A	G	15: 35,572,119	T961A	probably benign	Het
Xirp2	T	A	2: 67,519,278	N3272K	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp454	T	A	11: 50,883,775	T24S	possibly damaging	Het

Other mutations in Spata16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Spata16	APN	3	26924262	missense	probably damaging	0.98
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
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	probably benign
R8060:Spata16	UTSW	3	26840720	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCTAAACTGGAGGAGGGACCTG -3'
(R):5'- CCCTAAAGCCTGCTGTATTGTCAATGG -3'

Sequencing Primer
(F):5'- GGGACCTGAAAATGATAAACCTG -3'
(R):5'- TTCCCATCACCTGTGTAGGT -3'

Posted On

2013-08-06