Mutagenetix > Incidental Mutation

Incidental Mutation 'R0107:Tlk1'

33300

Institutional Source

Beutler Lab

Gene Symbol

Tlk1

Ensembl Gene

ENSMUSG00000041997

Gene Name

tousled-like kinase 1

Synonyms

4930545J15Rik

MMRRC Submission

038393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0107 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

70542751-70656072 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 70544333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 767 (*767W)

Ref Sequence

ENSEMBL: ENSMUSP00000035961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038584] [ENSMUST00000133432]

AlphaFold

Q8C0V0

Predicted Effect

probably null
Transcript: ENSMUST00000038584
AA Change: *767W

SMART Domains

Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: *767W

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
low complexity region	68	85	N/A	INTRINSIC
low complexity region	170	192	N/A	INTRINSIC
coiled coil region	248	277	N/A	INTRINSIC
coiled coil region	403	441	N/A	INTRINSIC
S_TKc	456	734	4.41e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133432

SMART Domains

Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959

Domain	Start	End	E-Value	Type
PDZ	5	75	8.14e-1	SMART
internal_repeat_1	107	196	1.1e-15	PROSPERO
low complexity region	236	252	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152738

Meta Mutation Damage Score

0.8819

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.6%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,737 (GRCm39)	L397I	possibly damaging	Het
Abca1	A	G	4: 53,080,834 (GRCm39)	V825A	probably benign	Het
Adamts7	T	C	9: 90,062,773 (GRCm39)	I409T	possibly damaging	Het
Adck1	T	C	12: 88,413,426 (GRCm39)	W253R	possibly damaging	Het
Afg3l2	A	G	18: 67,564,836 (GRCm39)	F213L	probably damaging	Het
Ankle2	T	C	5: 110,400,893 (GRCm39)	V743A	probably benign	Het
Ankrd34c	C	T	9: 89,611,537 (GRCm39)	R268H	probably benign	Het
Arb2a	A	G	13: 78,050,933 (GRCm39)	D145G	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc7b	T	G	8: 129,904,678 (GRCm39)		probably benign	Het
Cd320	A	T	17: 34,067,059 (GRCm39)	M169L	probably benign	Het
Chn1	A	G	2: 73,445,028 (GRCm39)	Y338H	probably damaging	Het
Chuk	T	A	19: 44,085,358 (GRCm39)	S263C	probably damaging	Het
Dennd4b	C	A	3: 90,180,043 (GRCm39)	P663T	possibly damaging	Het
Dnajc24	T	G	2: 105,832,259 (GRCm39)		probably benign	Het
Fbn2	A	G	18: 58,189,275 (GRCm39)	V1617A	probably benign	Het
Fermt2	T	C	14: 45,702,279 (GRCm39)	N502D	probably damaging	Het
Frrs1	A	T	3: 116,690,365 (GRCm39)	I3F	probably damaging	Het
Fut1	C	A	7: 45,268,270 (GRCm39)	Q20K	possibly damaging	Het
Gbf1	T	C	19: 46,273,267 (GRCm39)	V1709A	probably benign	Het
Gfra3	G	T	18: 34,844,359 (GRCm39)	H60Q	probably benign	Het
Gm10750	T	A	2: 148,857,973 (GRCm39)	M93L	unknown	Het
Hmcn1	T	A	1: 150,462,766 (GRCm39)	I5124L	probably benign	Het
Hps3	A	C	3: 20,084,960 (GRCm39)	L76R	probably damaging	Het
Ifrd1	T	A	12: 40,264,080 (GRCm39)	Q105L	probably damaging	Het
Irs2	A	T	8: 11,054,691 (GRCm39)	V1247E	probably damaging	Het
Itgal	T	C	7: 126,927,731 (GRCm39)		probably benign	Het
Ivns1abp	A	T	1: 151,237,321 (GRCm39)	N495I	probably damaging	Het
Kank1	T	A	19: 25,407,730 (GRCm39)		probably benign	Het
Mroh8	T	C	2: 157,067,388 (GRCm39)	Q657R	probably benign	Het
Mthfd1l	T	C	10: 3,991,838 (GRCm39)	Y597H	probably benign	Het
Myom1	G	A	17: 71,384,360 (GRCm39)	V692I	probably damaging	Het
Or13a17	A	T	7: 140,271,258 (GRCm39)	M147L	probably benign	Het
Or1j18	T	G	2: 36,624,730 (GRCm39)	Y132*	probably null	Het
Or7g20	A	G	9: 18,946,629 (GRCm39)	D70G	probably damaging	Het
Palmd	A	T	3: 116,717,725 (GRCm39)	H257Q	probably damaging	Het
Pcnx2	A	T	8: 126,480,325 (GRCm39)	V1994D	probably benign	Het
Phkb	G	A	8: 86,743,560 (GRCm39)	G553S	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Ptprn	A	T	1: 75,232,356 (GRCm39)	L453M	probably damaging	Het
Ptprz1	T	A	6: 23,000,569 (GRCm39)	D886E	probably damaging	Het
Rcn1	T	A	2: 105,225,126 (GRCm39)	I110F	possibly damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Slc6a19	A	G	13: 73,832,176 (GRCm39)	Y467H	possibly damaging	Het
Slc9c1	T	A	16: 45,395,783 (GRCm39)	D611E	probably benign	Het
Slitrk6	T	C	14: 110,989,395 (GRCm39)	E104G	possibly damaging	Het
Spag17	A	T	3: 99,958,103 (GRCm39)	K920N	possibly damaging	Het
St3gal5	A	G	6: 72,119,133 (GRCm39)	S82G	probably benign	Het
Tln2	A	G	9: 67,277,988 (GRCm39)	V342A	probably damaging	Het
Tmem104	T	A	11: 115,093,006 (GRCm39)	M132K	probably damaging	Het
Tmem184c	A	G	8: 78,323,702 (GRCm39)	S387P	possibly damaging	Het
Tmtc1	A	G	6: 148,327,411 (GRCm39)	V34A	possibly damaging	Het
Trim46	A	G	3: 89,143,640 (GRCm39)	F596S	probably damaging	Het
Unc79	T	A	12: 103,100,784 (GRCm39)	D1870E	possibly damaging	Het
Utp20	T	C	10: 88,614,253 (GRCm39)	T1234A	probably benign	Het
Vmn1r31	T	A	6: 58,449,728 (GRCm39)	T46S	probably benign	Het
Vps13a	A	T	19: 16,669,188 (GRCm39)	L1341Q	probably benign	Het
Wdr72	A	T	9: 74,117,715 (GRCm39)	D821V	probably damaging	Het
Zfhx4	T	C	3: 5,464,042 (GRCm39)	L1400P	probably damaging	Het
Zfp217	T	A	2: 169,956,794 (GRCm39)	K735*	probably null	Het
Zfp235	A	G	7: 23,836,541 (GRCm39)	Q29R	probably damaging	Het
Zfp628	A	G	7: 4,923,167 (GRCm39)	Y463C	probably damaging	Het
Zkscan4	A	G	13: 21,668,751 (GRCm39)	T401A	possibly damaging	Het

