Mutagenetix > Incidental Mutation

Incidental Mutation 'R5339:Tdrd9'

423708

Institutional Source

Beutler Lab

Gene Symbol

Tdrd9

Ensembl Gene

ENSMUSG00000054003

Gene Name

tudor domain containing 9

Synonyms

4930441E05Rik

MMRRC Submission

042918-MU

Accession Numbers

Essential gene?

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

Stock #

R5339 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111937993-112035288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111993556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 695 (Y695H)

Ref Sequence

ENSEMBL: ENSMUSP00000078022 (fasta)

Gene Model

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

AlphaFold

Q14BI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079009
AA Change: Y695H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078022
Gene: ENSMUSG00000054003
AA Change: Y695H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194800

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (57/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,350 (GRCm39)	G158E	probably damaging	Het
Adgrl2	C	T	3: 148,523,480 (GRCm39)	R1256H	probably benign	Het
C3	C	A	17: 57,531,308 (GRCm39)	V329F	probably damaging	Het
Ccdc50	C	T	16: 27,236,055 (GRCm39)	H130Y	probably damaging	Het
Chrna7	A	G	7: 62,749,055 (GRCm39)	S476P	probably damaging	Het
Crtc1	A	T	8: 70,850,383 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,536,494 (GRCm39)	T2137A	possibly damaging	Het
Ehd3	G	A	17: 74,135,202 (GRCm39)	M359I	possibly damaging	Het
Fastkd3	G	A	13: 68,738,283 (GRCm39)	G611R	probably damaging	Het
Foxa2	T	A	2: 147,886,354 (GRCm39)	S154C	probably damaging	Het
Gfm2	T	C	13: 97,311,548 (GRCm39)	I733T	probably benign	Het
Gm1968	T	C	16: 29,781,077 (GRCm39)		noncoding transcript	Het
Gmfg-ps	T	C	6: 4,893,401 (GRCm39)		noncoding transcript	Het
Gzmd	A	T	14: 56,368,140 (GRCm39)	N106K	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,122 (GRCm39)	W883R	probably damaging	Het
Itpr1	T	A	6: 108,370,922 (GRCm39)	V1063D	probably damaging	Het
Kansl3	A	C	1: 36,406,802 (GRCm39)		probably benign	Het
Klkb1	C	A	8: 45,723,748 (GRCm39)	V556F	possibly damaging	Het
Krtap14	C	A	16: 88,622,747 (GRCm39)	R77S	probably benign	Het
Leng8	T	A	7: 4,148,285 (GRCm39)	Y686N	possibly damaging	Het
Mctp1	C	A	13: 76,973,825 (GRCm39)		probably benign	Het
Moxd2	T	C	6: 40,862,354 (GRCm39)	Y155C	probably damaging	Het
Ofcc1	A	G	13: 40,241,321 (GRCm39)	V729A	probably benign	Het
Or2w6	G	A	13: 21,843,404 (GRCm39)	L30F	probably benign	Het
Or4k1	C	A	14: 50,377,759 (GRCm39)	M112I	probably damaging	Het
Or7g27	G	A	9: 19,250,455 (GRCm39)	G233E	possibly damaging	Het
Or8g30	A	T	9: 39,230,599 (GRCm39)	F104I	possibly damaging	Het
Or8g37	T	A	9: 39,731,229 (GRCm39)	M98K	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Pex5	A	T	6: 124,374,963 (GRCm39)	S629T	probably benign	Het
Pnpla7	T	C	2: 24,892,949 (GRCm39)	S146P	probably benign	Het
Prune2	G	A	19: 17,098,236 (GRCm39)	E1247K	probably damaging	Het
Reg3a	A	G	6: 78,360,522 (GRCm39)		probably null	Het
Snx8	G	A	5: 140,343,905 (GRCm39)	R78C	probably damaging	Het
Sstr5	T	C	17: 25,710,173 (GRCm39)	E352G	probably benign	Het
Svep1	T	C	4: 58,121,892 (GRCm39)	Y767C	possibly damaging	Het
Tbx15	G	A	3: 99,223,600 (GRCm39)	V263M	possibly damaging	Het
Tep1	A	T	14: 51,082,031 (GRCm39)	L1174Q	probably damaging	Het
Tg	T	A	15: 66,549,942 (GRCm39)	Y235N	probably damaging	Het
Tha1	C	A	11: 117,761,908 (GRCm39)	R111L	possibly damaging	Het
Trim17	C	T	11: 58,845,336 (GRCm39)		probably null	Het
Trim72	A	G	7: 127,609,505 (GRCm39)	T436A	probably benign	Het
Uba7	C	T	9: 107,856,065 (GRCm39)	A480V	probably damaging	Het
Ublcp1	A	T	11: 44,346,435 (GRCm39)	S313T	probably benign	Het
Ubqlnl	A	G	7: 103,798,972 (GRCm39)	V175A	probably benign	Het
Vps26a	A	G	10: 62,294,746 (GRCm39)	L276P	probably damaging	Het
Zdhhc21	C	T	4: 82,756,550 (GRCm39)	G110S	probably damaging	Het
Zfp236	T	C	18: 82,642,491 (GRCm39)	E1133G	probably damaging	Het
Zfp800	A	T	6: 28,256,472 (GRCm39)	S39T	probably 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
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'- TATGTGGTCACTCAAGCGC -3'
(R):5'- AATGACCTTTGTTGCTGCTG -3'

Sequencing Primer
(F):5'- AAGCGCACTGTTCACTACTG -3'
(R):5'- GTTCTGGAACTCACCCTGTAGAC -3'

Posted On

2016-08-04