Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Tsga10'

275247

Institutional Source

Beutler Lab

Gene Symbol

Tsga10

Ensembl Gene

ENSMUSG00000060771

Gene Name

testis specific 10

Synonyms

4933432N21Rik, Mtsga10

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37754776-37866429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37834197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 200 (N200K)

Ref Sequence

ENSEMBL: ENSMUSP00000120554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041815] [ENSMUST00000088072] [ENSMUST00000114902] [ENSMUST00000123082] [ENSMUST00000151735] [ENSMUST00000155852] [ENSMUST00000193669]

AlphaFold

Q6NY15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041815
AA Change: N200K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048859
Gene: ENSMUSG00000060771
AA Change: N200K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	249	N/A	INTRINSIC
Blast:SPEC	294	391	5e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088072
AA Change: N200K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000085391
Gene: ENSMUSG00000060771
AA Change: N200K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	249	N/A	INTRINSIC
Blast:SPEC	294	391	5e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114902
AA Change: N200K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110552
Gene: ENSMUSG00000060771
AA Change: N200K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	249	N/A	INTRINSIC
Blast:SPEC	294	391	5e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123082

SMART Domains

Protein: ENSMUSP00000141261
Gene: ENSMUSG00000060771

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	157	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151735
AA Change: N200K

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120554
Gene: ENSMUSG00000060771
AA Change: N200K

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155852

SMART Domains

Protein: ENSMUSP00000141630
Gene: ENSMUSG00000060771

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	157	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193669

SMART Domains

Protein: ENSMUSP00000142218
Gene: ENSMUSG00000060771

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
coiled coil region	24	85	N/A	INTRINSIC
coiled coil region	110	157	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Tsga10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Tsga10	APN	1	37807070	missense	probably damaging	0.99
IGL00579:Tsga10	APN	1	37835453	missense	probably damaging	1.00
IGL00837:Tsga10	APN	1	37801911	splice site	probably benign
IGL01577:Tsga10	APN	1	37835457	missense	possibly damaging	0.85
IGL01727:Tsga10	APN	1	37835274	missense	probably damaging	1.00
IGL02037:Tsga10	APN	1	37807017	missense	probably benign	0.05
IGL02510:Tsga10	APN	1	37760985	missense	possibly damaging	0.89
R0346:Tsga10	UTSW	1	37840519	missense	possibly damaging	0.65
R0789:Tsga10	UTSW	1	37801787	missense	possibly damaging	0.87
R0961:Tsga10	UTSW	1	37761428	critical splice donor site	probably null
R1370:Tsga10	UTSW	1	37835453	missense	probably damaging	1.00
R1440:Tsga10	UTSW	1	37819599	missense	probably damaging	1.00
R1827:Tsga10	UTSW	1	37835580	missense	probably damaging	1.00
R2504:Tsga10	UTSW	1	37815677	missense	probably damaging	1.00
R3104:Tsga10	UTSW	1	37801791	missense	probably damaging	1.00
R3105:Tsga10	UTSW	1	37801791	missense	probably damaging	1.00
R3106:Tsga10	UTSW	1	37801791	missense	probably damaging	1.00
R3825:Tsga10	UTSW	1	37834197	missense	possibly damaging	0.73
R4560:Tsga10	UTSW	1	37807082	missense	probably benign	0.00
R4773:Tsga10	UTSW	1	37835525	missense	probably damaging	1.00
R4927:Tsga10	UTSW	1	37801850	missense	probably damaging	1.00
R5036:Tsga10	UTSW	1	37783968	missense	possibly damaging	0.65
R5326:Tsga10	UTSW	1	37761517	missense	probably damaging	1.00
R5345:Tsga10	UTSW	1	37763311	missense	probably damaging	1.00
R5503:Tsga10	UTSW	1	37760947	makesense	probably null
R5542:Tsga10	UTSW	1	37761517	missense	probably damaging	1.00
R5793:Tsga10	UTSW	1	37835459	missense	probably damaging	1.00
R6340:Tsga10	UTSW	1	37835185	intron	probably benign
R7096:Tsga10	UTSW	1	37840614	missense	probably damaging	0.98
R7130:Tsga10	UTSW	1	37783884	missense	probably damaging	1.00
R7401:Tsga10	UTSW	1	37834187	missense	probably null	1.00
R7609:Tsga10	UTSW	1	37804893	splice site	probably null
R7649:Tsga10	UTSW	1	37835148	missense	unknown
R7773:Tsga10	UTSW	1	37835242	missense	unknown
R8242:Tsga10	UTSW	1	37807101	missense	probably benign	0.28
R8379:Tsga10	UTSW	1	37801878	missense	probably benign	0.00
R9205:Tsga10	UTSW	1	37841278	start gained	probably benign
R9252:Tsga10	UTSW	1	37834283	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- ATCTCAGTTTTCAGAGGGCTG -3'
(R):5'- AGGCTGCACACTGATGGTAG -3'

Sequencing Primer
(F):5'- CAGTTTTCAGAGGGCTGTATAAAAAC -3'
(R):5'- CTGCACACTGATGGTAGCTAACTG -3'

Posted On

2015-04-02