Other mutations in Tlk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Tlk1	APN	2	70,575,860 (GRCm39)	missense	probably damaging	1.00
IGL01087:Tlk1	APN	2	70,582,660 (GRCm39)	missense	possibly damaging	0.64
IGL01514:Tlk1	APN	2	70,582,610 (GRCm39)	missense	probably benign	0.00
IGL02976:Tlk1	APN	2	70,551,935 (GRCm39)	nonsense	probably null
IGL03024:Tlk1	APN	2	70,576,380 (GRCm39)	nonsense	probably null
Aku-aku	UTSW	2	70,568,789 (GRCm39)	missense	probably damaging	0.98
Heyerdahl	UTSW	2	70,568,770 (GRCm39)	nonsense	probably null
K3955:Tlk1	UTSW	2	70,552,045 (GRCm39)	missense	possibly damaging	0.85
R0226:Tlk1	UTSW	2	70,544,513 (GRCm39)	unclassified	probably benign
R0332:Tlk1	UTSW	2	70,575,909 (GRCm39)	splice site	probably null
R0601:Tlk1	UTSW	2	70,544,502 (GRCm39)	missense	probably benign	0.44
R1739:Tlk1	UTSW	2	70,551,421 (GRCm39)	missense	probably damaging	1.00
R2080:Tlk1	UTSW	2	70,568,789 (GRCm39)	missense	probably damaging	0.98
R2422:Tlk1	UTSW	2	70,600,349 (GRCm39)	missense	probably damaging	1.00
R3843:Tlk1	UTSW	2	70,579,671 (GRCm39)	missense	probably benign	0.05
R3970:Tlk1	UTSW	2	70,546,996 (GRCm39)	missense	probably damaging	1.00
R4191:Tlk1	UTSW	2	70,555,891 (GRCm39)	missense	probably damaging	1.00
R4867:Tlk1	UTSW	2	70,551,915 (GRCm39)	nonsense	probably null
R5022:Tlk1	UTSW	2	70,572,409 (GRCm39)	missense	probably benign	0.10
R5275:Tlk1	UTSW	2	70,582,549 (GRCm39)	intron	probably benign
R5469:Tlk1	UTSW	2	70,552,012 (GRCm39)	missense	probably benign	0.15
R6531:Tlk1	UTSW	2	70,572,427 (GRCm39)	missense	probably benign	0.00
R6592:Tlk1	UTSW	2	70,544,497 (GRCm39)	missense	probably damaging	1.00
R6797:Tlk1	UTSW	2	70,568,770 (GRCm39)	nonsense	probably null
R7030:Tlk1	UTSW	2	70,552,272 (GRCm39)	missense	probably damaging	1.00
R7705:Tlk1	UTSW	2	70,617,016 (GRCm39)	splice site	probably null
R7970:Tlk1	UTSW	2	70,582,644 (GRCm39)	missense	possibly damaging	0.64
R8284:Tlk1	UTSW	2	70,544,365 (GRCm39)	missense	probably benign
R8765:Tlk1	UTSW	2	70,582,581 (GRCm39)	missense	probably benign	0.20
R9004:Tlk1	UTSW	2	70,552,290 (GRCm39)	missense	probably damaging	1.00
R9059:Tlk1	UTSW	2	70,617,277 (GRCm39)	missense	possibly damaging	0.65
R9114:Tlk1	UTSW	2	70,572,502 (GRCm39)	missense	probably benign	0.20
R9408:Tlk1	UTSW	2	70,617,219 (GRCm39)	critical splice donor site	probably null
R9464:Tlk1	UTSW	2	70,544,341 (GRCm39)	missense	probably benign	0.00
R9622:Tlk1	UTSW	2	70,617,281 (GRCm39)	missense	probably damaging	1.00
R9768:Tlk1	UTSW	2	70,600,400 (GRCm39)	missense	probably damaging	0.99
R9776:Tlk1	UTSW	2	70,555,908 (GRCm39)	missense	probably damaging	1.00
X0028:Tlk1	UTSW	2	70,576,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGGTATTCCTGTTTCGTGCTGC -3'
(R):5'- CTGATTGAGCCTATGATGTGCCCG -3'

Sequencing Primer
(F):5'- TGCTCCAGGGCAGTGAG -3'
(R):5'- AAAGCTGACCTGTCTGTAGTC -3'

Posted On

2013-05-09