Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Tspyl1'

68295

Institutional Source

Beutler Lab

Gene Symbol

Tspyl1

Ensembl Gene

ENSMUSG00000047514

Gene Name

testis-specific protein, Y-encoded-like 1

Synonyms

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

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

Stock #

R0131 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

34158186-34160881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34159085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 270 (N270S)

Ref Sequence

ENSEMBL: ENSMUSP00000063051 (fasta)

Gene Model

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

AlphaFold

O88852

Predicted Effect

probably damaging
Transcript: ENSMUST00000061372
AA Change: N270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063051
Gene: ENSMUSG00000047514
AA Change: N270S

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

Meta Mutation Damage Score

0.9199

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fat2	A	T	11: 55,164,037 (GRCm39)	S3073T	probably benign	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Gm16069	T	C	3: 89,088,232 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kif3a	A	G	11: 53,477,743 (GRCm39)	K404R	possibly damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pkp2	T	C	16: 16,058,577 (GRCm39)		probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,751 (GRCm39)	I73T	probably benign	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc3	T	C	10: 94,381,437 (GRCm39)		probably benign	Het
Tmem116	A	G	5: 121,631,845 (GRCm39)		probably benign	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tusc1	A	T	4: 93,223,070 (GRCm39)	H196Q	probably benign	Het
Ugt2a1	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zfp879	C	A	11: 50,724,426 (GRCm39)	G210V	probably damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	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
R0132:Tspyl1	UTSW	10	34,159,085 (GRCm39)	missense	probably damaging	1.00
R4985:Tspyl1	UTSW	10	34,158,334 (GRCm39)	missense	probably benign	0.03
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'- TATCCCAGGCTTCTGGATGACTGC -3'
(R):5'- GGTCTACGGATTCCTTCACGACAC -3'

Sequencing Primer
(F):5'- CTTCTGGATGACTGCCTTCC -3'
(R):5'- GGATTCCTTCACGACACAGGTAG -3'

Posted On

2013-09-03