Mutagenetix > Incidental Mutation

Incidental Mutation 'R2958:Tdrd9'

263270

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

040519-MU

Accession Numbers

Essential gene?

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

Stock #

R2958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112008106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 982 (V982A)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

AlphaFold

Q14BI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079009
AA Change: V982A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: V982A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,767,782 (GRCm39)	L1233Q	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cep78	C	A	19: 15,956,273 (GRCm39)	R222L	probably damaging	Het
Eml5	T	C	12: 98,842,437 (GRCm39)	I220M	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx5	A	G	5: 120,573,542 (GRCm39)	N175S	probably benign	Het
Nrg3	G	T	14: 39,194,669 (GRCm39)	A30E	unknown	Het
Numa1	C	A	7: 101,658,702 (GRCm39)	R1663S	possibly damaging	Het
Nwd2	G	A	5: 63,963,325 (GRCm39)	V970I	probably benign	Het
Or51ah3	T	C	7: 103,210,512 (GRCm39)	V276A	possibly damaging	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tor4a	G	T	2: 25,084,980 (GRCm39)	Q308K	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	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
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'- ACTGTGGATTTGAATTAGCACTTCCTG -3'
(R):5'- GATCCTCCATTCATTCTGACTAATGTG -3'

Sequencing Primer
(F):5'- TGCCCACCCCCAGGAATATAATG -3'
(R):5'- TTGTGTCCAACACTCGTC -3'

Posted On

2015-02-05