Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01373:Tdrd9'

278485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

111971559-112068854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112040434 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 911 (V911M)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079009]

Predicted Effect

probably damaging
Transcript: ENSMUST00000079009
AA Change: V911M

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

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: V911M

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
DEXDc	132	327	5.64e-21	SMART
HELICc	404	502	3.22e-16	SMART
low complexity region	547	561	N/A	INTRINSIC
HA2	565	666	1.9e-20	SMART
TUDOR	944	1003	1.52e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191808

Predicted Effect

probably benign
Transcript: ENSMUST00000192125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193586

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male homozygous mice are sterile, displaying small testis, arrest of male meiosis and abnormal spermatocyte morphology. Females are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Tdrd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Tdrd9	APN	12	112040434	missense	probably damaging	1.00
IGL01542:Tdrd9	APN	12	112046989	missense	possibly damaging	0.94
IGL02967:Tdrd9	APN	12	111992488	missense	possibly damaging	0.50
IGL03063:Tdrd9	APN	12	112044299	missense	probably benign	0.00
IGL03107:Tdrd9	APN	12	112042840	missense	probably damaging	0.98
R0433:Tdrd9	UTSW	12	112025581	nonsense	probably null
R0453:Tdrd9	UTSW	12	112068239	missense	probably benign
R0655:Tdrd9	UTSW	12	112040465	missense	probably damaging	1.00
R0666:Tdrd9	UTSW	12	112007580	intron	probably benign
R1073:Tdrd9	UTSW	12	112023259	missense	probably damaging	1.00
R1280:Tdrd9	UTSW	12	112039408	missense	probably damaging	1.00
R1386:Tdrd9	UTSW	12	112044804	missense	probably benign	0.21
R1521:Tdrd9	UTSW	12	112036410	missense	probably damaging	1.00
R1601:Tdrd9	UTSW	12	112023253	nonsense	probably null
R1651:Tdrd9	UTSW	12	112024706	missense	probably damaging	0.97
R1715:Tdrd9	UTSW	12	112036439	missense	possibly damaging	0.62
R1854:Tdrd9	UTSW	12	112044812	missense	probably damaging	1.00
R1905:Tdrd9	UTSW	12	112063627	splice site	probably benign
R2386:Tdrd9	UTSW	12	112015900	missense	probably damaging	1.00
R2863:Tdrd9	UTSW	12	112031261	missense	probably benign
R2915:Tdrd9	UTSW	12	112040461	missense	probably damaging	1.00
R2958:Tdrd9	UTSW	12	112041672	missense	probably damaging	0.97
R4033:Tdrd9	UTSW	12	111992539	missense	possibly damaging	0.58
R4087:Tdrd9	UTSW	12	112013486	nonsense	probably null
R4237:Tdrd9	UTSW	12	112067625	nonsense	probably null
R4482:Tdrd9	UTSW	12	112014501	critical splice donor site	probably null
R4501:Tdrd9	UTSW	12	112042809	missense	probably benign	0.00
R4502:Tdrd9	UTSW	12	111993825	missense	probably damaging	1.00
R4715:Tdrd9	UTSW	12	112041689	missense	probably benign	0.00
R4803:Tdrd9	UTSW	12	111996835	nonsense	probably null
R5218:Tdrd9	UTSW	12	112063475	intron	probably benign
R5275:Tdrd9	UTSW	12	112051912	nonsense	probably null
R5295:Tdrd9	UTSW	12	112051912	nonsense	probably null
R5301:Tdrd9	UTSW	12	112036529	critical splice donor site	probably null
R5339:Tdrd9	UTSW	12	112027122	missense	probably damaging	1.00
R5500:Tdrd9	UTSW	12	112023268	missense	probably benign	0.02
R5573:Tdrd9	UTSW	12	111997902	synonymous	probably null
R5590:Tdrd9	UTSW	12	112051980	missense	probably benign	0.01
R5891:Tdrd9	UTSW	12	112042719	missense	probably damaging	1.00
R6056:Tdrd9	UTSW	12	111985041	missense	probably damaging	1.00
R6057:Tdrd9	UTSW	12	112013286	missense	possibly damaging	0.85
R6125:Tdrd9	UTSW	12	112068198	missense	possibly damaging	0.89
R6254:Tdrd9	UTSW	12	112025900	splice site	probably null
R6335:Tdrd9	UTSW	12	112041752	critical splice donor site	probably null
R6345:Tdrd9	UTSW	12	112034608	missense	probably damaging	0.99
R6792:Tdrd9	UTSW	12	112027113	missense	probably benign	0.01
R6956:Tdrd9	UTSW	12	112036354	splice site	probably benign
R6987:Tdrd9	UTSW	12	112025593	missense	possibly damaging	0.82
R7090:Tdrd9	UTSW	12	111992470	missense	probably benign
R7158:Tdrd9	UTSW	12	112036366	missense	probably benign	0.08
R7220:Tdrd9	UTSW	12	112014454	missense	probably damaging	1.00
R7478:Tdrd9	UTSW	12	111985042	missense	probably damaging	1.00
R7489:Tdrd9	UTSW	12	112067637	missense	probably benign	0.00
X0018:Tdrd9	UTSW	12	112039329	missense	probably benign	0.24

Posted On

2015-04-16