Mutagenetix > Incidental Mutations

Incidental Mutation 'R1073:Tdrd9'

85544

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

MMRRC Submission

039159-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R1073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111971559-112068854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112023259 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 502 (S502P)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079009
AA Change: S502P

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

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: S502P

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

unknown
Transcript: ENSMUST00000191808
AA Change: S343P

Predicted Effect

probably benign
Transcript: ENSMUST00000192125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194800

Meta Mutation Damage Score

0.4122

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.5%

Validation Efficiency

98% (40/41)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	T	C	4: 136,236,431	I334T	probably damaging	Het
Atxn7l3	C	G	11: 102,292,435		probably benign	Het
Cacna2d3	T	A	14: 29,045,623	H765L	probably damaging	Het
Cngb1	A	G	8: 95,303,567		probably null	Het
Csmd1	C	T	8: 16,358,463		probably benign	Het
Cux1	A	T	5: 136,252,541		probably null	Het
D7Ertd443e	T	C	7: 134,270,218	K232R	probably damaging	Het
Dock6	A	G	9: 21,846,518	S97P	probably benign	Het
Eml5	G	A	12: 98,830,973	A1099V	probably damaging	Het
Gtf2h1	G	A	7: 46,816,944	A472T	probably damaging	Het
Krt82	T	A	15: 101,550,254	D117V	probably damaging	Het
Lrfn5	A	G	12: 61,840,809	Y461C	probably damaging	Het
Mkl2	T	A	16: 13,412,318	S956T	possibly damaging	Het
Mmrn2	G	A	14: 34,396,294		probably null	Het
Msrb3	T	A	10: 120,784,136	S93C	possibly damaging	Het
Ncl	AAAGCCTCCC	AAAGCCTCCCAAGCCTCCC	1: 86,350,816		probably benign	Het
Olfr228	A	G	2: 86,483,640	I34T	probably damaging	Het
Osbpl10	C	T	9: 115,207,553	Q381*	probably null	Het
Pelp1	A	G	11: 70,396,590	L464P	probably damaging	Het
Pigs	A	G	11: 78,335,605	D216G	probably benign	Het
Ptprk	T	C	10: 28,496,947		probably null	Het
Pyroxd1	T	C	6: 142,348,644		probably null	Het
Ros1	T	A	10: 52,046,125	D2284V	probably damaging	Het
Rptor	T	C	11: 119,743,891	S178P	possibly damaging	Het
Slc8a1	C	T	17: 81,648,407	D401N	probably damaging	Het
Tas2r143	T	C	6: 42,400,760	Y175H	probably benign	Het
Tmem38a	A	G	8: 72,580,103	H142R	probably damaging	Het
Tmem44	A	G	16: 30,514,833		probably benign	Het
Ugt2b38	T	G	5: 87,412,373	N361H	probably damaging	Het
Umod	A	G	7: 119,464,741	V614A	possibly damaging	Het
Vmn2r5	A	T	3: 64,491,305	L751*	probably null	Het
Wdr37	A	T	13: 8,805,840	I489N	probably damaging	Het
Xdh	T	C	17: 73,939,836	T78A	probably benign	Het
Zfp866	A	T	8: 69,767,622		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
IGL01373: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
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	splice site	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
R7751:Tdrd9	UTSW	12	111992548	missense	probably benign	0.09
R7809:Tdrd9	UTSW	12	112032721	missense	probably damaging	0.99
R7844:Tdrd9	UTSW	12	111997952	missense	possibly damaging	0.63
R7854:Tdrd9	UTSW	12	112046961	missense	probably benign	0.00
R7903:Tdrd9	UTSW	12	112051976	missense	possibly damaging	0.95
R7938:Tdrd9	UTSW	12	112031215	missense	possibly damaging	0.86
R8018:Tdrd9	UTSW	12	112032746	missense	probably benign	0.12
R8018:Tdrd9	UTSW	12	112044388	missense	probably damaging	0.99
R8090:Tdrd9	UTSW	12	112015935	missense	probably damaging	1.00
R8157:Tdrd9	UTSW	12	111985066	missense	probably benign	0.44
R8198:Tdrd9	UTSW	12	112040429	missense	probably damaging	1.00
R8203:Tdrd9	UTSW	12	112025630	missense	probably damaging	1.00
R8512:Tdrd9	UTSW	12	112046193	missense	probably benign
X0018:Tdrd9	UTSW	12	112039329	missense	probably benign	0.24
Z1177:Tdrd9	UTSW	12	111971654	missense	probably benign	0.08
Z1177:Tdrd9	UTSW	12	111993891	missense	probably damaging	0.96
Z1177:Tdrd9	UTSW	12	112015921	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCGTGCTTCTGTCATCACC -3'
(R):5'- GCTGACTTCCTGAGGAATGACTCAC -3'

Sequencing Primer
(F):5'- TGCAGGAAAGTGTATCCTTCAAAG -3'
(R):5'- gagagagagagacagaaagagac -3'

Posted On

2013-11-18