Mutagenetix > Incidental Mutation

Incidental Mutation 'R3015:Tspyl3'

257626

Institutional Source

Beutler Lab

Gene Symbol

Tspyl3

Ensembl Gene

ENSMUSG00000074671

Gene Name

TSPY-like 3

Synonyms

LOC241732

MMRRC Submission

040536-MU

Accession Numbers

Essential gene?

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

Stock #

R3015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153064290-153067361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153066650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 196 (M196K)

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 damaging
Transcript: ENSMUST00000099194
AA Change: M196K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096799
Gene: ENSMUSG00000074671
AA Change: M196K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,849,913 (GRCm39)	H380R	probably benign	Het
Aff3	A	T	1: 38,249,649 (GRCm39)	I486N	probably benign	Het
Bltp1	T	A	3: 36,929,611 (GRCm39)	F76Y	probably damaging	Het
Cfap44	A	C	16: 44,230,832 (GRCm39)	D271A	probably benign	Het
Dbndd2	T	A	2: 164,330,270 (GRCm39)	V34D	probably damaging	Het
Erc2	T	A	14: 27,733,732 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,774,838 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,417,402 (GRCm39)	S2036P	probably damaging	Het
Golph3l	A	G	3: 95,499,024 (GRCm39)		probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ifrd2	G	A	9: 107,467,221 (GRCm39)	G60S	probably null	Het
Ints9	T	A	14: 65,187,727 (GRCm39)	W3R	probably benign	Het
Jmjd1c	A	G	10: 66,993,711 (GRCm39)	E64G	probably damaging	Het
Katnip	T	A	7: 125,465,512 (GRCm39)	H1321Q	probably damaging	Het
Matn3	A	C	12: 9,002,217 (GRCm39)	Q143P	probably damaging	Het
Myo18a	A	T	11: 77,749,846 (GRCm39)		probably benign	Het
Nop9	T	C	14: 55,988,631 (GRCm39)	S358P	probably benign	Het
Pard3b	T	C	1: 62,384,037 (GRCm39)	S801P	probably damaging	Het
Pax2	T	C	19: 44,804,463 (GRCm39)	F268L	probably damaging	Het
Pik3r1	A	G	13: 101,823,771 (GRCm39)	I538T	probably damaging	Het
Plekha8	T	C	6: 54,599,107 (GRCm39)	S214P	probably benign	Het
Ppme1	T	C	7: 99,981,084 (GRCm39)	H352R	probably damaging	Het
Ppp1r26	A	C	2: 28,342,314 (GRCm39)	D648A	probably damaging	Het
Prom1	C	A	5: 44,191,733 (GRCm39)	V337F	probably damaging	Het
Rapgef4	T	C	2: 72,028,717 (GRCm39)	I378T	probably damaging	Het
Rnf115	T	C	3: 96,661,675 (GRCm39)	S43P	probably damaging	Het
Rnf216	A	G	5: 143,061,480 (GRCm39)		probably null	Het
Scn7a	G	T	2: 66,530,240 (GRCm39)	Q702K	probably benign	Het
Shisal2b	T	A	13: 104,994,899 (GRCm39)	I83F	possibly damaging	Het
Slc2a1	T	A	4: 118,989,340 (GRCm39)	N13K	probably damaging	Het
Tnr	A	G	1: 159,715,829 (GRCm39)	I864V	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Umod	T	C	7: 119,071,763 (GRCm39)	D326G	probably damaging	Het
Upf2	A	G	2: 5,980,890 (GRCm39)	D492G	unknown	Het
Vash1	A	G	12: 86,732,194 (GRCm39)	T126A	probably benign	Het
Vsig10l	T	A	7: 43,116,881 (GRCm39)	I574K	possibly 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
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
R6933:Tspyl3	UTSW	2	153,067,203 (GRCm39)	missense	probably benign
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'- TTCTAGGAGGCTATGCTGTGAAAAC -3'
(R):5'- GAGTTAGAGGCCATGAGTGC -3'

Sequencing Primer
(F):5'- GAAGAAGCTTCGCACGGCATC -3'
(R):5'- ATGAGTGCCCAGGCGGATG -3'

Posted On

2015-01-11