Mutagenetix > Incidental Mutations

Incidental Mutation 'R8459:Spata16'

655167

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R8459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26637620-26983212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26667527 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 66 (T66A)

Ref Sequence

ENSEMBL: ENSMUSP00000043378 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047005
AA Change: T66A

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

SMART Domains

Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: T66A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108305
AA Change: T66A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: T66A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	A	G	4: 58,821,379	V1207A	probably damaging	Het
Aim2	CTTGTTGT	CTTGT	1: 173,461,970		probably benign	Het
Ank1	T	C	8: 23,115,512	V1132A	probably damaging	Het
Bpifb9a	T	G	2: 154,260,233	S83R	probably damaging	Het
Cacnb3	C	T	15: 98,639,512	R24C	probably damaging	Het
Car8	C	T	4: 8,189,302	V171I	probably benign	Het
Cdk17	G	C	10: 93,232,427	V349L	probably damaging	Het
Celsr3	A	G	9: 108,829,630	E1104G	probably damaging	Het
Chml	T	C	1: 175,688,031	D108G	probably benign	Het
Cluap1	T	C	16: 3,937,589	M356T	probably damaging	Het
Cmtm1	A	G	8: 104,309,511	V162A	possibly damaging	Het
Cryge	T	C	1: 65,048,682	D156G	possibly damaging	Het
Disc1	A	C	8: 125,165,155	D649A	possibly damaging	Het
Dnah8	T	C	17: 30,725,247		probably null	Het
Dpp7	C	A	2: 25,352,538	V468F	probably damaging	Het
Ep400	A	G	5: 110,708,891	F1163S	unknown	Het
Fbrs	C	T	7: 127,483,157	R327W	probably damaging	Het
Fsip2	T	A	2: 82,979,678	Y2114N	possibly damaging	Het
Gm609	T	A	16: 45,417,908	H294L	probably benign	Het
Gm6205	A	G	5: 94,682,883	D80G	probably damaging	Het
Gnas	A	T	2: 174,284,939	H89L	probably benign	Het
Gstt1	G	A	10: 75,794,109	R107W	probably damaging	Het
Hal	A	G	10: 93,516,315	D656G	probably benign	Het
Htra3	G	A	5: 35,671,225		probably benign	Het
Ighv1-64	G	A	12: 115,507,636	A87V	probably benign	Het
Itga3	A	G	11: 95,068,807	V80A	probably benign	Het
Lrrc58	A	G	16: 37,878,510	N280D	probably benign	Het
Macf1	T	C	4: 123,480,314	E1501G	possibly damaging	Het
Madd	A	G	2: 91,162,526	I1016T	probably benign	Het
Mbnl1	T	G	3: 60,622,207	S260R	probably damaging	Het
Olfr183	A	T	16: 58,999,985	Q100L	probably damaging	Het
Phip	G	T	9: 82,876,053	A1529D	probably benign	Het
Prorsd1	T	C	11: 29,513,286	T159A	probably damaging	Het
Sh3tc1	C	A	5: 35,721,589	R67L	probably benign	Het
Skint5	A	T	4: 113,846,284	L518*	probably null	Het
Slc26a11	T	A	11: 119,368,817	I280N	possibly damaging	Het
Syne1	G	A	10: 5,424,277	R177*	probably null	Het
Vmn1r16	A	C	6: 57,323,362	C92G	probably benign	Het
Vmn1r50	A	G	6: 90,107,253		probably benign	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
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
R7936:Spata16	UTSW	3	26667423	missense	possibly damaging	0.71
R8015:Spata16	UTSW	3	26667659	missense	probably benign
R8060:Spata16	UTSW	3	26840720	missense	probably damaging	0.99
R8161:Spata16	UTSW	3	26840662	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TACGGGTGGACCAATGGATTC -3'
(R):5'- AGACCAGCTTCATTTCCACATC -3'

Sequencing Primer
(F):5'- TGGACCAATGGATTCTGGCAAG -3'
(R):5'- CATCCATTATGTTCTTTAAGGGGATG -3'

Posted On

2020-10-20