Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Tk2'

422146

Institutional Source

Beutler Lab

Gene Symbol

Tk2

Ensembl Gene

ENSMUSG00000035824

Gene Name

thymidine kinase 2, mitochondrial

Synonyms

MMRRC Submission

042843-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R5328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104953317-104975190 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 104955931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050211] [ENSMUST00000050211] [ENSMUST00000211995] [ENSMUST00000211995] [ENSMUST00000212209] [ENSMUST00000212209] [ENSMUST00000212275] [ENSMUST00000212275]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050211

SMART Domains

Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
Pfam:dNK	58	267	1.2e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000050211

SMART Domains

Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
Pfam:dNK	58	267	1.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211995

Predicted Effect

probably benign
Transcript: ENSMUST00000211995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212165

Predicted Effect

probably benign
Transcript: ENSMUST00000212209

Predicted Effect

probably benign
Transcript: ENSMUST00000212209

Predicted Effect

probably null
Transcript: ENSMUST00000212275

Predicted Effect

probably null
Transcript: ENSMUST00000212275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212805

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
PHENOTYPE: Knock-out mice die at 2-4 wks of age showing stunted growth, hypothermia, progressive mtDNA loss, aberrant myocardial fibers and altered adipose tissue structure. Knock-in mutant mice show encephalomyelopathy, impaired gait, mtDNA loss, altered mt dNTP pools and respiratory chain enzyme activities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,887,694 (GRCm39)	V860E	possibly damaging	Het
Abcc6	T	C	7: 45,641,735 (GRCm39)	D881G	probably benign	Het
Abcc9	A	G	6: 142,627,785 (GRCm39)	V415A	probably benign	Het
Adgrb3	A	C	1: 25,133,356 (GRCm39)	N1003K	possibly damaging	Het
Adora3	C	T	3: 105,814,619 (GRCm39)	T123I	probably benign	Het
Amotl2	A	C	9: 102,600,967 (GRCm39)	T345P	probably benign	Het
Arap3	C	T	18: 38,124,740 (GRCm39)	E247K	possibly damaging	Het
Atp8b1	A	T	18: 64,664,462 (GRCm39)	D1235E	probably benign	Het
Axl	A	T	7: 25,472,836 (GRCm39)	V400E	probably damaging	Het
Brd8	T	A	18: 34,741,034 (GRCm39)	N431Y	probably benign	Het
Cadps	A	T	14: 12,457,790 (GRCm38)	N1025K	probably benign	Het
Cblc	A	T	7: 19,526,505 (GRCm39)	S195T	possibly damaging	Het
Chd2	C	T	7: 73,113,429 (GRCm39)	A1184T	possibly damaging	Het
Chst10	G	A	1: 38,935,043 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,527,342 (GRCm39)	K2663E	probably damaging	Het
Cspg4	A	T	9: 56,793,140 (GRCm39)	I292L	probably benign	Het
Cul1	T	C	6: 47,485,251 (GRCm39)	V294A	probably damaging	Het
Cyp2d11	G	A	15: 82,275,972 (GRCm39)	P203L	probably benign	Het
Dnaaf10	C	A	11: 17,172,220 (GRCm39)	P103Q	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eif3l	A	T	15: 78,977,561 (GRCm39)	K534*	probably null	Het
Enpep	T	C	3: 129,074,159 (GRCm39)	E796G	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam117a	T	A	11: 95,254,996 (GRCm39)		probably null	Het
Fan1	A	T	7: 64,004,217 (GRCm39)	Y750N	probably damaging	Het
Fat4	T	A	3: 39,011,017 (GRCm39)	I2039N	probably damaging	Het
Gabrr2	G	T	4: 33,082,565 (GRCm39)	D106Y	probably damaging	Het
Gak	A	C	5: 108,764,867 (GRCm39)	C145G	possibly damaging	Het
Galnt14	A	T	17: 73,812,454 (GRCm39)	N406K	possibly damaging	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm10837	G	T	14: 122,728,190 (GRCm39)	R22L	unknown	Het
Gm19965	T	A	1: 116,749,148 (GRCm39)	H276Q	possibly damaging	Het
Gm43517	T	C	12: 49,437,939 (GRCm39)		probably benign	Het
Greb1l	A	T	18: 10,553,720 (GRCm39)	I1574F	probably damaging	Het
Gzme	G	A	14: 56,355,224 (GRCm39)	H236Y	probably benign	Het
Heatr5b	G	A	17: 79,133,791 (GRCm39)	T266I	possibly damaging	Het
Hk3	T	C	13: 55,161,306 (GRCm39)	I185V	probably benign	Het
Hnrnpr	A	G	4: 136,066,527 (GRCm39)	E302G	probably benign	Het
Itgal	T	C	7: 126,910,847 (GRCm39)		probably null	Het
Itk	A	G	11: 46,222,703 (GRCm39)	S583P	probably benign	Het
Loxhd1	A	T	18: 77,498,268 (GRCm39)	I1448F	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Man2a2	A	T	7: 80,018,504 (GRCm39)	F118L	probably benign	Het
Mfsd5	T	A	15: 102,189,447 (GRCm39)	V273E	probably damaging	Het
Nfe2l2	A	G	2: 75,507,200 (GRCm39)	L300P	probably damaging	Het
Nt5c1a	T	G	4: 123,102,786 (GRCm39)	L122R	possibly damaging	Het
Nt5c3b	A	G	11: 100,331,067 (GRCm39)	F42S	probably damaging	Het
Or2av9	C	A	11: 58,381,255 (GRCm39)	A109S	possibly damaging	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Pabpc1	A	T	15: 36,603,121 (GRCm39)	D204E	probably benign	Het
Panx2	A	G	15: 88,952,298 (GRCm39)	N255S	probably damaging	Het
Pcnt	A	G	10: 76,247,553 (GRCm39)	L993P	probably damaging	Het
Pfas	A	T	11: 68,879,418 (GRCm39)	C1160S	probably damaging	Het
Plekhh3	T	A	11: 101,058,484 (GRCm39)		probably benign	Het
Plod3	T	A	5: 137,018,537 (GRCm39)	N258K	probably damaging	Het
Prr14l	T	C	5: 32,987,365 (GRCm39)	Q710R	probably benign	Het
Rnf216	G	T	5: 143,078,754 (GRCm39)	T65K	possibly damaging	Het
Samd9l	T	C	6: 3,376,739 (GRCm39)	E174G	probably damaging	Het
Septin12	T	A	16: 4,811,857 (GRCm39)	M63L	possibly damaging	Het
Sh3bgrl2	T	A	9: 83,459,509 (GRCm39)	D22E	probably benign	Het
Sirpd	T	C	3: 15,397,234 (GRCm39)	M17V	unknown	Het
Skil	A	G	3: 31,171,718 (GRCm39)	K488R	probably benign	Het
Slamf6	T	A	1: 171,765,662 (GRCm39)	I262K	probably benign	Het
Slc27a3	T	C	3: 90,294,139 (GRCm39)	D470G	probably damaging	Het
Sorbs3	A	T	14: 70,418,623 (GRCm39)	V680E	probably damaging	Het
Sox9	C	T	11: 112,673,484 (GRCm39)	T25I	probably benign	Het
Srsf1	G	T	11: 87,940,819 (GRCm39)		probably benign	Het
Stard9	A	C	2: 120,529,711 (GRCm39)	E1989D	probably damaging	Het
Thumpd2	T	A	17: 81,351,591 (GRCm39)	I277F	possibly damaging	Het
Tinag	C	A	9: 76,912,913 (GRCm39)	G299*	probably null	Het
Tmem44	A	G	16: 30,359,709 (GRCm39)	S210P	possibly damaging	Het
Traf3ip1	C	A	1: 91,447,791 (GRCm39)	P423T	probably damaging	Het
Trmt12	A	G	15: 58,744,704 (GRCm39)	D34G	probably damaging	Het
Ttc39b	A	G	4: 83,180,178 (GRCm39)	Y72H	probably damaging	Het
Ttn	G	A	2: 76,708,755 (GRCm39)		probably benign	Het
Ttyh2	T	A	11: 114,600,894 (GRCm39)	I381N	possibly damaging	Het
Uaca	A	T	9: 60,777,814 (GRCm39)	N734Y	probably benign	Het
Usp34	T	C	11: 23,414,616 (GRCm39)	I2853T	probably benign	Het
Usp34	G	A	11: 23,438,659 (GRCm39)	G3407D	probably benign	Het
Vmn2r78	A	G	7: 86,570,238 (GRCm39)	Y252C	probably damaging	Het
Wdr19	G	A	5: 65,401,522 (GRCm39)	C979Y	probably damaging	Het
Yeats2	A	T	16: 19,989,955 (GRCm39)	H277L	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfat	C	A	15: 68,051,677 (GRCm39)	G706C	probably damaging	Het
Zfp106	A	T	2: 120,350,898 (GRCm39)	N1584K	possibly damaging	Het

