Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Tdrkh'

664331

Institutional Source

Beutler Lab

Gene Symbol

Tdrkh

Ensembl Gene

ENSMUSG00000041912

Gene Name

tudor and KH domain containing protein

Synonyms

Tdrd2, 2700091C21Rik

MMRRC Submission

068625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94320580-94341975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94336440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 459 (V459D)

Ref Sequence

ENSEMBL: ENSMUSP00000041002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045245] [ENSMUST00000166032] [ENSMUST00000191506] [ENSMUST00000196386] [ENSMUST00000196606] [ENSMUST00000197495] [ENSMUST00000197876] [ENSMUST00000197901] [ENSMUST00000199678] [ENSMUST00000200486] [ENSMUST00000203883] [ENSMUST00000204548] [ENSMUST00000204913]

AlphaFold

Q80VL1

PDB Structure

Solution structure of KH domain in protein BAB28342 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045245
AA Change: V459D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
AA Change: V459D

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

probably damaging
Transcript: ENSMUST00000166032
AA Change: V459D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
AA Change: V459D

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

probably benign
Transcript: ENSMUST00000191506

SMART Domains

Protein: ENSMUSP00000139408
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	67	88	N/A	INTRINSIC
Pfam:ODC_AZ	137	233	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196386

SMART Domains

Protein: ENSMUSP00000143256
Gene: ENSMUSG00000041912

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: V455D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
AA Change: V455D

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

probably damaging
Transcript: ENSMUST00000197495
AA Change: V414D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
AA Change: V414D

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

probably damaging
Transcript: ENSMUST00000197901
AA Change: V459D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
AA Change: V459D

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

probably benign
Transcript: ENSMUST00000199678

SMART Domains

Protein: ENSMUSP00000143080
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	23	41	N/A	INTRINSIC
Pfam:ODC_AZ	90	186	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200486

SMART Domains

Protein: ENSMUSP00000142584
Gene: ENSMUSG00000041912

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203883

SMART Domains

Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:ODC_AZ	91	189	4.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204548

SMART Domains

Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204913

SMART Domains

Protein: ENSMUSP00000145113
Gene: ENSMUSG00000028141

Domain	Start	End	E-Value	Type
low complexity region	71	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204980

