Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Tsga10'

380880

Institutional Source

Beutler Lab

Gene Symbol

Tsga10

Ensembl Gene

ENSMUSG00000060771

Gene Name

testis specific 10

Synonyms

Mtsga10, 4933432N21Rik

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

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

Stock #

R4927 (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 37840931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 425 (E425G)

Ref Sequence

ENSEMBL: ENSMUSP00000110552 (fasta)

Gene Model

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

AlphaFold

Q6NY15

Predicted Effect

probably damaging
Transcript: ENSMUST00000041815
AA Change: E425G

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

SMART Domains

Protein: ENSMUSP00000048859
Gene: ENSMUSG00000060771
AA Change: E425G

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: ENSMUST00000088072
AA Change: E425G

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

SMART Domains

Protein: ENSMUSP00000085391
Gene: ENSMUSG00000060771
AA Change: E425G

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: E425G

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

SMART Domains

Protein: ENSMUSP00000110552
Gene: ENSMUSG00000060771
AA Change: E425G

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: ENSMUST00000151735

SMART Domains

Protein: ENSMUSP00000120554
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	229	N/A	INTRINSIC

Meta Mutation Damage Score

0.1172

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	probably damaging	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
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
R5345:Tsga10	UTSW	1	37,802,392 (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'- TATGTTGAGCCAAGCCAAGC -3'
(R):5'- CCATCTTTCTAGGCTAAGGGG -3'

Sequencing Primer
(F):5'- GCTCACTTAGTATGACACGTGAGAC -3'
(R):5'- CTAGGCTAAGGGGTTAGTAGGATTTC -3'

Posted On

2016-04-15