Mutagenetix > Incidental Mutation

Incidental Mutation 'R8912:Tdrkh'

678671

Institutional Source

Beutler Lab

Gene Symbol

Tdrkh

Ensembl Gene

ENSMUSG00000041912

Gene Name

tudor and KH domain containing protein

Synonyms

Tdrd2, 2700091C21Rik

MMRRC Submission

068765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94320580-94341975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94336478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 472 (Y472H)

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: Y472H

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

SMART Domains

Protein: ENSMUSP00000041002
Gene: ENSMUSG00000041912
AA Change: Y472H

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: Y472H

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

SMART Domains

Protein: ENSMUSP00000129635
Gene: ENSMUSG00000041912
AA Change: Y472H

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: Y468H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143102
Gene: ENSMUSG00000041912
AA Change: Y468H

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: Y427H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143135
Gene: ENSMUSG00000041912
AA Change: Y427H

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: Y472H

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

SMART Domains

Protein: ENSMUSP00000142561
Gene: ENSMUSG00000041912
AA Change: Y472H

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	C	T	5: 113,861,767 (GRCm39)	W34*	probably null	Het
Adck5	T	C	15: 76,477,435 (GRCm39)	S90P	probably damaging	Het
Adgra3	C	A	5: 50,118,273 (GRCm39)	A1092S	possibly damaging	Het
Arhgap33	A	T	7: 30,232,467 (GRCm39)		probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,979 (GRCm39)		probably null	Het
Brd2	A	T	17: 34,332,458 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,260,097 (GRCm39)		probably benign	Het
Ciao1	A	G	2: 127,088,599 (GRCm39)	V108A	possibly damaging	Het
Clba1	T	C	12: 112,779,323 (GRCm39)	V320A	possibly damaging	Het
Dnah3	T	A	7: 119,689,869 (GRCm39)	H22L	probably benign	Het
Dnajc6	A	G	4: 101,468,513 (GRCm39)	Y251C	probably damaging	Het
Dsg2	T	A	18: 20,715,878 (GRCm39)	N273K	probably damaging	Het
Egf	A	G	3: 129,531,164 (GRCm39)	V137A	possibly damaging	Het
Ercc6	C	T	14: 32,248,211 (GRCm39)	P254L	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fbln2	A	G	6: 91,240,420 (GRCm39)	E789G	possibly damaging	Het
Fbxl13	T	G	5: 21,727,184 (GRCm39)	D571A	probably damaging	Het
Fbxw26	T	A	9: 109,561,717 (GRCm39)	E159V	probably damaging	Het
Fndc1	T	C	17: 8,019,778 (GRCm39)	I134V	probably null	Het
Fsip2	A	G	2: 82,810,938 (GRCm39)	D2419G	probably benign	Het
Gm3371	T	C	14: 44,641,238 (GRCm39)	K109E		Het
Gm5414	A	G	15: 101,536,620 (GRCm39)	S2P	possibly damaging	Het
Igkv1-110	G	T	6: 68,247,950 (GRCm39)	D20Y	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ippk	A	G	13: 49,603,513 (GRCm39)	D422G	probably damaging	Het
Irs2	A	T	8: 11,056,655 (GRCm39)	D592E	probably damaging	Het
Klra9	A	G	6: 130,159,368 (GRCm39)	I215T	probably damaging	Het
Lrrc8b	T	A	5: 105,629,424 (GRCm39)	L590Q	probably damaging	Het
Myh10	A	G	11: 68,680,929 (GRCm39)		probably null	Het
Neto1	A	G	18: 86,479,173 (GRCm39)	D159G	probably damaging	Het
Nr1d2	T	C	14: 18,220,030 (GRCm38)	K104E	probably damaging	Het
Nrcam	T	C	12: 44,645,366 (GRCm39)	V1256A	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Or13e8	T	A	4: 43,697,017 (GRCm39)	D52V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Or9m1b	C	T	2: 87,836,661 (GRCm39)	A145T	possibly damaging	Het
Patj	A	G	4: 98,385,565 (GRCm39)	H444R		Het
Pclo	T	C	5: 14,825,335 (GRCm39)	L1356P		Het
Pde4dip	A	G	3: 97,617,633 (GRCm39)	S1732P	probably damaging	Het
Pi4ka	A	T	16: 17,207,230 (GRCm39)	I25N		Het
Pira13	A	T	7: 3,825,818 (GRCm39)	D350E	unknown	Het
Pou2f3	C	A	9: 43,110,336 (GRCm39)	V30L	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Reck	T	A	4: 43,938,802 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,475,323 (GRCm39)		probably benign	Het
Serinc1	A	C	10: 57,400,075 (GRCm39)	S191A	probably benign	Het
Sgo2a	T	C	1: 58,056,560 (GRCm39)	S915P	probably damaging	Het
Sgsh	T	C	11: 119,243,486 (GRCm39)	T79A	probably damaging	Het
Sik1	A	G	17: 32,069,919 (GRCm39)	V207A	possibly damaging	Het
Skap1	A	T	11: 96,644,902 (GRCm39)	I338F	probably damaging	Het
Skic3	T	A	13: 76,305,361 (GRCm39)		probably benign	Het
Sowahc	G	T	10: 59,057,813 (GRCm39)		probably benign	Het
Spata31d1d	T	C	13: 59,875,136 (GRCm39)	K800E	possibly damaging	Het
Spin1	T	A	13: 51,298,433 (GRCm39)	W151R	probably damaging	Het
Srfbp1	A	G	18: 52,623,686 (GRCm39)	T438A	possibly damaging	Het
Srrm2	A	G	17: 24,038,575 (GRCm39)	T1740A	probably benign	Het
Tacr1	A	T	6: 82,534,014 (GRCm39)	S347C	probably damaging	Het
Taf1b	T	C	12: 24,566,860 (GRCm39)	S185P	possibly damaging	Het
Tanc2	C	T	11: 105,758,153 (GRCm39)	T638I	probably benign	Het
Trav4-2	C	G	14: 53,656,266 (GRCm39)	Y89*	probably null	Het
Trpm1	G	T	7: 63,918,628 (GRCm39)	R1540L	probably benign	Het
Ttc21a	T	C	9: 119,770,367 (GRCm39)		probably null	Het
Tti1	A	G	2: 157,851,188 (GRCm39)	V17A	probably benign	Het
Vamp8	A	G	6: 72,365,276 (GRCm39)	L44P	probably benign	Het
Vmn1r63	G	T	7: 5,806,131 (GRCm39)	S167Y	probably damaging	Het
Xrn2	T	C	2: 146,891,913 (GRCm39)	V710A	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfyve28	T	C	5: 34,374,655 (GRCm39)	D453G	probably benign	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
R8770:Tdrkh	UTSW	3	94,336,440 (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'- CTTATCTGCTCTGAGGCTCAGC -3'
(R):5'- GTTCAACTGCATACCCTTTACG -3'

Sequencing Primer
(F):5'- AGACTCACTCACTGTGCT -3'
(R):5'- ACTGCATACCCTTTACGAACTAATTC -3'

Posted On

2021-08-02