Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Tk1'

453639

Institutional Source

Beutler Lab

Gene Symbol

Tk1

Ensembl Gene

ENSMUSG00000025574

Gene Name

thymidine kinase 1

Synonyms

D530002A18Rik, Tk-1

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5846 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

117706352-117716918 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 117706748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026649] [ENSMUST00000026661] [ENSMUST00000120928] [ENSMUST00000132298] [ENSMUST00000143852] [ENSMUST00000177241] [ENSMUST00000177131]

AlphaFold

P04184

Predicted Effect

probably benign
Transcript: ENSMUST00000026649

SMART Domains

Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	20	165	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026661

SMART Domains

Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574

Domain	Start	End	E-Value	Type
Pfam:TK	19	189	9.8e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120928

SMART Domains

Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	21	135	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132298

SMART Domains

Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141939

Predicted Effect

probably benign
Transcript: ENSMUST00000143852

SMART Domains

Protein: ENSMUSP00000135529
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
Pfam:MARVEL	14	118	8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176936

Predicted Effect

probably benign
Transcript: ENSMUST00000177241

Predicted Effect

probably benign
Transcript: ENSMUST00000177131

SMART Domains

Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	20	162	3.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175737

SMART Domains

Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:MARVEL	18	121	1.4e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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 cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]
PHENOTYPE: Nullizygous mice show partial postnatal lethality, poor fertility, hemosiderosis, lymphocyte and spleen anomalies, altered sublingual gland secretion, inflammation of the arteries, lung, liver and thyroid, abnormal spermatogenesis and glomerulosclerosis leading to kidney failure and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	Het

Other mutations in Tk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02082:Tk1	APN	11	117,716,553 (GRCm39)	splice site	probably null
IGL02088:Tk1	APN	11	117,715,491 (GRCm39)	unclassified	probably benign
blowout	UTSW	11	117,706,779 (GRCm39)	makesense	probably null
sale	UTSW	11	117,716,603 (GRCm39)	start codon destroyed	probably null	0.01
tica	UTSW	11	117,707,948 (GRCm39)	unclassified	probably benign
tico	UTSW	11	117,707,367 (GRCm39)	missense	probably damaging	1.00
tock	UTSW	11	117,707,320 (GRCm39)	missense	probably damaging	1.00
twix	UTSW	11	117,712,921 (GRCm39)	critical splice donor site	probably null
R0310:Tk1	UTSW	11	117,707,921 (GRCm39)	unclassified	probably benign
R0811:Tk1	UTSW	11	117,712,933 (GRCm39)	missense	probably damaging	1.00
R0812:Tk1	UTSW	11	117,712,933 (GRCm39)	missense	probably damaging	1.00
R1180:Tk1	UTSW	11	117,712,921 (GRCm39)	critical splice donor site	probably null
R5160:Tk1	UTSW	11	117,715,572 (GRCm39)	missense	possibly damaging	0.78
R5287:Tk1	UTSW	11	117,707,367 (GRCm39)	missense	probably damaging	1.00
R5886:Tk1	UTSW	11	117,707,948 (GRCm39)	unclassified	probably benign
R6862:Tk1	UTSW	11	117,707,320 (GRCm39)	missense	probably damaging	1.00
R7043:Tk1	UTSW	11	117,706,779 (GRCm39)	makesense	probably null
R7292:Tk1	UTSW	11	117,716,603 (GRCm39)	start codon destroyed	probably null	0.01
R9262:Tk1	UTSW	11	117,716,581 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGTGTCACAATGCTGGACAG -3'
(R):5'- GACAAGTATCACTCCGTGTGC -3'

Sequencing Primer
(F):5'- TCACCTTTGGCTGAACACGG -3'
(R):5'- GCCGCCTGTGCTACTTTAAGAAG -3'

Posted On

2017-02-10