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,104,199 (GRCm39)		probably null	Het
Aox1	A	T	1: 58,378,763 (GRCm39)	K1004M	probably benign	Het
Atn1	C	T	6: 124,722,601 (GRCm39)		probably null	Het
Atp8b4	T	C	2: 126,184,915 (GRCm39)	Y916C	probably damaging	Het
Bicd1	T	C	6: 149,420,448 (GRCm39)	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,884,684 (GRCm39)	D223E	probably benign	Het
Bpifc	T	G	10: 85,801,129 (GRCm39)	R406S	probably damaging	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,006,926 (GRCm39)	I607N	possibly damaging	Het
Cdyl2	T	C	8: 117,321,822 (GRCm39)	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,363,117 (GRCm39)	Q163R	probably benign	Het
Cntn3	T	A	6: 102,254,277 (GRCm39)	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,952,208 (GRCm39)	V358A	probably damaging	Het
Dchs1	G	A	7: 105,420,945 (GRCm39)	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,311,298 (GRCm39)	T1808A	probably benign	Het
Dnah10	A	G	5: 124,852,410 (GRCm39)	I1880V	possibly damaging	Het
Dnai3	T	C	3: 145,752,298 (GRCm39)	T793A	probably benign	Het
Dscam	T	C	16: 96,456,106 (GRCm39)	E1274G	possibly damaging	Het
Dtwd1	A	G	2: 125,996,727 (GRCm39)	T71A	probably damaging	Het
Dusp4	T	A	8: 35,274,938 (GRCm39)	M19K	probably benign	Het
Fbxo39	T	C	11: 72,209,285 (GRCm39)	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,046,596 (GRCm39)	C455S	probably benign	Het
Fcmr	T	A	1: 130,803,799 (GRCm39)	V201E	probably benign	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gpr156	A	G	16: 37,824,974 (GRCm39)	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,443,951 (GRCm39)	V73D	probably damaging	Het
Hrob	A	G	11: 102,145,976 (GRCm39)	N84S	probably benign	Het
Laptm4b	T	C	15: 34,258,843 (GRCm39)	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Myo6	A	G	9: 80,171,481 (GRCm39)	E494G	unknown	Het
Myo7b	C	T	18: 32,114,124 (GRCm39)	D1076N	probably benign	Het
Neurl1b	A	G	17: 26,650,887 (GRCm39)	D53G	probably damaging	Het
Noc4l	A	G	5: 110,796,758 (GRCm39)	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,025,850 (GRCm39)	F157L	probably damaging	Het
Ogdh	T	C	11: 6,305,336 (GRCm39)	Y959H	probably damaging	Het
Or13c7d	T	G	4: 43,770,813 (GRCm39)	N66T	probably damaging	Het
Or4a73	A	G	2: 89,421,171 (GRCm39)	M96T	probably benign	Het
Pik3ap1	A	G	19: 41,316,599 (GRCm39)	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,404,853 (GRCm39)	Y4H	unknown	Het
Rad21	A	G	15: 51,831,749 (GRCm39)	I444T	probably benign	Het
Recql5	T	C	11: 115,787,943 (GRCm39)	I459V	probably benign	Het
Scaf1	T	C	7: 44,656,129 (GRCm39)	T917A	unknown	Het
Sdc4	C	T	2: 164,270,822 (GRCm39)	V146I	probably damaging	Het
Serpina6	T	C	12: 103,620,198 (GRCm39)	S184G	probably benign	Het
Shkbp1	C	A	7: 27,051,311 (GRCm39)	R218S	possibly damaging	Het
Slc17a3	A	G	13: 24,039,607 (GRCm39)	D255G		Het
Slc7a2	T	G	8: 41,352,267 (GRCm39)	V110G	probably damaging	Het
Slf1	A	C	13: 77,194,766 (GRCm39)	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,029,718 (GRCm39)	V102A	probably benign	Het
Sobp	T	C	10: 43,036,788 (GRCm39)	K50R	probably damaging	Het
Spink10	A	T	18: 62,786,532 (GRCm39)	R47S	probably benign	Het
Sspo	T	A	6: 48,451,206 (GRCm39)	F2720Y	probably null	Het
Tent5a	A	G	9: 85,208,803 (GRCm39)	Y7H	probably benign	Het
Tlcd2	T	A	11: 75,360,630 (GRCm39)	D224E	probably damaging	Het
Tln2	T	A	9: 67,230,304 (GRCm39)	Q87L	probably benign	Het
Tmem131	A	T	1: 36,838,186 (GRCm39)		probably benign	Het
Tmem63a	G	A	1: 180,789,961 (GRCm39)	G378R	probably benign	Het
Trank1	C	A	9: 111,219,892 (GRCm39)	Q2210K	probably benign	Het
Trim24	T	A	6: 37,934,435 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,050,675 (GRCm39)	I238N	probably damaging	Het
Vps39	A	T	2: 120,153,548 (GRCm39)	D675E	probably benign	Het
Zfp229	T	A	17: 21,964,795 (GRCm39)	C342S	probably damaging	Het
Zfp759	A	G	13: 67,288,417 (GRCm39)	H656R	probably damaging	Het
Zfp994	T	C	17: 22,419,980 (GRCm39)	Y323C	probably damaging	Het

Other mutations in Tdrkh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02409:Tdrkh	APN	3	94,337,919 (GRCm39)	unclassified	probably benign
IGL02938:Tdrkh	APN	3	94,336,657 (GRCm39)	unclassified	probably benign
IGL03102:Tdrkh	APN	3	94,331,844 (GRCm39)	missense	possibly damaging	0.77
3-1:Tdrkh	UTSW	3	94,336,341 (GRCm39)	unclassified	probably benign
R2352:Tdrkh	UTSW	3	94,336,467 (GRCm39)	missense	possibly damaging	0.77
R3957:Tdrkh	UTSW	3	94,335,556 (GRCm39)	missense	probably damaging	1.00
R4174:Tdrkh	UTSW	3	94,335,540 (GRCm39)	missense	possibly damaging	0.77
R4836:Tdrkh	UTSW	3	94,332,897 (GRCm39)	missense	probably damaging	1.00
R4897:Tdrkh	UTSW	3	94,336,671 (GRCm39)	missense	probably damaging	0.99
R5321:Tdrkh	UTSW	3	94,332,965 (GRCm39)	missense	probably damaging	0.97
R5485:Tdrkh	UTSW	3	94,336,019 (GRCm39)	missense	probably benign	0.01
R7471:Tdrkh	UTSW	3	94,333,263 (GRCm39)	missense	probably damaging	0.97
R8715:Tdrkh	UTSW	3	94,331,968 (GRCm39)	missense	probably damaging	1.00
R8725:Tdrkh	UTSW	3	94,333,299 (GRCm39)	missense	probably benign
R8727:Tdrkh	UTSW	3	94,333,299 (GRCm39)	missense	probably benign
R8912:Tdrkh	UTSW	3	94,336,478 (GRCm39)	missense	probably damaging	1.00
R9115:Tdrkh	UTSW	3	94,335,598 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACTTGCTTGGCAGTCAAATGC -3'
(R):5'- TTTGCAACTGAAATGTGGTGAG -3'

Sequencing Primer
(F):5'- AAGTGTAGTTTCAGTTTCTCTCCAG -3'
(R):5'- TGAGATGGTTAGCAGATATTCCAAAG -3'

Posted On

2021-03-08