Mutagenetix > Incidental Mutation

Incidental Mutation 'R6987:Tdrd9'

543045

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

045094-MU

Accession Numbers

Essential gene?

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

Stock #

R6987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111992027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 601 (Q601K)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

AlphaFold

Q14BI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079009
AA Change: Q601K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: Q601K

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: ENSMUST00000192125

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.9%

Validation Efficiency

100% (47/47)

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
Adam10	A	G	9: 70,629,978 (GRCm39)	I137V	probably benign	Het
Agtr1b	A	C	3: 20,370,585 (GRCm39)	I7S	probably benign	Het
Akt2	G	T	7: 27,332,666 (GRCm39)	V215L	probably damaging	Het
Ccdc148	C	A	2: 58,872,926 (GRCm39)	L294F	probably damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Cldnd1	A	G	16: 58,551,734 (GRCm39)	D121G	probably benign	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2c40	A	G	19: 39,801,211 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,881,065 (GRCm39)	I601V	possibly damaging	Het
Dnhd1	C	A	7: 105,353,792 (GRCm39)	H2982N	probably damaging	Het
Elavl4	A	T	4: 110,108,602 (GRCm39)	D55E	possibly damaging	Het
Enc1	T	C	13: 97,382,144 (GRCm39)	I218T	probably benign	Het
Fbln2	T	A	6: 91,211,211 (GRCm39)	V385D	probably benign	Het
Ffar2	A	G	7: 30,519,108 (GRCm39)	V144A	possibly damaging	Het
Fsip2	C	T	2: 82,778,630 (GRCm39)	Q159*	probably null	Het
Golga4	A	G	9: 118,387,600 (GRCm39)	H1574R	probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Lama4	A	G	10: 38,950,275 (GRCm39)	N985D	probably benign	Het
Lrp1	T	C	10: 127,410,874 (GRCm39)	N1438S	probably damaging	Het
Masp1	C	A	16: 23,332,665 (GRCm39)	V57F	probably damaging	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Nos1	C	T	5: 118,033,850 (GRCm39)	T324M	probably benign	Het
Npas3	A	G	12: 54,115,036 (GRCm39)	K635E	possibly damaging	Het
Or5p4	C	A	7: 107,680,338 (GRCm39)	C112*	probably null	Het
Or8b12i	A	T	9: 20,082,130 (GRCm39)	S246T	probably benign	Het
Osbp2	T	C	11: 3,667,958 (GRCm39)	E13G	probably damaging	Het
Pira12	A	G	7: 3,900,660 (GRCm39)	I30T	probably damaging	Het
Pkd1l1	A	G	11: 8,852,575 (GRCm39)	M636T	probably benign	Het
Pla2g4e	C	T	2: 120,016,861 (GRCm39)	A227T	probably benign	Het
Prex2	C	A	1: 11,240,976 (GRCm39)	A1028E	probably damaging	Het
Prr14	A	G	7: 127,072,977 (GRCm39)	D49G	possibly damaging	Het
Slc9a9	A	G	9: 94,552,043 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,660,021 (GRCm39)	C960R	probably benign	Het
Taf15	C	A	11: 83,375,521 (GRCm39)	T31K	possibly damaging	Het
Tes	C	A	6: 17,086,154 (GRCm39)	Q16K	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem168	T	A	6: 13,591,476 (GRCm39)	M63L	possibly damaging	Het
Trav14-1	C	T	14: 53,791,916 (GRCm39)	R89*	probably null	Het
Trp53bp2	A	T	1: 182,274,200 (GRCm39)	Y615F	probably damaging	Het
Ttc27	T	C	17: 75,084,736 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,874,068 (GRCm39)	V548E	probably damaging	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vmn1r69	A	G	7: 10,314,491 (GRCm39)	M1T	probably null	Het
Zfp729a	T	A	13: 67,768,058 (GRCm39)	K724*	probably null	Het
Zfp850	A	T	7: 27,689,426 (GRCm39)	C261S	probably damaging	Het
Zfp882	T	A	8: 72,668,517 (GRCm39)	V448E	probably benign	Het
Zzef1	A	G	11: 72,746,340 (GRCm39)	M881V	possibly damaging	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
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'- GTCTCAGAACCTTACTCACCAG -3'
(R):5'- TTCAGAGAAAGAGCTGCCGC -3'

Sequencing Primer
(F):5'- AGCTGGTGTACCGCCTGTC -3'
(R):5'- AACAGAGTATGAAGCCCG -3'

Posted On

2018-11-28