Mutagenetix > Incidental Mutation

Incidental Mutation 'R6933:Tspyl3'

540146

Institutional Source

Beutler Lab

Gene Symbol

Tspyl3

Ensembl Gene

ENSMUSG00000074671

Gene Name

TSPY-like 3

Synonyms

LOC241732

MMRRC Submission

045048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6933 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

153064290-153067361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153067203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 12 (T12A)

Ref Sequence

ENSEMBL: ENSMUSP00000096799 (fasta)

Gene Model

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

AlphaFold

Q3UYP3

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: T12A

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

SMART Domains

Protein: ENSMUSP00000096799
Gene: ENSMUSG00000074671
AA Change: T12A

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.7%

Validation Efficiency

93% (41/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	T	10: 69,740,042 (GRCm39)	K814N	probably damaging	Het
Anks1b	A	G	10: 89,905,352 (GRCm39)	H231R	probably damaging	Het
Anks6	A	G	4: 47,049,164 (GRCm39)	V247A	probably benign	Het
Antxrl	A	G	14: 33,797,728 (GRCm39)	N568D	possibly damaging	Het
Ccnl1	T	C	3: 65,855,373 (GRCm39)	T366A	probably benign	Het
Ccr2	T	G	9: 123,906,161 (GRCm39)	L147R	probably damaging	Het
Cdc40	A	G	10: 40,720,992 (GRCm39)	V318A	probably damaging	Het
Cfap61	T	A	2: 145,792,970 (GRCm39)		probably null	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Clk3	A	T	9: 57,669,132 (GRCm39)	Y31N	probably damaging	Het
Cmya5	T	C	13: 93,231,644 (GRCm39)	Y1148C	probably benign	Het
Cntnap5b	T	C	1: 100,311,175 (GRCm39)	V927A	probably benign	Het
Dync1i1	A	C	6: 5,913,333 (GRCm39)	T217P	probably damaging	Het
Elovl4	A	G	9: 83,667,153 (GRCm39)	V68A	probably damaging	Het
Ep400	C	A	5: 110,813,728 (GRCm39)	K2890N	probably damaging	Het
Fam114a2	T	C	11: 57,374,897 (GRCm39)	I481V	probably benign	Het
Fam83e	A	G	7: 45,371,818 (GRCm39)	T72A	probably benign	Het
Fnip2	A	T	3: 79,425,418 (GRCm39)	M59K	probably benign	Het
Lrpprc	T	C	17: 85,030,131 (GRCm39)	K1089R	probably benign	Het
Mndal	T	A	1: 173,703,249 (GRCm39)	E52V	probably damaging	Het
Myom1	C	A	17: 71,359,666 (GRCm39)	T446K	probably damaging	Het
Nbea	A	T	3: 55,631,031 (GRCm39)	F2199I	possibly damaging	Het
Nr1h2	A	T	7: 44,199,437 (GRCm39)	L438Q	probably damaging	Het
Or52n2c	A	G	7: 104,574,330 (GRCm39)	C214R	probably benign	Het
Pet117	T	A	2: 144,211,019 (GRCm39)	V13E	possibly damaging	Het
Pnpla8	A	G	12: 44,330,210 (GRCm39)	E254G	probably benign	Het
Polr2a	T	C	11: 69,627,003 (GRCm39)	E1485G	probably damaging	Het
Polr2a	C	T	11: 69,630,293 (GRCm39)	R1258Q	probably benign	Het
Ptpn4	T	C	1: 119,700,878 (GRCm39)		probably benign	Het
Rapgef2	A	T	3: 78,993,266 (GRCm39)	Y889N	probably damaging	Het
Sbf1	G	A	15: 89,184,572 (GRCm39)	R1115C	probably damaging	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,645,515 (GRCm39)	T366S	probably benign	Het
Slc22a23	T	C	13: 34,489,163 (GRCm39)	I241V	probably benign	Het
Sox11	G	T	12: 27,391,493 (GRCm39)	S305R	probably damaging	Het
Sox21	T	C	14: 118,472,725 (GRCm39)	H108R	possibly damaging	Het
Taok1	A	T	11: 77,446,479 (GRCm39)	S417T	probably benign	Het
Tg	C	T	15: 66,636,158 (GRCm39)	R582C	possibly damaging	Het
Traf3	T	C	12: 111,221,658 (GRCm39)	V273A	possibly damaging	Het
Vmn2r86	A	T	10: 130,282,126 (GRCm39)	I830N	probably damaging	Het
Vps26b	A	T	9: 26,926,613 (GRCm39)	F129I	possibly damaging	Het
Washc3	A	G	10: 88,037,714 (GRCm39)	N24S	probably damaging	Het
Xirp2	C	A	2: 67,345,201 (GRCm39)	Q2481K	probably benign	Het
Zfhx4	T	C	3: 5,478,047 (GRCm39)	V3554A	probably damaging	Het

Other mutations in Tspyl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
F5770:Tspyl3	UTSW	2	153,066,980 (GRCm39)	missense	probably benign	0.07
R0035:Tspyl3	UTSW	2	153,066,240 (GRCm39)	missense	probably damaging	1.00
R0866:Tspyl3	UTSW	2	153,066,854 (GRCm39)	missense	probably damaging	1.00
R1780:Tspyl3	UTSW	2	153,067,176 (GRCm39)	missense	probably damaging	0.97
R1930:Tspyl3	UTSW	2	153,066,717 (GRCm39)	missense	probably damaging	1.00
R3015:Tspyl3	UTSW	2	153,066,650 (GRCm39)	missense	probably damaging	1.00
R4296:Tspyl3	UTSW	2	153,067,076 (GRCm39)	missense	possibly damaging	0.96
R5913:Tspyl3	UTSW	2	153,066,636 (GRCm39)	missense	probably benign	0.17
V7580:Tspyl3	UTSW	2	153,066,980 (GRCm39)	missense	probably benign	0.07
V7581:Tspyl3	UTSW	2	153,066,980 (GRCm39)	missense	probably benign	0.07
V7583:Tspyl3	UTSW	2	153,066,980 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CAGCCATCCAGGTTCAGAAC -3'
(R):5'- CCAGTTCTGTTTGACTCAGGTG -3'

Sequencing Primer
(F):5'- ATCCAGGTTCAGAACGCGGG -3'
(R):5'- CAGTGGAGTGACTCTAGCAAGTC -3'

Posted On

2018-11-06