Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Tdrd1'

189065

Institutional Source

Beutler Lab

Gene Symbol

Tdrd1

Ensembl Gene

ENSMUSG00000025081

Gene Name

tudor domain containing 1

Synonyms

MTR-1

MMRRC Submission

039691-MU

Accession Numbers

Genbank: NM_001002238

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56826209-56870012 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56843216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 346 (Y346*)

Ref Sequence

ENSEMBL: ENSMUSP00000112786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078723] [ENSMUST00000111604] [ENSMUST00000111606] [ENSMUST00000121249]

AlphaFold

Q99MV1

Predicted Effect

probably null
Transcript: ENSMUST00000078723
AA Change: Y346*

SMART Domains

Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: Y346*

Domain	Start	End	E-Value	Type
low complexity region	75	86	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Pfam:zf-MYND	163	199	3.5e-13	PFAM
TUDOR	306	365	6.45e-11	SMART
TUDOR	537	593	4.88e-11	SMART
low complexity region	698	714	N/A	INTRINSIC
low complexity region	728	739	N/A	INTRINSIC
TUDOR	755	813	3.97e-11	SMART
TUDOR	981	1038	1.27e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111604
AA Change: Y346*

SMART Domains

Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: Y346*

Domain	Start	End	E-Value	Type
low complexity region	75	86	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Pfam:zf-MYND	163	199	3.5e-13	PFAM
TUDOR	306	365	6.45e-11	SMART
TUDOR	537	593	4.88e-11	SMART
low complexity region	698	714	N/A	INTRINSIC
low complexity region	728	739	N/A	INTRINSIC
TUDOR	755	813	3.97e-11	SMART
TUDOR	981	1038	1.27e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111606
AA Change: Y346*

SMART Domains

Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: Y346*

Domain	Start	End	E-Value	Type
low complexity region	75	86	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Pfam:zf-MYND	163	199	3.5e-13	PFAM
TUDOR	306	365	6.45e-11	SMART
TUDOR	537	593	4.88e-11	SMART
low complexity region	698	714	N/A	INTRINSIC
low complexity region	728	739	N/A	INTRINSIC
TUDOR	755	813	3.97e-11	SMART
TUDOR	981	1038	1.27e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121249
AA Change: Y346*

SMART Domains

Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: Y346*

Domain	Start	End	E-Value	Type
low complexity region	75	86	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Pfam:zf-MYND	163	199	9.9e-13	PFAM
TUDOR	306	365	6.45e-11	SMART
TUDOR	537	593	4.88e-11	SMART
low complexity region	698	714	N/A	INTRINSIC
low complexity region	728	739	N/A	INTRINSIC
TUDOR	755	813	3.97e-11	SMART
TUDOR	981	1038	1.27e-9	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly damaging	Het

