Mutagenetix > Incidental Mutation

Incidental Mutation 'R1073:Tdrd9'

85544

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

039159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R1073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111989693 bp (GRCm39)

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]

AlphaFold

Q14BI7

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: 135,963,742 (GRCm39)	I334T	probably damaging	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Cacna2d3	T	A	14: 28,767,580 (GRCm39)	H765L	probably damaging	Het
Cngb1	A	G	8: 96,030,195 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,408,477 (GRCm39)		probably benign	Het
Cux1	A	T	5: 136,281,395 (GRCm39)		probably null	Het
D7Ertd443e	T	C	7: 133,871,947 (GRCm39)	K232R	probably damaging	Het
Dock6	A	G	9: 21,757,814 (GRCm39)	S97P	probably benign	Het
Eml5	G	A	12: 98,797,232 (GRCm39)	A1099V	probably damaging	Het
Gtf2h1	G	A	7: 46,466,368 (GRCm39)	A472T	probably damaging	Het
Krt82	T	A	15: 101,458,689 (GRCm39)	D117V	probably damaging	Het
Lrfn5	A	G	12: 61,887,595 (GRCm39)	Y461C	probably damaging	Het
Mmrn2	G	A	14: 34,118,251 (GRCm39)		probably null	Het
Mrtfb	T	A	16: 13,230,182 (GRCm39)	S956T	possibly damaging	Het
Msrb3	T	A	10: 120,620,041 (GRCm39)	S93C	possibly damaging	Het
Ncl	AAAGCCTCCC	AAAGCCTCCCAAGCCTCCC	1: 86,278,538 (GRCm39)		probably benign	Het
Or8k41	A	G	2: 86,313,984 (GRCm39)	I34T	probably damaging	Het
Osbpl10	C	T	9: 115,036,621 (GRCm39)	Q381*	probably null	Het
Pelp1	A	G	11: 70,287,416 (GRCm39)	L464P	probably damaging	Het
Pigs	A	G	11: 78,226,431 (GRCm39)	D216G	probably benign	Het
Ptprk	T	C	10: 28,372,943 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,294,370 (GRCm39)		probably null	Het
Ros1	T	A	10: 51,922,221 (GRCm39)	D2284V	probably damaging	Het
Rptor	T	C	11: 119,634,717 (GRCm39)	S178P	possibly damaging	Het
Slc8a1	C	T	17: 81,955,836 (GRCm39)	D401N	probably damaging	Het
Tas2r143	T	C	6: 42,377,694 (GRCm39)	Y175H	probably benign	Het
Tmem38a	A	G	8: 73,333,947 (GRCm39)	H142R	probably damaging	Het
Tmem44	A	G	16: 30,333,651 (GRCm39)		probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Umod	A	G	7: 119,063,964 (GRCm39)	V614A	possibly damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Wdr37	A	T	13: 8,855,876 (GRCm39)	I489N	probably damaging	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp866	A	T	8: 70,220,272 (GRCm39)		probably benign	Het

