Mutagenetix > Incidental Mutation

Incidental Mutation 'R2286:Tdrd1'

243319

Institutional Source

Beutler Lab

Gene Symbol

Tdrd1

Ensembl Gene

ENSMUSG00000025081

Gene Name

tudor domain containing 1

Synonyms

MTR-1

MMRRC Submission

040285-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R2286 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56814641-56858444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56827551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 185 (T185A)

Ref Sequence

ENSEMBL: ENSMUSP00000112786 (fasta)

Gene Model

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

AlphaFold

Q99MV1

Predicted Effect

probably benign
Transcript: ENSMUST00000078723
AA Change: T185A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077785
Gene: ENSMUSG00000025081
AA Change: T185A

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 benign
Transcript: ENSMUST00000111604
AA Change: T185A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107231
Gene: ENSMUSG00000025081
AA Change: T185A

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 benign
Transcript: ENSMUST00000111606
AA Change: T185A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107233
Gene: ENSMUSG00000025081
AA Change: T185A

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 benign
Transcript: ENSMUST00000121249
AA Change: T185A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112786
Gene: ENSMUSG00000025081
AA Change: T185A

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: 98.5%
10x: 97.2%
20x: 94.8%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,195,616 (GRCm39)	R308H	probably damaging	Het
Alox5ap	G	A	5: 149,222,240 (GRCm39)		probably null	Het
Ap2s1	T	C	7: 16,482,901 (GRCm39)	V131A	possibly damaging	Het
Cdr2l	GAA	GA	11: 115,283,626 (GRCm39)		probably null	Het
Cpsf7	T	C	19: 10,512,660 (GRCm39)	L248P	probably damaging	Het
Dtd1	T	C	2: 144,477,786 (GRCm39)		probably null	Het
Eci1	A	G	17: 24,652,203 (GRCm39)	D75G	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Luc7l	A	G	17: 26,499,020 (GRCm39)		probably benign	Het
Med13	A	C	11: 86,210,515 (GRCm39)	D542E	probably benign	Het
Myo6	T	C	9: 80,173,494 (GRCm39)	S545P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Or4k37	A	G	2: 111,159,252 (GRCm39)	I163V	probably benign	Het
Rsad2	T	A	12: 26,500,675 (GRCm39)	N204I	probably benign	Het
Setd5	T	G	6: 113,096,571 (GRCm39)	N592K	possibly damaging	Het
Sgip1	G	T	4: 102,724,844 (GRCm39)	S59I	possibly damaging	Het
Slc39a5	A	G	10: 128,231,929 (GRCm39)	V532A	probably benign	Het
Smarcc2	G	A	10: 128,299,612 (GRCm39)	M123I	possibly damaging	Het
Tnn	T	C	1: 159,938,079 (GRCm39)	E1146G	possibly damaging	Het
Unc13a	T	C	8: 72,083,203 (GRCm39)	K1618E	probably damaging	Het
Vmn2r120	A	G	17: 57,815,958 (GRCm39)	L799P	probably damaging	Het
Vps26c	C	T	16: 94,313,112 (GRCm39)	E60K	possibly damaging	Het

