Mutagenetix > Incidental Mutation

Incidental Mutation 'R4033:Tdrd9'

313599

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

040961-MU

Accession Numbers

Essential gene?

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

Stock #

R4033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111958973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 136 (I136L)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

AlphaFold

Q14BI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079009
AA Change: I136L

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: I136L

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

0.0784

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	G	8: 44,079,710 (GRCm39)	M171I	probably benign	Het
Als2	G	T	1: 59,235,400 (GRCm39)	S761R	probably benign	Het
Ankrd63	C	A	2: 118,533,412 (GRCm39)		probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Car9	T	C	4: 43,508,624 (GRCm39)	V131A	possibly damaging	Het
Cerk	T	G	15: 86,039,228 (GRCm39)	H221P	possibly damaging	Het
Cfap69	A	T	5: 5,654,389 (GRCm39)	I458N	possibly damaging	Het
Chil4	T	C	3: 106,121,765 (GRCm39)	Y28C	probably damaging	Het
Cracd	A	G	5: 77,006,312 (GRCm39)	N891S	unknown	Het
Dmxl1	A	G	18: 49,984,498 (GRCm39)	T165A	possibly damaging	Het
Erich6b	A	T	14: 75,896,207 (GRCm39)	N31I	probably benign	Het
Fgf17	G	T	14: 70,878,966 (GRCm39)		probably benign	Het
Fhit	A	T	14: 10,751,671 (GRCm38)		probably benign	Het
Fnip1	A	T	11: 54,393,297 (GRCm39)	I578L	probably benign	Het
Gm17641	C	T	3: 68,777,146 (GRCm39)	R36W	probably damaging	Het
Gprin2	A	T	14: 33,916,635 (GRCm39)	D378E	probably benign	Het
Grhl3	T	A	4: 135,300,735 (GRCm39)	M1L	probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Ifih1	G	A	2: 62,465,534 (GRCm39)	S212L	probably benign	Het
Iqck	T	C	7: 118,540,827 (GRCm39)	I242T	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lsm14b	A	G	2: 179,673,309 (GRCm39)	K195E	probably benign	Het
Mical1	G	A	10: 41,357,172 (GRCm39)	V326I	probably benign	Het
Mtnr1b	A	T	9: 15,774,830 (GRCm39)	N76K	probably damaging	Het
Nalcn	T	C	14: 123,837,401 (GRCm39)		probably benign	Het
Nop14	T	C	5: 34,807,861 (GRCm39)	D367G	probably benign	Het
Nrxn3	T	C	12: 89,499,771 (GRCm39)	C721R	probably damaging	Het
Or51e1	C	T	7: 102,358,697 (GRCm39)	T77I	probably damaging	Het
Prr27	G	T	5: 87,991,164 (GRCm39)	E259*	probably null	Het
Psmg3	G	A	5: 139,812,086 (GRCm39)	P5S	probably damaging	Het
Pxdn	A	G	12: 30,053,224 (GRCm39)	T1134A	probably benign	Het
Rbm28	T	C	6: 29,159,668 (GRCm39)	N120S	probably damaging	Het
Reg3b	A	T	6: 78,350,192 (GRCm39)	K157N	possibly damaging	Het
Rlf	T	G	4: 121,004,540 (GRCm39)	Q1480P	probably damaging	Het
Slc16a12	A	T	19: 34,652,567 (GRCm39)	L193Q	probably damaging	Het
Smo	G	A	6: 29,759,917 (GRCm39)	R672H	probably damaging	Het
Smyd4	A	G	11: 75,240,580 (GRCm39)	D25G	probably benign	Het
Sorbs2	C	G	8: 46,228,632 (GRCm39)	D264E	probably damaging	Het
Tctn3	G	T	19: 40,585,767 (GRCm39)	Q593K	probably benign	Het
Tshz3	G	A	7: 36,470,009 (GRCm39)	S666N	possibly damaging	Het
Ubn1	C	T	16: 4,882,475 (GRCm39)	T69M	probably damaging	Het
Unk	A	T	11: 115,944,353 (GRCm39)	H368L	probably benign	Het
Zan	A	T	5: 137,436,122 (GRCm39)	L2051*	probably null	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
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'- GCCTGCATCATTAATAGTGGACC -3'
(R):5'- TACATCTGAGCACGGCACAC -3'

Sequencing Primer
(F):5'- CCACCAAGAGGGAAGGACTGTC -3'
(R):5'- ACACAGAGCCTTAGCCGG -3'

Posted On

2015-04-30