Incidental Mutation 'R0333:Tk2'
| ID |
98702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tk2
|
| Ensembl Gene |
ENSMUSG00000035824 |
| Gene Name |
thymidine kinase 2, mitochondrial |
| Synonyms |
|
| MMRRC Submission |
038542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.755)
|
| Stock # |
R0333 (G1)
|
| Quality Score |
62 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
104953317-104975190 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 104975146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034342]
[ENSMUST00000050211]
[ENSMUST00000098464]
[ENSMUST00000211809]
[ENSMUST00000211995]
[ENSMUST00000212209]
[ENSMUST00000212275]
[ENSMUST00000212854]
[ENSMUST00000212939]
[ENSMUST00000212433]
[ENSMUST00000212410]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034342
|
| SMART Domains |
Protein: ENSMUSP00000034342
Gene: ENSMUSG00000054400
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
107 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000050211
AA Change: R7H
|
| SMART Domains |
Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824
AA Change: R7H
| 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: ENSMUST00000098464
|
| SMART Domains |
Protein: ENSMUSP00000096064
Gene: ENSMUSG00000054400
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211809
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211995
AA Change: R7H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212209
AA Change: R7H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212275
AA Change: R7H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212854
AA Change: V7I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212433
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212410
|
| Meta Mutation Damage Score |
0.0851 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
T |
C |
9: 106,118,480 (GRCm39) |
N214S |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,165,820 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,818 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,737,060 (GRCm39) |
E60G |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,704,142 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
T |
C |
5: 121,998,671 (GRCm39) |
E1423G |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,512 (GRCm39) |
Q165K |
probably damaging |
Het |
| Drd1 |
C |
A |
13: 54,208,082 (GRCm39) |
C37F |
probably damaging |
Het |
| Elp3 |
G |
A |
14: 65,828,042 (GRCm39) |
P11L |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,314,777 (GRCm39) |
Y167H |
probably damaging |
Het |
| Gimap3 |
G |
A |
6: 48,742,664 (GRCm39) |
Q89* |
probably null |
Het |
| H2ac25 |
C |
A |
11: 58,845,685 (GRCm39) |
S41* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,371,981 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,007,271 (GRCm39) |
V603A |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,624,833 (GRCm39) |
A130T |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,664,241 (GRCm39) |
Y530C |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,699,186 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,600 (GRCm39) |
L778M |
probably damaging |
Het |
| Mtdh |
T |
C |
15: 34,118,247 (GRCm39) |
S344P |
possibly damaging |
Het |
| Ncoa3 |
T |
G |
2: 165,896,211 (GRCm39) |
N371K |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,111,408 (GRCm39) |
|
probably benign |
Het |
| Nrn1l |
A |
G |
8: 106,621,052 (GRCm39) |
E48G |
probably benign |
Het |
| Nudcd1 |
A |
G |
15: 44,264,683 (GRCm39) |
I271T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,593 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,498 (GRCm38) |
L129P |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,269,371 (GRCm39) |
N653S |
probably benign |
Het |
| Plekhg1 |
A |
C |
10: 3,914,419 (GRCm39) |
K1380N |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,675,161 (GRCm39) |
I210N |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,279,077 (GRCm39) |
|
probably benign |
Het |
| Prkn |
T |
C |
17: 11,286,027 (GRCm39) |
F6L |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,337 (GRCm39) |
L1386P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,829,685 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,240 (GRCm39) |
L2563I |
probably damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,200 (GRCm39) |
|
probably benign |
Het |
| Rslcan18 |
T |
C |
13: 67,246,686 (GRCm39) |
K309E |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,930 (GRCm39) |
T92M |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,585,514 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,692 (GRCm39) |
A44T |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,671,048 (GRCm39) |
V732A |
possibly damaging |
Het |
| Spata2l |
A |
G |
8: 123,960,371 (GRCm39) |
F306S |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,677,491 (GRCm39) |
D2552G |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,595,711 (GRCm39) |
L358H |
possibly damaging |
Het |
| Tm6sf2 |
C |
T |
8: 70,530,564 (GRCm39) |
R215C |
probably damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,304,555 (GRCm39) |
I204T |
probably damaging |
Het |
| Tubgcp2 |
C |
A |
7: 139,579,260 (GRCm39) |
W675C |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,321,794 (GRCm39) |
I62N |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,491 (GRCm39) |
T716A |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,879,949 (GRCm39) |
T3008K |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,905,124 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R5328:Tk2
|
UTSW |
8 |
104,955,931 (GRCm39) |
splice site |
probably null |
|
|
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'- GCTGATTAAATACAGCTCGTGCCCC -3'
(R):5'- CAGTCCCCGGCATTATTATGCCATC -3'
Sequencing Primer
(F):5'- aaaaattaaaaaaatGGGCCGAGAAG -3'
(R):5'- CTCTAAATCTACTTGGGTCAGGGC -3'
|
| Posted On |
2014-01-07 |
Incidental Mutation