Mutagenetix > Incidental Mutations

Incidental Mutation 'R7936:Spata16'

648718

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 #

R7936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26637620-26983212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26667423 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 31 (M31K)

Ref Sequence

ENSEMBL: ENSMUSP00000043378 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047005
AA Change: M31K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043378
Gene: ENSMUSG00000039335
AA Change: M31K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108305
AA Change: M31K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103941
Gene: ENSMUSG00000039335
AA Change: M31K

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: 98.9%

Validation Efficiency

100% (64/64)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,923,464	L438*	probably null	Het
Adamts18	T	A	8: 113,767,128	I460F	probably damaging	Het
Api5	C	T	2: 94,438,047		probably benign	Het
Arap2	A	G	5: 62,730,705	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,205,287	Y371H	probably damaging	Het
Asf1b	T	C	8: 83,969,219	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,524,127	N696S	probably damaging	Het
Carns1	A	C	19: 4,166,153	S677A	probably benign	Het
Cd276	G	A	9: 58,540,830		probably benign	Het
Cdk8	T	A	5: 146,299,834	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chsy3	A	G	18: 59,409,346	I519V	probably damaging	Het
Chtop	T	C	3: 90,507,351		probably benign	Het
Clstn3	T	A	6: 124,432,013	D892V	possibly damaging	Het
Col16a1	A	T	4: 130,096,871		probably null	Het
Dnah5	A	G	15: 28,345,837	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,558,158	D734A	probably damaging	Het
Dusp2	T	A	2: 127,336,892	Y172*	probably null	Het
Eml4	G	A	17: 83,473,686	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,310,167	M694L	probably benign	Het
Fat2	C	A	11: 55,311,160	E363*	probably null	Het
Gdpgp1	A	G	7: 80,239,078	I286V	probably damaging	Het
Gm11639	A	G	11: 104,999,698	N4202S	possibly damaging	Het
Gm11639	G	A	11: 105,046,559		probably null	Het
Gps1	T	A	11: 120,786,373	V166E	probably damaging	Het
H60b	T	A	10: 22,286,156	N93K	probably benign	Het
Imp4	C	T	1: 34,443,033	T79I	probably benign	Het
Kank3	A	G	17: 33,818,867	S485G	probably benign	Het
Kcnv2	A	G	19: 27,322,767	N6S	probably benign	Het
Krba1	A	T	6: 48,411,669	Q534L	probably damaging	Het
Lgr4	A	G	2: 110,006,518	N399S	probably damaging	Het
Lgr5	A	G	10: 115,453,047	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,320,433	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Mboat2	C	T	12: 24,955,393	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,505,924	I73S	probably damaging	Het
Myh7	T	A	14: 54,979,463	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,341,046	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,335,873	S88P	possibly damaging	Het
Obscn	T	C	11: 59,050,508	T4496A	possibly damaging	Het
Olfr1351	T	A	10: 79,018,038	F239I	probably damaging	Het
Olfr61	T	C	7: 140,637,739	F13L	probably damaging	Het
Papd5	G	A	8: 88,252,285	G505R	probably null	Het
Pdxk	G	T	10: 78,441,178	A262D	possibly damaging	Het
Pebp4	T	A	14: 69,851,633	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,328,543	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,076,502	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,697,400	N85K	unknown	Het
Ppm1m	C	A	9: 106,197,945	A134S	probably damaging	Het
Prdm11	A	T	2: 92,975,761	S281R	possibly damaging	Het
Prdm2	C	A	4: 143,135,864	L285F	probably damaging	Het
Ptchd3	C	T	11: 121,831,113	R271*	probably null	Het
Ptprq	A	C	10: 107,652,711	V955G	probably damaging	Het
Pygb	A	T	2: 150,815,669	M351L	probably benign	Het
Rcl1	G	A	19: 29,118,405		probably null	Het
Sgip1	A	T	4: 102,928,900	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,869,389	N367S	probably damaging	Het
Sox6	A	G	7: 115,544,595	V437A	probably benign	Het
Stab1	C	A	14: 31,157,415	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,465,754	G752R	probably damaging	Het
Tes3-ps	C	T	13: 49,493,984	A112V	probably benign	Het
Tnfrsf19	T	C	14: 60,970,933	T380A	probably benign	Het
Trim75	C	T	8: 64,982,538	G420E	probably damaging	Het
Txlnb	A	G	10: 17,827,964	D290G	probably benign	Het
Unc5c	T	A	3: 141,828,477	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 20,993,975	R238*	probably null	Het
Vmn2r113	A	G	17: 22,957,943	E567G	probably benign	Het
Vmn2r97	T	A	17: 18,930,400	I503K	probably damaging	Het
Wdr62	A	G	7: 30,265,159	W387R	probably damaging	Het
Zfp36l2	A	T	17: 84,187,662	D11E	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
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
R8459:Spata16	UTSW	3	26667527	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGTGTTCTGCATGATAGC -3'
(R):5'- GTCAGCCTTCCGTTTAAGGG -3'

Sequencing Primer
(F):5'- CTGACTATTGGCTAAAACAACTGGG -3'
(R):5'- TTCCGTTTAAGGGCCACC -3'

Posted On

2020-09-15