Other mutations in Tdrd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Tdrd9	APN	12	112,006,868 (GRCm39)	missense	probably damaging	1.00
IGL01373:Tdrd9	APN	12	112,006,868 (GRCm39)	missense	probably damaging	1.00
IGL01542:Tdrd9	APN	12	112,013,423 (GRCm39)	missense	possibly damaging	0.94
IGL02967:Tdrd9	APN	12	111,958,922 (GRCm39)	missense	possibly damaging	0.50
IGL03063:Tdrd9	APN	12	112,010,733 (GRCm39)	missense	probably benign	0.00
IGL03107:Tdrd9	APN	12	112,009,274 (GRCm39)	missense	probably damaging	0.98
R0433:Tdrd9	UTSW	12	111,992,015 (GRCm39)	nonsense	probably null
R0453:Tdrd9	UTSW	12	112,034,673 (GRCm39)	missense	probably benign
R0655:Tdrd9	UTSW	12	112,006,899 (GRCm39)	missense	probably damaging	1.00
R0666:Tdrd9	UTSW	12	111,974,014 (GRCm39)	intron	probably benign
R1280:Tdrd9	UTSW	12	112,005,842 (GRCm39)	missense	probably damaging	1.00
R1386:Tdrd9	UTSW	12	112,011,238 (GRCm39)	missense	probably benign	0.21
R1521:Tdrd9	UTSW	12	112,002,844 (GRCm39)	missense	probably damaging	1.00
R1601:Tdrd9	UTSW	12	111,989,687 (GRCm39)	nonsense	probably null
R1651:Tdrd9	UTSW	12	111,991,140 (GRCm39)	missense	probably damaging	0.97
R1715:Tdrd9	UTSW	12	112,002,873 (GRCm39)	missense	possibly damaging	0.62
R1854:Tdrd9	UTSW	12	112,011,246 (GRCm39)	missense	probably damaging	1.00
R1905:Tdrd9	UTSW	12	112,030,061 (GRCm39)	splice site	probably benign
R2386:Tdrd9	UTSW	12	111,982,334 (GRCm39)	missense	probably damaging	1.00
R2863:Tdrd9	UTSW	12	111,997,695 (GRCm39)	missense	probably benign
R2915:Tdrd9	UTSW	12	112,006,895 (GRCm39)	missense	probably damaging	1.00
R2958:Tdrd9	UTSW	12	112,008,106 (GRCm39)	missense	probably damaging	0.97
R4033:Tdrd9	UTSW	12	111,958,973 (GRCm39)	missense	possibly damaging	0.58
R4087:Tdrd9	UTSW	12	111,979,920 (GRCm39)	nonsense	probably null
R4237:Tdrd9	UTSW	12	112,034,059 (GRCm39)	nonsense	probably null
R4482:Tdrd9	UTSW	12	111,980,935 (GRCm39)	critical splice donor site	probably null
R4501:Tdrd9	UTSW	12	112,009,243 (GRCm39)	missense	probably benign	0.00
R4502:Tdrd9	UTSW	12	111,960,259 (GRCm39)	missense	probably damaging	1.00
R4715:Tdrd9	UTSW	12	112,008,123 (GRCm39)	missense	probably benign	0.00
R4803:Tdrd9	UTSW	12	111,963,269 (GRCm39)	nonsense	probably null
R5218:Tdrd9	UTSW	12	112,029,909 (GRCm39)	intron	probably benign
R5275:Tdrd9	UTSW	12	112,018,346 (GRCm39)	nonsense	probably null
R5295:Tdrd9	UTSW	12	112,018,346 (GRCm39)	nonsense	probably null
R5301:Tdrd9	UTSW	12	112,002,963 (GRCm39)	critical splice donor site	probably null
R5339:Tdrd9	UTSW	12	111,993,556 (GRCm39)	missense	probably damaging	1.00
R5500:Tdrd9	UTSW	12	111,989,702 (GRCm39)	missense	probably benign	0.02
R5573:Tdrd9	UTSW	12	111,964,336 (GRCm39)	splice site	probably null
R5590:Tdrd9	UTSW	12	112,018,414 (GRCm39)	missense	probably benign	0.01
R5891:Tdrd9	UTSW	12	112,009,153 (GRCm39)	missense	probably damaging	1.00
