Mutagenetix > Incidental Mutation

Incidental Mutation 'R7292:Tk1'

566505

Institutional Source

Beutler Lab

Gene Symbol

Tk1

Ensembl Gene

ENSMUSG00000025574

Gene Name

thymidine kinase 1

Synonyms

D530002A18Rik, Tk-1

MMRRC Submission

045397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117706352-117716918 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to T at 117716603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000026661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026661] [ENSMUST00000073388] [ENSMUST00000132298] [ENSMUST00000149668]

AlphaFold

P04184

Predicted Effect

probably null
Transcript: ENSMUST00000026661
AA Change: M1I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574
AA Change: M1I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000073388

SMART Domains

Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718

Domain	Start	End	E-Value	Type
Pfam:COesterase	34	139	1.1e-6	PFAM
Pfam:Abhydrolase_5	88	280	4.1e-12	PFAM
Pfam:Abhydrolase_3	89	283	7.8e-19	PFAM
Pfam:Peptidase_S9	106	296	1e-8	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

probably benign
Transcript: ENSMUST00000149668

SMART Domains

Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	80	272	9.1e-12	PFAM
Pfam:Abhydrolase_3	81	273	1.7e-17	PFAM
Pfam:Peptidase_S9	101	287	2.7e-7	PFAM

Meta Mutation Damage Score

0.9468

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,215,861 (GRCm39)	C322*	probably null	Het
4930553M12Rik	G	A	4: 88,786,568 (GRCm39)	R17C	unknown	Het
Abcc8	G	A	7: 45,784,950 (GRCm39)	T726I	probably benign	Het
Adamts18	T	C	8: 114,436,277 (GRCm39)	T981A	probably benign	Het
Adgrb3	A	G	1: 25,570,957 (GRCm39)	C507R	probably damaging	Het
Bloc1s6	T	A	2: 122,584,615 (GRCm39)	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,033,093 (GRCm39)	R135W	probably damaging	Het
Cdca2	G	T	14: 67,915,326 (GRCm39)	Y644*	probably null	Het
Ceacam10	G	T	7: 24,477,775 (GRCm39)	G97C	probably damaging	Het
Cenpf	G	A	1: 189,382,891 (GRCm39)	L2668F	probably damaging	Het
Cog4	A	G	8: 111,608,460 (GRCm39)	D774G	probably damaging	Het
Col11a2	G	A	17: 34,270,482 (GRCm39)	G511E	unknown	Het
Col19a1	T	A	1: 24,569,089 (GRCm39)	I220F	unknown	Het
Cubn	G	T	2: 13,429,550 (GRCm39)	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,136,072 (GRCm39)	L24P	unknown	Het
Eif4a3l2	G	A	6: 116,528,438 (GRCm39)	R105Q	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,396,716 (GRCm39)	E256*	probably null	Het
Gm5930	A	G	14: 44,574,014 (GRCm39)	S108P	probably damaging	Het
Gnl3	A	G	14: 30,735,189 (GRCm39)	S468P	probably benign	Het
Gzmb	A	T	14: 56,499,576 (GRCm39)	S11T	probably benign	Het
Hmcn1	T	C	1: 150,608,880 (GRCm39)		probably null	Het
Ifi206	A	G	1: 173,301,428 (GRCm39)	L750P	unknown	Het
Ifi213	T	A	1: 173,422,691 (GRCm39)	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,036,752 (GRCm39)	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,319,324 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,060,447 (GRCm39)	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 123,018,854 (GRCm39)	F862S	probably damaging	Het
Kif19b	A	G	5: 140,457,425 (GRCm39)	D398G	probably benign	Het
Meis1	A	G	11: 18,961,351 (GRCm39)	I174T	probably damaging	Het
Micu3	A	G	8: 40,835,166 (GRCm39)	Q507R	probably benign	Het
Mpp4	C	T	1: 59,182,969 (GRCm39)	E313K	possibly damaging	Het
Nfatc4	G	A	14: 56,062,512 (GRCm39)	E7K	probably damaging	Het
Or7g16	A	T	9: 18,727,486 (GRCm39)	Y35N	probably damaging	Het
Or9s18	T	A	13: 65,300,656 (GRCm39)	V206D	possibly damaging	Het
Osbpl5	G	A	7: 143,255,015 (GRCm39)	P470S	probably damaging	Het
Pak6	A	G	2: 118,524,072 (GRCm39)	D409G	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,361,986 (GRCm39)	M553K	probably benign	Het
Ppp2r3d	T	C	9: 101,089,871 (GRCm39)	N151D	probably damaging	Het
Prdm12	T	C	2: 31,533,862 (GRCm39)	W160R	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,991,353 (GRCm39)		probably null	Het
Prob1	G	A	18: 35,787,603 (GRCm39)	P217L	possibly damaging	Het
Ramp1	A	C	1: 91,124,499 (GRCm39)	H20P	probably benign	Het
Rbm47	T	A	5: 66,184,093 (GRCm39)	E170V	possibly damaging	Het
Relch	G	T	1: 105,649,141 (GRCm39)		probably null	Het
Rpn1	C	T	6: 88,067,066 (GRCm39)	P142L	probably damaging	Het
Rsu1	C	T	2: 13,174,827 (GRCm39)	R238H	probably damaging	Het
Sh3rf3	C	T	10: 58,907,795 (GRCm39)	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,650,438 (GRCm39)	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,500,222 (GRCm39)	S245R	probably damaging	Het
Spcs3	T	C	8: 54,979,554 (GRCm39)	N76D	probably benign	Het
Spmip5	A	T	19: 58,777,539 (GRCm39)	Y90*	probably null	Het
Svep1	T	C	4: 58,111,395 (GRCm39)	T1075A	possibly damaging	Het
Sympk	A	T	7: 18,769,955 (GRCm39)	I211F	probably benign	Het
Tln2	A	G	9: 67,253,743 (GRCm39)	V776A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,499,618 (GRCm39)	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630 (GRCm39)	S508C	probably benign	Het
Trank1	A	C	9: 111,206,938 (GRCm39)	R1690S	probably benign	Het
Trio	T	A	15: 27,828,437 (GRCm39)	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,912,927 (GRCm39)	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,761,700 (GRCm39)	D552E	probably benign	Het
Zw10	T	C	9: 48,972,491 (GRCm39)	V186A	probably benign	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
R5846:Tk1	UTSW	11	117,706,748 (GRCm39)	unclassified	probably benign
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
R9262:Tk1	UTSW	11	117,716,581 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TTTCCCTGAGAACATGGGCC -3'
(R):5'- GAAGACAAGTTCCTCCAGGGATTC -3'

Sequencing Primer
(F):5'- ATGGGCCCGAGAATCACCTAG -3'
(R):5'- ATTCTGGCCCGCAGAAAG -3'

Posted On

2019-06-26