Other mutations in Tdrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Tdrd1	APN	19	56,839,896 (GRCm39)	missense	possibly damaging	0.51
IGL01366:Tdrd1	APN	19	56,843,734 (GRCm39)	missense	probably benign	0.00
IGL01569:Tdrd1	APN	19	56,822,841 (GRCm39)	missense	probably damaging	1.00
IGL02691:Tdrd1	APN	19	56,832,284 (GRCm39)	missense	probably damaging	0.99
3-1:Tdrd1	UTSW	19	56,850,127 (GRCm39)	missense	probably benign
R0081:Tdrd1	UTSW	19	56,819,703 (GRCm39)	missense	probably benign	0.16
R0139:Tdrd1	UTSW	19	56,831,630 (GRCm39)	missense	probably benign	0.00
R0254:Tdrd1	UTSW	19	56,830,998 (GRCm39)	missense	probably benign	0.02
R0686:Tdrd1	UTSW	19	56,844,483 (GRCm39)	missense	probably damaging	1.00
R0735:Tdrd1	UTSW	19	56,854,410 (GRCm39)	nonsense	probably null
R0740:Tdrd1	UTSW	19	56,827,531 (GRCm39)	missense	probably damaging	1.00
R1241:Tdrd1	UTSW	19	56,850,192 (GRCm39)	missense	probably benign
R1294:Tdrd1	UTSW	19	56,837,208 (GRCm39)	splice site	probably null
R1508:Tdrd1	UTSW	19	56,839,790 (GRCm39)	missense	probably damaging	1.00
R1655:Tdrd1	UTSW	19	56,831,648 (GRCm39)	nonsense	probably null
R1708:Tdrd1	UTSW	19	56,830,721 (GRCm39)	missense	probably benign	0.13
R1796:Tdrd1	UTSW	19	56,826,215 (GRCm39)	missense	probably damaging	0.98
R1840:Tdrd1	UTSW	19	56,830,744 (GRCm39)	missense	probably damaging	1.00
R2138:Tdrd1	UTSW	19	56,831,021 (GRCm39)	missense	probably benign	0.30
R2201:Tdrd1	UTSW	19	56,847,094 (GRCm39)	missense	probably benign	0.00
R2201:Tdrd1	UTSW	19	56,847,093 (GRCm39)	missense	probably benign	0.14
R2443:Tdrd1	UTSW	19	56,829,786 (GRCm39)	missense	probably null	0.01
R3001:Tdrd1	UTSW	19	56,850,182 (GRCm39)	nonsense	probably null
R3002:Tdrd1	UTSW	19	56,850,182 (GRCm39)	nonsense	probably null
R3418:Tdrd1	UTSW	19	56,819,663 (GRCm39)	missense	possibly damaging	0.87
R3419:Tdrd1	UTSW	19	56,819,663 (GRCm39)	missense	possibly damaging	0.87
R3707:Tdrd1	UTSW	19	56,854,425 (GRCm39)	missense	possibly damaging	0.86
R3978:Tdrd1	UTSW	19	56,855,066 (GRCm39)	missense	probably benign	0.01
R4077:Tdrd1	UTSW	19	56,819,505 (GRCm39)	missense	probably benign	0.22
R4083:Tdrd1	UTSW	19	56,831,662 (GRCm39)	missense	probably benign
R4193:Tdrd1	UTSW	19	56,839,773 (GRCm39)	nonsense	probably null
R5882:Tdrd1	UTSW	19	56,837,371 (GRCm39)	missense	probably damaging	1.00
R6073:Tdrd1	UTSW	19	56,831,655 (GRCm39)	nonsense	probably null
R6223:Tdrd1	UTSW	19	56,854,282 (GRCm39)	missense	probably damaging	1.00
R6240:Tdrd1	UTSW	19	56,829,767 (GRCm39)	missense	probably benign	0.00
R6953:Tdrd1	UTSW	19	56,819,803 (GRCm39)	missense	probably damaging	0.98
R7090:Tdrd1	UTSW	19	56,839,833 (GRCm39)	missense	probably benign	0.28
R7643:Tdrd1	UTSW	19	56,826,140 (GRCm39)	missense	probably damaging	1.00
R7793:Tdrd1	UTSW	19	56,852,809 (GRCm39)	missense	probably damaging	0.99
R7972:Tdrd1	UTSW	19	56,837,134 (GRCm39)	missense	probably damaging	0.98
R7993:Tdrd1	UTSW	19	56,854,437 (GRCm39)	splice site	probably null
R8076:Tdrd1	UTSW	19	56,832,267 (GRCm39)	missense	probably damaging	0.96
R8346:Tdrd1	UTSW	19	56,830,699 (GRCm39)	missense	probably benign	0.44
R8400:Tdrd1	UTSW	19	56,837,081 (GRCm39)	missense	probably benign	0.05
R8553:Tdrd1	UTSW	19	56,831,584 (GRCm39)	missense	probably damaging	0.99
R8701:Tdrd1	UTSW	19	56,839,916 (GRCm39)	missense	possibly damaging	0.94
R8772:Tdrd1	UTSW	19	56,843,760 (GRCm39)	missense	probably damaging	0.99
R8906:Tdrd1	UTSW	19	56,831,145 (GRCm39)	missense	probably damaging	0.99
R9222:Tdrd1	UTSW	19	56,831,679 (GRCm39)	missense	probably benign	0.38
R9321:Tdrd1	UTSW	19	56,848,767 (GRCm39)	missense	probably damaging	1.00
R9665:Tdrd1	UTSW	19	56,819,572 (GRCm39)	missense	probably benign	0.04
R9747:Tdrd1	UTSW	19	56,847,101 (GRCm39)	missense	probably benign	0.17
R9756:Tdrd1	UTSW	19	56,831,662 (GRCm39)	missense	probably benign
X0020:Tdrd1	UTSW	19	56,844,492 (GRCm39)	missense	probably damaging	1.00
X0053:Tdrd1	UTSW	19	56,854,223 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CAGCTGCGTACAGTGTCTGAAC -3'
(R):5'- TGCTATGCAATACCGTGTACA -3'

Sequencing Primer
(F):5'- CATCGAGTTCCTTGGAGCAAG -3'
(R):5'- ATAACTCGGGCCTGCTTAAG -3'

Posted On

2014-10-16