R6056:Tdrd9	UTSW	12	111,951,475 (GRCm39)	missense	probably damaging	1.00
R6057:Tdrd9	UTSW	12	111,979,720 (GRCm39)	missense	possibly damaging	0.85
R6125:Tdrd9	UTSW	12	112,034,632 (GRCm39)	missense	possibly damaging	0.89
R6254:Tdrd9	UTSW	12	111,992,334 (GRCm39)	splice site	probably null
R6335:Tdrd9	UTSW	12	112,008,186 (GRCm39)	critical splice donor site	probably null
R6345:Tdrd9	UTSW	12	112,001,042 (GRCm39)	missense	probably damaging	0.99
R6792:Tdrd9	UTSW	12	111,993,547 (GRCm39)	missense	probably benign	0.01
R6956:Tdrd9	UTSW	12	112,002,788 (GRCm39)	splice site	probably benign
R6987:Tdrd9	UTSW	12	111,992,027 (GRCm39)	missense	possibly damaging	0.82
R7090:Tdrd9	UTSW	12	111,958,904 (GRCm39)	missense	probably benign
R7158:Tdrd9	UTSW	12	112,002,800 (GRCm39)	missense	probably benign	0.08
R7220:Tdrd9	UTSW	12	111,980,888 (GRCm39)	missense	probably damaging	1.00
R7478:Tdrd9	UTSW	12	111,951,476 (GRCm39)	missense	probably damaging	1.00
R7489:Tdrd9	UTSW	12	112,034,071 (GRCm39)	missense	probably benign	0.00
R7751:Tdrd9	UTSW	12	111,958,982 (GRCm39)	missense	probably benign	0.09
R7809:Tdrd9	UTSW	12	111,999,155 (GRCm39)	missense	probably damaging	0.99
R7844:Tdrd9	UTSW	12	111,964,386 (GRCm39)	missense	possibly damaging	0.63
R7854:Tdrd9	UTSW	12	112,013,395 (GRCm39)	missense	probably benign	0.00
R7903:Tdrd9	UTSW	12	112,018,410 (GRCm39)	missense	possibly damaging	0.95
R7938:Tdrd9	UTSW	12	111,997,649 (GRCm39)	missense	possibly damaging	0.86
R8018:Tdrd9	UTSW	12	112,010,822 (GRCm39)	missense	probably damaging	0.99
R8018:Tdrd9	UTSW	12	111,999,180 (GRCm39)	missense	probably benign	0.12
R8090:Tdrd9	UTSW	12	111,982,369 (GRCm39)	missense	probably damaging	1.00
R8157:Tdrd9	UTSW	12	111,951,500 (GRCm39)	missense	probably benign	0.44
R8198:Tdrd9	UTSW	12	112,006,863 (GRCm39)	missense	probably damaging	1.00
R8203:Tdrd9	UTSW	12	111,992,064 (GRCm39)	missense	probably damaging	1.00
R8512:Tdrd9	UTSW	12	112,012,627 (GRCm39)	missense	probably benign
R8721:Tdrd9	UTSW	12	112,002,889 (GRCm39)	missense	probably damaging	1.00
R8889:Tdrd9	UTSW	12	111,979,718 (GRCm39)	missense	probably benign	0.07
R8892:Tdrd9	UTSW	12	111,979,718 (GRCm39)	missense	probably benign	0.07
R9276:Tdrd9	UTSW	12	111,980,935 (GRCm39)	critical splice donor site	probably null
R9459:Tdrd9	UTSW	12	111,992,007 (GRCm39)	missense	probably damaging	1.00
R9484:Tdrd9	UTSW	12	112,012,684 (GRCm39)	missense	probably damaging	0.97
R9657:Tdrd9	UTSW	12	112,002,824 (GRCm39)	missense	possibly damaging	0.50
R9745:Tdrd9	UTSW	12	112,009,130 (GRCm39)	missense	probably damaging	0.99
X0018:Tdrd9	UTSW	12	112,005,763 (GRCm39)	missense	probably benign	0.24
Z1177:Tdrd9	UTSW	12	111,982,355 (GRCm39)	missense	probably damaging	1.00
Z1177:Tdrd9	UTSW	12	111,960,325 (GRCm39)	missense	probably damaging	0.96
Z1177:Tdrd9	UTSW	12	111,938,088 (GRCm39)	missense	probably benign	0.08

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