Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Tsga10'

422534

Institutional Source

Beutler Lab

Gene Symbol

Tsga10

Ensembl Gene

ENSMUSG00000060771

Gene Name

testis specific 10

Synonyms

Mtsga10, 4933432N21Rik

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37793857-37905510 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37802392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 605 (K605E)

Ref Sequence

ENSEMBL: ENSMUSP00000110552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041815] [ENSMUST00000088072] [ENSMUST00000114902]

AlphaFold

Q6NY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000041815
AA Change: K605E

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

SMART Domains

Protein: ENSMUSP00000048859
Gene: ENSMUSG00000060771
AA Change: K605E

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: K535E

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085391
Gene: ENSMUSG00000060771
AA Change: K535E

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 damaging
Transcript: ENSMUST00000114902
AA Change: K605E

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

SMART Domains

Protein: ENSMUSP00000110552
Gene: ENSMUSG00000060771
AA Change: K605E

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

Meta Mutation Damage Score

0.0955

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cspg5	A	T	9: 110,075,698 (GRCm39)	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
Or5aq1b	A	G	2: 86,901,836 (GRCm39)	V214A	possibly damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Park7	A	G	4: 150,992,880 (GRCm39)		probably benign	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,685,831 (GRCm39)	H720L	probably benign	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Ripply2	A	G	9: 86,901,779 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,808,466 (GRCm39)	L81P	probably damaging	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	probably benign	Het

Other mutations in Tsga10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Tsga10	APN	1	37,846,151 (GRCm39)	missense	probably damaging	0.99
IGL00579:Tsga10	APN	1	37,874,534 (GRCm39)	missense	probably damaging	1.00
IGL00837:Tsga10	APN	1	37,840,992 (GRCm39)	splice site	probably benign
IGL01577:Tsga10	APN	1	37,874,538 (GRCm39)	missense	possibly damaging	0.85
IGL01727:Tsga10	APN	1	37,874,355 (GRCm39)	missense	probably damaging	1.00
IGL02037:Tsga10	APN	1	37,846,098 (GRCm39)	missense	probably benign	0.05
IGL02510:Tsga10	APN	1	37,800,066 (GRCm39)	missense	possibly damaging	0.89
R0346:Tsga10	UTSW	1	37,879,600 (GRCm39)	missense	possibly damaging	0.65
R0789:Tsga10	UTSW	1	37,840,868 (GRCm39)	missense	possibly damaging	0.87
R0961:Tsga10	UTSW	1	37,800,509 (GRCm39)	critical splice donor site	probably null
R1370:Tsga10	UTSW	1	37,874,534 (GRCm39)	missense	probably damaging	1.00
R1440:Tsga10	UTSW	1	37,858,680 (GRCm39)	missense	probably damaging	1.00
R1827:Tsga10	UTSW	1	37,874,661 (GRCm39)	missense	probably damaging	1.00
R2504:Tsga10	UTSW	1	37,854,758 (GRCm39)	missense	probably damaging	1.00
R3104:Tsga10	UTSW	1	37,840,872 (GRCm39)	missense	probably damaging	1.00
R3105:Tsga10	UTSW	1	37,840,872 (GRCm39)	missense	probably damaging	1.00
R3106:Tsga10	UTSW	1	37,840,872 (GRCm39)	missense	probably damaging	1.00
R3824:Tsga10	UTSW	1	37,873,278 (GRCm39)	missense	possibly damaging	0.73
R3825:Tsga10	UTSW	1	37,873,278 (GRCm39)	missense	possibly damaging	0.73
R4560:Tsga10	UTSW	1	37,846,163 (GRCm39)	missense	probably benign	0.00
R4773:Tsga10	UTSW	1	37,874,606 (GRCm39)	missense	probably damaging	1.00
R4927:Tsga10	UTSW	1	37,840,931 (GRCm39)	missense	probably damaging	1.00
R5036:Tsga10	UTSW	1	37,823,049 (GRCm39)	missense	possibly damaging	0.65
R5326:Tsga10	UTSW	1	37,800,598 (GRCm39)	missense	probably damaging	1.00
R5503:Tsga10	UTSW	1	37,800,028 (GRCm39)	makesense	probably null
R5542:Tsga10	UTSW	1	37,800,598 (GRCm39)	missense	probably damaging	1.00
R5793:Tsga10	UTSW	1	37,874,540 (GRCm39)	missense	probably damaging	1.00
R6340:Tsga10	UTSW	1	37,874,266 (GRCm39)	intron	probably benign
R7096:Tsga10	UTSW	1	37,879,695 (GRCm39)	missense	probably damaging	0.98
R7130:Tsga10	UTSW	1	37,822,965 (GRCm39)	missense	probably damaging	1.00
R7401:Tsga10	UTSW	1	37,873,268 (GRCm39)	missense	probably null	1.00
R7609:Tsga10	UTSW	1	37,843,974 (GRCm39)	splice site	probably null
R7649:Tsga10	UTSW	1	37,874,229 (GRCm39)	missense	unknown
R7773:Tsga10	UTSW	1	37,874,323 (GRCm39)	missense	unknown
R8242:Tsga10	UTSW	1	37,846,182 (GRCm39)	missense	probably benign	0.28
R8379:Tsga10	UTSW	1	37,840,959 (GRCm39)	missense	probably benign	0.00
R9205:Tsga10	UTSW	1	37,880,359 (GRCm39)	start gained	probably benign
R9252:Tsga10	UTSW	1	37,873,364 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- ACAACTGGCAGAGATTGTGAC -3'
(R):5'- AAGCATGGCTGTCTTCCTTC -3'

Sequencing Primer
(F):5'- CTGGCAGAGATTGTGACATTTAAG -3'
(R):5'- ACTCAGCGCGCTCTGAAATTG -3'

Posted On

2016-08-04