Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Tdrd1'

669096

Institutional Source

Beutler Lab

Gene Symbol

Tdrd1

Ensembl Gene

ENSMUSG00000025081

Gene Name

tudor domain containing 1

Synonyms

MTR-1

MMRRC Submission

Accession Numbers

Genbank: NM_001002238

Essential gene?

Possibly non essential (E-score: 0.441) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56826209-56870012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56851484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 659 (S659P)

Ref Sequence

ENSEMBL: ENSMUSP00000077785 (fasta)

Gene Model

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

AlphaFold

Q99MV1

PDB Structure

Structure of extended Tudor domain TD3 from mouse TDRD1 in complex with MILI peptide containing dimethylarginine 45. [X-RAY DIFFRACTION]
Structure of extended Tudor domain TD3 from mouse TDRD1 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078723
AA Change: S659P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: S659P

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

possibly damaging
Transcript: ENSMUST00000111604
AA Change: S659P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: S659P

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

possibly damaging
Transcript: ENSMUST00000111606
AA Change: S659P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: S659P

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

possibly damaging
Transcript: ENSMUST00000121249
AA Change: S659P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: S659P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	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
R1655:Tdrd1	UTSW	19	56843216	nonsense	probably null
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
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'- CCTTTTAACGACTGTTTGTTAGGC -3'
(R):5'- CTGCTCATTTGAGTGTCACAC -3'

Sequencing Primer
(F):5'- CGTGAAGCCATCATTAGGAATTTGG -3'
(R):5'- CATTTGAGTGTCACACATTTCTGAC -3'

Posted On

2021-04-30