Other mutations in Tk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02447:Tk2	APN	8	104,967,770 (GRCm39)	missense	probably damaging	1.00
IGL02525:Tk2	APN	8	104,970,032 (GRCm39)	missense	probably benign	0.02
IGL03211:Tk2	APN	8	104,970,073 (GRCm39)	missense	probably damaging	1.00
R0333:Tk2	UTSW	8	104,975,146 (GRCm39)	unclassified	probably benign
R0691:Tk2	UTSW	8	104,957,824 (GRCm39)	missense	probably benign	0.16
R1851:Tk2	UTSW	8	104,975,077 (GRCm39)	nonsense	probably null
R3508:Tk2	UTSW	8	104,957,825 (GRCm39)	missense	probably benign	0.00
R3605:Tk2	UTSW	8	104,957,803 (GRCm39)	missense	possibly damaging	0.95
R4161:Tk2	UTSW	8	104,965,465 (GRCm39)	missense	probably benign	0.00
R5546:Tk2	UTSW	8	104,974,315 (GRCm39)	missense	possibly damaging	0.51
R6909:Tk2	UTSW	8	104,963,442 (GRCm39)	nonsense	probably null
R8098:Tk2	UTSW	8	104,957,804 (GRCm39)	missense	probably benign	0.05
R8354:Tk2	UTSW	8	104,967,746 (GRCm39)	critical splice donor site	probably null
R8357:Tk2	UTSW	8	104,963,450 (GRCm39)	missense	probably damaging	1.00
R8454:Tk2	UTSW	8	104,967,746 (GRCm39)	critical splice donor site	probably null
R8457:Tk2	UTSW	8	104,963,450 (GRCm39)	missense	probably damaging	1.00
R8978:Tk2	UTSW	8	104,957,809 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AACCCAGGTCCAGAGTAACTG -3'
(R):5'- TATCCAAGGGGTTGCCAAGG -3'

Sequencing Primer
(F):5'- GTGATGATGAGTACGACATGTTAC -3'
(R):5'- CCAAGGTCTTTAGGACAAGCTTG -3'

Posted On

2016-08-04