Other mutations in Tdrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Tdrd1	APN	19	56851464	missense	possibly damaging	0.51
IGL01366:Tdrd1	APN	19	56855302	missense	probably benign	0.00
IGL01569:Tdrd1	APN	19	56834409	missense	probably damaging	1.00
IGL02691:Tdrd1	APN	19	56843852	missense	probably damaging	0.99
3-1:Tdrd1	UTSW	19	56861695	missense	probably benign
R0081:Tdrd1	UTSW	19	56831271	missense	probably benign	0.16
R0139:Tdrd1	UTSW	19	56843198	missense	probably benign	0.00
R0254:Tdrd1	UTSW	19	56842566	missense	probably benign	0.02
R0686:Tdrd1	UTSW	19	56856051	missense	probably damaging	1.00
R0735:Tdrd1	UTSW	19	56865978	nonsense	probably null
R0740:Tdrd1	UTSW	19	56839099	missense	probably damaging	1.00
R1241:Tdrd1	UTSW	19	56861760	missense	probably benign
R1294:Tdrd1	UTSW	19	56848776	splice site	probably null
R1508:Tdrd1	UTSW	19	56851358	missense	probably damaging	1.00
R1708:Tdrd1	UTSW	19	56842289	missense	probably benign	0.13
R1796:Tdrd1	UTSW	19	56837783	missense	probably damaging	0.98
R1840:Tdrd1	UTSW	19	56842312	missense	probably damaging	1.00
R2138:Tdrd1	UTSW	19	56842589	missense	probably benign	0.30
R2201:Tdrd1	UTSW	19	56858661	missense	probably benign	0.14
R2201:Tdrd1	UTSW	19	56858662	missense	probably benign	0.00
R2286:Tdrd1	UTSW	19	56839119	missense	probably benign	0.05
R2443:Tdrd1	UTSW	19	56841354	missense	probably null	0.01
R3001:Tdrd1	UTSW	19	56861750	nonsense	probably null
R3002:Tdrd1	UTSW	19	56861750	nonsense	probably null
R3418:Tdrd1	UTSW	19	56831231	missense	possibly damaging	0.87
R3419:Tdrd1	UTSW	19	56831231	missense	possibly damaging	0.87
R3707:Tdrd1	UTSW	19	56865993	missense	possibly damaging	0.86
R3978:Tdrd1	UTSW	19	56866634	missense	probably benign	0.01
R4077:Tdrd1	UTSW	19	56831073	missense	probably benign	0.22
R4083:Tdrd1	UTSW	19	56843230	missense	probably benign
R4193:Tdrd1	UTSW	19	56851341	nonsense	probably null
R5882:Tdrd1	UTSW	19	56848939	missense	probably damaging	1.00
R6073:Tdrd1	UTSW	19	56843223	nonsense	probably null
R6223:Tdrd1	UTSW	19	56865850	missense	probably damaging	1.00
R6240:Tdrd1	UTSW	19	56841335	missense	probably benign	0.00
R6953:Tdrd1	UTSW	19	56831371	missense	probably damaging	0.98
R7090:Tdrd1	UTSW	19	56851401	missense	probably benign	0.28
R7643:Tdrd1	UTSW	19	56837708	missense	probably damaging	1.00
R7793:Tdrd1	UTSW	19	56864377	missense	probably damaging	0.99
R7972:Tdrd1	UTSW	19	56848702	missense	probably damaging	0.98
R7993:Tdrd1	UTSW	19	56866005	splice site	probably null
R8076:Tdrd1	UTSW	19	56843835	missense	probably damaging	0.96
R8346:Tdrd1	UTSW	19	56842267	missense	probably benign	0.44
R8400:Tdrd1	UTSW	19	56848649	missense	probably benign	0.05
R8553:Tdrd1	UTSW	19	56843152	missense	probably damaging	0.99
R8701:Tdrd1	UTSW	19	56851484	missense	possibly damaging	0.94
R8772:Tdrd1	UTSW	19	56855328	missense	probably damaging	0.99
R8906:Tdrd1	UTSW	19	56842713	missense	probably damaging	0.99
R9222:Tdrd1	UTSW	19	56843247	missense	probably benign	0.38
R9321:Tdrd1	UTSW	19	56860335	missense	probably damaging	1.00
R9665:Tdrd1	UTSW	19	56831140	missense	probably benign	0.04
R9747:Tdrd1	UTSW	19	56858669	missense	probably benign	0.17
R9756:Tdrd1	UTSW	19	56843230	missense	probably benign
X0020:Tdrd1	UTSW	19	56856060	missense	probably damaging	1.00
X0053:Tdrd1	UTSW	19	56865791	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GGAGGAAACAGGACCCGTTGTTTG -3'
(R):5'- ACGCCTGACACACAGCACTTTATG -3'

Sequencing Primer
(F):5'- AGGACCCGTTGTTTGCTAGG -3'
(R):5'- CTAACTGTTGGCAACTGAAGC -3'

Posted On

2014-05-09