Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Tdrd9'

405369

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 112018346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1255 (L1255*)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

AlphaFold

Q14BI7

Predicted Effect

probably null
Transcript: ENSMUST00000079009
AA Change: L1255*

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: L1255*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,438,109 (GRCm39)	E1095K	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Cbln3	T	C	14: 56,120,920 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,785,152 (GRCm39)	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,181,755 (GRCm39)	I148F	probably damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Ighv1-77	T	A	12: 115,825,528 (GRCm39)	S104C	probably damaging	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lrrc7	T	A	3: 157,876,376 (GRCm39)	K571N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Ly6f	A	G	15: 75,143,488 (GRCm39)	Q65R	probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf213	A	T	11: 119,331,642 (GRCm39)	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,495,986 (GRCm39)	D90N	probably damaging	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,771 (GRCm39)	L800P	probably damaging	Het
Znhit6	A	G	3: 145,306,248 (GRCm39)	D251G	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
R1073:Tdrd9	UTSW	12	111,989,693 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTGTAAAAGCCGAGGAGTCAC -3'
(R):5'- AAACCGGCTAAGGAGTGGTC -3'

Sequencing Primer
(F):5'- CGAGGAGTCACATCATTTAGTTACGG -3'
(R):5'- CACCCTCAATACAGCCTGTGG -3'

Posted On

2016-07-22