Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Tdrd1'

504175

Institutional Source

Beutler Lab

Gene Symbol

Tdrd1

Ensembl Gene

ENSMUSG00000025081

Gene Name

tudor domain containing 1

Synonyms

MTR-1

MMRRC Submission

044354-MU

Accession Numbers

Genbank: NM_001002238

Is this an essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R6223 (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 56865850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1076 (V1076A)

Ref Sequence

ENSEMBL: ENSMUSP00000112786 (fasta)

Gene Model

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

AlphaFold

Q99MV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000078723
AA Change: V1076A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: V1076A

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 damaging
Transcript: ENSMUST00000111604
AA Change: V1076A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: V1076A

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 damaging
Transcript: ENSMUST00000111606
AA Change: V1076A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: V1076A

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 damaging
Transcript: ENSMUST00000121249
AA Change: V1076A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: V1076A

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,427,953	R8S	probably benign	Het
Abca8b	A	G	11: 109,977,846	V164A	probably benign	Het
Acadm	C	A	3: 153,938,549		probably null	Het
Ap3b2	G	A	7: 81,473,462	R435*	probably null	Het
Art2b	A	G	7: 101,579,951	F247S	possibly damaging	Het
C1rb	T	A	6: 124,574,580	D216E	probably benign	Het
Casz1	C	A	4: 148,933,383	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cdc25a	C	A	9: 109,889,774	P409T	possibly damaging	Het
Cidea	A	C	18: 67,358,739	K23T	possibly damaging	Het
Clspn	T	A	4: 126,586,168	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,395,187	D385V	probably damaging	Het
Crat	C	T	2: 30,407,030	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,791,717	W265R	probably benign	Het
Dock8	A	T	19: 25,161,052	Y1247F	probably benign	Het
Eed	A	G	7: 89,956,287	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,015,110	F73L	probably benign	Het
Fbn1	C	T	2: 125,412,671	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,429,605	F684L	probably damaging	Het
Glrp1	G	A	1: 88,503,442	Q69*	probably null	Het
Gm29797	T	C	2: 181,659,057	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,676,625	R543K	probably benign	Het
Ifih1	T	C	2: 62,598,259	I891V	probably benign	Het
Ifnar2	C	T	16: 91,387,988	T89M	probably damaging	Het
Kat6a	C	A	8: 22,940,426	N1932K	unknown	Het
Mgat5	A	T	1: 127,382,979	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,871,702		probably null	Het
Myh3	G	T	11: 67,098,017	V1499L	probably benign	Het
Ncan	A	C	8: 70,109,954	D551E	probably benign	Het
Nol11	G	T	11: 107,171,616	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,736,460	R202W	probably damaging	Het
Olfr1362	G	A	13: 21,611,366	T201I	probably benign	Het
Olfr1509	A	G	14: 52,450,679	R89G	probably benign	Het
Pcdh9	T	C	14: 93,015,733	K1131E	probably benign	Het
Pcolce	A	G	5: 137,605,299	M424T	probably damaging	Het
Pi16	C	A	17: 29,327,439	S397*	probably null	Het
Pi4ka	A	T	16: 17,357,571	Y464*	probably null	Het
Pik3c2b	T	A	1: 133,070,357	L324M	probably damaging	Het
Prdm2	T	C	4: 143,142,207	N179S	probably benign	Het
Prss56	C	T	1: 87,185,412	P183S	probably benign	Het
Prx	T	G	7: 27,516,836	M393R	probably damaging	Het
Qpctl	T	C	7: 19,143,209	D328G	probably damaging	Het
Qser1	A	G	2: 104,787,648	S940P	probably benign	Het
Rchy1	G	A	5: 91,957,967	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,823,948	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,379,026	V388A	probably benign	Het
Ssu2	G	T	6: 112,376,448	C238*	probably null	Het
Stub1	C	T	17: 25,832,813	G14D	probably damaging	Het
Tab1	T	A	15: 80,148,263	C24S	probably damaging	Het
Tex10	T	C	4: 48,468,525	R134G	probably damaging	Het
Tg	T	A	15: 66,707,922	N1525K	probably benign	Het
Tll2	G	A	19: 41,135,952	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,500,196	M1V	probably null	Het
Ttc7b	A	G	12: 100,387,109		probably null	Het
Ubb	A	G	11: 62,552,525	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,787,504	Y796*	probably null	Het
Vdac2	G	A	14: 21,845,178	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,483,302	V329E	probably benign	Het
Wdr60	T	C	12: 116,257,458	D11G	possibly damaging	Het
Zfp651	G	A	9: 121,763,787	R391Q	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
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
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'- TAAGCCTCGGTAGTGCATGG -3'
(R):5'- CTCTGCTGTGTATTACGCTTAAG -3'

Sequencing Primer
(F):5'- TAGTGACTGGCAACCACCTGTATG -3'
(R):5'- CGCTTAAGAAAGTACCTTTAGTGG -3'

Posted On

2018-02-28