Mutagenetix > Incidental Mutation

Incidental Mutation 'R8018:Tdrd9'

617228

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

067458-MU

Accession Numbers

Essential gene?

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

Stock #

R8018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112010822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1130 (R1130W)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

AlphaFold

Q14BI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079009
AA Change: R1130W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: R1130W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (45/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,880,991 (GRCm39)	T146I	unknown	Het
Abca16	A	G	7: 120,132,866 (GRCm39)	E1265G	probably benign	Het
Adar	T	C	3: 89,654,882 (GRCm39)	S924P	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankmy1	A	T	1: 92,814,003 (GRCm39)	L392Q	probably benign	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Ccdc158	T	C	5: 92,771,260 (GRCm39)	D985G	possibly damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Ctbp2	T	C	7: 132,616,095 (GRCm39)	K280R	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnaaf4	T	A	9: 72,879,598 (GRCm39)		probably benign	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Elfn2	A	G	15: 78,557,968 (GRCm39)	L193P	probably damaging	Het
Fcrl2	A	T	3: 87,166,933 (GRCm39)	L20*	probably null	Het
Flcn	T	C	11: 59,684,948 (GRCm39)	D501G	probably damaging	Het
Gmip	A	G	8: 70,268,143 (GRCm39)	E399G	probably benign	Het
Grm7	A	G	6: 111,184,737 (GRCm39)	E356G	probably benign	Het
Hs3st2	A	G	7: 121,099,639 (GRCm39)		probably null	Het
Kcnh2	G	A	5: 24,525,014 (GRCm39)	S1158L	probably damaging	Het
Lancl2	A	G	6: 57,690,078 (GRCm39)	T104A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mthfd2l	T	A	5: 91,107,672 (GRCm39)	I178N	probably damaging	Het
Nbeal2	G	T	9: 110,458,225 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,006 (GRCm39)	K564*	probably null	Het
Nipal3	C	T	4: 135,174,659 (GRCm39)	R364H	possibly damaging	Het
Or2b4	A	G	17: 38,116,038 (GRCm39)	M1V	probably null	Het
Oxa1l	A	G	14: 54,600,757 (GRCm39)	I77V	not run	Het
Phf10	T	A	17: 15,174,378 (GRCm39)	Q233H	possibly damaging	Het
Pias2	T	A	18: 77,216,654 (GRCm39)	N288K	probably benign	Het
Pramel43	T	C	5: 94,761,839 (GRCm39)	N244S	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Ralgapa2	T	C	2: 146,182,311 (GRCm39)	D1676G	probably damaging	Het
Rapgefl1	T	G	11: 98,731,166 (GRCm39)		probably null	Het
Rrp7a	C	T	15: 83,001,125 (GRCm39)	E269K	possibly damaging	Het
Ryr3	A	C	2: 112,508,777 (GRCm39)	M3399R	probably damaging	Het
Secisbp2l	C	A	2: 125,587,829 (GRCm39)	R762L	probably damaging	Het
Smad7	T	G	18: 75,502,355 (GRCm39)	L110R	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tcea3	T	G	4: 135,985,229 (GRCm39)		probably benign	Het
Tia1	C	T	6: 86,402,034 (GRCm39)	P189S	probably benign	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ubxn8	A	G	8: 34,113,243 (GRCm39)	C204R	probably damaging	Het
Vmn1r76	A	G	7: 11,664,810 (GRCm39)	S135P	probably damaging	Het
Vps18	T	A	2: 119,124,492 (GRCm39)	L473H	probably damaging	Het
Zfp444	A	G	7: 6,191,142 (GRCm39)	T108A	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
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	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'- TGTCCCTGCATATTCATGGC -3'
(R):5'- TTCCCCAGTGATGGACAGAAC -3'

Sequencing Primer
(F):5'- CTGCATATTCATGGCATTCAAATAGG -3'
(R):5'- CCCAGTGATGGACAGAACAACAG -3'

Posted On

2020-01-23