Mutagenetix > Incidental Mutations

Incidental Mutation 'R5321:Tdrkh'

406100

Institutional Source

Beutler Lab

Gene Symbol

Tdrkh

Ensembl Gene

ENSMUSG00000041912

Gene Name

tudor and KH domain containing protein

Synonyms

2700091C21Rik, Tdrd2

MMRRC Submission

042904-MU

Accession Numbers

Genbank: NM_028307; MGI: 1919884

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94413273-94434668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94425658 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 169 (L169I)

Ref Sequence

ENSEMBL: ENSMUSP00000143102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045245] [ENSMUST00000166032] [ENSMUST00000196386] [ENSMUST00000196606] [ENSMUST00000197495] [ENSMUST00000197876] [ENSMUST00000197901] [ENSMUST00000200486]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045245
AA Change: L173I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
AA Change: L173I

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	9.32e-17	SMART
KH	123	195	3.93e-15	SMART
TUDOR	352	410	2.79e-6	SMART
low complexity region	429	434	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166032
AA Change: L173I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
AA Change: L173I

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	9.32e-17	SMART
KH	123	195	3.93e-15	SMART
TUDOR	352	410	2.79e-6	SMART
low complexity region	429	434	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196386
AA Change: D139E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143256
Gene: ENSMUSG00000041912
AA Change: D139E

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
KH	51	120	2.6e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196606
AA Change: L169I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
AA Change: L169I

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	116	1.5e-11	SMART
KH	119	191	2.4e-17	SMART
TUDOR	348	406	1.7e-8	SMART
low complexity region	425	430	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196717

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197495
AA Change: L128I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
AA Change: L128I

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	150	3e-18	SMART
TUDOR	307	365	1.7e-8	SMART
low complexity region	384	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197876

SMART Domains

Protein: ENSMUSP00000142779
Gene: ENSMUSG00000041912

Domain	Start	End	E-Value	Type
transmembrane domain	11	33	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197901
AA Change: L173I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
AA Change: L173I

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	9.32e-17	SMART
KH	123	195	3.93e-15	SMART
TUDOR	352	410	2.79e-6	SMART
low complexity region	429	434	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198111

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200486
AA Change: L173I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142584
Gene: ENSMUSG00000041912
AA Change: L173I

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
KH	51	120	5.9e-19	SMART
KH	123	195	2.4e-17	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with arrested male meiosis, massive double-strand breaks and impaired piRNA biogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,327,825	F72L	probably benign	Het
Btrc	G	A	19: 45,507,758	V211M	probably damaging	Het
Col6a5	A	T	9: 105,928,465	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,707,230	Y109C	probably benign	Het
Dlec1	T	A	9: 119,112,601	S352T	probably benign	Het
Dzip3	T	G	16: 48,957,675	T349P	possibly damaging	Het
Endou	A	G	15: 97,721,032	V37A	probably damaging	Het
Exosc1	A	T	19: 41,924,060	C129*	probably null	Het
Flywch1	C	G	17: 23,756,651	R539P	probably damaging	Het
Gm14410	G	A	2: 177,193,505	T322I	probably damaging	Het
Gm340	G	T	19: 41,585,204	W799C	probably damaging	Het
Lpin2	G	A	17: 71,246,858	V857M	probably damaging	Het
Olfr629	T	C	7: 103,740,655	N195S	probably damaging	Het
Patl1	A	G	19: 11,921,421	Q160R	probably damaging	Het
Phtf1	C	T	3: 104,003,511	T606I	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,519,170	S207G	unknown	Het
Slc15a5	G	T	6: 137,987,438	N496K	probably benign	Het
Slc17a2	A	T	13: 23,812,631	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,478,094	V945G	probably damaging	Het
Tmem59l	A	G	8: 70,487,215	C35R	probably damaging	Het
Tpte	A	T	8: 22,297,203	R33*	probably null	Het
Trpv2	T	A	11: 62,584,571	L270H	probably damaging	Het
Utp18	A	G	11: 93,866,434	L468P	probably damaging	Het
Uxs1	A	G	1: 43,805,645	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,432,442	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,956,197	L112*	probably null	Het
Vmn1r5	T	C	6: 56,985,607	L89P	probably damaging	Het
Vmn2r10	G	T	5: 108,995,639	A815E	probably damaging	Het
Zfp119a	A	T	17: 55,865,595	L416H	probably damaging	Het

Other mutations in Tdrkh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02409:Tdrkh	APN	3	94430612	unclassified	probably benign
IGL02938:Tdrkh	APN	3	94429350	unclassified	probably benign
IGL03102:Tdrkh	APN	3	94424537	missense	possibly damaging	0.77
3-1:Tdrkh	UTSW	3	94429034	unclassified	probably benign
R2352:Tdrkh	UTSW	3	94429160	missense	possibly damaging	0.77
R3957:Tdrkh	UTSW	3	94428249	missense	probably damaging	1.00
R4174:Tdrkh	UTSW	3	94428233	missense	possibly damaging	0.77
R4836:Tdrkh	UTSW	3	94425590	missense	probably damaging	1.00
R4897:Tdrkh	UTSW	3	94429364	missense	probably damaging	0.99
R5485:Tdrkh	UTSW	3	94428712	missense	probably benign	0.01
R7471:Tdrkh	UTSW	3	94425956	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAACTGGTTATGAGCCTACTCCTTTC -3'
(R):5'- CTGGTTTCTGCAGAATGGGC -3'

Sequencing Primer
(F):5'- CCTACTCCTTTCTGTAACATGGAAAG -3'
(R):5'- GAATGGGCAATTCTCTTCCGAAG -3'

Posted On

2016-07-22