Mutagenetix > Incidental Mutations

Incidental Mutation 'V7583:Tspyl3'

152634

Institutional Source

Beutler Lab

Gene Symbol

Tspyl3

Ensembl Gene

ENSMUSG00000074671

Gene Name

TSPY-like 3

Synonyms

LOC241732

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153222370-153225441 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153225060 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000096799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056924] [ENSMUST00000099194] [ENSMUST00000109795]

Predicted Effect

probably benign
Transcript: ENSMUST00000056924

SMART Domains

Protein: ENSMUSP00000055709
Gene: ENSMUSG00000051413

Domain	Start	End	E-Value	Type
ZnF_C2H2	68	92	5.99e-4	SMART
ZnF_C2H2	98	120	1.03e-2	SMART
ZnF_C2H2	127	149	1.36e-2	SMART
ZnF_C2H2	156	178	6.23e-2	SMART
ZnF_C2H2	191	213	1.26e-2	SMART
ZnF_C2H2	219	242	3.11e-2	SMART
low complexity region	324	340	N/A	INTRINSIC
low complexity region	369	397	N/A	INTRINSIC
low complexity region	417	432	N/A	INTRINSIC
low complexity region	443	458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099194
AA Change: V86A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096799
Gene: ENSMUSG00000074671
AA Change: V86A

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
Pfam:NAP	160	307	2.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109795

SMART Domains

Protein: ENSMUSP00000105419
Gene: ENSMUSG00000051413

Domain	Start	End	E-Value	Type
ZnF_C2H2	68	92	5.99e-4	SMART
ZnF_C2H2	98	120	1.03e-2	SMART
ZnF_C2H2	127	149	1.36e-2	SMART
ZnF_C2H2	156	178	6.23e-2	SMART
ZnF_C2H2	191	213	1.26e-2	SMART
ZnF_C2H2	219	242	3.11e-2	SMART
low complexity region	324	340	N/A	INTRINSIC
low complexity region	369	397	N/A	INTRINSIC
low complexity region	417	432	N/A	INTRINSIC
low complexity region	443	458	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Tspyl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
F5770:Tspyl3	UTSW	2	153225060	missense	probably benign	0.07
R0035:Tspyl3	UTSW	2	153224320	missense	probably damaging	1.00
R0866:Tspyl3	UTSW	2	153224934	missense	probably damaging	1.00
R1780:Tspyl3	UTSW	2	153225256	missense	probably damaging	0.97
R1930:Tspyl3	UTSW	2	153224797	missense	probably damaging	1.00
R3015:Tspyl3	UTSW	2	153224730	missense	probably damaging	1.00
R4296:Tspyl3	UTSW	2	153225156	missense	possibly damaging	0.96
R5913:Tspyl3	UTSW	2	153224716	missense	probably benign	0.17
R6933:Tspyl3	UTSW	2	153225283	missense	probably benign
V7580:Tspyl3	UTSW	2	153225060	missense	probably benign	0.07
V7581:Tspyl3	UTSW	2	153225060	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGCGAGTAGCAATGGACACCAC -3'
(R):5'- ATACAAGAGCGGGATGCACACC -3'

Sequencing Primer
(F):5'- AGGTAGCCAAGCATGTCTTC -3'
(R):5'- CGCCTTCCTCAGAAAACACT -3'

Posted On

2014-01-29