Mutagenetix > Incidental Mutation

Incidental Mutation 'R4985:Tspyl1'

385836

Institutional Source

Beutler Lab

Gene Symbol

Tspyl1

Ensembl Gene

ENSMUSG00000047514

Gene Name

testis-specific protein, Y-encoded-like 1

Synonyms

MMRRC Submission

042579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34158186-34160881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34158334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 20 (D20N)

Ref Sequence

ENSEMBL: ENSMUSP00000063051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061372]

AlphaFold

O88852

Predicted Effect

probably benign
Transcript: ENSMUST00000061372
AA Change: D20N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000063051
Gene: ENSMUSG00000047514
AA Change: D20N

Domain	Start	End	E-Value	Type
Pfam:NAP	170	353	3.5e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921508M14Rik	A	T	12: 34,924,457 (GRCm39)		probably benign	Het
Actn4	A	G	7: 28,618,411 (GRCm39)	L83P	probably damaging	Het
Adgb	T	C	10: 10,276,376 (GRCm39)	R331G	possibly damaging	Het
Bmal1	T	C	7: 112,884,280 (GRCm39)	V106A	probably damaging	Het
Brf1	G	T	12: 112,932,990 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,820 (GRCm39)	T556I	probably damaging	Het
Cdkn2aip	G	T	8: 48,166,480 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,901,772 (GRCm39)	E399G	possibly damaging	Het
Col9a3	G	A	2: 180,245,193 (GRCm39)	R134H	unknown	Het
Ddb2	T	C	2: 91,042,643 (GRCm39)		probably null	Het
Dlg1	A	G	16: 31,606,953 (GRCm39)		probably null	Het
Dnah1	T	G	14: 31,008,855 (GRCm39)	E1973A	probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
E130308A19Rik	A	G	4: 59,691,017 (GRCm39)	T284A	probably benign	Het
Ecm1	C	T	3: 95,643,415 (GRCm39)	R295H	possibly damaging	Het
Efcab5	T	A	11: 77,029,055 (GRCm39)	H92L	probably damaging	Het
Egfr	C	A	11: 16,809,029 (GRCm39)	Y74*	probably null	Het
Fbxo10	T	C	4: 45,040,692 (GRCm39)	I838V	probably benign	Het
Gfod2	C	T	8: 106,454,643 (GRCm39)	R79Q	probably damaging	Het
Gm11568	C	A	11: 99,749,274 (GRCm39)	P160T	unknown	Het
Gm29106	A	T	1: 118,126,950 (GRCm39)	D214V	probably benign	Het
Htr3b	C	A	9: 48,847,241 (GRCm39)	V425F	possibly damaging	Het
Krt86	A	T	15: 101,375,146 (GRCm39)	E347V	probably damaging	Het
Lamc2	T	C	1: 153,012,551 (GRCm39)	I708V	probably benign	Het
Ldb2	T	A	5: 44,637,645 (GRCm39)	K221I	probably damaging	Het
Lmntd2	A	C	7: 140,793,190 (GRCm39)	S127R	probably benign	Het
Lrba	A	G	3: 86,234,743 (GRCm39)		probably null	Het
Mettl26	T	A	17: 26,095,750 (GRCm39)	*202R	probably null	Het
Mmp24	A	G	2: 155,656,016 (GRCm39)	K485E	probably damaging	Het
Nap1l1	T	C	10: 111,325,944 (GRCm39)	C88R	probably benign	Het
Or2d2	C	A	7: 106,728,234 (GRCm39)	R122L	probably damaging	Het
Or8b49	T	A	9: 38,505,658 (GRCm39)	I47N	possibly damaging	Het
Pafah1b1	T	G	11: 74,576,814 (GRCm39)	D159A	probably damaging	Het
Pcdhga7	T	C	18: 37,848,698 (GRCm39)	V235A	probably benign	Het
Pcf11	T	C	7: 92,311,110 (GRCm39)	T293A	probably benign	Het
Pidd1	A	C	7: 141,018,504 (GRCm39)	*916E	probably null	Het
Pip4k2c	T	C	10: 127,035,244 (GRCm39)	I375V	probably benign	Het
Pou3f2	A	T	4: 22,487,588 (GRCm39)	S182T	probably benign	Het
Rin3	A	T	12: 102,334,821 (GRCm39)	D164V	unknown	Het
Rnf8	T	C	17: 29,845,834 (GRCm39)	S199P	possibly damaging	Het
Serpina6	A	G	12: 103,620,195 (GRCm39)	S185P	probably benign	Het
Slc47a2	C	A	11: 61,193,059 (GRCm39)	V565L	probably benign	Het
Slfn4	T	A	11: 83,078,033 (GRCm39)	F274I	probably damaging	Het
Tgif1	T	C	17: 71,151,867 (GRCm39)	Y248C	probably benign	Het
Tlx1	C	A	19: 45,139,421 (GRCm39)	Q23K	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Vmn1r159	A	T	7: 22,542,959 (GRCm39)	F24L	probably damaging	Het
Vmn1r204	T	A	13: 22,741,230 (GRCm39)	V287D	probably damaging	Het
Zdhhc18	A	G	4: 133,340,228 (GRCm39)		probably null	Het
Zfp276	T	G	8: 123,994,646 (GRCm39)	V571G	probably damaging	Het

Other mutations in Tspyl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Tspyl1	APN	10	34,159,195 (GRCm39)	missense	possibly damaging	0.55
IGL01575:Tspyl1	APN	10	34,159,086 (GRCm39)	missense	probably damaging	1.00
IGL03018:Tspyl1	APN	10	34,159,112 (GRCm39)	missense	probably damaging	1.00
R0131:Tspyl1	UTSW	10	34,159,085 (GRCm39)	missense	probably damaging	1.00
R0131:Tspyl1	UTSW	10	34,159,085 (GRCm39)	missense	probably damaging	1.00
R0132:Tspyl1	UTSW	10	34,159,085 (GRCm39)	missense	probably damaging	1.00
R5366:Tspyl1	UTSW	10	34,158,341 (GRCm39)	missense	possibly damaging	0.88
R6752:Tspyl1	UTSW	10	34,158,583 (GRCm39)	missense	probably benign
R8882:Tspyl1	UTSW	10	34,158,494 (GRCm39)	missense	possibly damaging	0.49
R9644:Tspyl1	UTSW	10	34,159,135 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GTCACGAGCTGAAGAACCAATC -3'
(R):5'- CTCCACATATTTCGGTGTCACG -3'

Sequencing Primer
(F):5'- AGGTTCTCGCGAGACTTGC -3'
(R):5'- TGTCACGAACACCGCTG -3'

Posted On

2016-05-10