Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03102:Tdrkh'

418756

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdrkh

Ensembl Gene

ENSMUSG00000041912

Gene Name

tudor and KH domain containing protein

Synonyms

Tdrd2, 2700091C21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03102

Quality Score

Status

Chromosome

Chromosomal Location

94320580-94341975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94331844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 90 (T90S)

Ref Sequence

ENSEMBL: ENSMUSP00000142584 (fasta)

Gene Model

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

AlphaFold

Q80VL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045245
AA Change: T90S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
AA Change: T90S

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: T90S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
AA Change: T90S

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: T90S

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143256
Gene: ENSMUSG00000041912
AA Change: T90S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196606
AA Change: T86S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
AA Change: T86S

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: T90S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
AA Change: T90S

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: ENSMUST00000200486
AA Change: T90S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142584
Gene: ENSMUSG00000041912
AA Change: T90S

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

possibly damaging
Transcript: ENSMUST00000197901
AA Change: T90S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
AA Change: T90S

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

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,744,804 (GRCm39)		probably null	Het
Alyref	G	A	11: 120,488,591 (GRCm39)	P79L	possibly damaging	Het
Arhgap28	T	C	17: 68,203,231 (GRCm39)	D74G	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdc5l	A	T	17: 45,718,857 (GRCm39)	D586E	probably damaging	Het
Chd3	G	T	11: 69,252,022 (GRCm39)	Y79*	probably null	Het
Cnot3	C	A	7: 3,659,155 (GRCm39)	S467*	probably null	Het
Col18a1	A	T	10: 76,903,457 (GRCm39)		probably benign	Het
Col19a1	C	A	1: 24,367,134 (GRCm39)	G483C	probably damaging	Het
Col5a3	A	C	9: 20,715,931 (GRCm39)		probably null	Het
Dctn5	A	T	7: 121,732,382 (GRCm39)	N9I	probably benign	Het
Emc10	T	A	7: 44,141,413 (GRCm39)	N225I	probably damaging	Het
Fam219b	A	G	9: 57,447,981 (GRCm39)	Y158C	probably damaging	Het
Fras1	T	C	5: 96,874,394 (GRCm39)	V2273A	probably benign	Het
Frem3	T	A	8: 81,339,661 (GRCm39)	H651Q	possibly damaging	Het
Gm4076	T	A	13: 85,275,438 (GRCm39)		noncoding transcript	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Ifnab	T	G	4: 88,609,062 (GRCm39)	T135P	possibly damaging	Het
Jag1	T	C	2: 136,926,608 (GRCm39)	I979V	probably benign	Het
Kank1	G	T	19: 25,403,282 (GRCm39)	M1097I	probably damaging	Het
Kcnq3	A	G	15: 65,900,637 (GRCm39)	V206A	probably damaging	Het
Kel	T	C	6: 41,679,917 (GRCm39)	K91R	probably benign	Het
Kirrel1	G	T	3: 86,990,807 (GRCm39)	R672S	probably damaging	Het
Kmt2d	A	G	15: 98,753,424 (GRCm39)	M143T	probably benign	Het
Kpna1	A	G	16: 35,833,289 (GRCm39)	I122V	probably damaging	Het
Lrpap1	A	G	5: 35,250,694 (GRCm39)	S353P	probably damaging	Het
Mtfr1l	T	A	4: 134,259,543 (GRCm39)	Q11L	probably damaging	Het
Muc5b	G	A	7: 141,416,806 (GRCm39)	V3251M	probably benign	Het
Mup8	C	T	4: 60,219,746 (GRCm39)	D174N	probably benign	Het
Nup155	A	T	15: 8,176,768 (GRCm39)	E1015D	probably benign	Het
Or10ak14	C	A	4: 118,611,131 (GRCm39)	L201F	probably benign	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
P2rx7	T	C	5: 122,801,668 (GRCm39)	F188L	possibly damaging	Het
Pacrg	A	G	17: 11,058,719 (GRCm39)	F13L	probably benign	Het
Palb2	A	T	7: 121,723,722 (GRCm39)	S676T	possibly damaging	Het
Pdia6	T	A	12: 17,331,040 (GRCm39)		probably null	Het
Pfkm	A	T	15: 98,024,266 (GRCm39)	I425F	possibly damaging	Het
Pikfyve	C	T	1: 65,291,626 (GRCm39)	R1282*	probably null	Het
Pole	C	T	5: 110,444,939 (GRCm39)	L432F	probably damaging	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prr5	G	T	15: 84,650,508 (GRCm39)		probably benign	Het
Prxl2b	T	C	4: 154,981,058 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,883,487 (GRCm39)	Y343H	probably damaging	Het
Ptprj	C	T	2: 90,309,312 (GRCm39)	R51K	probably benign	Het
Qars1	A	G	9: 108,386,118 (GRCm39)	D103G	probably benign	Het
Rims2	A	T	15: 39,322,989 (GRCm39)	I768F	possibly damaging	Het
Robo4	T	A	9: 37,315,481 (GRCm39)	V275E	probably damaging	Het
Ryr2	A	G	13: 11,650,468 (GRCm39)		probably benign	Het
Sez6l	T	C	5: 112,623,269 (GRCm39)	H94R	probably benign	Het
Slco1c1	T	A	6: 141,490,553 (GRCm39)	N211K	possibly damaging	Het
Strbp	T	C	2: 37,476,515 (GRCm39)		probably benign	Het
Tceanc2	T	A	4: 107,004,878 (GRCm39)	H90L	probably damaging	Het
Tiam2	A	G	17: 3,559,823 (GRCm39)	D1288G	probably damaging	Het
Tln1	T	C	4: 43,532,861 (GRCm39)	D2447G	possibly damaging	Het
Tmem63c	G	A	12: 87,112,323 (GRCm39)	V141M	probably benign	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Tprkb	T	A	6: 85,901,400 (GRCm39)	C13S	probably benign	Het
Traf3ip3	T	C	1: 192,877,385 (GRCm39)	T184A	probably damaging	Het
Trpc6	T	A	9: 8,649,302 (GRCm39)	M504K	probably benign	Het
Ttn	G	T	2: 76,597,567 (GRCm39)	S18036*	probably null	Het
Wdfy4	A	T	14: 32,688,392 (GRCm39)	C2914S	probably damaging	Het
Ylpm1	T	A	12: 85,096,032 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,785,134 (GRCm39)	H471R	probably damaging	Het
Zfp747l1	T	C	7: 126,983,951 (GRCm39)	T384A	probably benign	Het
Zfyve16	C	T	13: 92,648,325 (GRCm39)	E910K	possibly 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
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
R8770:Tdrkh	UTSW	3	94,336,440 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02